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Fabry disease

MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Synonyms: Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Atypical Variants of Fabry Disease; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Classic Fabry Disease; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis
SNOMED CT: Deficiency of melibiase (124464003); Deficiency of alpha-galactosidase (124464003); Fabry's disease (16652001); Hereditary dystopic lipidosis (16652001); Thesaurismosis lipoidica (16652001); Ceramide trihexosidase deficiency (16652001); Lactosyl ceramidosis (16652001); Ceramide lactoside lipidosis (16652001); alpha-Galactosidase-A deficiency (16652001); Angiokeratoma corporis diffusum universale (16652001); GLA deficiency (16652001); Thesaurismosis hereditaria (16652001); Cardiovasorenal syndrome (16652001); Ruiter-Pompen syndrome (16652001); Anderson-Fabry disease (16652001); Sweeley-Klionsky disease (16652001); Alpha-galactosidase A deficiency (16652001); Angiokeratoma corporis diffusum (16652001); Fabry disease (16652001)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Gene (location): GLA (Xq22.1)
 
HPO: HP:0001071
Monarch Initiative: MONDO:0010526
OMIM®: 301500
Orphanet: ORPHA324

Disease characteristics

Excerpted from the GeneReview: Fabry Disease
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% α-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% α-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack. [from GeneReviews]
Authors:
Atul Mehta  |  Derralynn A Hughes   view full author information

Additional descriptions

From OMIM
Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body (Nance et al., 2006). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities (Schiffmann, 2009). An atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity (Nakao et al., 1995; Nakao et al., 2003). Although Fabry disease was previously considered to be an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients. Clarke (2007) and Schiffmann (2009) provided detailed reviews of Fabry disease.  http://www.omim.org/entry/301500
From MedlinePlus Genetics
Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Additional signs and symptoms are possible, which can vary among affected individuals.

Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.  https://medlineplus.gov/genetics/condition/fabry-disease

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Lipiduria
MedGen UID:
581076
Concept ID:
C0392178
Finding
An increased lipid content in the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Urinary mulberry cells
MedGen UID:
1685259
Concept ID:
C5209287
Finding
Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
An abnormality affecting one or both hands.
Angina pectoris
MedGen UID:
1929
Concept ID:
C0002962
Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Transient ischemic attack
MedGen UID:
853
Concept ID:
C0007787
Disease or Syndrome
A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Myocardial infarction
MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Ventricular septal hypertrophy
MedGen UID:
138013
Concept ID:
C0344955
Finding
The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Tenesmus
MedGen UID:
115914
Concept ID:
C0232726
Sign or Symptom
A repeated, painful urge to defecate without excreting stool.
Abnormal autonomic nervous system physiology
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Muscle spasm
MedGen UID:
52431
Concept ID:
C0037763
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Airway obstruction
MedGen UID:
1387
Concept ID:
C0001883
Disease or Syndrome
Obstruction of conducting airways of the lung.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Pathologic Function
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Elevated circulating globotriaosylceramide concentration
MedGen UID:
1784101
Concept ID:
C5539707
Finding
Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.
Angiokeratoma
MedGen UID:
1542
Concept ID:
C0002985
Neoplastic Process
Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Fabry disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Fabry disease in Orphanet.

Conditions with this feature

Fabry disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.
Aspartylglucosaminuria
MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
Infantile GM1 gangliosidosis
MedGen UID:
75665
Concept ID:
C0268271
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.
Alpha-N-acetylgalactosaminidase deficiency type 2
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Angiokeratoma corporis diffusum with arteriovenous fistulas
MedGen UID:
324953
Concept ID:
C1838141
Disease or Syndrome

Professional guidelines

PubMed

van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M
J Inherit Metab Dis 2020 Sep;43(5):908-921. Epub 2020 Mar 2 doi: 10.1002/jimd.12228. PMID: 32083331Free PMC Article
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR
Mol Genet Metab 2018 Apr;123(4):416-427. Epub 2018 Feb 28 doi: 10.1016/j.ymgme.2018.02.014. PMID: 29530533

Curated

Gal A, Beck M, Winchester B
Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.178. PMID: 21934708Free PMC Article

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased a-galactosidase A, Fabry Disease, 2022

American College of Medical Genetics and Genomics, Algorithm, Alpha-galactosidase A (alpha- gal A) Deficiency, 2022

Recent clinical studies

Etiology

Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A
Mol Genet Metab 2022 Sep-Oct;137(1-2):49-61. Epub 2022 Jul 26 doi: 10.1016/j.ymgme.2022.07.010. PMID: 35926321
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S
Mol Genet Genomic Med 2021 May;9(5):e1666. Epub 2021 Apr 9 doi: 10.1002/mgg3.1666. PMID: 33835733Free PMC Article
McCafferty EH, Scott LJ
Drugs 2019 Apr;79(5):543-554. doi: 10.1007/s40265-019-01090-4. PMID: 30875019Free PMC Article
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE
J Am Soc Nephrol 2017 May;28(5):1631-1641. Epub 2016 Dec 15 doi: 10.1681/ASN.2016090964. PMID: 27979989Free PMC Article
Schiffmann R
Handb Clin Neurol 2015;132:231-48. doi: 10.1016/B978-0-444-62702-5.00017-2. PMID: 26564084

Diagnosis

Simonetta I, Tuttolomondo A, Daidone M, Pinto A
Int J Mol Sci 2020 Oct 29;21(21) doi: 10.3390/ijms21218080. PMID: 33138098Free PMC Article
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F
Am J Med Sci 2020 Dec;360(6):641-649. Epub 2020 Jul 10 doi: 10.1016/j.amjms.2020.07.011. PMID: 32723516
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR
Mol Genet Metab 2018 Apr;123(4):416-427. Epub 2018 Feb 28 doi: 10.1016/j.ymgme.2018.02.014. PMID: 29530533
Schiffmann R
Handb Clin Neurol 2015;132:231-48. doi: 10.1016/B978-0-444-62702-5.00017-2. PMID: 26564084

Therapy

Weidemann F, Jovanovic A, Herrmann K, Vardarli I
Int J Mol Sci 2022 Feb 8;23(3) doi: 10.3390/ijms23031887. PMID: 35163813Free PMC Article
Azevedo O, Gago MF, Miltenberger-Miltenyi G, Sousa N, Cunha D
Int J Mol Sci 2020 Dec 28;22(1) doi: 10.3390/ijms22010206. PMID: 33379210Free PMC Article
van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M
J Inherit Metab Dis 2020 Sep;43(5):908-921. Epub 2020 Mar 2 doi: 10.1002/jimd.12228. PMID: 32083331Free PMC Article
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR
Mol Genet Metab 2018 Apr;123(4):416-427. Epub 2018 Feb 28 doi: 10.1016/j.ymgme.2018.02.014. PMID: 29530533

Prognosis

Azevedo O, Cordeiro F, Gago MF, Miltenberger-Miltenyi G, Ferreira C, Sousa N, Cunha D
Int J Mol Sci 2021 Apr 23;22(9) doi: 10.3390/ijms22094434. PMID: 33922740Free PMC Article
Simonetta I, Tuttolomondo A, Daidone M, Pinto A
Int J Mol Sci 2020 Oct 29;21(21) doi: 10.3390/ijms21218080. PMID: 33138098Free PMC Article
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Sène D
Joint Bone Spine 2018 Oct;85(5):553-559. Epub 2017 Nov 16 doi: 10.1016/j.jbspin.2017.11.002. PMID: 29154979
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE
J Am Soc Nephrol 2017 May;28(5):1631-1641. Epub 2016 Dec 15 doi: 10.1681/ASN.2016090964. PMID: 27979989Free PMC Article

Clinical prediction guides

Tuttolomondo A, Simonetta I, Riolo R, Todaro F, Di Chiara T, Miceli S, Pinto A
Int J Mol Sci 2021 Sep 18;22(18) doi: 10.3390/ijms221810088. PMID: 34576250Free PMC Article
Lenders M, Brand E
Nephrol Dial Transplant 2021 Jun 22;36(Suppl 2):14-23. doi: 10.1093/ndt/gfab038. PMID: 34153986
Simonetta I, Tuttolomondo A, Daidone M, Pinto A
Int J Mol Sci 2020 Oct 29;21(21) doi: 10.3390/ijms21218080. PMID: 33138098Free PMC Article
Svarstad E, Marti HP
Clin J Am Soc Nephrol 2020 Apr 7;15(4):569-576. Epub 2020 Mar 4 doi: 10.2215/CJN.09480819. PMID: 32132142Free PMC Article
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269

Recent systematic reviews

Palaiodimou L, Stefanou MI, Bakola E, Papadopoulou M, Kokotis P, Vrettou AR, Kapsia E, Petras D, Anastasakis A, Xifaras N, Karachaliou E, Touloumi G, Vlachopoulos C, Boletis IN, Giannopoulos S, Tsivgoulis G, Zompola C
Neurology 2022 Nov 8;99(19):e2188-e2200. doi: 10.1212/WNL.0000000000201102. PMID: 36344272
Biffi E, Turple Z, Chung J, Biffi A
PLoS One 2022;17(4):e0266974. Epub 2022 Apr 14 doi: 10.1371/journal.pone.0266974. PMID: 35421194Free PMC Article
Radulescu D, Crisan D, Militaru V, Buzdugan E, Stoicescu L, Grosu A, Vlad C, Grapa C, Radulescu ML
J Gastrointestin Liver Dis 2022 Mar 19;31(1):98-106. doi: 10.15403/jgld-3855. PMID: 35306547
Tucker KL, Sheppard JP, Stevens R, Bosworth HB, Bove A, Bray EP, Earle K, George J, Godwin M, Green BB, Hebert P, Hobbs FDR, Kantola I, Kerry SM, Leiva A, Magid DJ, Mant J, Margolis KL, McKinstry B, McLaughlin MA, Omboni S, Ogedegbe O, Parati G, Qamar N, Tabaei BP, Varis J, Verberk WJ, Wakefield BJ, McManus RJ
PLoS Med 2017 Sep;14(9):e1002389. Epub 2017 Sep 19 doi: 10.1371/journal.pmed.1002389. PMID: 28926573Free PMC Article
Søndergaard CB, Nielsen JE, Hansen CK, Christensen H
Clin Neurol Neurosurg 2017 Apr;155:45-57. Epub 2017 Feb 22 doi: 10.1016/j.clineuro.2017.02.015. PMID: 28254515

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased a-galactosidase A, Fabry Disease, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Alpha-galactosidase A (alpha- gal A) Deficiency, 2022
    • EuroGentest, 2011
      Clinical utility gene card for: Fabry disease.

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