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Hypoproteinemia

MedGen UID:
581229
Concept ID:
C0392692
Finding
Synonyms: Decreased protein levels in blood; Serum proteins below reference range; Serum proteins low
SNOMED CT: Serum proteins low (166778002); Serum proteins below reference range (166778002)
 
HPO: HP:0003075

Definition

A decreased concentration of protein in the blood. [from HPO]

Term Hierarchy

Conditions with this feature

Gastric mucosal hypertrophy
MedGen UID:
4844
Concept ID:
C0017155
Disease or Syndrome
A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.
Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) 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).
Enterokinase deficiency
MedGen UID:
82802
Concept ID:
C0268416
Disease or Syndrome
Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen (see 276000) and has a major role in protein digestion, is an autosomal recessive disorder characterized by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhea, and generalized edema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued (summary by Holzinger et al., 2002).
Finnish congenital nephrotic syndrome
MedGen UID:
98011
Concept ID:
C0403399
Disease or Syndrome
The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996). Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998). 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 Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also 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); NPHS21 (618594) caused by mutation in the AVIL gene (613397); NPHS22 (619155), caused by mutation in the NOS1AP gene (605551); NPHS23 (619201), caused by mutation in the KIRREL1 gene (607428); NPHS24 (619263), caused by mutation in the DAAM2 gene (606627); and NPHS26 (620049), caused by mutation in the LAMA5 gene (601033). The symbol NPHS25 has been used as an alternative designation for NPHS21. See also FSGS1 (603278), caused by mutation in the ACTN4 gene (604638); 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); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720).
Pierson syndrome
MedGen UID:
373199
Concept ID:
C1836876
Disease or Syndrome
Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).
Hypoproteinemia, hypercatabolic
MedGen UID:
343422
Concept ID:
C1855796
Disease or Syndrome
Immunodeficiency-43 (IMD43) is an autosomal recessive immunologic disorder characterized by decreased or absent expression of MHC class I molecules on the cell surface. Most affected individuals develop recurrent bacterial respiratory tract infections in childhood or adulthood, which may progress to bronchiectasis, and about half develop ulcerating or necrotizing granulomatous inflammatory skin lesions. Laboratory studies show decreased numbers of B cells, hypogammaglobulinemia, hypoproteinemia, and decreased alpha-beta CD8+ T cells with increased gamma-delta CD8+ T cells. The severity is variable, and some individuals may be asymptomatic (summary by Ardeniz et al., 2015). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571).
Mullerian derivatives-lymphangiectasia-polydactyly syndrome
MedGen UID:
343489
Concept ID:
C1856159
Disease or Syndrome
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
Deafness-small bowel diverticulosis-neuropathy syndrome
MedGen UID:
347426
Concept ID:
C1857338
Disease or Syndrome
Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait.
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
MedGen UID:
349241
Concept ID:
C1859753
Disease or Syndrome
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
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.
Histiocytic medullary reticulosis
MedGen UID:
398130
Concept ID:
C2700553
Disease or Syndrome
Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005). Another distinct form of familial histiocytic reticulocytosis (267700) is caused by mutation in the perforin-1 gene (PRF1; 170280) on chromosome 10q22.
DPAGT1-congenital disorder of glycosylation
MedGen UID:
419694
Concept ID:
C2931004
Disease or Syndrome
Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway. For a general discussion of CDGs, see CDG1A (212065).
Polyglucosan body myopathy type 1
MedGen UID:
863042
Concept ID:
C4014605
Disease or Syndrome
Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body Myopathy See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24.
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.
Nephrotic syndrome, type 22
MedGen UID:
1745920
Concept ID:
C5436909
Disease or Syndrome
Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).

Professional guidelines

PubMed

Azanza Perea JR
Rev Esp Quimioter 2022 Oct;35 Suppl 3(Suppl 3):30-33. Epub 2022 Oct 24 doi: 10.37201/req/s03.07.2022. PMID: 36285854Free PMC Article
Fu M, Zhang Y, Guo J, Zhao Y, Hou Z, Wang Z, Zhang Y
Aging Clin Exp Res 2022 May;34(5):1149-1158. Epub 2022 Jan 24 doi: 10.1007/s40520-021-02038-z. PMID: 35067910Free PMC Article
Wei L, Chen B, Ye R, Li H
J Tradit Chin Med 1999 Mar;19(1):3-9. PMID: 10453576

Recent clinical studies

Etiology

Azanza Perea JR
Rev Esp Quimioter 2022 Oct;35 Suppl 3(Suppl 3):30-33. Epub 2022 Oct 24 doi: 10.37201/req/s03.07.2022. PMID: 36285854Free PMC Article
Bartoletti M, Giannella M, Lewis RE, Viale P
Virulence 2016 Apr 2;7(3):309-19. Epub 2016 Feb 11 doi: 10.1080/21505594.2016.1141162. PMID: 26864729Free PMC Article
Ros Ruiz S, Gutiérrez Vilchez E, García Frías TP, Martín Velázquez TM, Blanca Martos L, Jiménez Salcedo T, Hernández Marrero D
Nefrologia 2011;31(6):648-55. doi: 10.3265/Nefrologia.pre2011.Jun.10901. PMID: 22130279
Neghina R, Neghina AM
Foodborne Pathog Dis 2011 Sep;8(9):943-8. Epub 2011 Apr 27 doi: 10.1089/fpd.2011.0861. PMID: 21524198
Helmkamp BF
Am J Obstet Gynecol 1977 Aug 1;128(7):803-7. doi: 10.1016/0002-9378(77)90724-4. PMID: 879248

Diagnosis

Liebeskind DS
Handb Clin Neurol 2014;119:405-15. doi: 10.1016/B978-0-7020-4086-3.00026-6. PMID: 24365309
Azemi M, Berisha M, Kolgeci S, Avdiu M, Hoxha-Kamberi T, Daka A
Med Arh 2012;66(2):137-9. doi: 10.5455/medarh.2012.66.137-139. PMID: 22486149
Braamskamp MJ, Dolman KM, Tabbers MM
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Sawalka SS, Phiske MM, Jerajani HR
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Savilahti E
J Pediatr Gastroenterol Nutr 2000;30 Suppl:S61-6. doi: 10.1097/00005176-200001001-00010. PMID: 10634301

Therapy

Azanza Perea JR
Rev Esp Quimioter 2022 Oct;35 Suppl 3(Suppl 3):30-33. Epub 2022 Oct 24 doi: 10.37201/req/s03.07.2022. PMID: 36285854Free PMC Article
Pauluhn J
Toxicology 2021 Feb 28;450:152682. Epub 2021 Jan 20 doi: 10.1016/j.tox.2021.152682. PMID: 33484734
Ros Ruiz S, Gutiérrez Vilchez E, García Frías TP, Martín Velázquez TM, Blanca Martos L, Jiménez Salcedo T, Hernández Marrero D
Nefrologia 2011;31(6):648-55. doi: 10.3265/Nefrologia.pre2011.Jun.10901. PMID: 22130279
Sawalka SS, Phiske MM, Jerajani HR
Indian J Dermatol Venereol Leprol 2007 Mar-Apr;73(2):117-9. doi: 10.4103/0378-6323.31900. PMID: 17456921
Cho S, Atwood JE
Am J Med 2002 Nov;113(7):580-6. doi: 10.1016/s0002-9343(02)01322-0. PMID: 12459405

Prognosis

Shi S, Qin M, Shen B, Cai Y, Liu T, Yang F, Gong W, Liu X, Liang J, Zhao Q, Huang H, Yang B, Huang C
JAMA Cardiol 2020 Jul 1;5(7):802-810. doi: 10.1001/jamacardio.2020.0950. PMID: 32211816Free PMC Article
Furfaro F, Bezzio C, Maconi G
Minerva Gastroenterol Dietol 2015 Dec;61(4):261-5. Epub 2015 Oct 7 PMID: 26446687
Braamskamp MJ, Dolman KM, Tabbers MM
Eur J Pediatr 2010 Oct;169(10):1179-85. Epub 2010 Jun 23 doi: 10.1007/s00431-010-1235-2. PMID: 20571826Free PMC Article
Mathur GP, Chitranshi S, Mathur S, Singh SB, Bhalla M
Indian Pediatr 1992 Dec;29(12):1541-4. PMID: 1291500
Helmkamp BF
Am J Obstet Gynecol 1977 Aug 1;128(7):803-7. doi: 10.1016/0002-9378(77)90724-4. PMID: 879248

Clinical prediction guides

Pham VT, Nguyen MLT, Pham C, LE QV, Tran DH, LE TS, Nguyen LT, Bui KC
Bratisl Lek Listy 2024;125(6):392-398. doi: 10.4149/BLL_2024_60. PMID: 38757598
Li F, Yuan MZ, Wang L, Wang XF, Liu GW
Expert Rev Anti Infect Ther 2015 Apr;13(4):521-6. Epub 2015 Feb 27 doi: 10.1586/14787210.2015.1019471. PMID: 25724113
Mathur GP, Chitranshi S, Mathur S, Singh SB, Bhalla M
Indian Pediatr 1992 Dec;29(12):1541-4. PMID: 1291500
Edwards CQ, Williams DM, Cartwright GE
Clin Genet 1979 Apr;15(4):311-6. doi: 10.1111/j.1399-0004.1979.tb01740.x. PMID: 436329
Helmkamp BF
Am J Obstet Gynecol 1977 Aug 1;128(7):803-7. doi: 10.1016/0002-9378(77)90724-4. PMID: 879248

Recent systematic reviews

Zhang X, Sun D, Xu Q, Liu H, Li Y, Wang D, Wang J, Zhang Q, Hou P, Mu W, Jia C, Li A
Int J Surg 2023 Aug 1;109(8):2509-2524. doi: 10.1097/JS9.0000000000000473. PMID: 37288551Free PMC Article
Yang L, Feng L, Huang L, Li X, Qiu W, Yang K, Qiu J, Li H
Reprod Sci 2023 Jun;30(6):1737-1745. Epub 2023 Jan 20 doi: 10.1007/s43032-021-00756-3. PMID: 36662420
Moayed MS, Rahimi-Bashar F, Vahedian-Azimi A, Sathyapalan T, Guest PC, Jamialahmadi T, Sahebkar A
Adv Exp Med Biol 2021;1321:325-333. doi: 10.1007/978-3-030-59261-5_29. PMID: 33656737
Huy NT, Van Giang T, Thuy DH, Kikuchi M, Hien TT, Zamora J, Hirayama K
PLoS Negl Trop Dis 2013;7(9):e2412. Epub 2013 Sep 26 doi: 10.1371/journal.pntd.0002412. PMID: 24086778Free PMC Article
Neghina R, Neghina AM
Foodborne Pathog Dis 2011 Sep;8(9):943-8. Epub 2011 Apr 27 doi: 10.1089/fpd.2011.0861. PMID: 21524198

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