FD
MCID: FBR012
MIFTS: 81

Fabry Disease (FD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases categories
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Summaries for Fabry Disease

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 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 Glycosphingolipid biosynthesis - globo series and Sphingolipid metabolism. The drug agalsidase beta and the compounds chitin and cerebroside have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related mouse phenotypes are homeostasis/metabolism and immune system.

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.

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.

Wikipedia:65 Fabry disease (/?f??bri/) (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

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 58SNOMED-CT, 40NCIt, 35MeSH, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



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 65 19 43 21 44 47 10 45 49 62
alpha-galactosidase a deficiency 8 65 19 43 21 49
angiokeratoma corporis diffusum 8 65 43 21 49
anderson-fabry disease 65 19 43 21 49
fabry's disease 8 20 22 21
ceramide trihexosidase deficiency 65 43 21
hereditary dystopic lipidosis 65 43 21
gla deficiency 65 43 21
angiokeratoma diffuse 65 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 Orphanet59 16652001, 124464003
UMLS via Orphanet63 C0002986
MESH via Orphanet36 D000795
ICD10 via Orphanet26 E75.2

Related Diseases for Fabry Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Fabry Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.0NAGA, FUCA1
2angiokeratoma30.8GLA, NAGA, FUCA1
3sphingolipidosis30.3GBA, ARSA
4cerebrovascular disease30.1GUSB, GLA, CHIT1
5tay-sachs disease30.0ARSA, GLA
6mucopolysaccharidosis29.9ARSA, GUSB
7splenomegaly29.9GBA, CHIT1
8angiokeratoma corporis diffusum with arteriovenous fistulas10.7
9beta-mannosidosis10.6
10kanzaki disease10.6
11schindler disease10.6
12endotheliitis10.5
13hypertrophic cardiomyopathy10.4
14riley-day syndrome10.4
15arteriovenous fistula10.4
16aspartylglucosaminuria10.4
17angiokeratoma circumscriptum10.4
18diarrhea10.4
19myocardial infarction10.4
20galactosialidosis10.4
21gm1 gangliosidosis type 110.4
22mccallum macadam johnston syndrome10.4
23schindler disease, type 110.4
24mental retardation10.4
25neuropathy10.4
26classic fabry disease10.4
27dyspepsia10.3
28cerebritis10.3
29proteinuria10.3
30atherosclerosis10.3
31macular corneal dystrophy10.2
32corneal dystrophy10.2
33hypertension10.2
34meningitis10.2
35sleep disorder10.1
36blue rubber bleb nevus syndrome10.1
37chitotriosidase deficiency10.1CHIT1
38neuronitis10.1
39priapism10.1
40end stage renal failure10.1
41amyloidosis10.1
42chronic meningitis10.1
43keratopathy10.1
44multiple sclerosis10.1
45myopathy10.1
46retinitis10.1
47left ventricular noncompaction10.1
48small fiber neuropathy10.1
49atypical and late onset variants of fabry disease10.1
50fabry disease, cardiac variant10.1

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



Diseases related to fabry disease

Symptoms for Fabry Disease

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

301500

Clinical features from OMIM:

301500

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Fabry Disease

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Fabry Disease

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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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33MalaCards
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MalaCards organs/tissues related to Fabry Disease:

33
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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37MGI
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MGI Mouse Phenotypes related to Fabry Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0GBA, GUSB, NAGA, BTK, ARSA
2MP:00053877.8GBA, CHIT1, BTK, GLA, ARSA

Publications for Fabry Disease

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Sources:
52PubMed
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Articles related to Fabry Disease:

(show top 50)    (show all 618)
idTitleAuthorsYear
1
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses. (24239767)
2013
2
Fabry disease. (23931807)
2013
3
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. (24020479)
2013
4
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. (23385635)
2013
5
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
6
Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. (23608164)
2013
7
Characterization of Pain in Fabry Disease. (24121530)
2013
8
Cardiac device-related endocarditis in the patient with end-stage renal failure in the course of Fabry disease. (23813154)
2013
9
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. (23023720)
2013
10
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease. (22905681)
2013
11
Ta88 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. (23922004)
2013
12
Fabry disease: is there a role for enzyme replacement therapy? (23662843)
2013
13
Enzyme replacement therapy improves cardiac features and severity of Fabry disease. (22704481)
2012
14
Clinical utility gene card for: Fabry disease. (21934708)
2012
15
Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy. (23118528)
2012
16
Fabry disease: raising awareness of the disease among physicians. (23073862)
2012
17
Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. (21744250)
2012
18
Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients. (22796398)
2012
19
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report. (22682330)
2012
20
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. (22406371)
2012
21
Fabry disease cardiomyopathy: from genes to clinical manifestations. (22280422)
2012
22
Prominent papillary muscles in Fabry disease: a diagnostic marker? (21084151)
2011
23
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. (20851180)
2011
24
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy. (21857019)
2011
25
Fabry disease: results of the first UK hemodialysis screening study. (21612753)
2011
26
Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease. (21700093)
2011
27
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
28
The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. (20965976)
2010
29
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. (20108436)
2010
30
Ocular manifestations of Fabry disease within in a single kindred. (20615758)
2010
31
Fabry disease. (19318041)
2009
32
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. (19852524)
2009
33
Anderson-Fabry disease: developments in diagnosis and treatment. (20040315)
2009
34
Introduction to Brazilian Guidelines to Diagnosis, Treatment,and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease. (19810165)
2009
35
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. (18003767)
2008
36
Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. (17610610)
2007
37
Fabry disease. An interdisciplinary challenge]. (17940933)
2007
38
Effect of renin-angiotensin system in Fabry disease associated proteinuria]. (17397632)
2007
39
Gastrointestinal manifestations of Fabry disease (21290669)
2006
40
Fabry disease. (16511611)
2006
41
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (15712228)
2005
42
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. (16151917)
2005
43
Measurement of renal function in patients with Fabry disease. (15895707)
2005
44
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. (12938095)
2003
45
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (10666480)
1999
46
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease. (9452068)
1998
47
Fabry disease (alpha-galactosidase deficiency)]. (9645084)
1998
48
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. (1315304)
1992
49
Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection]. (1886355)
1991
50
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. (6160883)
1980

Variations for Fabry Disease

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Fabry Disease:

64 (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

Clinvar genetic disease variations for Fabry Disease:

1 (show all 57)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000169.2(GLA): c.1066C> T (p.Arg356Trp)single nucleotide variantPathogenic, Uncertain significancers104894827GRCh37Chr X, 100653021: 100653021
2GLAGLA, EX3DELdeletionPathogenic
3NM_000169.2(GLA): c.902G> A (p.Arg301Gln)single nucleotide variantPathogenicrs104894828GRCh37Chr X, 100653455: 100653455
4NM_000169.2(GLA): c.131G> A (p.Trp44Ter)single nucleotide variantPathogenicrs104894829GRCh37Chr X, 100662761: 100662761
5GLAGLA, EX4DELdeletionPathogenic
6NM_000169.2(GLA): c.118C> T (p.Pro40Ser)single nucleotide variantPathogenicrs104894831GRCh37Chr X, 100662774: 100662774
7GLAGLA, IVS6DS, G-T, +1single nucleotide variantPathogenic
8NM_000169.2(GLA): c.982G> A (p.Gly328Arg)single nucleotide variantPathogenicrs104894832GRCh37Chr X, 100653375: 100653375
9NM_000169.2(GLA): c.196G> C (p.Glu66Gln)single nucleotide variantPathogenicrs104894833GRCh37Chr X, 100658972: 100658972
10NM_000169.2(GLA): c.101A> G (p.Asn34Ser)single nucleotide variantPathogenicrs104894835GRCh37Chr X, 100662791: 100662791
11NM_000169.2(GLA): c.166T> G (p.Cys56Gly)single nucleotide variantPathogenicrs104894836GRCh37Chr X, 100662726: 100662726
12NM_000169.2(GLA): c.436C> T (p.Pro146Ser)single nucleotide variantPathogenicrs104894837GRCh37Chr X, 100656731: 100656731
13NM_000169.2(GLA): c.466G> A (p.Ala156Thr)single nucleotide variantPathogenicrs28935195GRCh37Chr X, 100656701: 100656701
14NM_000169.2(GLA): c.484T> C (p.Trp162Arg)single nucleotide variantPathogenicrs28935196GRCh37Chr X, 100656683: 100656683
15NM_000169.2(GLA): c.606T> G (p.Cys202Trp)single nucleotide variantPathogenicrs104894838GRCh37Chr X, 100655687: 100655687
16NM_000169.2(GLA): c.644A> G (p.Asn215Ser)single nucleotide variantPathogenicrs28935197GRCh37Chr X, 100653930: 100653930
17NM_000169.2(GLA): c.806T> C (p.Val269Ala)single nucleotide variantPathogenicrs28935488GRCh37Chr X, 100653551: 100653551
18NM_000169.2(GLA): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs104894840GRCh37Chr X, 100653894: 100653894
19NM_000169.2(GLA): c.679C> T (p.Arg227Ter)single nucleotide variantPathogenicrs104894841GRCh37Chr X, 100653895: 100653895
20NM_000169.2(GLA): c.791A> T (p.Asp264Val)single nucleotide variantPathogenicrs28935486GRCh37Chr X, 100653783: 100653783
21NM_000169.2(GLA): c.797A> T (p.Asp266Val)single nucleotide variantPathogenicrs28935487GRCh37Chr X, 100653777: 100653777
22NM_000169.2(GLA): c.861G> A (p.Trp287Ter)single nucleotide variantPathogenicrs104894839GRCh37Chr X, 100653496: 100653496
23NM_000169.2(GLA): c.890C> T (p.Ser297Phe)single nucleotide variantPathogenicrs28935489GRCh37Chr X, 100653467: 100653467
24NM_000169.2(GLA): c.979C> A (p.Gln327Lys)single nucleotide variantPathogenicrs28935491GRCh37Chr X, 100653378: 100653378
25NM_000169.2(GLA): c.983G> C (p.Gly328Ala)single nucleotide variantPathogenicrs28935492GRCh37Chr X, 100653374: 100653374
26NM_000169.2(GLA): c.1020G> A (p.Trp340Ter)single nucleotide variantPathogenicrs104894842GRCh37Chr X, 100653067: 100653067
27NM_000169.2(GLA): c.1025G> A (p.Arg342Gln)single nucleotide variantPathogenicrs28935493GRCh37Chr X, 100653062: 100653062
28NM_000169.2(GLA): c.1024C> T (p.Arg342Ter)single nucleotide variantPathogenicrs104894843GRCh37Chr X, 100653063: 100653063
29NM_000169.2(GLA): c.1081G> C (p.Gly361Arg)single nucleotide variantPathogenicrs28935494GRCh37Chr X, 100653006: 100653006
30NM_000169.2(GLA): c.1192G> T (p.Glu398Ter)single nucleotide variantPathogenicrs104894844GRCh37Chr X, 100652895: 100652895
31NM_000169.2(GLA): c.369+2T> Gsingle nucleotide variantPathogenicrs387906483GRCh37Chr X, 100658797: 100658797
32GLAGLA, IVS5AS, DEL -2,-3deletionPathogenic
33NM_000169.2(GLA): c.427G> A (p.Ala143Thr)single nucleotide variantPathogenicrs104894845GRCh37Chr X, 100656740: 100656740
34GLAGLA, 13-BP DEL, NT125deletionPathogenic
35GLAGLA, 1-BP DEL, NT716deletionPathogenic
36GLAGLA, 2-BP DEL, NT773deletionPathogenic
37GLAGLA, 5-BP INS, NT954insertionPathogenic
38GLAGLA, 11-BP DEL, NT1016deletionPathogenic
39GLAGLA, 1-BP INS, NT1040insertionPathogenic
40GLAGLA, 53-BP DEL, NT1123deletionPathogenic
41GLAGLA, 2-BP DEL, NT1176deletionPathogenic
42GLAGLA, 3-BP DEL, 1208AAGdeletionPathogenic
43GLAGLA, EX1-2DELdeletionPathogenic
44GLAGLA, EX3-4DELdeletionPathogenic
45GLAGLA, EX3-7DELdeletionPathogenic
46GLAGLA, EX6-7DELdeletionPathogenic
47GLAGLA, EX2-6DUPduplicationPathogenic
48GLAGLA, 3-BP DEL, PHE383DELdeletionPathogenic
49NM_000169.2(GLA): c.194G> C (p.Ser65Thr)single nucleotide variantPathogenicrs104894848GRCh37Chr X, 100662698: 100662698
50NM_000169.2(GLA): c.1095T> A (p.Tyr365Ter)single nucleotide variantPathogenicrs104894849GRCh37Chr X, 100652992: 100652992
51NM_000169.2(GLA): c.427G> C (p.Ala143Pro)single nucleotide variantPathogenicrs104894845GRCh37Chr X, 100656740: 100656740
52NM_000169.2(GLA): c.666C> A (p.Tyr222Ter)single nucleotide variantPathogenicrs104894851GRCh37Chr X, 100653908: 100653908
53NM_000169.2(GLA): c.1228A> G (p.Thr410Ala)single nucleotide variantPathogenicrs104894852GRCh37Chr X, 100652859: 100652859
54GLAGLA, 2-BP DEL, 1277AAdeletionPathogenic
55GLAGLA, 4-BP DEL, 1284ACTTdeletionPathogenic
56NM_000169.2(GLA): c.815A> G (p.Asn272Ser)single nucleotide variantPathogenicrs28935495GRCh37Chr X, 100653542: 100653542
57NM_000169.2(GLA): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs104894834GRCh37Chr X, 100658834: 100658834

Expression for genes affiliated with Fabry Disease

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Sources:
2BioGPS, 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

About this section
Sources:
50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to Fabry Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GLA, NAGA
2
Show member pathways
9.2GBA, GLA, ARSA
39.1FUCA1, GBA
47.4ARSA, GLA, NAGA, GUSB, FUCA1, GBA

Compounds for genes affiliated with Fabry Disease

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience
See all sources

Compounds related to Fabry Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1chitin45 2411.1GLA, CHIT1
2cerebroside4510.1GLA, ARSA
3bifidobacterium4510.0GUSB, GLA
4lactosylceramide4510.0GLA, GBA
5D-Glucose2410.0GLA, GBA
6miglustat45 1110.9GBA, CHIT1
7Galabiosylceramide (d18:1/20:0)249.9GLA, GBA
8Galabiosylceramide (d18:1/18:0)249.9GLA, GBA
9Galabiosylceramide (d18:1/16:0)249.9GBA, GLA
10Galabiosylceramide (d18:1/22:0)249.9GLA, GBA
11Galabiosylceramide (d18:1/25:0)249.9GBA, GLA
12Galabiosylceramide (d18:1/26:0)249.9GBA, GLA
13Galabiosylceramide (d18:1/26:1(17Z))249.8GLA, GBA
14Galabiosylceramide (d18:1/9Z-18:1)249.8GLA, GBA
15Galabiosylceramide (d18:1/24:1(15Z))249.8GBA, GLA
16Galabiosylceramide (d18:1/24:0)249.8GBA, GLA
17Tetrahexosylceramide (d18:1/12:0)249.7GBA, NAGA
18Trihexosylceramide (d18:1/24:0)249.7GBA, GLA
19Trihexosylceramide (d18:1/22:0)249.7GLA, GBA
20glycolipid459.7GLA, GBA, NAGA
21glutaraldehyde459.6FUCA1, GLA
22Trihexosylceramide (d18:1/20:0)249.6GBA, GLA
23glucosylceramide45 2410.6GLA, CHIT1, GBA
24Trihexosylceramide (d18:1/12:0)249.6GLA, GBA
25glycosphingolipid459.6GLA, ARSA, GBA
26Galactosylceramide (d18:1/18:1(9Z))249.6GBA, GLA, ARSA
27Galactosylceramide (d18:1/16:0)249.6GBA, GLA, ARSA
28Galactosylceramide (d18:1/18:0)249.6ARSA, GLA, GBA
29Galactosylceramide (d18:1/22:0)249.6GBA, GLA, ARSA
30Galactosylceramide (d18:1/24:1(15Z))249.6ARSA, GLA, GBA
31Galactosylceramide (d18:1/26:1(17Z))249.6GBA, ARSA, GLA
32Galactosylceramide (d18:1/20:0)249.6GBA, GLA, ARSA
33ceramide459.5GLA, ARSA, GBA
34Trihexosylceramide (d18:1/18:0)249.5GBA, GLA
35percoll459.5FUCA1, GBA
36Trihexosylceramide (d18:1/16:0)249.3GBA, GLA
37carbon459.3NAGA, GLA, FUCA1
38ganglioside459.3ARSA, GLA, FUCA1
391-deoxynojirimycin61 45 1111.2GLA, FUCA1, GBA
40methionine459.2FUCA1, GLA, ARSA
41proline459.2ARSA, BTK, GBA
42hydrogen45 249.9GLA, BTK, ARSA, GBA
43n-acetylglucosamine458.9FUCA1, CHIT1, ARSA, NAGA
44glucose458.7GBA, FUCA1, NAGA, GLA
45lactate458.7ARSA, FUCA1, GUSB, GLA
46polysaccharide458.7FUCA1, ARSA, CHIT1, GBA
47lipid458.5GBA, CHIT1, BTK, GLA, ARSA
48mannose458.4CHIT1, FUCA1, GBA, GLA, ARSA
49mannose 6-phosphate45 249.3GUSB, ARSA, GLA, FUCA1, GBA
50Water247.5FUCA1, GUSB, NAGA, CHIT1, GLA, ARSA

GO Terms for genes affiliated with Fabry Disease

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432028.6ARSA, GLA, GUSB, GBA
2lysosomeGO:0057647.8ARSA, GLA, CHIT1, NAGA, FUCA1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:0464779.9NAGA, GLA
2oligosaccharide metabolic processGO:0093119.8GLA, NAGA
3response to pHGO:0092689.6GBA, ARSA
4glycosphingolipid metabolic processGO:0066879.3ARSA, GLA, GBA
5sphingolipid metabolic processGO:0066659.3ARSA, GLA, GBA
6response to estrogenGO:0436279.2GBA, ARSA
7glycoside catabolic processGO:0161399.1GLA, NAGA, FUCA1
8glycosaminoglycan catabolic processGO:0060279.0GUSB, FUCA1
9small molecule metabolic processGO:0442818.6ARSA, GLA, GUSB, GBA

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

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:0045579.8GLA, NAGA

Products for genes affiliated with Fabry Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fabry Disease

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet