FD
MCID: FBR012
MIFTS: 74

Fabry Disease (FD) malady

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

Summaries for Fabry Disease

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 corneal clouding/opacity/vascularisation, corneal dystrophy and conjunctival telangiectasia. 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 bone marrow, brain and heart, and related mouse phenotypes are normal and behavior/neurological.

NINDS:44 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:64 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... more...

Description from OMIM:47 301500

GeneReviews summary for fabry

Aliases & Classifications for Fabry Disease

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 20GeneTests, 22GTR, 57SNOMED-CT, 40NCIt, 35MeSH, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Cardiovascular, Nephrological, Skin, Metabolic


Characteristics (Orphanet epidemiological data):

49
fabry disease:
Inheritance: X-linked recessive; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

fabry disease 8 9 64 19 43 21 44 47 10 45 49 61
alpha-galactosidase a deficiency 8 64 19 43 21 49
angiokeratoma corporis diffusum 8 64 43 21 49
anderson-fabry disease 64 19 43 21 49
fabry's disease 8 20 22 21
ceramide trihexosidase deficiency 64 43 21
hereditary dystopic lipidosis 64 21
angiokeratoma diffuse 64 21
gla deficiency 64 21
alpha galactosidase deficiency 8
deficiency of melibiase 8
angiokeratoma, diffuse 43
diffuse angiokeratoma 49
galactosidase, alpha 9
fd 49


External Ids:

Disease Ontology8 DOID:14499
OMIM47 301500
SNOMED-CT via Orphanet58 16652001, 124464003
UMLS via Orphanet62 C0002986
MESH via Orphanet36 D000795
ICD10 via Orphanet26 E75.2

Related Diseases for Fabry Disease

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 120)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis30.9NAGA, FUCA1
2angiokeratoma30.9NAGA, FUCA1, GLA
3kanzaki disease30.8NAGA
4sphingolipidosis30.3PSAP, ARSA, GBA, ADPRH
5atherosclerosis30.3CST3, ADPRH, CHIT1, SERPINF2, GLA, UGCG
6amyloidosis30.2DBH, CST3
7angiokeratoma corporis diffusum with arteriovenous fistulas10.6
8classic fabry disease10.6
9beta-mannosidosis10.5
10schindler disease10.5
11hypertrophic cardiomyopathy10.5
12riley-day syndrome10.4
13aspartylglucosaminuria10.4
14angiokeratoma circumscriptum10.4
15n syndrome10.4
16schindler disease, type 110.4
17mccallum macadam johnston syndrome10.4
18galactosialidosis10.4
19mental retardation10.4
20vascular disease10.4
21brain disease10.3
22dyspepsia10.3
23stroke, ischemic10.3
24fabry disease, cardiac variant10.3
25aortic disease10.2
26lip disease10.2
27macular corneal dystrophy10.2
28macular dystrophy10.2
29priapism10.1
30left ventricular noncompaction10.1
31small fiber neuropathy10.1
32atypical and late onset variants of fabry disease10.1
33sleep disorder10.1
34blue rubber bleb nevus syndrome10.1
35sialidosis type i10.1
36atrioventricular block10.0
37corneal disease10.0
38central retinal artery occlusion10.0
39familial mediterranean fever10.0
40syringomyelia10.0
41thalamic disease10.0
42hereditary angioedema10.0
43mucopolysaccharidosis i10.0
44hypohidrosis10.0
45otosclerosis10.0
46carpal tunnel syndrome10.0
47aseptic meningitis10.0
48diabetes insipidus10.0
49refsum disease10.0
50polyarteritis nodosa10.0

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



Diseases related to fabry disease

Clinical Features for Fabry Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

301500

Clinical synopsis from OMIM:

301500

Symptoms:

49 (show all 66)
  • corneal clouding/opacity/vascularisation
  • 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
  • telangiectasiae of the skin
  • telangiectasiae of mucosae
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • 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
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • 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
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • emphysema
  • 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
  • psychic/behavioural troubles
  • anorexia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • lipidosis/sulfatidosis
  • short stature/dwarfism/nanism
  • dizziness
  • sensorineural deafness/hearing loss
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • cardiomyopathy/hypertrophic/dilated
  • myocardium anomalies/myocarditis
  • endocardium anomalies/fibroelastosis/endocarditis
  • cardiac rhythm disorder/arrhythmia
  • angor pectoris/myocardial infarction
  • chronic arterial hypertension
  • lymphedema
  • renal glomerular defect/glomerulopathy
  • diabetes insipidus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperesthesia/allodynia/hyperalgia
  • psychic/psychomotor regression/dementia/intellectual decline
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • fever/chilling

Drugs & Therapeutics for Fabry Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Fabry Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Fabry Disease:

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

Anatomical Context for Fabry Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Fabry Disease:

33
Bone marrow, Brain, Heart, Skeletal muscle, Colon, Adipocyte, Kidney, Lung, Thyroid, Skin, Myeloid, T cells, B lymphoblasts, B cells, Endothelial

Animal Models for Fabry Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fabry Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Fabry Disease:

(show top 50)    (show all 715)
idTitleAuthorsYear
1
Globotriaosylceramide induces lysosomal degradation of endothelial KCa3.1 in fabry disease. (24158513)
2014
2
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. (24020479)
2013
3
Cardiac device-related endocarditis in the patient with end-stage renal failure in the course of Fabry disease. (23813154)
2013
4
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. (23023720)
2013
5
Fabry disease: is there a role for enzyme replacement therapy? (23662843)
2013
6
Thoracic aortic dilation/aneurysm in Fabry disease. (24262735)
2013
7
Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina. (23335703)
2013
8
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. (23564562)
2013
9
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. (23474038)
2013
10
Renal transplantation between siblings with unrecognized Fabry disease. (23375284)
2013
11
Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case-control study. (23705943)
2013
12
Reproducibility of manual and semi-automated late enhancement quantification in patients with Fabry disease. (24078459)
2013
13
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease. (23980562)
2013
14
Fabry disease: raising awareness of the disease among physicians. (23073862)
2012
15
Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease. (21932096)
2012
16
Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. (22309310)
2012
17
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. (22963910)
2012
18
Fabry disease presenting with sudden hearing loss and otosclerosis: a case report. (22507244)
2012
19
Functional transcranial Doppler: presymptomatic changes in Fabry disease. (22572628)
2012
20
Prominent papillary muscles in Fabry disease: a diagnostic marker? (21084151)
2011
21
Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS). (21679285)
2011
22
Enzyme replacement therapy for Fabry disease: some answers but more questions. (21445281)
2011
23
Neuropsychiatric symptoms and brain structural alterations in Fabry disease. (20636371)
2011
24
The relation between small nerve fibre function, age, disease severity and pain in Fabry disease. (21334933)
2011
25
Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique. (21382994)
2011
26
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" I+-galactosidase a large deletion. (21641253)
2011
27
Fabry disease superimposed on overt autoimmune hypothyroidism. (23926402)
2011
28
Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al. (20938807)
2011
29
The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. (20965976)
2010
30
Frequency of Fabry disease in male and female haemodialysis patients in Spain. (20122163)
2010
31
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. (20061327)
2010
32
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. (19773742)
2010
33
Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? (19925601)
2010
34
Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. (19665302)
2009
35
Decreased nitric oxide bioavailability in a mouse model of Fabry disease. (19628671)
2009
36
Fabry disease--pain doctors have to find the missing ones. (19665844)
2009
37
Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease. (18172744)
2008
38
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. (18707907)
2008
39
Fabry's disease. (18940466)
2008
40
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease. (17933476)
2007
41
Neurological manifestations of Fabry disease (21290698)
2006
42
Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. (12538729)
2003
43
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. (8931708)
1996
44
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease. (8996967)
1996
45
Punctate and linear angiectases. Anderson-Fabry disease (angiokeratoma corporis diffusum). (7826103)
1995
46
Mutation analysis in patients with the typical form of Anderson-Fabry disease. (8395937)
1993
47
A case of Fabry's disease associated with lupus nephritis]. (1338214)
1992
48
The renal lesion of angiokeratoma corporis diffusum (Fabry's disease): report of three cases including some electron microscopic findings. (4939080)
1970
49
The value of ocular findings in the diagnosis of angiokeratoma corporis diffusum (Fabry's disease). (5537259)
1970
50
Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. (6018535)
1967

Genetic Variations for Fabry Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fabry Disease:

63 (show all 157)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 54Reactome
See all sources

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

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Fabry Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1conduritol b epoxide4510.7PSAP, GBA
2verotoxins4510.7GUSB, A4GALT
34-methylumbelliferyl-beta-d-glucoside4510.7PSAP, GBA
41-deoxynojirimycin45 60 1112.6FUCA1, GBA, GLA
5bifidobacterium4510.6GLA, GUSB
6shiga toxin4510.6UGCG, A4GALT
7miglustat45 1111.6GBA, CHIT1, UGCG
8chitin45 2411.6GLA, CHIT1
9dops4510.6DBH, PSAP
10cerebroside4510.6ARSA, GLA
11n-acetylglucosamine4510.6ARSA, CHIT1, NAGA, FUCA1
12percoll4510.6FUCA1, GBA, M6PR
13hippuric acid45 2411.6GLA, DBH
14methanol45 2411.6CST3, GUSB, DBH
15taurocholate4510.5ADPRH, GBA, PSAP
16galactosylceramide4510.5PSAP, ARSA
17glycolipid4510.5PSAP, UGCG, GLA, GBA, NAGA
18hydrogen45 2411.5CST3, ARSA, DBH, GLA, BTK
19lactosylceramide4510.5PSAP, UGCG, GLA, GBA, A4GALT
20ganglioside4510.5PSAP, ARSA, UGCG, GLA, FUCA1
21valine4510.5ADPRH, GLA, ARSA, PSAP
22carbon4510.5PSAP, GLA, NAGA, FUCA1, ADPRH
23glycocholate4510.4GUSB, ADPRH
24sucrose45 11 2412.4M6PR, DBH, GLA, FUCA1
25asparagine4510.4M6PR, ARSA, GBA, SERPINF2, ADPRH
26glycosphingolipid4510.4PSAP, ARSA, UGCG, GLA, GBA, A4GALT
27glucosylceramide45 2411.4PSAP, UGCG, CHIT1, GLA, GBA, A4GALT
28ceramide4510.4PSAP, ARSA, UGCG, GLA, GBA, A4GALT
29methionine4510.4CST3, ARSA, GLA, FUCA1
30galactose4510.3GBA, GLA, UGCG
31mannose4510.3M6PR, ARSA, CHIT1, GLA, GBA, FUCA1
32aspartate4510.3CST3, GUSB, ARSA, GLA, ADPRH
33lactate4510.3CST3, GUSB, ARSA, DBH, GLA, FUCA1
34mannose 6-phosphate45 2411.3ADPRH, M6PR, PSAP, GUSB, ARSA, GLA
35cholesterol45 29 11 2413.2M6PR, CST3, PSAP, UGCG, GBA, SERPINF2
36arginine4510.2M6PR, CST3, PSAP, GLA, BTK, SERPINF2
37sphingosine45 11 2412.2GBA, UGCG, PSAP
38glucose4510.2CST3, PSAP, UGCG, DBH, GLA, GBA
39fibrinogen4510.2CST3, CHIT1, BTK, SERPINF2
40ulinastatin4510.2GUSB, ADPRH
41histamine45 29 2412.1ADPRH, BTK, DBH, GUSB
42polysaccharide4510.1M6PR, CST3, ARSA, CHIT1, GBA, A4GALT
43cysteine4510.1M6PR, CST3, PSAP, ARSA, DBH, BTK
44calcium45 50 11 2413.0CST3, PSAP, GUSB, DBH, GLA, BTK
45lipid4510.0M6PR, CST3, PSAP, ARSA, UGCG, CHIT1
46sulfate45 2411.0ARSA, GUSB, PSAP
47serine459.9M6PR, CST3, PSAP, ARSA, UGCG, DBH

GO Terms for genes affiliated with Fabry Disease

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fabry Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet