MCID: FBR012
MIFTS: 68

Fabry Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Fabry Disease

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fabry Disease:

Name: Fabry Disease 50 11 69 22 46 23 24 47 13 52 68 12 48 37 66
Alpha-Galactosidase a Deficiency 11 22 46 23 24 52
Angiokeratoma Corporis Diffusum 11 46 24 52 25
Anderson-Fabry Disease 22 46 23 24 52
Fabry's Disease 11 24 25
Gla Deficiency 46 23 24
Ceramide Trihexosidase Deficiency 46 24
Fabry Disease, Cardiac Variant 50 25
 
Hereditary Dystopic Lipidosis 46 24
Fd 52 68
Alpha Galactosidase Deficiency 11
Deficiency of Melibiase 11
Angiokeratoma, Diffuse 46
Diffuse Angiokeratoma 52
Angiokeratoma Diffuse 24
Galactosidase, Alpha 12

Characteristics:

Orphanet epidemiological data:

52
fabry disease:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; Age of death: adult

HPO:

62
fabry disease:
Inheritance: x-linked recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 301500
Disease Ontology11 DOID:14499
ICD1028 E75.21
MeSH37 D000795
Orphanet52 ORPHA324
UMLS via Orphanet67 C0002986
ICD10 via Orphanet29 E75.2
MESH via Orphanet38 D000795

Summaries for Fabry Disease

About this section
OMIM:50 Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity... (301500) more...

MalaCards based summary: Fabry Disease, also known as alpha-galactosidase a deficiency, is related to angiokeratoma corporis diffusum with arteriovenous fistulas and classic fabry disease, and has symptoms including renal insufficiency, nephrotic syndrome 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 Lysosome. The drug agalsidase beta has been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and heart, and related mouse phenotypes are renal/urinary system and immune system.

NIH Rare Diseases:46 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or gl-3. fabry disease 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: 3/28/2016

UniProtKB/Swiss-Prot:68 Fabry disease: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.

NINDS:47 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:24 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:69 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... more...

GeneReviews summary for NBK1292

Related Diseases for Fabry Disease

About this section

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1angiokeratoma corporis diffusum with arteriovenous fistulas12.4
2classic fabry disease12.1
3atypical and late onset variants of fabry disease11.9
4dysautonomia, familial11.5
5fibrous dysplasia/mccune-albright syndrome10.9
6diffuse lymphatic malformation10.9
7malignant gastric germ cell tumor10.5GLA, NAGA
8infertility due to extratesticular cause10.5CST3, NOS3
9cardiomyopathy10.3
10transient refractive change10.3NOS3, TNNI3
11angiokeratoma10.3
12gonococcal endophthalmia10.3NOS3, TNNI3
13generalized dystonia10.2CST3, NOS3
14hypertrophic cardiomyopathy10.2
15endotheliitis10.2
16sphingolipidosis10.2
17spinal muscular atrophy with progressive myoclonic epilepsy10.2NAGA, PSAP
18atrial standstill, digenic10.2LAMP2, TNNI3
19neuropathy10.1
20fibrous dysplasia10.1
21dyspepsia10.1
22spastic paraplegia 34, x-linked10.1LAMP2, PRKAG2
23dysautonomia10.0
24cerebritis10.0
25sleep disorder9.9
26atherosclerosis9.9
27left ventricular noncompaction9.9
28kidney disease9.9
29meningitis9.9
30macular corneal dystrophy9.9
31corneal dystrophy9.9
32baraitser-winter syndrome 29.9LAMP2, PRKAG2
33fucosidosis9.8FUCA1, NAGA
34end stage renal failure9.8
35keratopathy9.8
36chronic meningitis9.8
37hypohidrosis9.8
38retinitis9.8
39myopathy9.8
40cerebrovascular disease9.8
41neuronitis9.8
42amyloidosis9.8
43priapism9.8
44supratentorial primitive neuroectodermal tumor9.8FUCA1, GLA, NAGA
45hiv-19.8
46retinoschisis9.8
47neuromyelitis optica9.8
48retinitis pigmentosa9.8
49sarcoma9.8
50optic neuritis9.8

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



Diseases related to fabry disease

Symptoms for Fabry Disease

About this section

Symptoms by clinical synopsis from OMIM:

301500

Clinical features from OMIM:

301500

Symptoms:

 52 (show all 65)
  • renal insufficiency
  • abnormality of the renal tubule
  • proteinuria
  • nephrotic syndrome
  • nephropathy
  • thick lower lip vermilion
  • coarse facial features
  • hearing impairment
  • sensorineural hearing impairment
  • cataract
  • conjunctival telangiectasia
  • optic atrophy
  • behavioral abnormality
  • depression
  • anxiety
  • hematuria
  • hypertension
  • delayed puberty
  • diabetes insipidus
  • hyperkeratosis
  • hypohidrosis
  • lymphedema
  • angiokeratoma
  • corneal dystrophy
  • seizures
  • arthritis
  • subcutaneous nodule
  • congestive heart failure
  • abnormality of the myocardium
  • hypertrophic cardiomyopathy
  • abnormality of the aortic valve
  • mitral regurgitation
  • atrioventricular block
  • angina pectoris
  • left ventricular hypertrophy
  • anemia
  • fever
  • nausea and vomiting
  • malabsorption
  • abdominal pain
  • anorexia
  • respiratory insufficiency
  • dyspnea
  • emphysema
  • vertigo
  • transient ischemic attack
  • developmental regression
  • achalasia
  • abnormality of the femur
  • arthralgia
  • hyperlipidemia
  • abnormality of lipid metabolism
  • myalgia
  • abnormality of the endocardium
  • short stature
  • reduced bone mineral density
  • chronic obstructive pulmonary disease
  • corneal opacity
  • arrhythmia
  • bundle branch block
  • fatigue
  • cognitive impairment
  • mucosal telangiectasiae
  • teleangiectasia of the skin
  • glomerulopathy

HPO human phenotypes related to Fabry Disease:

(show all 82)
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 telangiectasia 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 congestive heart failure HP:0001635
66 myocardial infarction HP:0001658
67 angina pectoris HP:0001681
68 left ventricular hypertrophy HP:0001712
69 anemia HP:0001903
70 vomiting HP:0002013
71 diarrhea HP:0002014
72 nausea HP:0002018
73 abdominal pain HP:0002027
74 transient ischemic attack HP:0002326
75 fasciculations HP:0002380
76 dysautonomia HP:0002459
77 muscle cramps HP:0003394
78 paresthesia HP:0003401
79 left ventricular septal hypertrophy HP:0005144
80 obstructive lung disease HP:0006536
81 arrhythmia HP:0011675
82 tenesmus HP:0012702

UMLS symptoms related to Fabry Disease:


abdominal pain, muscular fasciculation, hyperesthesia, muscle cramp, nausea, seizures, vomiting, burning sensation, rectal tenesmus, application site anesthesia, injection site anesthesia, paresthesia of mucous membrane, burning sensation of skin, dysesthesia, burning sensation of mucous membrane, injection site paresthesia, oral paresthesia, oral hypoesthesia, paraesthesias and dysaesthesias, application site paraesthesia, intranasal paraesthesia, paraesthesia ear, dysaesthesia pharynx, implant site paraesthesia, infusion site paraesthesia, thermohypoaesthesia, genital paraesthesia, incision site hyperaesthesia, reversed hot-cold sensation, application site hypoaesthesia, vulvovaginal hypoaesthesia, oral hyperaesthesia, pharyngeal paraesthesia

Drugs & Therapeutics for Fabry Disease

About this section

Drugs for Fabry Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
1-DeoxynojirimycinPhase 3, Phase 2, Phase 12319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
2
Nitric OxidePhase 258510102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
3arginineNutraceuticalPhase 2393
4
Enalaprilat11776420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
5
protease inhibitors5157
Synonyms:
 
protease inhibitors
6
angiotensin II113568521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
7
Losartan281114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
8
Enalapril11775847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
9
Nitroprusside5815078-28-111963622
Synonyms:
13755-38-9 (di-hydrochloride salt, diH20)
14402-89-2 (di-hydrochloride salt)
15078-28-1
C07269
CHEMBL74115
CID11953891
Disodium nitroprusside dihydrate
LS-187044
Nipride
 
Nitroferricyanide
Nitropress
Nitroprusside
Pentacyanidonitrosylferrate(2-)
Sodium Nitroprusside
Sodium nitroferricyanide dihydrate
Sodium nitroprusside dihydrate
Sodium nitroprusside extra pure
UNII-169D1260KM
[Fe(CN)5(NO)](2-)
nitroferricyanide
10vitamin d1607
11
Acetylcholine75251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
12
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
13
Hydroquinone36123-31-9785
Synonyms:
1,4-Benzenediol
1,4-Dihydroxy-benzeen
1,4-Dihydroxy-benzol
1,4-Dihydroxybenzen
1,4-Diidrobenzene
1,4-benzenediol
1,4-dihydroxybenzene
4-Hydroxyphenol
Benzene-1,4-diol
Benzohydroquinone
Benzoquinol
Dihydroquinone
Dihydroxybenzene
Eldoquin
Hydrochinon
Hydrochinone
Hydroquinol
Hydroquinole
Hydroquinone
Hydroquinone for synthesis
 
Hydroquinone gr
Hydroquinoue
Idrochinone
Melanex
Phiaquin
Quinol
Solaquin forte
a-Hydroquinone
alpha-Hydroquinone
b-Quinol
benzene-1,4-diol
beta-Quinol
p-Benzenediol
p-Dihydroxybenzene
p-Dioxobenzene
p-Dioxybenzene
p-Hydroquinone
p-Hydroxybenzene
p-Hydroxyphenol
p-hydroxyphenol
quinol
14
Tropicamide221508-75-45593
Synonyms:
(+-)-N-Ethyl-2-phenyl-N-(4-pyridylmethyl)hydracrylamide
1508-75-4
5-22-09-00359 (Beilstein Handbook Reference)
AB00052120
AC-816
AC1L1KOZ
AC1Q5IFA
AR-1K6980
Akorn Brand of Tropicamide
Alcon Brand of Tropicamide
BPBio1_000303
BRD-A79672927-001-05-8
BRN 0285563
BSPBio_000275
BSPBio_002289
Bio-0810
Bistropamide
Bournonville Brand of Tropicamide
CHEMBL1200604
CID5593
CPD000058523
Cahill May Roberts Brand of Tropicamide
Chauvin Brand of Tropicamide
Colircusi Tropicamida
D00397
D014331
DB00809
DivK1c_000448
EINECS 216-140-2
EU-0101223
Epitromina
HMS1568N17
HMS1921I09
HMS2089M05
HMS2092A18
HMS501G10
I-Picamide
I06-0811
IDI1_000448
KBio1_000448
KBio2_001064
KBio2_003632
KBio2_006200
KBio3_001509
KBioGR_000873
KBioSS_001064
L001262
LS-28545
Lopac0_001223
MLS001306442
MLS002154240
Medical Ophthalmics Brand of Tropicamide
Minims tropicamide
MolPort-000-159-321
Mydral
Mydriacyl
Mydriacyl (TN)
Mydriafair
Mydriaticum
Mydrum
N-Ethyl-2-phenyl-N-(4-pyridylmethyl)hydracrylamide
N-Ethyl-2-phenyl-N-4-[-pyridyl-methyl]hydracrylamide
N-Ethyl-N-(4-pyridylmethyl)tropamid
N-Ethyl-N-(4-pyridylmethyl)tropamide
N-Ethyl-alpha-(hydroxymethyl)-N-(4-pyridinylmethyl)benzeneacetamide
N-ethyl-3-hydroxy-2-phenyl-N-(pyridin-4-ylmethyl)propanamide
NCGC00016065-03
NCGC00016065-08
 
NCGC00024866-02
NCGC00024866-03
NCGC00024866-04
NCGC00024866-05
NCGC00024866-06
NINDS_000448
Novartis Brand of Tropicamide
Ocu Tropic
Ocu-Tropic
OcuTropic
Ocumed Brand of Tropicamide
Ocusoft Brand of Tropicamide
Opticyl
Paremyd
Pharmafair Brand of Tropicamide
Prestwick0_000228
Prestwick1_000228
Prestwick2_000228
Prestwick3_000228
Prestwick_487
Rivex Brand of Tropicamide
Ro 1-7683
SAM002564235
SMP1_000304
SMR000058523
SPBio_000872
SPBio_002196
SPECTRUM1500599
STK934612
Spectro-Cyl
Spectrum2_000936
Spectrum3_000655
Spectrum4_000377
Spectrum5_001585
Spectrum_000584
Stulln Brand 1 of Tropicamide
Stulln Brand 2 of Tropicamide
T 9778
T9778_SIGMA
TL8001101
Triaminic DM
Tropicacyl
Tropicamid
Tropicamida
Tropicamida [INN-Spanish]
Tropicamide
Tropicamide (JP15/USP/INN)
Tropicamide Alcon Brand
Tropicamide Chauvin Brand
Tropicamide Faure
Tropicamide Minims
Tropicamide Monofree
Tropicamide Monohydrochloride, (R)-Isomer
Tropicamide Monohydrochloride, (S)-Isomer
Tropicamide Novartis Brand
Tropicamide Ocumed Brand
Tropicamide Pharmafair Brand
Tropicamide Rivex Brand
Tropicamide [USAN:INN:BANJAN]
Tropicamide, (+-)-Isomer
Tropicamide, (R)-Isomer
Tropicamide, (S)-Isomer
Tropicamidum
Tropicamidum [INN-Latin]
Tropikamid
Tropimil
UNII-N0A3Z5XTC6
Visumidriatic
n-ethyl-n-(g-picolyl)tropamide
tropicamide
15
ErgocalciferolNutraceutical121150-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
16
Vitamin ANutraceutical45011103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
17retinolNutraceutical450

Interventional clinical trials:

(show top 50)    (show all 112)
idNameStatusNCT IDPhase
1Replagal Enzyme Replacement Therapy for Adults With Fabry DiseaseCompletedNCT00097890Phase 4
2A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry DiseaseCompletedNCT00140621Phase 4
3A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00081497Phase 4
4A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry DiseaseCompletedNCT00074984Phase 4
5A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.CompletedNCT00233870Phase 4
6Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
7A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaCompletedNCT01650779Phase 4
8Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) StudyRecruitingNCT00455104Phase 4
9Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseRecruitingNCT00487630Phase 4
10A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their InfantsRecruitingNCT00230607Phase 4
11A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.WithdrawnNCT00312767Phase 4
12Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry DiseaseCompletedNCT01218659Phase 3
13A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00074971Phase 3
14Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry DiseaseCompletedNCT00864851Phase 3
15Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry DiseaseCompletedNCT01124643Phase 3
16Open-Label Phase 3 Long-Term Safety Study of MigalastatCompletedNCT01458119Phase 3
17Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry DiseaseCompletedNCT00925301Phase 3
18A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe SymptomsCompletedNCT00701415Phase 3
19Physician Initiated Request for Migalastat in Individual Patients With Fabry DiseaseRecruitingNCT01476163Phase 3
20A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry DiseaseRecruitingNCT01298141Phase 3
21Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal FunctionRecruitingNCT02795676Phase 3
22Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry DiseaseActive, not recruitingNCT02194985Phase 3
23Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry DiseaseWithdrawnNCT02921620Phase 3
24Alpha-Galactosidase A Replacement Therapy for Fabry DiseaseCompletedNCT00048906Phase 2
25An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry DiseaseCompletedNCT00071877Phase 2
26Dosing Study of Replagal in Patients With Fabry DiseaseCompletedNCT00068107Phase 2
27Alternative Dosing and Regimen of Replagal to Treat Fabry DiseaseCompletedNCT00075244Phase 2
28Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 StudyCompletedNCT00526071Phase 2
29Replagal Enzyme Replacement Therapy for Children With Fabry DiseaseCompletedNCT00084084Phase 2
30A Study of Fabrazyme in Pediatric Patients With Fabry DiseaseCompletedNCT00074958Phase 2
31Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry DiseaseCompletedNCT01196871Phase 2
32A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00196716Phase 2
33A Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00214500Phase 2
34Safety Study of Replagal® Therapy in Children With Fabry DiseaseCompletedNCT01363492Phase 2
35A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00283933Phase 2
36A 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry DiseaseCompletedNCT00304512Phase 2
37A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00283959Phase 2
38Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry DiseaseCompletedNCT02228460Phase 2
39Dose-ranging Study of PRX-102 in Adult Fabry Disease PatientsCompletedNCT01678898Phase 1, Phase 2
40This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.CompletedNCT01304277Phase 2
41Effectiveness of Arginine as a Treatment for Sickle Cell AnemiaCompletedNCT00513617Phase 2
42Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry DiseaseEnrolling by invitationNCT02489344Phase 2
43An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry PatientsEnrolling by invitationNCT01769001Phase 1, Phase 2
44Extension Study of PRX-102 for 24 MonthsEnrolling by invitationNCT01981720Phase 1, Phase 2
45Severe Renal Disease Study in Fabry Patients Treated With FabrazymeTerminatedNCT00837824Phase 2
46Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry DiseaseWithdrawnNCT01588314Phase 2
47An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry DiseaseCompletedNCT00357786Phase 1
48Evaluate the Safety and Exploratory Efficacy of GC1119CompletedNCT01653444Phase 1
49A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy VolunteersCompletedNCT02082327Phase 1
50A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)CompletedNCT01730482Phase 1

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS66/NDF-RT44:


Cochrane evidence based reviews: fabry disease

Genetic Tests for Fabry Disease

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Genetic tests related to Fabry Disease:

id Genetic test Affiliating Genes
1 Fabry Disease25 23 GLA
2 Fabry Disease, Cardiac Variant25
3 Angiokeratoma Corporis Diffusum25

Anatomical Context for Fabry Disease

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MalaCards organs/tissues related to Fabry Disease:

34
Skin, Kidney, Heart, Eye, Endothelial, Testes, Bone

Animal Models for Fabry Disease or affiliated genes

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MGI Mouse Phenotypes related to Fabry Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1DDC, GLA, KCNN4, NOS3, PSAP, UMOD
2MP:00053877.9A4GALT, DDC, GLA, KCNN4, LAMP2, NOS3
3MP:00053697.9CST3, GLA, KCNN4, LAMP2, NOS3, PSAP
4MP:00053867.1A4GALT, DDC, GLA, LAMP2, NOS3, PSAP
5MP:00053857.1CST3, DDC, GLA, KCNN4, LAMP2, NOS3
6MP:00053766.7A4GALT, CST3, DDC, GLA, KCNN4, LAMP2

Publications for Fabry Disease

About this section

Articles related to Fabry Disease:

(show top 50)    (show all 733)
idTitleAuthorsYear
1
Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. (26305465)
2015
2
Clinical prodromes of neurodegeneration in Anderson-Fabry disease. (25762709)
2015
3
Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease. (26454753)
2015
4
Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports. (25327101)
2014
5
Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. (24679964)
2014
6
A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. (25295576)
2014
7
Molecular damage in Fabry disease: Characterization and prediction of alpha-galactosidase A pathological mutations. (25382311)
2014
8
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses. (24239767)
2013
9
Fabry disease. (23931807)
2013
10
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. (24020479)
2013
11
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. (23385635)
2013
12
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
13
Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. (23608164)
2013
14
Characterization of Pain in Fabry Disease. (24121530)
2013
15
Cardiac device-related endocarditis in the patient with end-stage renal failure in the course of Fabry disease. (23813154)
2013
16
Ta88 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. (23922004)
2013
17
Thoracic aortic dilation/aneurysm in Fabry disease. (24262735)
2013
18
Enzyme replacement therapy improves cardiac features and severity of Fabry disease. (22704481)
2012
19
Clinical utility gene card for: Fabry disease. (21934708)
2012
20
Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy. (23118528)
2012
21
Fabry disease: raising awareness of the disease among physicians. (23073862)
2012
22
Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. (21744250)
2012
23
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. (22406371)
2012
24
Fabry disease cardiomyopathy: from genes to clinical manifestations. (22280422)
2012
25
Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). (21623772)
2012
26
Delayed diagnosis of Fabry disease presenting as myocardial ischaemia. (23178434)
2012
27
Prominent papillary muscles in Fabry disease: a diagnostic marker? (21084151)
2011
28
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy. (21857019)
2011
29
Fabry disease: results of the first UK hemodialysis screening study. (21612753)
2011
30
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
31
Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy. (21720814)
2011
32
The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. (20965976)
2010
33
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. (20108436)
2010
34
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). (19833663)
2010
35
Frequency of Fabry disease in male and female haemodialysis patients in Spain. (20122163)
2010
36
Fabry disease. (19318041)
2009
37
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. (19852524)
2009
38
Anderson-Fabry disease: developments in diagnosis and treatment. (20040315)
2009
39
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). (19621417)
2009
40
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. (18003767)
2008
41
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke. (17509753)
2007
42
Gastrointestinal manifestations of Fabry disease (21290669)
2006
43
Fabry disease. (16511611)
2006
44
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. (16972173)
2006
45
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (15712228)
2005
46
Measurement of renal function in patients with Fabry disease. (15895707)
2005
47
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. (12938095)
2003
48
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (10666480)
1999
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:

68 (show all 157)
id Symbol AA change Variation ID SNP ID
1GLAp.Leu32ProVAR_000431
2GLAp.Asn34SerVAR_000432rs28935192
3GLAp.Gly35ArgVAR_000433
4GLAp.Pro40SerVAR_000434rs104894831
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_000447rs104894834
17GLAp.Arg112HisVAR_000448rs372966991
18GLAp.Gly128GluVAR_000450
19GLAp.Leu131ProVAR_000451
20GLAp.Cys142TyrVAR_000452
21GLAp.Ala143ProVAR_000453rs104894845
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_000463rs397515870
32GLAp.Asn215SerVAR_000464rs28935197
33GLAp.Ile219AsnVAR_000465
34GLAp.Asn224AspVAR_000466
35GLAp.Arg227GlnVAR_000467rs28935198
36GLAp.Asp231AsnVAR_000468
37GLAp.Asp244AsnVAR_000469rs727503948
38GLAp.Asp264ValVAR_000471rs28935486
39GLAp.Asp266ValVAR_000472rs28935487
40GLAp.Val269AlaVAR_000473rs28935488
41GLAp.Asn272LysVAR_000474
42GLAp.Gln279GluVAR_000475rs28935485
43GLAp.Met284ThrVAR_000476
44GLAp.Ala288AspVAR_000477
45GLAp.Met296ValVAR_000478rs104894830
46GLAp.Ser297PheVAR_000479rs28935489
47GLAp.Asn298LysVAR_000480
48GLAp.Arg301GlnVAR_000481rs104894828
49GLAp.Asp313TyrVAR_000482rs28935490
50GLAp.Val316GluVAR_000483
51GLAp.Gln327LysVAR_000484rs28935491
52GLAp.Gly328ArgVAR_000485rs104894832
53GLAp.Gly328AlaVAR_000486rs28935492
54GLAp.Arg342GlnVAR_000487rs28935493
55GLAp.Arg356TrpVAR_000488rs104894827
56GLAp.Glu358LysVAR_000489
57GLAp.Gly361ArgVAR_000491rs28935494
58GLAp.Ala20ProVAR_012362rs104894847
59GLAp.Ala31ValVAR_012363
60GLAp.Pro40LeuVAR_012364
61GLAp.Met42ValVAR_012365
62GLAp.His46ArgVAR_012367
63GLAp.His46TyrVAR_012368
64GLAp.Trp47GlyVAR_012369
65GLAp.Arg49ProVAR_012370rs398123205
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_012380rs113173389
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.Ser148AsnVAR_012390
85GLAp.Ser148ArgVAR_012391
86GLAp.Trp162CysVAR_012392
87GLAp.Gly163ValVAR_012393
88GLAp.Asp170ValVAR_012394
89GLAp.Cys172ArgVAR_012395
90GLAp.Gly183AspVAR_012396
91GLAp.Met187ValVAR_012397
92GLAp.Cys202TyrVAR_012398
93GLAp.Tyr216AspVAR_012400
94GLAp.Cys223GlyVAR_012401
95GLAp.Asn224SerVAR_012402
96GLAp.Trp226ArgVAR_012403
97GLAp.Ala230ThrVAR_012404
98GLAp.Ser235CysVAR_012405
99GLAp.Trp236CysVAR_012406
100GLAp.Trp236LeuVAR_012407
101GLAp.Ile242AsnVAR_012408
102GLAp.Asp244HisVAR_012409
103GLAp.Gly258ArgVAR_012410
104GLAp.Pro259LeuVAR_012411
105GLAp.Pro259ArgVAR_012412
106GLAp.Gly260AlaVAR_012413
107GLAp.Gly261AspVAR_012414
108GLAp.Asn263SerVAR_012415
109GLAp.Pro265ArgVAR_012416
110GLAp.Asp266AsnVAR_012418
111GLAp.Met267IleVAR_012419rs730880451
112GLAp.Gln279HisVAR_012420
113GLAp.Gln280HisVAR_012421
114GLAp.Trp287CysVAR_012422
115GLAp.Trp287GlyVAR_012423
116GLAp.Ile289PheVAR_012424
117GLAp.Met296IleVAR_012425rs104894846
118GLAp.Asn298HisVAR_012426
119GLAp.Asn298SerVAR_012427
120GLAp.Asn320LysVAR_012430
121GLAp.Asn320TyrVAR_012431
122GLAp.Gln321GluVAR_012432rs730880439
123GLAp.Trp340ArgVAR_012433
124GLAp.Glu341LysVAR_012434
125GLAp.Arg363HisVAR_012435rs111422676
126GLAp.Gly373AspVAR_012436
127GLAp.Gly373SerVAR_012437rs727504348
128GLAp.Ala377AspVAR_012438
129GLAp.Cys378TyrVAR_012439
130GLAp.Pro409AlaVAR_012440
131GLAp.Pro409ThrVAR_012441
132GLAp.Ser65ThrVAR_032290rs104894848
133GLAp.Asp266HisVAR_032291
134GLAp.Asn272SerVAR_032292rs28935495
135GLAp.Thr410AlaVAR_032293rs104894852
136GLAp.Met42LeuVAR_062551
137GLAp.Gly43ArgVAR_062552
138GLAp.His46ProVAR_062553
139GLAp.Asp93AsnVAR_062554
140GLAp.Arg112SerVAR_062555
141GLAp.Leu120ValVAR_062556
142GLAp.Ala135ValVAR_062557
143GLAp.Gly171AspVAR_062558
144GLAp.Ser201PheVAR_062559
145GLAp.Ile219ThrVAR_062560
146GLAp.Asp234GluVAR_062561
147GLAp.Asp264TyrVAR_062562
148GLAp.Ser276GlyVAR_062563
149GLAp.Ala285ProVAR_062564
150GLAp.Leu300PheVAR_062565
151GLAp.Gly328ValVAR_062566
152GLAp.Glu338LysVAR_062567
153GLAp.Arg356GlnVAR_062568
154GLAp.Glu358AlaVAR_062569
155GLAp.Gly360CysVAR_062570rs782598150
156GLAp.Leu414SerVAR_062571
157GLAp.Trp47ArgVAR_076478

Clinvar genetic disease variations for Fabry Disease:

5 (show all 168)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000169.2(GLA): c.1066C> T (p.Arg356Trp)single nucleotide variantLikely pathogenic, Pathogenicrs104894827GRCh37Chr 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
5NM_000169.2(GLA): c.886A> G (p.Met296Val)single nucleotide variantPathogenicrs104894830GRCh37Chr X, 100653471: 100653471
6GLAGLA, EX4DELdeletionPathogenic
7NM_000169.2(GLA): c.118C> T (p.Pro40Ser)single nucleotide variantPathogenicrs104894831GRCh37Chr X, 100662774: 100662774
8GLAGLA, IVS6DS, G-T, +1single nucleotide variantPathogenic
9NM_000169.2(GLA): c.982G> A (p.Gly328Arg)single nucleotide variantPathogenicrs104894832GRCh37Chr X, 100653375: 100653375
10NM_000169.2(GLA): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs104894834GRCh37Chr X, 100658834: 100658834
11NM_000169.2(GLA): c.101A> G (p.Asn34Ser)single nucleotide variantPathogenicrs104894835GRCh37Chr X, 100662791: 100662791
12NM_000169.2(GLA): c.166T> G (p.Cys56Gly)single nucleotide variantPathogenicrs104894836GRCh37Chr X, 100662726: 100662726
13NM_000169.2(GLA): c.436C> T (p.Pro146Ser)single nucleotide variantPathogenicrs104894837GRCh37Chr X, 100656731: 100656731
14NM_000169.2(GLA): c.466G> A (p.Ala156Thr)single nucleotide variantPathogenicrs28935195GRCh37Chr X, 100656701: 100656701
15NM_000169.2(GLA): c.484T> C (p.Trp162Arg)single nucleotide variantPathogenicrs28935196GRCh37Chr X, 100656683: 100656683
16NM_000169.2(GLA): c.606T> G (p.Cys202Trp)single nucleotide variantPathogenicrs104894838GRCh37Chr X, 100655687: 100655687
17NM_000169.2(GLA): c.644A> G (p.Asn215Ser)single nucleotide variantPathogenicrs28935197GRCh37Chr X, 100653930: 100653930
18NM_000169.2(GLA): c.806T> C (p.Val269Ala)single nucleotide variantPathogenicrs28935488GRCh37Chr X, 100653551: 100653551
19NM_000169.2(GLA): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs104894840GRCh37Chr X, 100653894: 100653894
20NM_000169.2(GLA): c.679C> T (p.Arg227Ter)single nucleotide variantPathogenicrs104894841GRCh37Chr X, 100653895: 100653895
21NM_000169.2(GLA): c.791A> T (p.Asp264Val)single nucleotide variantPathogenicrs28935486GRCh37Chr X, 100653783: 100653783
22NM_000169.2(GLA): c.797A> T (p.Asp266Val)single nucleotide variantPathogenicrs28935487GRCh37Chr X, 100653777: 100653777
23NM_000169.2(GLA): c.861G> A (p.Trp287Ter)single nucleotide variantPathogenicrs104894839GRCh37Chr X, 100653496: 100653496
24NM_000169.2(GLA): c.890C> T (p.Ser297Phe)single nucleotide variantPathogenicrs28935489GRCh37Chr X, 100653467: 100653467
25NM_000169.2(GLA): c.979C> A (p.Gln327Lys)single nucleotide variantPathogenicrs28935491GRCh37Chr X, 100653378: 100653378
26NM_000169.2(GLA): c.983G> C (p.Gly328Ala)single nucleotide variantPathogenicrs28935492GRCh37Chr X, 100653374: 100653374
27NM_000169.2(GLA): c.1020G> A (p.Trp340Ter)single nucleotide variantPathogenicrs104894842GRCh37Chr X, 100653067: 100653067
28NM_000169.2(GLA): c.1025G> A (p.Arg342Gln)single nucleotide variantPathogenicrs28935493GRCh37Chr X, 100653062: 100653062
29NM_000169.2(GLA): c.1024C> T (p.Arg342Ter)single nucleotide variantPathogenicrs104894843GRCh37Chr X, 100653063: 100653063
30NM_000169.2(GLA): c.1081G> C (p.Gly361Arg)single nucleotide variantPathogenicrs28935494GRCh37Chr X, 100653006: 100653006
31NM_000169.2(GLA): c.1192G> T (p.Glu398Ter)single nucleotide variantPathogenicrs104894844GRCh37Chr X, 100652895: 100652895
32NM_000169.2(GLA): c.369+2T> Gsingle nucleotide variantPathogenicrs387906483GRCh37Chr X, 100658797: 100658797
33GLAGLA, IVS5AS, DEL -2,-3deletionPathogenic
34NM_000169.2(GLA): c.427G> A (p.Ala143Thr)single nucleotide variantLikely pathogenic, Pathogenicrs104894845GRCh37Chr X, 100656740: 100656740
35GLAGLA, 13-BP DEL, NT125deletionPathogenic
36GLAGLA, 1-BP DEL, NT716deletionPathogenic
37GLAGLA, 2-BP DEL, NT773deletionPathogenic
38GLAGLA, 5-BP INS, NT954insertionPathogenic
39GLAGLA, 11-BP DEL, NT1016deletionPathogenic
40GLAGLA, 1-BP INS, NT1040insertionPathogenic
41GLAGLA, 53-BP DEL, NT1123deletionPathogenic
42GLAGLA, 2-BP DEL, NT1176deletionPathogenic
43GLAGLA, 3-BP DEL, 1208AAGdeletionPathogenic
44GLAGLA, EX1-2DELdeletionPathogenic
45GLAGLA, EX3-4DELdeletionPathogenic
46GLAGLA, EX3-7DELdeletionPathogenic
47GLAGLA, EX6-7DELdeletionPathogenic
48GLAGLA, EX2-6DUPduplicationPathogenic
49GLAGLA, 3-BP DEL, PHE383DELdeletionPathogenic
50NM_000169.2(GLA): c.194G> C (p.Ser65Thr)single nucleotide variantPathogenicrs104894848GRCh37Chr X, 100662698: 100662698
51NM_000169.2(GLA): c.1095T> A (p.Tyr365Ter)single nucleotide variantPathogenicrs104894849GRCh37Chr X, 100652992: 100652992
52NM_000169.2(GLA): c.639+919G> Asingle nucleotide variantPathogenicrs199473684GRCh37Chr X, 100654735: 100654735
53NM_000169.2(GLA): c.427G> C (p.Ala143Pro)single nucleotide variantLikely pathogenic, Pathogenicrs104894845GRCh37Chr X, 100656740: 100656740
54NM_000169.2(GLA): c.666C> A (p.Tyr222Ter)single nucleotide variantPathogenicrs104894851GRCh37Chr X, 100653908: 100653908
55NM_000169.2(GLA): c.1228A> G (p.Thr410Ala)single nucleotide variantPathogenicrs104894852GRCh37Chr X, 100652859: 100652859
56GLAGLA, 2-BP DEL, 1277AAdeletionPathogenic
57GLAGLA, 4-BP DEL, 1284ACTTdeletionPathogenic
58NM_000169.2(GLA): c.815A> G (p.Asn272Ser)single nucleotide variantPathogenicrs28935495GRCh37Chr X, 100653542: 100653542
59NM_000169.2(GLA): c.386T> C (p.Leu129Pro)single nucleotide variantLikely pathogenicrs727503072GRCh37Chr X, 100656781: 100656781
60NM_000169.2(GLA): c.1024C> G (p.Arg342Gly)single nucleotide variantLikely pathogenicrs104894843GRCh38Chr X, 101398075: 101398075
61NM_000169.2(GLA): c.1023A> C (p.Glu341Asp)single nucleotide variantPathogenicrs797044497GRCh37Chr X, 100653064: 100653064
62NM_000169.2(GLA): c.802-3_802-2delCAdeletionPathogenicrs797044498GRCh37Chr X, 100653557: 100653558
63NM_000169.2(GLA): c.802-2A> Gsingle nucleotide variantPathogenicrs797044499GRCh37Chr X, 100653557: 100653557
64NM_000169.2(GLA): c.730G> A (p.Asp244Asn)single nucleotide variantPathogenicrs727503948GRCh38Chr X, 101398856: 101398856
65NM_000169.2(GLA): c.658C> T (p.Arg220Ter)single nucleotide variantPathogenicrs727503949GRCh38Chr X, 101398928: 101398928
66NM_000169.2(GLA): c.593T> C (p.Ile198Thr)single nucleotide variantLikely pathogenic, drug responsers727503950GRCh37Chr X, 100655700: 100655700
67NM_000169.2(GLA): c.128delG (p.Gly43Alafs)deletionPathogenicrs797044500GRCh37Chr X, 100662764: 100662764
68NM_000169.2(GLA): c.1117G> A (p.Gly373Ser)single nucleotide variantLikely pathogenicrs727504348GRCh37Chr X, 100652970: 100652970
69NM_000169.2(GLA): c.802-3_804delinsGGCAACTTTindelLikely pathogenicrs727504773GRCh38Chr X, 101398565: 101398570
70NM_000169.2(GLA): c.758T> C (p.Ile253Thr)single nucleotide variantPathogenic, drug responsers727505292GRCh38Chr X, 101398828: 101398828
71NM_000169.2(GLA): c.80delC (p.Pro27Leufs)deletionPathogenicrs730880454GRCh38Chr X, 101407824: 101407824
72NM_000169.2(GLA): c.137A> G (p.His46Arg)single nucleotide variantPathogenicrs398123203GRCh37Chr X, 100662755: 100662755
73NM_000169.2(GLA): c.369+1G> Asingle nucleotide variantPathogenicrs797044669GRCh37Chr X, 100658798: 100658798
74NM_000169.2(GLA): c.361_364delGCTA (p.Ala121Ilefs)deletionPathogenicrs797044670GRCh37Chr X, 100658804: 100658807
75NM_000169.2(GLA): c.335G> A (p.Arg112His)single nucleotide variantPathogenicrs372966991GRCh37Chr X, 100658833: 100658833
76NM_000169.2(GLA): c.469C> T (p.Gln157Ter)single nucleotide variantPathogenicrs797044702GRCh37Chr X, 100656698: 100656698
77NM_000169.2(GLA): c.485G> A (p.Trp162Ter)single nucleotide variantPathogenicrs727504350GRCh37Chr X, 100656682: 100656682
78NM_000169.2(GLA): c.620A> G (p.Tyr207Cys)single nucleotide variantPathogenicrs797044727GRCh37Chr X, 100655673: 100655673
79NM_000169.2(GLA): c.704C> G (p.Ser235Cys)single nucleotide variantLikely pathogenicrs797044746GRCh37Chr X, 100653870: 100653870
80NM_000169.2(GLA): c.661C> T (p.Gln221Ter)single nucleotide variantPathogenicrs797044747GRCh37Chr X, 100653913: 100653913
81NM_000169.2(GLA): c.801+3A> Gsingle nucleotide variantPathogenicrs797044748GRCh37Chr X, 100653770: 100653770
82NM_000169.2(GLA): c.916C> T (p.Gln306Ter)single nucleotide variantPathogenicrs797044768GRCh37Chr X, 100653441: 100653441
83NM_000169.2(GLA): c.982G> C (p.Gly328Arg)single nucleotide variantPathogenicrs104894832GRCh37Chr X, 100653375: 100653375
84NM_000169.2(GLA): c.879_880delTTinsAATC (p.Leu294Ilefs)indelPathogenicrs797044769GRCh37Chr X, 100653477: 100653478
85NM_000169.2(GLA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs797044774GRCh38Chr X, 101398027: 101398027
86NM_000169.2(GLA): c.1157A> C (p.Gln386Pro)single nucleotide variantPathogenicrs797044775GRCh37Chr X, 100652930: 100652930
87NM_000169.2(GLA): c.1087C> T (p.Arg363Cys)single nucleotide variantPathogenicrs797044776GRCh37Chr X, 100653000: 100653000
88NM_000169.2(GLA): c.1235_1236delCT (p.Thr412Serfs)deletionPathogenicrs797044777GRCh37Chr X, 100652851: 100652852
89NM_000169.2(GLA): c.7C> G (p.Leu3Val)single nucleotide variantdrug responsers869312133GRCh37Chr X, 100662885: 100662885
90NM_000169.2(GLA): c.59C> A (p.Ala20Asp)single nucleotide variantPathogenic, drug responsers869312134GRCh38Chr X, 101407845: 101407845
91NM_000169.2(GLA): c.62T> C (p.Leu21Pro)single nucleotide variantPathogenic, drug responsers869312135GRCh37Chr X, 100662830: 100662830
92NM_000169.2(GLA): c.98A> G (p.Asp33Gly)single nucleotide variantPathogenic, drug responsers869312136GRCh38Chr X, 101407806: 101407806
93NM_000169.2(GLA): c.104G> A (p.Gly35Glu)single nucleotide variantPathogenic, drug responsers869312137GRCh37Chr X, 100662788: 100662788
94NM_000169.2(GLA): c.107T> G (p.Leu36Trp)single nucleotide variantPathogenic, drug responsers869312138GRCh38Chr X, 101407797: 101407797
95NM_000169.2(GLA): c.190A> T (p.Ile64Phe)single nucleotide variantPathogenic, drug responsers869312139GRCh38Chr X, 101407714: 101407714
96NM_000169.2(GLA): c.212A> G (p.Glu71Gly)single nucleotide variantdrug responsers781927744GRCh37Chr X, 100658956: 100658956
97NM_000169.2(GLA): c.239G> A (p.Gly80Asp)single nucleotide variantLikely pathogenic, drug responsers781838005GRCh37Chr X, 100658929: 100658929
98NM_000169.2(GLA): c.256T> C (p.Tyr86His)single nucleotide variantPathogenic, drug responsers869312140GRCh37Chr X, 100658912: 100658912
99NM_000169.2(GLA): c.272T> A (p.Ile91Asn)single nucleotide variantPathogenic, drug responsers869312141GRCh38Chr X, 101403908: 101403908
100NM_000169.2(GLA): c.337T> A (p.Phe113Ile)single nucleotide variantLikely pathogenic, drug responsers869312142GRCh38Chr X, 101403843: 101403843
101NM_000169.2(GLA): c.361G> A (p.Ala121Thr)single nucleotide variantdrug responsers782197638GRCh38Chr X, 101403819: 101403819
102NM_000169.2(GLA): c.461T> C (p.Ile154Thr)single nucleotide variantdrug responsers869312143GRCh37Chr X, 100656706: 100656706
103NM_000169.2(GLA): c.490G> T (p.Val164Leu)single nucleotide variantdrug responsers869312144GRCh37Chr X, 100656677: 100656677
104NM_000169.2(GLA): c.540G> T (p.Leu180Phe)single nucleotide variantPathogenic, drug responsers869312145GRCh37Chr X, 100656627: 100656627
105NM_000169.2(GLA): c.561G> A (p.Met187Ile)single nucleotide variantPathogenic, drug responsers869312146GRCh37Chr X, 100655732: 100655732
106NM_000169.2(GLA): c.588A> C (p.Arg196Ser)single nucleotide variantdrug responsers869312147GRCh37Chr X, 100655705: 100655705
107NM_000169.2(GLA): c.610T> C (p.Trp204Arg)single nucleotide variantPathogenic, drug responsers869312148GRCh37Chr X, 100655683: 100655683
108NM_000169.2(GLA): c.638A> G (p.Lys213Arg)single nucleotide variantPathogenic, drug responsers869312149GRCh38Chr X, 101400667: 101400667
109NM_000169.2(GLA): c.641C> T (p.Pro214Leu)single nucleotide variantLikely pathogenic, drug responsers869312150GRCh37Chr X, 100653933: 100653933
110NM_000169.2(GLA): c.657C> G (p.Ile219Met)single nucleotide variantLikely pathogenic, drug responsers869312151GRCh37Chr X, 100653917: 100653917
111NM_000169.2(GLA): c.680G> C (p.Arg227Pro)single nucleotide variantPathogenic, drug responsers104894840GRCh38Chr X, 101398906: 101398906
112NM_000169.2(GLA): c.683A> G (p.Asn228Ser)single nucleotide variantdrug responsers869312152GRCh37Chr X, 100653891: 100653891
113NM_000169.2(GLA): c.724A> G (p.Ile242Val)single nucleotide variantPathogenic, drug responsers397515873GRCh37Chr X, 100653850: 100653850
114NM_000169.2(GLA): c.761T> C (p.Val254Ala)single nucleotide variantLikely pathogenic, drug responsers869312153GRCh38Chr X, 101398825: 101398825
115NM_000169.2(GLA): c.784T> C (p.Trp262Arg)single nucleotide variantPathogenic, drug responsers869312154GRCh37Chr X, 100653790: 100653790
116NM_000169.2(GLA): c.806T> G (p.Val269Gly)single nucleotide variantPathogenic, drug responsers28935488GRCh37Chr X, 100653551: 100653551
117NM_000169.2(GLA): c.865A> G (p.Ile289Val)single nucleotide variantdrug responsers140329381GRCh38Chr X, 101398504: 101398504
118NM_000169.2(GLA): c.926C> T (p.Ala309Val)single nucleotide variantdrug responsers869312155GRCh37Chr X, 100653431: 100653431
119NM_000169.2(GLA): c.937G> A (p.Asp313Asn)single nucleotide variantdrug responsers28935490GRCh38Chr X, 101398432: 101398432
120NM_000169.2(GLA): c.943G> A (p.Asp315Asn)single nucleotide variantdrug responsers869312156GRCh37Chr X, 100653414: 100653414
121NM_000169.2(GLA): c.947T> C (p.Val316Ala)single nucleotide variantdrug responsers869312157GRCh37Chr X, 100653410: 100653410
122NM_000169.2(GLA): c.950T> G (p.Ile317Ser)single nucleotide variantPathogenic, drug responsers869312158GRCh38Chr X, 101398419: 101398419
123NM_000169.2(GLA): c.968C> G (p.Pro323Arg)single nucleotide variantdrug responsers869312159GRCh38Chr X, 101398401: 101398401
124NM_000169.2(GLA): c.980A> G (p.Gln327Arg)single nucleotide variantPathogenic, drug responsers869312160GRCh37Chr X, 100653377: 100653377
125NM_000169.2(GLA): c.980A> T (p.Gln327Leu)single nucleotide variantPathogenic, drug responsers869312160GRCh37Chr X, 100653377: 100653377
126NM_000169.2(GLA): c.989A> G (p.Gln330Arg)single nucleotide variantdrug responsers869312161GRCh37Chr X, 100653368: 100653368
127NM_000169.2(GLA): c.1055C> G (p.Ala352Gly)single nucleotide variantdrug responsers869312162GRCh37Chr X, 100653032: 100653032
128NM_000169.2(GLA): c.1067G> C (p.Arg356Pro)single nucleotide variantPathogenic, drug responsers869312163GRCh37Chr X, 100653020: 100653020
129NM_000169.2(GLA): c.1124G> C (p.Gly375Ala)single nucleotide variantLikely pathogenic, drug responsers869312164GRCh37Chr X, 100652963: 100652963
130NM_000169.2(GLA): c.1176G> T (p.Arg392Ser)single nucleotide variantLikely pathogenic, drug responsers869312165GRCh38Chr X, 101397923: 101397923
131NM_000169.2(GLA): c.1196G> C (p.Trp399Ser)single nucleotide variantLikely pathogenic, drug responsers782449839GRCh37Chr X, 100652891: 100652891
132NM_000169.2(GLA): c.1229C> T (p.Thr410Ile)single nucleotide variantLikely pathogenicrs730880442GRCh38Chr X, 101397870: 101397870
133NM_000169.2(GLA): c.823delC (p.Leu275Serfs)deletionLikely pathogenicrs869025435GRCh38Chr X, 101398546: 101398546
134NM_000169.2(GLA): c.1225C> T (p.Pro409Ser)single nucleotide variantLikely pathogenicrs878853698GRCh37Chr X, 100652862: 100652862
135NM_000169.2(GLA): c.352C> T (p.Arg118Cys)single nucleotide variantLikely pathogenicrs148158093GRCh37Chr X, 100658816: 100658816
136NM_000169.2(GLA): c.613C> A (p.Pro205Thr)single nucleotide variantLikely pathogenic, Pathogenicrs397515870GRCh37Chr X, 100655680: 100655680
137NM_000169.2(GLA): c.724A> T (p.Ile242Phe)single nucleotide variantLikely pathogenicrs397515873GRCh37Chr X, 100653850: 100653850
138NM_000169.2(GLA): c.1019_1020insA (p.Trp340Terfs)insertionPathogenicrs398123197GRCh37Chr X, 100653067: 100653068
139NM_000169.2(GLA): c.1033_1034delTC (p.Ser345Argfs)deletionPathogenicrs398123198GRCh37Chr X, 100653053: 100653054
140NM_000169.2(GLA): c.119C> G (p.Pro40Arg)single nucleotide variantLikely pathogenicrs398123199GRCh37Chr X, 100662773: 100662773
141NM_000169.2(GLA): c.125T> C (p.Met42Thr)single nucleotide variantLikely pathogenicrs398123201GRCh37Chr X, 100662767: 100662767
142NM_000169.2(GLA): c.137A> T (p.His46Leu)single nucleotide variantPathogenicrs398123203GRCh37Chr X, 100662755: 100662755
143NM_000169.2(GLA): c.146G> C (p.Arg49Pro)single nucleotide variantLikely pathogenicrs398123205GRCh37Chr X, 100662746: 100662746
144NM_000169.2(GLA): c.195-1G> Csingle nucleotide variantPathogenicrs398123206GRCh37Chr X, 100658974: 100658974
145NM_000169.2(GLA): c.19G> T (p.Glu7Ter)single nucleotide variantPathogenicrs398123207GRCh37Chr X, 100662873: 100662873
146NM_000169.2(GLA): c.242G> A (p.Trp81Ter)single nucleotide variantPathogenicrs398123208GRCh37Chr X, 100658926: 100658926
147NM_000169.2(GLA): c.281G> A (p.Cys94Tyr)single nucleotide variantPathogenicrs113173389GRCh37Chr X, 100658887: 100658887
148NM_000169.2(GLA): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs104894834GRCh37Chr X, 100658834: 100658834
149NM_000169.2(GLA): c.335G> T (p.Arg112Leu)single nucleotide variantLikely pathogenicrs372966991GRCh37Chr X, 100658833: 100658833
150NM_000169.2(GLA): c.509A> G (p.Asp170Gly)single nucleotide variantPathogenicrs398123210GRCh37Chr X, 100656658: 100656658
151NM_000169.2(GLA): c.548-2A> Gsingle nucleotide variantPathogenicrs398123211GRCh37Chr X, 100655747: 100655747
152NM_000169.2(GLA): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs398123212GRCh37Chr X, 100655745: 100655745
153NM_000169.2(GLA): c.630delC (p.Gln212Lysfs)deletionPathogenicrs398123214GRCh37Chr X, 100655663: 100655663
154NM_000169.2(GLA): c.640-1G> Tsingle nucleotide variantPathogenicrs398123216GRCh37Chr X, 100653935: 100653935
155NM_000169.2(GLA): c.647A> G (p.Tyr216Cys)single nucleotide variantPathogenicrs398123217GRCh37Chr X, 100653927: 100653927
156NM_000169.2(GLA): c.662_663delAG (p.Gln221Leufs)deletionPathogenicrs398123218GRCh37Chr X, 100653911: 100653912
157NM_000169.2(GLA): c.677G> A (p.Trp226Ter)single nucleotide variantPathogenicrs398123219GRCh37Chr X, 100653897: 100653897
158NM_000169.2(GLA): c.734G> A (p.Trp245Ter)single nucleotide variantPathogenicrs398123220GRCh37Chr X, 100653840: 100653840
159NM_000169.2(GLA): c.748C> T (p.Gln250Ter)single nucleotide variantPathogenicrs398123221GRCh37Chr X, 100653826: 100653826
160NM_000169.2(GLA): c.823C> T (p.Leu275Phe)single nucleotide variantLikely pathogenicrs398123222GRCh37Chr X, 100653534: 100653534
161NM_000169.2(GLA): c.865A> T (p.Ile289Phe)single nucleotide variantPathogenicrs140329381GRCh37Chr X, 100653492: 100653492
162NM_000169.2(GLA): c.899T> C (p.Leu300Pro)single nucleotide variantPathogenicrs398123223GRCh37Chr X, 100653458: 100653458
163NM_000169.2(GLA): c.901C> T (p.Arg301Ter)single nucleotide variantPathogenicrs398123224GRCh37Chr X, 100653456: 100653456
164NM_000169.2(GLA): c.959_962delATCA (p.Asn320Argfs)deletionPathogenicrs398123225GRCh37Chr X, 100653395: 100653398
165NM_000169.2(GLA): c.966C> G (p.Asp322Glu)single nucleotide variantPathogenicrs398123226GRCh37Chr X, 100653391: 100653391
166NM_000169.2(GLA): c.973G> A (p.Gly325Ser)single nucleotide variantLikely pathogenicrs398123227GRCh37Chr X, 100653384: 100653384
167NM_000169.2(GLA): c.974G> A (p.Gly325Asp)single nucleotide variantPathogenicrs398123228GRCh37Chr X, 100653383: 100653383
168NM_000169.2(GLA): c.996_999delACAG (p.Gln333Glufs)deletionPathogenicrs398123229GRCh37Chr X, 100653358: 100653361

Expression for genes affiliated with Fabry Disease

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7A4GALT, GLA, NAGA
29.0FUCA1, GLA, LAMP2, NAGA, PSAP

GO Terms for genes affiliated with Fabry Disease

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Cellular components related to Fabry Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1contractile fiberGO:00432929.8CST3, TNNI3
2lysosomal lumenGO:00432029.7FUCA1, GLA, LAMP2, PSAP
3lysosomeGO:00057649.1CST3, GLA, LAMP2, NAGA
4extracellular exosomeGO:00700627.2A4GALT, CST3, DDC, FUCA1, GLA, LAMP2

Biological processes related to Fabry Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycoside catabolic processGO:001613910.2FUCA1, NAGA
2glycosphingolipid metabolic processGO:00066879.9GLA, PSAP

Molecular functions related to Fabry Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:000455710.5GLA, NAGA
2protein domain specific bindingGO:00199049.0DDC, LAMP2, TNNI3

Sources for Fabry Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet