FD
MCID: FBR012
MIFTS: 86

Fabry Disease (FD) malady

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

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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 based summary: 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 Glycosphingolipid biosynthesis - globo series and Other glycan degradation. The drug agalsidase beta and the compounds chitin and bifidobacterium have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related mouse phenotypes are behavior/neurological 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: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.

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

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Fabry Disease, Aliases & Descriptions:

Name: Fabry Disease 8 9 65 19 42 21 43 46 10 44 48 62
Alpha-Galactosidase a Deficiency 8 65 19 42 21 48 62
Angiokeratoma Corporis Diffusum 8 65 42 21 48 62
Anderson-Fabry Disease 65 19 42 21 48 62
Ceramide Trihexosidase Deficiency 65 42 21 62
Hereditary Dystopic Lipidosis 65 42 21 62
Fabry's Disease 8 20 22 21
Gla Deficiency 65 42 21 62
 
Alpha Galactosidase Deficiency 8 62
Deficiency of Melibiase 8 62
Angiokeratoma, Diffuse 42 62
Angiokeratoma Diffuse 65 21
Diffuse Angiokeratoma 48
Galactosidase, Alpha 9
Fd 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14499
OMIM46 301500
MESH via Orphanet35 D000795
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C0002986

Related Diseases for Fabry Disease

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.5FUCA1, NAGA
2angiokeratoma31.3FUCA1, NAGA, GLA
3gm1 gangliosidosis type 130.9GLA, PSAP, ARSA
4sphingolipidosis30.4PSAP, GBA, ARSA
5mucopolysaccharidosis30.4ARSA, GUSB
6cerebrovascular disease30.3CHIT1, GUSB, GLA
7splenomegaly30.3CHIT1, GBA
8angiokeratoma corporis diffusum with arteriovenous fistulas10.7
9schindler disease10.7
10mannosidosis10.6
11beta-mannosidosis10.6
12kanzaki disease10.6
13endotheliitis10.5
14chitotriosidase deficiency10.5CHIT1
15hypertrophic cardiomyopathy10.5
16riley-day syndrome10.4
17neuropathy10.4
18arteriovenous fistula10.4
19myocardial infarction10.4
20aspartylglucosaminuria10.4
21angiokeratoma circumscriptum10.4
22diarrhea10.4
23galactosialidosis10.4
24mccallum macadam johnston syndrome10.4
25schindler disease, type 110.4
26mental retardation10.4
27classic fabry disease10.4
28dyspepsia10.3
29danon disease10.3PRKAG2
30gaucher disease type 110.3GBA, CHIT1
31leukodystrophy10.3PSAP
32cerebritis10.3
33proteinuria10.3
34mucolipidosis iii alpha/beta10.3FUCA1, GUSB
35atherosclerosis10.3
36hydrops fetalis10.3GUSB, GBA
37mucolipidosis10.3NAGA, PSAP
38niemann-pick disease10.2CHIT1, PSAP
39metachromatic leukodystrophy10.2ARSA, PSAP
40macular corneal dystrophy10.2
41corneal dystrophy10.2
42gaucher disease type 310.2PSAP, GBA
43gaucher disease type 210.2GBA, PSAP
44kidney disease10.2
45meningitis10.2
46left ventricular noncompaction10.2
47small fiber neuropathy10.2
48sickle cell disease10.2GLA, GUSB
49tay-sachs disease10.2ARSA, PSAP, GLA
50krabbe disease10.1ARSA, PSAP, CHIT1

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



Diseases related to fabry disease

Symptoms for Fabry Disease

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Symptoms by clinical synopsis from OMIM:

301500

Clinical features from OMIM:

301500

Symptoms:

48 (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

HPO human phenotypes related to Fabry Disease:

(show all 84)
id Description Frequency HPO Source Accession
1 renal insufficiency hallmark (90%) HP:0000083
2 nephrotic syndrome hallmark (90%) HP:0000100
3 conjunctival telangiectasia hallmark (90%) HP:0000524
4 hematuria hallmark (90%) HP:0000790
5 hyperkeratosis hallmark (90%) HP:0000962
6 hypohidrosis hallmark (90%) HP:0000966
7 corneal dystrophy hallmark (90%) HP:0001131
8 arthritis hallmark (90%) HP:0001369
9 congestive heart failure hallmark (90%) HP:0001635
10 anemia hallmark (90%) HP:0001903
11 malabsorption hallmark (90%) HP:0002024
12 abdominal pain hallmark (90%) HP:0002027
13 cerebral ischemia hallmark (90%) HP:0002637
14 arthralgia hallmark (90%) HP:0002829
15 myalgia hallmark (90%) HP:0003326
16 paresthesia hallmark (90%) HP:0003401
17 opacification of the corneal stroma hallmark (90%) HP:0007759
18 teleangiectasia of the skin hallmark (90%) HP:0100585
19 abnormality of the genital system typical (50%) HP:0000078
20 abnormality of the renal tubule typical (50%) HP:0000091
21 proteinuria typical (50%) HP:0000093
22 nephropathy typical (50%) HP:0000112
23 thick lower lip vermilion typical (50%) HP:0000179
24 coarse facial features typical (50%) HP:0000280
25 cataract typical (50%) HP:0000518
26 optic atrophy typical (50%) HP:0000648
27 behavioral abnormality typical (50%) HP:0000708
28 abnormality of the mitral valve typical (50%) HP:0001633
29 abnormality of the aortic valve typical (50%) HP:0001646
30 nausea and vomiting typical (50%) HP:0002017
31 anorexia typical (50%) HP:0002039
32 emphysema typical (50%) HP:0002097
33 abnormality of lipid metabolism typical (50%) HP:0003119
34 short stature typical (50%) HP:0004322
35 arrhythmia typical (50%) HP:0011675
36 cognitive impairment typical (50%) HP:0100543
37 sensorineural hearing impairment occasional (7.5%) HP:0000407
38 behavioral abnormality occasional (7.5%) HP:0000708
39 hypertension occasional (7.5%) HP:0000822
40 diabetes insipidus occasional (7.5%) HP:0000873
41 lymphedema occasional (7.5%) HP:0001004
42 seizures occasional (7.5%) HP:0001250
43 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
44 coronary artery disease occasional (7.5%) HP:0001677
45 respiratory insufficiency occasional (7.5%) HP:0002093
46 vertigo occasional (7.5%) HP:0002321
47 developmental regression occasional (7.5%) HP:0002376
48 abnormality of the femur occasional (7.5%) HP:0002823
49 abnormality of the endocardium occasional (7.5%) HP:0004306
50 reduced bone mineral density occasional (7.5%) HP:0004349
51 abnormality of temperature regulation occasional (7.5%) HP:0004370
52 chronic obstructive pulmonary disease occasional (7.5%) HP:0006510
53 arrhythmia occasional (7.5%) HP:0011675
54 glomerulopathy occasional (7.5%) HP:0100820
55 renal insufficiency HP:0000083
56 proteinuria HP:0000093
57 hypertension HP:0000822
58 delayed puberty HP:0000823
59 hypohidrosis HP:0000966
60 lymphedema HP:0001004
61 angiokeratoma HP:0001014
62 corneal dystrophy HP:0001131
63 abnormality of the hand HP:0001155
64 seizures HP:0001250
65 x-linked recessive inheritance HP:0001419
66 congestive heart failure HP:0001635
67 myocardial infarction HP:0001658
68 angina pectoris HP:0001681
69 left ventricular hypertrophy HP:0001712
70 anemia HP:0001903
71 vomiting HP:0002013
72 diarrhea HP:0002014
73 nausea HP:0002018
74 abdominal pain HP:0002027
75 transient ischemic attack HP:0002326
76 fasciculations HP:0002380
77 dysautonomia HP:0002459
78 muscle cramps HP:0003394
79 paresthesia HP:0003401
80 juvenile onset HP:0003621
81 left ventricular septal hypertrophy HP:0005144
82 obstructive lung disease HP:0006536
83 arrhythmia HP:0011675
84 tenesmus HP:0012702

Drugs & Therapeutics for Fabry Disease

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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-RT40:

Genetic Tests for Fabry Disease

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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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MalaCards organs/tissues related to Fabry Disease:

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

Animal Models for Fabry Disease or affiliated genes

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MGI Mouse Phenotypes related to Fabry Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.5GBA, GUSB, DBH, GLA, ARSA, PSAP
2MP:00053877.2CHIT1, PSAP, COL4A5, BTK, GLA, ARSA
3MP:00053766.7ARSA, GBA, GUSB, DBH, NAGA, PSAP

Publications for Fabry Disease

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Articles related to Fabry Disease:

(show top 50)    (show all 639)
idTitleAuthorsYear
1
Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports. (25327101)
2014
2
A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. (25295576)
2014
3
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses. (24239767)
2013
4
Fabry disease. (23931807)
2013
5
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. (24020479)
2013
6
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. (23385635)
2013
7
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
8
Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. (23608164)
2013
9
Characterization of Pain in Fabry Disease. (24121530)
2013
10
Cardiac device-related endocarditis in the patient with end-stage renal failure in the course of Fabry disease. (23813154)
2013
11
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. (23023720)
2013
12
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease. (22905681)
2013
13
Ta88 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. (23922004)
2013
14
Fabry disease: is there a role for enzyme replacement therapy? (23662843)
2013
15
Enzyme replacement therapy improves cardiac features and severity of Fabry disease. (22704481)
2012
16
Clinical utility gene card for: Fabry disease. (21934708)
2012
17
Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy. (23118528)
2012
18
Fabry disease: raising awareness of the disease among physicians. (23073862)
2012
19
Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. (21744250)
2012
20
Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients. (22796398)
2012
21
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report. (22682330)
2012
22
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. (22406371)
2012
23
Prominent papillary muscles in Fabry disease: a diagnostic marker? (21084151)
2011
24
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. (20851180)
2011
25
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy. (21857019)
2011
26
Fabry disease: results of the first UK hemodialysis screening study. (21612753)
2011
27
Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease. (21700093)
2011
28
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
29
The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. (20965976)
2010
30
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. (20108436)
2010
31
Ocular manifestations of Fabry disease within in a single kindred. (20615758)
2010
32
Fabry disease. (19318041)
2009
33
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. (19852524)
2009
34
Anderson-Fabry disease: developments in diagnosis and treatment. (20040315)
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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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:

6 (show all 58)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000169.2(GLA): c.1066C> T (p.Arg356Trp)single nucleotide variantPathogenicrs104894827GRCh37Chr 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.724A> T (p.Ile242Phe)single nucleotide variantLikely pathogenicrs397515873GRCh37Chr X, 100653850: 100653850
58NM_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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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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Pathways related to Fabry Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GLA, NAGA
29.5FUCA1, GBA
3
Show member pathways
8.5GBA, PSAP, GLA, ARSA
47.4ARSA, GLA, PSAP, NAGA, GUSB, FUCA1
5
Show member pathways
7.0GBA, GUSB, DBH, PRKAG2, PSAP, GLA

Compounds for genes affiliated with Fabry Disease

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Compounds related to Fabry Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1chitin44 2411.2CHIT1, GLA
2bifidobacterium4410.2GLA, GUSB
3cerebroside4410.2ARSA, GLA
4miglustat44 1111.0CHIT1, GBA
5D-Glucose249.9GLA, GBA
6hippuric acid44 2410.9GLA, DBH
7glutaraldehyde449.8GLA, FUCA1
8Galactosylceramide (d18:1/22:0)249.7GLA, ARSA, GBA
9Galactosylceramide (d18:1/20:0)249.7GBA, GLA, ARSA
10Galactosylceramide (d18:1/24:1(15Z))249.7ARSA, GLA, GBA
11Galactosylceramide (d18:1/26:1(17Z))249.7ARSA, GLA, GBA
12Galactosylceramide (d18:1/18:1(9Z))249.7GBA, ARSA, GLA
13Galactosylceramide (d18:1/16:0)249.7ARSA, GLA, GBA
14Galactosylceramide (d18:1/18:0)249.7ARSA, GLA, GBA
151-deoxynojirimycin61 44 1111.7GLA, FUCA1, GBA
16percoll449.6FUCA1, GBA
17galactosylceramide449.6PSAP, ARSA
18sulfatide449.5ARSA, PSAP
19conduritol b epoxide449.5PSAP, GBA
204-methylumbelliferyl-beta-d-glucoside449.5PSAP, GBA
21n-acetylglucosamine449.5FUCA1, NAGA, CHIT1, ARSA
22methanol44 2410.5DBH, GUSB
23dops449.4PSAP, DBH
24sucrose44 24 1111.3FUCA1, DBH, GLA
255-hydroxytryptamine449.3GUSB, DBH, BTK
26methionine449.3ARSA, GLA, FUCA1
27lactosylceramide449.3GLA, PSAP, GBA
28sulfate44 2410.2ARSA, PSAP, GUSB
29valine449.2ARSA, GLA, COL4A5, PSAP
30polysaccharide449.2GBA, FUCA1, CHIT1, ARSA
313-O-Sulfogalactosylceramide (d18:1/24:0)249.1ARSA, PSAP, GBA
32carbon449.1FUCA1, NAGA, PSAP, GLA
33ganglioside449.0FUCA1, PSAP, GLA, ARSA
34mannose449.0GBA, FUCA1, CHIT1, GLA, ARSA
35glycolipid449.0GBA, NAGA, PSAP, GLA
36glucosylceramide44 2410.0GLA, PSAP, CHIT1, GBA
37glycosphingolipid449.0GBA, PSAP, GLA, ARSA
38ceramide448.9GBA, PSAP, GLA, ARSA
39lactate448.8FUCA1, GUSB, DBH, GLA, ARSA
40taurocholate448.8PSAP, GBA
41arginine448.7PSAP, COL4A5, BTK, GLA
42oligonucleotide448.4DBH, PSAP, BTK, ARSA
43mannose 6-phosphate44 249.2ARSA, GBA, FUCA1, GUSB, PSAP, GLA
44hydrogen44 248.9GBA, DBH, PSAP, BTK, GLA, ARSA
45glucose447.9GBA, FUCA1, DBH, NAGA, PSAP, GLA
46cysteine447.9GBA, DBH, PSAP, COL4A5, BTK, ARSA
47Water247.7GBA, FUCA1, GUSB, DBH, NAGA, CHIT1
48calcium44 50 24 1110.7GBA, GUSB, DBH, PSAP, BTK, GLA
49serine447.6GBA, DBH, PSAP, COL4A5, BTK, GLA
50lipid447.6GBA, DBH, CHIT1, PSAP, BTK, GLA

GO Terms for genes affiliated with Fabry Disease

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.8NAGA, CHIT1, GLA, ARSA, FUCA1
2lysosomal lumenGO:0432027.9ARSA, GLA, PSAP, GUSB, GBA

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:04647710.0GLA, NAGA
2oligosaccharide metabolic processGO:0093119.8GLA, NAGA
3glycoside catabolic processGO:0161399.6GLA, NAGA, FUCA1
4response to pHGO:0092689.6GBA, ARSA
5response to estrogenGO:0436279.6ARSA, GBA
6glycosaminoglycan catabolic processGO:0060279.3GUSB, FUCA1
7glycosphingolipid metabolic processGO:0066878.7ARSA, GLA, PSAP, GBA
8sphingolipid metabolic processGO:0066658.7GBA, PSAP, GLA, ARSA
9small molecule metabolic processGO:0442817.1GBA, GUSB, DBH, PRKAG2, PSAP, GLA

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

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:0045579.9GLA, NAGA

Products for genes affiliated with Fabry Disease

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet