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Hypoalbuminemia

MedGen UID:
68694
Concept ID:
C0239981
Disease or Syndrome; Finding
Synonyms: Hypoalbuminaemia; Low albumin; Low blood albumin; Serum albumin low
SNOMED CT: Hypoalbuminemia (119247004); Serum albumin low (119247004)
 
HPO: HP:0003073

Definition

Reduction in the concentration of albumin in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoalbuminemia

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.
Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.
Juvenile polyposis syndrome
MedGen UID:
87518
Concept ID:
C0345893
Neoplastic Process
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.
PMM2-congenital disorder of glycosylation
MedGen UID:
138111
Concept ID:
C0349653
Disease or Syndrome
PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding problems, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.
Finnish congenital nephrotic syndrome
MedGen UID:
98011
Concept ID:
C0403399
Disease or Syndrome
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.\n\nThe features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.\n\nChildren with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.
Chylomicron retention disease
MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.
Analbuminemia
MedGen UID:
164210
Concept ID:
C0878666
Finding
Analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and occasionally a peculiar lower body lipodystrophy (mainly in adult females). The most common biochemical finding is a gross hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. Analbuminemia often leads to fetal or neonatal death in sibs in families of analbuminemic individuals, which may explain the rarity of the trait (summary by Caridi et al., 2014).
Autosomal recessive keratitis-ichthyosis-deafness syndrome
MedGen UID:
224809
Concept ID:
C1275089
Disease or Syndrome
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients (Alsaif et al., 2019; Boyden et al., 2019). An autosomal dominant form of KID syndrome (KIDAD; 148210) is caused by mutation in the GJB2 gene (121011) on chromosome 13q12. Mutation in the AP1S1 gene (603531) causes a disorder with overlapping features (MEDNIK; 609313).
Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
MedGen UID:
324980
Concept ID:
C1838238
Disease or Syndrome
Nephrotic syndrome, type 3
MedGen UID:
377831
Concept ID:
C1853124
Disease or Syndrome
Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006). Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
Hypoproteinemia, hypercatabolic
MedGen UID:
343422
Concept ID:
C1855796
Disease or Syndrome
Congenital lethal erythroderma
MedGen UID:
384008
Concept ID:
C1856898
Congenital Abnormality
A rare skin disorder characterized by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
MedGen UID:
395301
Concept ID:
C1859598
Disease or Syndrome
Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed.
Familial hemophagocytic lymphohistiocytosis 2
MedGen UID:
400366
Concept ID:
C1863727
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.
MPI-congenital disorder of glycosylation
MedGen UID:
400692
Concept ID:
C1865145
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG.
Nephrotic syndrome, type 2
MedGen UID:
358380
Concept ID:
C1868672
Disease or Syndrome
Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
XFE progeroid syndrome
MedGen UID:
410064
Concept ID:
C1970416
Disease or Syndrome
An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.
ALG8 congenital disorder of glycosylation
MedGen UID:
419692
Concept ID:
C2931002
Disease or Syndrome
CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065). CDG1H is a severe form of CDG. The majority of patients have brain involvement, liver pathology, gastrointestinal symptoms, dysmorphism (including brachydactyly), eye involvement (especially cataract), and skin symptoms. Most patients die within the first year of life (summary by Marques-da-Silva et al., 2017).
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
MedGen UID:
480294
Concept ID:
C3278664
Disease or Syndrome
Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder. A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880). See ILFS1 (615438) for information on syndromic infantile liver failure.
Focal segmental glomerulosclerosis 6
MedGen UID:
481535
Concept ID:
C3279905
Disease or Syndrome
Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).
Nephrotic syndrome, type 6
MedGen UID:
481730
Concept ID:
C3280100
Disease or Syndrome
The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
MedGen UID:
482430
Concept ID:
C3280800
Disease or Syndrome
Autosomal recessive primary hypertrophic osteoarthropathy-2 (PHOAR2) is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Pain and swelling of ankles and knees, watery diarrhea, and excessive sweating are often present. Males are more frequently and severely affected (summary by Zhang et al., 2013, Li et al., 2017). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).
Nephrotic syndrome, type 8
MedGen UID:
815283
Concept ID:
C3808953
Disease or Syndrome
Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.
Nephrotic syndrome, type 9
MedGen UID:
816295
Concept ID:
C3809965
Disease or Syndrome
Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
Immunodeficiency 27A
MedGen UID:
860386
Concept ID:
C4011949
Disease or Syndrome
Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).
Hennekam lymphangiectasia-lymphedema syndrome 1
MedGen UID:
860487
Concept ID:
C4012050
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.
Congenital diarrhea 7 with exudative enteropathy
MedGen UID:
862953
Concept ID:
C4014516
Disease or Syndrome
Diarrhea-7 (DIAR7) is a protein-losing enteropathy characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas. Patients experience failure to thrive, hypogammaglobulinemia with recurrent infections, and require albumin infusions and parenteral nutrition. Hypertriglyceridemia and digital clubbing have been observed (Stephen et al., 2016). The malabsorption can result in severe deficiency of vitamin D and other nutrients (Gupta et al., 2020). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
MedGen UID:
863504
Concept ID:
C4015067
Disease or Syndrome
Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).
Immunodeficiency 32B
MedGen UID:
865178
Concept ID:
C4016741
Disease or Syndrome
Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017).
Nephrotic syndrome, type 11
MedGen UID:
898622
Concept ID:
C4225228
Disease or Syndrome
Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (Miyake et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
MedGen UID:
934594
Concept ID:
C4310627
Disease or Syndrome
MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
MedGen UID:
934657
Concept ID:
C4310690
Disease or Syndrome
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
MedGen UID:
1388385
Concept ID:
C4518785
Disease or Syndrome
Junctional epidermolysis bullosa-7 with interstitial lung disease and nephrotic syndrome (JEB7), also known as ILNEB, is an autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by Has et al., 2012).
Nephrotic syndrome 15
MedGen UID:
1620414
Concept ID:
C4539896
Disease or Syndrome
NPHS15 is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. Some patients show rapid progression to end-stage renal failure necessitating transplant, whereas others have a more benign course that can be managed with medication. Renal biopsy tends to show glomerular sclerosis and effacement of podocyte foot processes (summary by Bierzynska et al., 2017). For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
Galloway-Mowat syndrome 3
MedGen UID:
1627611
Concept ID:
C4540266
Disease or Syndrome
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Nephrotic syndrome 14
MedGen UID:
1617660
Concept ID:
C4540559
Disease or Syndrome
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy.
Familial hemophagocytic lymphohistiocytosis type 1
MedGen UID:
1642840
Concept ID:
C4551514
Disease or Syndrome
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.
Focal segmental glomerulosclerosis 1
MedGen UID:
1636833
Concept ID:
C4551527
Disease or Syndrome
Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); FSGS9 (616220), caused by mutation in the CRB2 gene (609720); and FSGS10 (256020), caused by mutation in the LMX1B gene (602575). See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the COQ8B gene (615567); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); NPHS11 (616730), caused by mutation in the NUP107 gene (607617); NPHS12 (616892), caused by mutation in the NUP93 gene (614351); NPHS13 (616893), caused by mutation in the NUP205 gene (614352); NPHS14 (617575), caused by mutation in the SGPL1 gene (603729); NPHS15 (617609), caused by mutation in the MAGI2 gene (606382); NPHS16 (617783), caused by mutation in the KANK2 gene (614610), NPHS17 (618176), caused by mutation in the NUP85 gene (170285); NPHS18 (618177), caused by mutation in the NUP133 gene (607613); NPHS19 (618178), caused by mutation in the NUP160 gene (607614); NPHS20 (301028), caused by mutation in the TBC1D8B gene (301027); and NPHS21 (618594) caused by mutation in the AVIL gene (613397).
Galloway-Mowat syndrome 1
MedGen UID:
1634188
Concept ID:
C4551772
Disease or Syndrome
Trichohepatoenteric syndrome 1
MedGen UID:
1644087
Concept ID:
C4551982
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.
Diarrhea 10, protein-losing enteropathy type
MedGen UID:
1648311
Concept ID:
C4748579
Disease or Syndrome
Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
MedGen UID:
1683470
Concept ID:
C4759870
Disease or Syndrome
Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia and distal sensorimotor axonal neuropathy. Gaze nystagmus and dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation in the hands and feet become impaired; vibration sense is lost in hands and lower thighs. Individuals with advanced disease develop a steppage gait and pes cavus and eventually become wheelchair dependent. Cognitive dysfunction – present in some – manifests as mild intellectual disability and poor executive function. To date only seven affected individuals have been described from three apparently unrelated consanguineous families (one from Saudi Arabia and two from Oman); therefore, it is likely that the full phenotypic spectrum of this disorder is not yet known.
Mitochondrial DNA depletion syndrome 3
MedGen UID:
1682503
Concept ID:
C5191055
Disease or Syndrome
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.
Combined oxidative phosphorylation deficiency 37
MedGen UID:
1675208
Concept ID:
C5193031
Disease or Syndrome
Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Galloway-Mowat syndrome 6
MedGen UID:
1674560
Concept ID:
C5193043
Disease or Syndrome
Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Galloway-Mowat syndrome 8
MedGen UID:
1675829
Concept ID:
C5193045
Disease or Syndrome
Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Triokinase and FMN cyclase deficiency syndrome
MedGen UID:
1710207
Concept ID:
C5394125
Disease or Syndrome
Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020).
X-linked lymphoproliferative disease due to SH2D1A deficiency
MedGen UID:
1770239
Concept ID:
C5399825
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Rajab interstitial lung disease with brain calcifications 1
MedGen UID:
1750003
Concept ID:
C5436276
Disease or Syndrome
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
Rajab interstitial lung disease with brain calcifications 2
MedGen UID:
1770895
Concept ID:
C5436603
Disease or Syndrome
Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658).
Mitochondrial complex 4 deficiency, nuclear type 12
MedGen UID:
1745691
Concept ID:
C5436695
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Immunodeficiency 82 with systemic inflammation
MedGen UID:
1781752
Concept ID:
C5543581
Disease or Syndrome
Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).
Aicardi-Goutieres syndrome 9
MedGen UID:
1794176
Concept ID:
C5561966
Disease or Syndrome
Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Cholestasis, progressive familial intrahepatic, 10
MedGen UID:
1807702
Concept ID:
C5676981
Disease or Syndrome
Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).

Professional guidelines

PubMed

Craven MD, Washabau RJ
J Vet Intern Med 2019 Mar;33(2):383-402. Epub 2019 Feb 14 doi: 10.1111/jvim.15406. PMID: 30762910Free PMC Article
Kodner C
Am Fam Physician 2016 Mar 15;93(6):479-85. PMID: 26977832
Kodner C
Am Fam Physician 2009 Nov 15;80(10):1129-34. PMID: 19904897

Recent clinical studies

Etiology

Manolis AA, Manolis TA, Melita H, Mikhailidis DP, Manolis AS
Eur J Intern Med 2022 Aug;102:24-39. Epub 2022 May 7 doi: 10.1016/j.ejim.2022.05.004. PMID: 35537999
Wiedermann CJ
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094496. PMID: 33925831Free PMC Article
Soeters PB, Wolfe RR, Shenkin A
JPEN J Parenter Enteral Nutr 2019 Feb;43(2):181-193. Epub 2018 Oct 4 doi: 10.1002/jpen.1451. PMID: 30288759Free PMC Article
Arques S
Eur J Intern Med 2018 Jun;52:8-12. Epub 2018 Apr 19 doi: 10.1016/j.ejim.2018.04.014. PMID: 29680174
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Crit Care 2014 Jul 16;18(4):231. doi: 10.1186/cc13991. PMID: 25042164Free PMC Article

Diagnosis

Manolis AA, Manolis TA, Melita H, Mikhailidis DP, Manolis AS
Eur J Intern Med 2022 Aug;102:24-39. Epub 2022 May 7 doi: 10.1016/j.ejim.2022.05.004. PMID: 35537999
Kim S, McClave SA, Martindale RG, Miller KR, Hurt RT
Am Surg 2017 Nov 1;83(11):1220-1227. doi: 10.1177/000313481708301123. PMID: 29183523
Kodner C
Am Fam Physician 2016 Mar 15;93(6):479-85. PMID: 26977832
Liebeskind DS
Handb Clin Neurol 2014;119:405-15. doi: 10.1016/B978-0-7020-4086-3.00026-6. PMID: 24365309
Kelly A, Levine MA
J Intensive Care Med 2013 May-Jun;28(3):166-77. Epub 2011 Aug 12 doi: 10.1177/0885066611411543. PMID: 21841146

Therapy

Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Wiedermann CJ
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094496. PMID: 33925831Free PMC Article
Wiedermann CJ
Curr Med Res Opin 2020 Dec;36(12):1961-1973. Epub 2020 Nov 5 doi: 10.1080/03007995.2020.1840970. PMID: 33090028
Kodner C
Am Fam Physician 2016 Mar 15;93(6):479-85. PMID: 26977832
Gatta A, Verardo A, Bolognesi M
Intern Emerg Med 2012 Oct;7 Suppl 3:S193-9. doi: 10.1007/s11739-012-0802-0. PMID: 23073857

Prognosis

Choi SR, Lee YK, Cho AJ, Park HC, Han CH, Choi MJ, Koo JR, Yoon JW, Noh JW
PLoS One 2019;14(5):e0216415. Epub 2019 May 2 doi: 10.1371/journal.pone.0216415. PMID: 31048884Free PMC Article
Afilalo J, Lauck S, Kim DH, Lefèvre T, Piazza N, Lachapelle K, Martucci G, Lamy A, Labinaz M, Peterson MD, Arora RC, Noiseux N, Rassi A, Palacios IF, Généreux P, Lindman BR, Asgar AW, Kim CA, Trnkus A, Morais JA, Langlois Y, Rudski LG, Morin JF, Popma JJ, Webb JG, Perrault LP
J Am Coll Cardiol 2017 Aug 8;70(6):689-700. Epub 2017 Jul 7 doi: 10.1016/j.jacc.2017.06.024. PMID: 28693934
Druey KM, Parikh SM
J Allergy Clin Immunol 2017 Sep;140(3):663-670. Epub 2016 Dec 22 doi: 10.1016/j.jaci.2016.10.042. PMID: 28012935Free PMC Article
Ordooei Javan A, Shokouhi S, Sahraei Z
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Clinical prediction guides

Chen CB, Hammo B, Barry J, Radhakrishnan K
Curr Gastroenterol Rep 2021 Jul 2;23(8):11. doi: 10.1007/s11894-021-00813-6. PMID: 34213692
Wiedermann CJ
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094496. PMID: 33925831Free PMC Article
Erstad BL
Ann Pharmacother 2021 Jun;55(6):798-804. Epub 2020 Sep 10 doi: 10.1177/1060028020959348. PMID: 32909438
Gatta A, Verardo A, Bolognesi M
Intern Emerg Med 2012 Oct;7 Suppl 3:S193-9. doi: 10.1007/s11739-012-0802-0. PMID: 23073857
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Semin Dial 2004 Nov-Dec;17(6):432-7. doi: 10.1111/j.0894-0959.2004.17603.x. PMID: 15660573

Recent systematic reviews

Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Kose E, Wakabayashi H, Yasuno N
Nutrients 2021 Jun 7;13(6) doi: 10.3390/nu13061961. PMID: 34200493Free PMC Article
Kumar-M P, Mishra S, Jha DK, Shukla J, Choudhury A, Mohindra R, Mandavdhare HS, Dutta U, Sharma V
Hepatol Int 2020 Sep;14(5):711-722. Epub 2020 Jul 4 doi: 10.1007/s12072-020-10071-9. PMID: 32623633Free PMC Article
Li Z, Xu D, Wang Z, Wang Y, Zhang S, Li M, Zeng X
Lupus 2017 Oct;26(11):1127-1138. Epub 2017 May 19 doi: 10.1177/0961203317707825. PMID: 28523968

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