FD
MCID: FBR012
MIFTS: 88

Fabry Disease (FD) malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Summaries for Fabry Disease

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Sources:
42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells and affects many parts of the body. signs and symptoms may 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 of the front part of the eye (corneal opacity); and hearing loss. potentially severe complications can include progressive kidney damage, heart attack, and stroke. milder forms of the disorder may appear later in life and affect only the heart or kidneys. fabry disease is caused by mutations in the gla gene and is inherited in an x-linked manner. treatment may include enzyme replacement therapy (ert); pain medications, ace inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease. last updated: 7/28/2011

MalaCards: Fabry Disease, also known as alpha-galactosidase a deficiency, is related to fucosidosis and angiokeratoma, and has symptoms including cardiomyopathy/hypertrophic/dilated, chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome and respiratory distress/dyspnea/respiratory failure/lung volume reduction. An important gene associated with Fabry Disease is GLA (galactosidase, alpha), and among its related pathways are Other glycan degradation and Glycosphingolipid biosynthesis - globo series. The drug agalsidase beta and the compounds conduritol b epoxide and verotoxins have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related mouse phenotypes are normal and behavior/neurological.

NINDS:43 Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.

Genetics Home Reference:21 Fabry disease is an inherited disorder that results from the buildup of a particular 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 of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

Wikipedia:63 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... more...

Description from OMIM:46 301500

GeneReviews summary for fabry

Aliases & Classifications for Fabry Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
fabry disease:
Inheritance: X-linked recessive; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

fabry disease 8 9 63 19 42 21 43 46 10 44 48 60
alpha-galactosidase a deficiency 8 63 19 42 21 48
angiokeratoma corporis diffusum 8 63 42 21 48
anderson-fabry disease 63 19 42 21 48
fabry's disease 8 20 22 21
ceramide trihexosidase deficiency 63 42 21
hereditary dystopic lipidosis 63 21
angiokeratoma diffuse 63 21
gla deficiency 63 21
alpha galactosidase deficiency 8
deficiency of melibiase 8
angiokeratoma, diffuse 42
diffuse angiokeratoma 48
galactosidase, alpha 9
fd 48


External Ids:

Disease Ontology8 DOID:14499
OMIM46 301500
SNOMED-CT via Orphanet57 16652001, 124464003
UMLS via Orphanet61 C0002986
MESH via Orphanet35 D000795
ICD10 via Orphanet26 E75.2

Related Diseases for Fabry Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Fabry Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis30.9NAGA, FUCA1
2angiokeratoma30.9NAGA, FUCA1, GLA
3kanzaki disease30.5NAGA
4lysosomal storage disease30.4M6PR
5atherosclerosis30.3CST3, ADPRH, CHIT1, SERPINF2, GLA, UGCG
6hypertension30.3DBH, CST3
7amyloidosis30.1DBH, CST3
8sphingolipidosis30.1PSAP, ARSA, GBA, ADPRH
9multiple sclerosis30.1CHIT1, CST3
10gangliosidosis29.9PSAP
11mucopolysaccharidosis29.9ARSA, GUSB
12gangliosidosis gm129.9GLA, PSAP, ARSA
13tay-sachs disease29.9PSAP, ARSA, GLA
14gingivitis29.9CST3, GUSB
15angiokeratoma corporis diffusum with arteriovenous fistulas10.6
16beta-mannosidosis10.5
17schindler disease10.5
18hypertrophic cardiomyopathy10.4
19kidney disease10.4
20neurologic diseases10.4
21neuropathy10.4
22riley-day syndrome10.4
23arteriovenous fistula10.4
24aspartylglucosaminuria10.4
25angiokeratoma circumscriptum10.4
26n syndrome10.4
27diarrhea10.4
28myocardial infarction10.4
29schindler disease, type 110.4
30mccallum macadam johnston syndrome10.4
31skin disease10.3
32vascular disease10.3
33cerebritis10.3
34brain disease10.3
35proteinuria10.3
36dyspepsia10.3
37stroke, ischemic10.2
38aortic disease10.2
39cerebrovascular disease10.2
40meningitis10.2
41nervous system disease10.2
42macular corneal dystrophy10.2
43corneal dystrophy10.2
44priapism10.1
45neuronitis10.1
46end stage renal failure10.1
47capillary disease10.1
48chronic meningitis10.1
49hemorrhagic disease10.1
50inner ear disease10.1

Graphical network of the top 20 diseases related to Fabry Disease:



Diseases related to fabry disease

Clinical Features for Fabry Disease

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

301500

Clinical synopsis from OMIM:

301500

Symptoms:

48 (show all 66)
  • cardiomyopathy/hypertrophic/dilated
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • myocardium anomalies/myocarditis
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • sensorineural deafness/hearing loss
  • dizziness
  • short stature/dwarfism/nanism
  • lipidosis/sulfatidosis
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • anorexia
  • endocardium anomalies/fibroelastosis/endocarditis
  • cardiac rhythm disorder/arrhythmia
  • telangiectasiae of mucosae
  • fever/chilling
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychic/psychomotor regression/dementia/intellectual decline
  • hyperesthesia/allodynia/hyperalgia
  • diabetes insipidus
  • renal glomerular defect/glomerulopathy
  • lymphedema
  • chronic arterial hypertension
  • angor pectoris/myocardial infarction
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/behavioural troubles
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • heart/cardiac failure
  • renal failure
  • nephrotic syndrome
  • hematuria/microhematuria
  • transient cerebral ischemia/stroke
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • telangiectasiae of the skin
  • corneal dystrophy
  • conjunctival telangiectasia
  • hearing loss/hypoacusia/deafness
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • vascular anomalies of skin/mucosae
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • renal disease/nephropathy
  • renal tubular defect/tubulopathy
  • proteinuria
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • emphysema
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • arthritis/synovitis/synovial proliferation
  • anaemia
  • x-linked recessive inheritance
  • asthenia/fatigue/weakness
  • coarse face
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • thick lips
  • corneal clouding/opacity/vascularisation

Drugs & Therapeutics for Fabry Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Fabry Disease

Drug clinical trials:

Search ClinicalTrials for Fabry Disease

Search NIH Clinical Center for Fabry Disease

Search CenterWatch for Fabry Disease

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Fabry Disease

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Fabry Disease:

id Genetic test Affiliating Genes
1 Fabry Disease20 GLA
2 Fabry's Disease22

Anatomical Context for Fabry Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Fabry Disease:

32
Skin, Heart, Kidney, Eye, Endothelial, Testes, Lung, Brain, Bone, T cells, Thyroid, Bone marrow, Myeloid, Adipocyte, Colon

Animal Models for Fabry Disease or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Fabry Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.8GUSB, UGCG, GRINA, DBH, GBA, NAIP
2MP:00053869.4M6PR, PSAP, GUSB, ARSA, UGCG, DBH
3MP:00053769.2SERPINF2, M6PR, CST3, PSAP, GUSB, ARSA

Publications for Fabry Disease

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Sources:
50PubMed
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Articles related to Fabry Disease:

(show top 50)    (show all 633)
idTitleAuthorsYear
1
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease. (23974650)
2014
2
Cardiac device-related endocarditis in the patient with end-stage renal failure in the course of Fabry disease. (23813154)
2013
3
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. (23023720)
2013
4
Electron-microscopy of cherry haemangioma in the early diagnosis of Fabry disease. (23138542)
2013
5
Anderson Fabry disease: a multiorgan metabolic disease susceptible of treatment. (23448458)
2013
6
Long-term effect of enzyme replacement therapy with fabry disease. (24223040)
2013
7
Small lymphocytic lymphoma in a patient with Fabry disease. (22694792)
2013
8
Fabry disease: a review of ophthalmic and systemic manifestations. (23334311)
2013
9
Enzyme replacement therapy improves cardiac features and severity of Fabry disease. (22704481)
2012
10
Fabry disease: raising awareness of the disease among physicians. (23073862)
2012
11
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. (22406371)
2012
12
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. (21517827)
2012
13
Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease. (22450713)
2012
14
Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model. (22425450)
2012
15
New mutations in the GLA gene in Brazilian families with Fabry disease. (22551898)
2012
16
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. (22187137)
2012
17
Prevalence of Fabry disease in TIA/stroke cohorts. What defines Fabry disease? (22672596)
2012
18
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease. (21450622)
2012
19
Novel quantitative method to evaluate globotriaosylceramide inclusions in renal peritubular capillaries by virtual microscopy in patients with fabry disease. (22742555)
2012
20
Brain MRI findings in patients with Fabry disease. (21463870)
2011
21
Myocardial alterations in the murine model of fabry disease can be reversed by enzyme replacement therapy. (21477968)
2011
22
Fabry disease. (21825987)
2011
23
Foot process effacement with normal urinalysis in classic fabry disease. (23430826)
2011
24
When chest pain reveals a Fabry disease. (21239136)
2011
25
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. (22004918)
2011
26
Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new I+-galactosidase mutation of Leu311Arg (L311R). (21755431)
2011
27
Fabry disease superimposed on overt autoimmune hypothyroidism. (23926402)
2011
28
Fabry disease - current treatment and new drug development. (21127742)
2010
29
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. (19773742)
2010
30
Agalsidase treatment for Fabry disease: uses and rivalries. (20975568)
2010
31
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. (20529242)
2010
32
Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea. (21179280)
2010
33
Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy. (20559478)
2010
34
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. (20097359)
2010
35
Introduction to Brazilian Guidelines to Diagnosis, Treatment,and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease. (19810165)
2009
36
Agalsidase alfa and kidney dysfunction in Fabry disease. (19357250)
2009
37
Clinical trial for Fabry disease faces continuing hurdles. (19825933)
2009
38
Abstracts of the 9th Annual European Round Table on Fabry Disease: Enduring Optimal Management of the Fabry Family. Athens, Greece. October 17-18, 2008. (19716969)
2009
39
Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy. (19451361)
2009
40
Hemizygous Fabry disease associated with IgA nephropathy: a case report. (19810002)
2009
41
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. (18769939)
2008
42
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease. (17933476)
2007
43
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. (16972173)
2006
44
Pulmonary involvement in Fabry disease (21290686)
2006
45
Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. (15840043)
2005
46
A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease. (15339079)
2004
47
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer. (12370426)
2002
48
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease. (9452068)
1998
49
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. (8931708)
1996
50
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles. (404411)
1977

Genetic Variations for Fabry Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fabry Disease:

62 (show all 157)
id Symbol AA change Variation ID SNP ID
1GLAp.Leu32ProVAR_000431
2GLAp.Asn34SerVAR_000432rs28935192
3GLAp.Gly35ArgVAR_000433
4GLAp.Pro40SerVAR_000434
5GLAp.Arg49LeuVAR_000435
6GLAp.Cys52ArgVAR_000436
7GLAp.Cys52SerVAR_000437
8GLAp.Cys56PheVAR_000438
9GLAp.Cys56GlyVAR_000439rs28935193
10GLAp.Glu59LysVAR_000440
11GLAp.Glu66GlnVAR_000441rs28935191
12GLAp.Met72ValVAR_000442
13GLAp.Gly85AspVAR_000443
14GLAp.Leu89ArgVAR_000444
15GLAp.Arg100LysVAR_000445
16GLAp.Arg112CysVAR_000447
17GLAp.Arg112HisVAR_000448
18GLAp.Gly128GluVAR_000450
19GLAp.Leu131ProVAR_000451
20GLAp.Cys142TyrVAR_000452
21GLAp.Ala143ProVAR_000453
22GLAp.Gly144ValVAR_000454
23GLAp.Pro146SerVAR_000455rs28935194
24GLAp.Ala156ThrVAR_000456rs28935195
25GLAp.Ala156ValVAR_000457
26GLAp.Trp162ArgVAR_000458rs28935196
27GLAp.Asp165ValVAR_000459
28GLAp.Leu166ValVAR_000460
29GLAp.Cys172TyrVAR_000461
30GLAp.Cys202TrpVAR_000462rs28936082
31GLAp.Pro205ThrVAR_000463
32GLAp.Asn215SerVAR_000464rs28935197
33GLAp.Ile219AsnVAR_000465
34GLAp.Asn224AspVAR_000466
35GLAp.Arg227GlnVAR_000467rs28935198
36GLAp.Asp231AsnVAR_000468
37GLAp.Asp244AsnVAR_000469
38GLAp.Asp264ValVAR_000471rs28935486
39GLAp.Asp266ValVAR_000472rs28935487
40GLAp.Val269AlaVAR_000473rs28935488
41GLAp.Asn272LysVAR_000474
42GLAp.Gln279GluVAR_000475rs28935485
43GLAp.Met284ThrVAR_000476
44GLAp.Ala288AspVAR_000477
45GLAp.Met296ValVAR_000478
46GLAp.Ser297PheVAR_000479rs28935489
47GLAp.Asn298LysVAR_000480
48GLAp.Arg301GlnVAR_000481
49GLAp.Asp313TyrVAR_000482rs28935490
50GLAp.Val316GluVAR_000483
51GLAp.Gln327LysVAR_000484rs28935491
52GLAp.Gly328ArgVAR_000485
53GLAp.Gly328AlaVAR_000486rs28935492
54GLAp.Arg342GlnVAR_000487rs28935493
55GLAp.Arg356TrpVAR_000488
56GLAp.Glu358LysVAR_000489
57GLAp.Gly361ArgVAR_000491rs28935494
58GLAp.Ala20ProVAR_012362
59GLAp.Ala31ValVAR_012363
60GLAp.Pro40LeuVAR_012364
61GLAp.Met42ValVAR_012365
62GLAp.His46ArgVAR_012367
63GLAp.His46TyrVAR_012368
64GLAp.Trp47GlyVAR_012369
65GLAp.Arg49ProVAR_012370
66GLAp.Arg49SerVAR_012371
67GLAp.Cys56TyrVAR_012372
68GLAp.Tyr86CysVAR_012373
69GLAp.Leu89ProVAR_012374
70GLAp.Ile91ThrVAR_012375
71GLAp.Asp92HisVAR_012376
72GLAp.Asp92TyrVAR_012377
73GLAp.Asp93GlyVAR_012378
74GLAp.Cys94SerVAR_012379
75GLAp.Cys94TyrVAR_012380
76GLAp.Trp95SerVAR_012381
77GLAp.Ala97ValVAR_012382
78GLAp.Arg100ThrVAR_012383
79GLAp.Phe113LeuVAR_012384
80GLAp.Phe113SerVAR_012385
81GLAp.Tyr134SerVAR_012386
82GLAp.Gly138ArgVAR_012387
83GLAp.Cys142ArgVAR_012388
84GLAp.Ala143ThrVAR_012389
85GLAp.Ser148AsnVAR_012390
86GLAp.Ser148ArgVAR_012391
87GLAp.Trp162CysVAR_012392
88GLAp.Gly163ValVAR_012393
89GLAp.Asp170ValVAR_012394
90GLAp.Cys172ArgVAR_012395
91GLAp.Gly183AspVAR_012396
92GLAp.Met187ValVAR_012397
93GLAp.Cys202TyrVAR_012398
94GLAp.Tyr216AspVAR_012400
95GLAp.Cys223GlyVAR_012401
96GLAp.Asn224SerVAR_012402
97GLAp.Trp226ArgVAR_012403
98GLAp.Ala230ThrVAR_012404
99GLAp.Ser235CysVAR_012405
100GLAp.Trp236CysVAR_012406
101GLAp.Trp236LeuVAR_012407
102GLAp.Ile242AsnVAR_012408
103GLAp.Asp244HisVAR_012409
104GLAp.Gly258ArgVAR_012410
105GLAp.Pro259LeuVAR_012411
106GLAp.Pro259ArgVAR_012412
107GLAp.Gly260AlaVAR_012413
108GLAp.Gly261AspVAR_012414
109GLAp.Asn263SerVAR_012415
110GLAp.Pro265ArgVAR_012416
111GLAp.Asp266AsnVAR_012418
112GLAp.Met267IleVAR_012419
113GLAp.Gln279HisVAR_012420
114GLAp.Gln280HisVAR_012421
115GLAp.Trp287CysVAR_012422
116GLAp.Trp287GlyVAR_012423
117GLAp.Ile289PheVAR_012424
118GLAp.Met296IleVAR_012425
119GLAp.Asn298HisVAR_012426
120GLAp.Asn298SerVAR_012427
121GLAp.Asn320LysVAR_012430
122GLAp.Asn320TyrVAR_012431
123GLAp.Gln321GluVAR_012432
124GLAp.Trp340ArgVAR_012433
125GLAp.Glu341LysVAR_012434
126GLAp.Arg363HisVAR_012435
127GLAp.Gly373AspVAR_012436
128GLAp.Gly373SerVAR_012437
129GLAp.Ala377AspVAR_012438
130GLAp.Cys378TyrVAR_012439
131GLAp.Pro409AlaVAR_012440
132GLAp.Pro409ThrVAR_012441
133GLAp.Ser65ThrVAR_032290
134GLAp.Asp266HisVAR_032291
135GLAp.Asn272SerVAR_032292rs28935495
136GLAp.Thr410AlaVAR_032293
137GLAp.Met42LeuVAR_062551
138GLAp.Gly43ArgVAR_062552
139GLAp.His46ProVAR_062553
140GLAp.Asp93AsnVAR_062554
141GLAp.Arg112SerVAR_062555
142GLAp.Leu120ValVAR_062556
143GLAp.Ala135ValVAR_062557
144GLAp.Gly171AspVAR_062558
145GLAp.Ser201PheVAR_062559
146GLAp.Ile219ThrVAR_062560
147GLAp.Asp234GluVAR_062561
148GLAp.Asp264TyrVAR_062562
149GLAp.Ser276GlyVAR_062563
150GLAp.Ala285ProVAR_062564
151GLAp.Leu300PheVAR_062565
152GLAp.Gly328ValVAR_062566
153GLAp.Glu338LysVAR_062567
154GLAp.Arg356GlnVAR_062568
155GLAp.Glu358AlaVAR_062569
156GLAp.Gly360CysVAR_062570
157GLAp.Leu414SerVAR_062571

Expression for genes affiliated with Fabry Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fabry Disease

Search GEO for disease gene expression data for Fabry Disease.

Pathways for genes affiliated with Fabry Disease

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Sources:
29KEGG, 53Reactome
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Pathways related to Fabry Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3FUCA1, GBA
210.3A4GALT, NAGA, GLA
3
Hide members
10.1PSAP, ARSA, UGCG, GLA, GBA
4
Hide members
9.8PSAP, GUSB, ARSA, UGCG, ATP6V0A1, PRKAG2
59.8FUCA1, M6PR, PSAP, GUSB, ARSA, ATP6V0A1

Compounds for genes affiliated with Fabry Disease

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Fabry Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1conduritol b epoxide4410.7PSAP, GBA
2verotoxins4410.7GUSB, A4GALT
34-methylumbelliferyl-beta-d-glucoside4410.7PSAP, GBA
41-deoxynojirimycin44 59 1112.6FUCA1, GBA, GLA
5bifidobacterium4410.6GLA, GUSB
6shiga toxin4410.6UGCG, A4GALT
7miglustat44 1111.6GBA, CHIT1, UGCG
8chitin44 2411.6GLA, CHIT1
9dops4410.6DBH, PSAP
10cerebroside4410.6ARSA, GLA
11n-acetylglucosamine4410.6ARSA, CHIT1, NAGA, FUCA1
12percoll4410.6FUCA1, GBA, M6PR
13hippuric acid44 2411.6GLA, DBH
14methanol44 2411.6CST3, GUSB, DBH
15taurocholate4410.5ADPRH, GBA, PSAP
16galactosylceramide4410.5PSAP, ARSA
17glycolipid4410.5PSAP, UGCG, GLA, GBA, NAGA
18hydrogen44 2411.5CST3, ARSA, DBH, GLA, BTK
19lactosylceramide4410.5PSAP, UGCG, GLA, GBA, A4GALT
20ganglioside4410.5PSAP, ARSA, UGCG, GLA, FUCA1
21valine4410.5ADPRH, GLA, ARSA, PSAP
22carbon4410.5PSAP, GLA, NAGA, FUCA1, ADPRH
23glycocholate4410.4GUSB, ADPRH
24sucrose44 11 2412.4M6PR, DBH, GLA, FUCA1
25asparagine4410.4M6PR, ARSA, GBA, SERPINF2, ADPRH
26glycosphingolipid4410.4PSAP, ARSA, UGCG, GLA, GBA, A4GALT
27glucosylceramide44 2411.4PSAP, UGCG, CHIT1, GLA, GBA, A4GALT
28ceramide4410.4PSAP, ARSA, UGCG, GLA, GBA, A4GALT
29methionine4410.4CST3, ARSA, GLA, FUCA1
30galactose4410.3GBA, GLA, UGCG
31mannose4410.3M6PR, ARSA, CHIT1, GLA, GBA, FUCA1
32aspartate4410.3CST3, GUSB, ARSA, GLA, ADPRH
33lactate4410.3CST3, GUSB, ARSA, DBH, GLA, FUCA1
34mannose 6-phosphate44 2411.3ADPRH, M6PR, PSAP, GUSB, ARSA, GLA
35cholesterol44 28 11 2413.2M6PR, CST3, PSAP, UGCG, GBA, SERPINF2
36arginine4410.2M6PR, CST3, PSAP, GLA, BTK, SERPINF2
37sphingosine44 11 2412.2GBA, UGCG, PSAP
38glucose4410.2CST3, PSAP, UGCG, DBH, GLA, GBA
39fibrinogen4410.2CST3, CHIT1, BTK, SERPINF2
40ulinastatin4410.2GUSB, ADPRH
41histamine44 28 2412.1ADPRH, BTK, DBH, GUSB
42polysaccharide4410.1M6PR, CST3, ARSA, CHIT1, GBA, A4GALT
43cysteine4410.1M6PR, CST3, PSAP, ARSA, DBH, BTK
44calcium44 49 11 2413.0CST3, PSAP, GUSB, DBH, GLA, BTK
45lipid4410.0M6PR, CST3, PSAP, ARSA, UGCG, CHIT1
46sulfate44 2411.0ARSA, GUSB, PSAP
47serine449.9M6PR, CST3, PSAP, ARSA, UGCG, DBH

GO Terms for genes affiliated with Fabry Disease

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Sources:
16Gene Ontology
See all sources

Cellular components related to Fabry Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:04323110.1BTK, ATP6V0A1, GUSB, PSAP
2lysosomal lumenGO:04320210.0GBA, GLA, ARSA, GUSB, PSAP
3lysosomeGO:0057649.8ARSA, CHIT1, GLA, NAGA, FUCA1

Biological processes related to Fabry Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:04647710.3NAGA, GLA
2oligosaccharide metabolic processGO:00931110.3NAGA, GLA
3glycoside catabolic processGO:01613910.2GLA, NAGA
4glycosphingolipid metabolic processGO:00668710.2GBA, GLA, UGCG, ARSA, PSAP
5sphingolipid metabolic processGO:00666510.2PSAP, ARSA, UGCG, GLA, GBA
6glycosphingolipid biosynthetic processGO:00668810.0A4GALT, UGCG
7small molecule metabolic processGO:0442819.9PSAP, GUSB, ARSA, UGCG, PRKAG2, DBH

Molecular functions related to Fabry Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:00455710.3NAGA, GLA

Products for genes affiliated with Fabry Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fabry Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet