MCID: FBR012
MIFTS: 69

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Fabry Disease:

Name: Fabry Disease 52 11 71 23 48 24 25 49 54 70 12 50 39 13 68
Alpha-Galactosidase a Deficiency 11 23 48 24 25 54
Angiokeratoma Corporis Diffusum 11 48 25 54 27
Anderson-Fabry Disease 23 48 24 25 54
Fabry's Disease 11 25 27
Gla Deficiency 48 24 25
Ceramide Trihexosidase Deficiency 48 25
Fabry Disease, Cardiac Variant 52 27
 
Hereditary Dystopic Lipidosis 48 25
Fd 54 70
Alpha Galactosidase Deficiency 11
Deficiency of Melibiase 11
Angiokeratoma, Diffuse 48
Diffuse Angiokeratoma 54
Angiokeratoma Diffuse 25
Galactosidase, Alpha 12

Characteristics:

Orphanet epidemiological data:

54
fabry disease:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; Age of death: adult

HPO:

64
fabry disease:
Inheritance: x-linked recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 301500
Disease Ontology11 DOID:14499
ICD1030 E75.21
MeSH39 D000795
Orphanet54 ORPHA324
MESH via Orphanet40 D000795
UMLS via Orphanet69 C0002986
ICD10 via Orphanet31 E75.2

Summaries for Fabry Disease

About this section
OMIM:52 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 is 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 immune system and muscle.

UniProtKB/Swiss-Prot:70 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:49 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:25 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.

NIH Rare Diseases:48 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

Wikipedia:71 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... more...

GeneReviews 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 108)
idRelated DiseaseScoreTop Affiliating Genes
1angiokeratoma corporis diffusum with arteriovenous fistulas12.3
2classic fabry disease12.0
3atypical and late onset variants of fabry disease11.8
4dysautonomia, familial11.7
5sphingolipidosis11.1
6diffuse lymphatic malformation10.8
7fibrous dysplasia/mccune-albright syndrome10.8
8malignant gastric germ cell tumor10.4GLA, NAGA
9infertility due to extratesticular cause10.4CST3, NOS3
10spinal muscular atrophy with progressive myoclonic epilepsy10.4NAGA, PSAP
11cardiomyopathy10.2
12angiokeratoma10.2
13transient refractive change10.2NOS3, TNNI3
14hypothalamic disease10.2GLA, PSAP
15gonococcal endophthalmia10.1NOS3, TNNI3
16endotheliitis10.1
17atrial standstill, digenic10.0LAMP2, TNNI3
18neuropathy10.0
19fibrous dysplasia10.0
20dyspepsia10.0
21spastic paraplegia 34, x-linked10.0LAMP2, PRKAG2
22cerebritis9.9
23dysautonomia9.9
24atherosclerosis9.8
25sleep disorder9.8
26left ventricular noncompaction9.8
27meningitis9.8
28fucosidosis9.8FUCA1, NAGA
29supratentorial primitive neuroectodermal tumor9.8FUCA1, GLA, NAGA
30macular corneal dystrophy9.8
31corneal dystrophy9.8
32end stage renal failure9.7
33keratopathy9.7
34chronic meningitis9.7
35hypohidrosis9.7
36retinitis9.7
37myopathy9.7
38neuronitis9.7
39amyloidosis9.7
40priapism9.7
41baraitser-winter syndrome 29.7LAMP2, PRKAG2
42hiv-19.7
43retinoschisis9.7
44neuromyelitis optica9.7
45retinitis pigmentosa9.7
46sarcoma9.7
47optic neuritis9.7
48neuritis9.7
49laryngitis9.7
50mental retardation, autosomal recessive 439.6FUCA1, PSAP

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



Diseases related to fabry disease

Symptoms & Phenotypes for Fabry Disease

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Symptoms by clinical synopsis from OMIM:

301500

Clinical features from OMIM:

301500

Human phenotypes related to Fabry Disease:

 64 54 (show all 84)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0000083
2 nephrotic syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0000100
3 conjunctival telangiectasia64 54 hallmark (90%) Very frequent (99-80%) HP:0000524
4 hematuria64 54 hallmark (90%) Very frequent (99-80%) HP:0000790
5 hyperkeratosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000962
6 hypohidrosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000966
7 corneal dystrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0001131
8 arthritis64 54 hallmark (90%) Very frequent (99-80%) HP:0001369
9 congestive heart failure64 54 hallmark (90%) Very frequent (99-80%) HP:0001635
10 anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001903
11 malabsorption64 54 hallmark (90%) Very frequent (99-80%) HP:0002024
12 abdominal pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002027
13 cerebral ischemia64 hallmark (90%) HP:0002637
14 arthralgia64 54 hallmark (90%) Very frequent (99-80%) HP:0002829
15 myalgia64 54 hallmark (90%) Very frequent (99-80%) HP:0003326
16 paresthesia64 hallmark (90%) HP:0003401
17 opacification of the corneal stroma64 hallmark (90%) HP:0007759
18 telangiectasia of the skin64 hallmark (90%) HP:0100585
19 abnormality of the genital system64 typical (50%) HP:0000078
20 abnormality of the renal tubule64 54 typical (50%) Frequent (79-30%) HP:0000091
21 proteinuria64 54 typical (50%) Frequent (79-30%) HP:0000093
22 nephropathy64 54 typical (50%) Frequent (79-30%) HP:0000112
23 thick lower lip vermilion64 54 typical (50%) Frequent (79-30%) HP:0000179
24 coarse facial features64 54 typical (50%) Frequent (79-30%) HP:0000280
25 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
26 optic atrophy64 54 typical (50%) Frequent (79-30%) HP:0000648
27 behavioral abnormality64 54 typical (50%) Frequent (79-30%) HP:0000708
28 abnormality of the mitral valve64 typical (50%) HP:0001633
29 abnormality of the aortic valve64 54 typical (50%) Frequent (79-30%) HP:0001646
30 nausea and vomiting64 54 typical (50%) Frequent (79-30%) HP:0002017
31 anorexia64 54 typical (50%) Frequent (79-30%) HP:0002039
32 emphysema64 54 typical (50%) Frequent (79-30%) HP:0002097
33 abnormality of lipid metabolism64 54 typical (50%) Frequent (79-30%) HP:0003119
34 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
35 arrhythmia64 54 typical (50%) Occasional (29-5%) HP:0011675
36 cognitive impairment64 54 typical (50%) Frequent (79-30%) HP:0100543
37 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
38 hypertension64 54 occasional (7.5%) Occasional (29-5%) HP:0000822
39 diabetes insipidus64 54 occasional (7.5%) Occasional (29-5%) HP:0000873
40 lymphedema64 54 occasional (7.5%) Occasional (29-5%) HP:0001004
41 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
42 hypertrophic cardiomyopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0001639
43 coronary artery disease64 occasional (7.5%) HP:0001677
44 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
45 vertigo64 54 occasional (7.5%) Occasional (29-5%) HP:0002321
46 developmental regression64 54 occasional (7.5%) Occasional (29-5%) HP:0002376
47 abnormality of the femur64 54 occasional (7.5%) Occasional (29-5%) HP:0002823
48 abnormality of the endocardium64 54 occasional (7.5%) Occasional (29-5%) HP:0004306
49 reduced bone mineral density64 54 occasional (7.5%) Occasional (29-5%) HP:0004349
50 abnormality of temperature regulation64 occasional (7.5%) HP:0004370
51 chronic obstructive pulmonary disease64 54 occasional (7.5%) Occasional (29-5%) HP:0006510
52 glomerulopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0100820
53 delayed puberty64 54 Frequent (79-30%) HP:0000823
54 angiokeratoma64 54 Very frequent (99-80%) HP:0001014
55 abnormality of the hand64 HP:0001155
56 myocardial infarction64 HP:0001658
57 angina pectoris64 54 Occasional (29-5%) HP:0001681
58 left ventricular hypertrophy64 54 Occasional (29-5%) HP:0001712
59 vomiting64 HP:0002013
60 diarrhea64 HP:0002014
61 nausea64 HP:0002018
62 transient ischemic attack64 54 Very frequent (99-80%) HP:0002326
63 fasciculations64 HP:0002380
64 dysautonomia64 HP:0002459
65 muscle cramps64 HP:0003394
66 left ventricular septal hypertrophy64 HP:0005144
67 obstructive lung disease64 HP:0006536
68 tenesmus64 HP:0012702
69 hearing impairment54 Very frequent (99-80%)
70 depression54 Occasional (29-5%)
71 anxiety54 Occasional (29-5%)
72 subcutaneous nodule54 Very frequent (99-80%)
73 abnormality of the myocardium54 Occasional (29-5%)
74 mitral regurgitation54 Frequent (79-30%)
75 atrioventricular block54 Frequent (79-30%)
76 fever54 Occasional (29-5%)
77 dyspnea54 Occasional (29-5%)
78 achalasia54 Occasional (29-5%)
79 hyperlipidemia54 Frequent (79-30%)
80 corneal opacity54 Very frequent (99-80%)
81 bundle branch block54 Frequent (79-30%)
82 fatigue54 Very frequent (99-80%)
83 mucosal telangiectasiae54 Very frequent (99-80%)
84 teleangiectasia of the skin54 Very frequent (99-80%)

UMLS symptoms related to Fabry Disease:


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

MGI Mouse Phenotypes related to Fabry Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.2A4GALT, DDC, GLA, KCNN4, LAMP2, NOS3
2MP:00053698.1CST3, GLA, KCNN4, LAMP2, NOS3, PSAP
3MP:00053678.1DDC, GLA, KCNN4, NOS3, PSAP, UMOD
4MP:00053868.0A4GALT, DDC, GLA, LAMP2, NOS3, PSAP
5MP:00053857.7CST3, DDC, GLA, KCNN4, LAMP2, NOS3
6MP:00053767.5A4GALT, CST3, DDC, GLA, KCNN4, LAMP2

Drugs & Therapeutics for Fabry Disease

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

(show all 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Coal tarapprovedPhase 41918007-45-2
Synonyms:
 
Coal tars
Tar, coal
2
1-DeoxynojirimycinexperimentalPhase 3, Phase 2, Phase 12619130-96-21374
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
3Pharmaceutical SolutionsPhase 3, Phase 17793
4Antiviral AgentsPhase 3, Phase 2, Phase 19732
5Anti-Infective AgentsPhase 3, Phase 2, Phase 121402
6
Nitric OxideapprovedPhase 259910102-43-9145068
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
7Peripheral Nervous System AgentsPhase 222776
8Neurotransmitter AgentsPhase 217734
9arginineNutraceuticalPhase 2408
10
Enalaprilatapproved12076420-72-96917719
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
11
Losartanapproved282114798-26-43961
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
12
Enalaprilapproved, vet_approved12075847-73-35362032, 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
13
Nitroprussideapproved6115078-28-111963622
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
14
Acetylcholineapproved77651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
15
Ethanolapproved204364-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
16
Mentholapproved23532216-51-516666
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
17
Tropicamideapproved221508-75-45593
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
18
Hydroquinoneapproved37123-31-9785
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
19
Ergocalciferolapproved, nutraceutical123250-14-65280793
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
20
Vitamin Aapproved, nutraceutical, vet_approved46811103-57-4, 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
21Annexin A514
22Anti-Arrhythmia Agents2969
23Antihypertensive Agents4095
24Angiotensinogen1161
25
protease inhibitors5320
Synonyms:
 
protease inhibitors
26HIV Protease Inhibitors5319
27Angiotensin Receptor Antagonists1173
28Micronutrients5802
29Angiotensin-Converting Enzyme Inhibitors711
30Ergocalciferols1232
31Bone Density Conservation Agents3266
32Trace Elements5802
33Hormones13979
34vitamin d1653
35
Angiotensin II116268521-88-0, 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
36Vitamins5095
37Angiotensin II Type 1 Receptor Blockers1078
38Retinol palmitate468
39Muscarinic Antagonists1134
40Ophthalmic Solutions1092
41Cholinergic Antagonists1658
42Mydriatics763
43Immunoglobulins6045
44Antibodies6045
45Cholinergic Agents3846
46Autonomic Agents9774
47CalciferolNutraceutical1334
48Vitamin D2Nutraceutical1232
49retinolNutraceutical468

Interventional clinical trials:

(show top 50)    (show all 119)
idNameStatusNCT IDPhase
1Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseUnknown statusNCT00487630Phase 4
2A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry DiseaseCompletedNCT00140621Phase 4
3Replagal Enzyme Replacement Therapy for Adults With Fabry DiseaseCompletedNCT00097890Phase 4
4A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00081497Phase 4
5A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry DiseaseCompletedNCT00074984Phase 4
6A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.CompletedNCT00233870Phase 4
7Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
8A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaCompletedNCT01650779Phase 4
9Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) StudyRecruitingNCT00455104Phase 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
16Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry DiseaseCompletedNCT00925301Phase 3
17Open-Label Phase 3 Long-Term Safety Study of MigalastatCompletedNCT01458119Phase 3
18A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe SymptomsCompletedNCT00701415Phase 3
19A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry DiseaseRecruitingNCT01298141Phase 3
20Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal FunctionRecruitingNCT02795676Phase 3
21Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry DiseaseActive, not recruitingNCT02194985Phase 3
22Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry DiseaseAvailableNCT01476163Phase 3
23Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)Not yet recruitingNCT03018730Phase 3
24Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry DiseaseNot yet recruitingNCT02921620Phase 3
25Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 StudyCompletedNCT00526071Phase 2
26Alpha-Galactosidase A Replacement Therapy for Fabry DiseaseCompletedNCT00048906Phase 2
27Alternative Dosing and Regimen of Replagal to Treat Fabry DiseaseCompletedNCT00075244Phase 2
28Dosing Study of Replagal in Patients With Fabry DiseaseCompletedNCT00068107Phase 2
29An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry DiseaseCompletedNCT00071877Phase 2
30A Study of Fabrazyme in Pediatric Patients With Fabry DiseaseCompletedNCT00074958Phase 2
31A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00196716Phase 2
32A Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00214500Phase 2
33Replagal Enzyme Replacement Therapy for Children With Fabry DiseaseCompletedNCT00084084Phase 2
34Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry DiseaseCompletedNCT01196871Phase 2
35Safety Study of Replagal® Therapy in Children With Fabry DiseaseCompletedNCT01363492Phase 2
36A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00283933Phase 2
37A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00283959Phase 2
38A 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry DiseaseCompletedNCT00304512Phase 2
39Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry DiseaseCompletedNCT02228460Phase 2
40Dose-ranging Study of PRX-102 in Adult Fabry Disease PatientsCompletedNCT01678898Phase 1, Phase 2
41This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.CompletedNCT01304277Phase 2
42Effectiveness of Arginine as a Treatment for Sickle Cell AnemiaCompletedNCT00513617Phase 2
43Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry DiseaseActive, not recruitingNCT02489344Phase 2
44An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry PatientsEnrolling by invitationNCT01769001Phase 1, Phase 2
45Extension Study of PRX-102 for 24 MonthsEnrolling by invitationNCT01981720Phase 1, Phase 2
46Severe Renal Disease Study in Fabry Patients Treated With FabrazymeTerminatedNCT00837824Phase 2
47Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry DiseaseWithdrawnNCT01588314Phase 2
48A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry DiseaseCompletedNCT02930655Phase 1
49An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry DiseaseCompletedNCT00357786Phase 1
50Evaluate the Safety and Exploratory Efficacy of GC1119CompletedNCT01653444Phase 1

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: fabry disease

Genetic Tests for Fabry Disease

About this section

Genetic tests related to Fabry Disease:

id Genetic test Affiliating Genes
1 Fabry Disease27 24 GLA
2 Fabry Disease, Cardiac Variant27
3 Angiokeratoma Corporis Diffusum27

Anatomical Context for Fabry Disease

About this section

MalaCards organs/tissues related to Fabry Disease:

36
Skin, Kidney, Heart, Eye, Endothelial, Bone, Testes

Publications for Fabry Disease

About this section

Articles related to Fabry Disease:

(show top 50)    (show all 753)
idTitleAuthorsYear
1
Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study. (28069318)
2017
2
General Anesthesia and Fabry Disease: A Case Report. (28079663)
2017
3
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. (28082092)
2017
4
Diagnosis and treatment of Fabry disease. (27912900)
2017
5
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. (27998644)
2017
6
Metabolic progression to clinical phenotype in classic Fabry disease. (28049500)
2017
7
GLA-Ring Opportunities and Challenges for Fabry Disease. (27931614)
2016
8
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. (27211852)
2016
9
Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development. (27145802)
2016
10
Multiple parapelvic cysts in Fabry disease. (27061865)
2016
11
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening. (27576502)
2016
12
Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis. (27094629)
2016
13
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. (27156739)
2016
14
Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease. (27585510)
2016
15
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer. (27595546)
2016
16
DWI-MRI and Fabry disease: what can we learn? (27122055)
2016
17
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y. (27059467)
2016
18
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study. (28006774)
2016
19
Fabry Disease: A Disorder of Childhood Onset. (27555236)
2016
20
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. (27584961)
2016
21
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry. (27510433)
2016
22
A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells. (27904112)
2016
23
Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease. (27983599)
2016
24
Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey. (27105876)
2016
25
Is it Fabry disease? (27195818)
2016
26
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. (27992580)
2016
27
Impaired Left Atrial Function in Fabry Disease: A Longitudinal Speckle-Tracking Echocardiography Study. (27939050)
2016
28
Determinants of white matter hyperintensity burden in patients with Fabry disease. (27164662)
2016
29
Social preference weights for treatments in Fabry disease in the UK: a discrete choice experiment. (27590169)
2016
30
One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. (27081853)
2016
31
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. (27142856)
2016
32
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. (27931613)
2016
33
Fabry disease: will markers of early disease enable early treatment and better outcomes? (27205888)
2016
34
Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model. (27531673)
2016
35
The Psychosocial Impact of Fabry Disease on Pediatric Patients. (27617155)
2016
36
Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease. (27576727)
2016
37
Novel I+-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease. (27593536)
2016
38
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. (27043200)
2016
39
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. (27979989)
2016
40
Paradoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy. (27486136)
2016
41
Bleeding Angiokeratomas in Fabry Disease Treated With Argon Plasma Coagulation. (27060427)
2016
42
Angiokeratoma corporis diffusum (Fabry disease) - A case report. (27727956)
2016
43
Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation. (28090261)
2016
44
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics. (27585509)
2016
45
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. (27560961)
2016
46
Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature. (27608175)
2016
47
Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy. (27183453)
2016
48
A Subtle Presentation of Fabry Disease. (27660943)
2016
49
Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency. (27474919)
2016
50
Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy. (27213840)
2016

Variations for Fabry Disease

About this section

UniProtKB/Swiss-Prot genetic disease variations for Fabry Disease:

70 (show all 177)
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_000489rs797044774
57GLAp.Gly361ArgVAR_000491rs28935494
58GLAp.Ala20ProVAR_012362rs104894847
59GLAp.Ala31ValVAR_012363
60GLAp.Pro40LeuVAR_012364
61GLAp.Met42ValVAR_012365
62GLAp.His46ArgVAR_012367rs398123203
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_012405rs797044746
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_062551rs797044613
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_062562rs190347120
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
158GLAp.Ala20AspVAR_077367
159GLAp.Leu21ProVAR_077368
160GLAp.Leu36TrpVAR_077371
161GLAp.Leu45ProVAR_077373
162GLAp.Glu48AspVAR_077374
163GLAp.Ile64PheVAR_077376
164GLAp.Tyr86HisVAR_077379
165GLAp.Ile91AsnVAR_077380
166GLAp.Val164GlyVAR_077384
167GLAp.Leu167GlnVAR_077386
168GLAp.Met187IleVAR_077388
169GLAp.Trp204ArgVAR_077391
170GLAp.Arg227ProVAR_077395
171GLAp.Ser247ProVAR_077399
172GLAp.Trp262ArgVAR_077403
173GLAp.Val269GlyVAR_077404
174GLAp.Gln327LeuVAR_077412
175GLAp.Gln327ArgVAR_077413
176GLAp.Arg342ProVAR_077415
177GLAp.Gly360SerVAR_077418

Clinvar genetic disease variations for Fabry Disease:

5 (show all 187)
id Gene Variation Type Significance SNP ID Assembly Location
1GLANM_000169.2(GLA): c.1066C> T (p.Arg356Trp)SNVLikely pathogenic, Pathogenicrs104894827GRCh37Chr X, 100653021: 100653021
2GLAGLA, EX3DELdeletionPathogenicChr na, -1: -1
3GLANM_000169.2(GLA): c.902G> A (p.Arg301Gln)SNVPathogenicrs104894828GRCh37Chr X, 100653455: 100653455
4GLANM_000169.2(GLA): c.131G> A (p.Trp44Ter)SNVPathogenicrs104894829GRCh37Chr X, 100662761: 100662761
5GLANM_000169.2(GLA): c.886A> G (p.Met296Val)SNVPathogenicrs104894830GRCh37Chr X, 100653471: 100653471
6GLAGLA, EX4DELdeletionPathogenicChr na, -1: -1
7GLANM_000169.2(GLA): c.118C> T (p.Pro40Ser)SNVPathogenicrs104894831GRCh37Chr X, 100662774: 100662774
8GLAGLA, IVS6DS, G-T, +1SNVPathogenicChr na, -1: -1
9GLANM_000169.2(GLA): c.982G> A (p.Gly328Arg)SNVPathogenicrs104894832GRCh37Chr X, 100653375: 100653375
10GLANM_000169.2(GLA): c.101A> G (p.Asn34Ser)SNVPathogenicrs104894835GRCh37Chr X, 100662791: 100662791
11GLANM_000169.2(GLA): c.166T> G (p.Cys56Gly)SNVPathogenicrs104894836GRCh37Chr X, 100662726: 100662726
12GLANM_000169.2(GLA): c.436C> T (p.Pro146Ser)SNVPathogenicrs104894837GRCh37Chr X, 100656731: 100656731
13GLANM_000169.2(GLA): c.466G> A (p.Ala156Thr)SNVPathogenicrs28935195GRCh37Chr X, 100656701: 100656701
14GLANM_000169.2(GLA): c.484T> C (p.Trp162Arg)SNVPathogenicrs28935196GRCh37Chr X, 100656683: 100656683
15GLANM_000169.2(GLA): c.606T> G (p.Cys202Trp)SNVPathogenicrs104894838GRCh37Chr X, 100655687: 100655687
16GLANM_000169.2(GLA): c.644A> G (p.Asn215Ser)SNVPathogenicrs28935197GRCh37Chr X, 100653930: 100653930
17GLANM_000169.2(GLA): c.806T> C (p.Val269Ala)SNVPathogenicrs28935488GRCh37Chr X, 100653551: 100653551
18GLANM_000169.2(GLA): c.680G> A (p.Arg227Gln)SNVPathogenicrs104894840GRCh37Chr X, 100653894: 100653894
19GLANM_000169.2(GLA): c.679C> T (p.Arg227Ter)SNVPathogenicrs104894841GRCh37Chr X, 100653895: 100653895
20GLANM_000169.2(GLA): c.791A> T (p.Asp264Val)SNVPathogenicrs28935486GRCh37Chr X, 100653783: 100653783
21GLANM_000169.2(GLA): c.797A> T (p.Asp266Val)SNVPathogenicrs28935487GRCh37Chr X, 100653777: 100653777
22GLANM_000169.2(GLA): c.861G> A (p.Trp287Ter)SNVPathogenicrs104894839GRCh37Chr X, 100653496: 100653496
23GLANM_000169.2(GLA): c.890C> T (p.Ser297Phe)SNVPathogenicrs28935489GRCh37Chr X, 100653467: 100653467
24GLANM_000169.2(GLA): c.979C> A (p.Gln327Lys)SNVPathogenicrs28935491GRCh37Chr X, 100653378: 100653378
25GLANM_000169.2(GLA): c.983G> C (p.Gly328Ala)SNVPathogenicrs28935492GRCh37Chr X, 100653374: 100653374
26GLANM_000169.2(GLA): c.1020G> A (p.Trp340Ter)SNVPathogenicrs104894842GRCh37Chr X, 100653067: 100653067
27GLANM_000169.2(GLA): c.1025G> A (p.Arg342Gln)SNVPathogenicrs28935493GRCh37Chr X, 100653062: 100653062
28GLANM_000169.2(GLA): c.1024C> T (p.Arg342Ter)SNVPathogenicrs104894843GRCh37Chr X, 100653063: 100653063
29GLANM_000169.2(GLA): c.1081G> C (p.Gly361Arg)SNVPathogenicrs28935494GRCh37Chr X, 100653006: 100653006
30GLANM_000169.2(GLA): c.1192G> T (p.Glu398Ter)SNVPathogenicrs104894844GRCh37Chr X, 100652895: 100652895
31GLANM_000169.2(GLA): c.369+2T> GSNVPathogenicrs387906483GRCh37Chr X, 100658797: 100658797
32GLAGLA, IVS5AS, DEL -2,-3deletionPathogenicChr na, -1: -1
33GLANM_000169.2(GLA): c.427G> A (p.Ala143Thr)SNVLikely pathogenic, Pathogenicrs104894845GRCh37Chr X, 100656740: 100656740
34GLAGLA, 13-BP DEL, NT125deletionPathogenicChr na, -1: -1
35GLAGLA, 1-BP DEL, NT716deletionPathogenicChr na, -1: -1
36GLAGLA, 2-BP DEL, NT773deletionPathogenicChr na, -1: -1
37GLAGLA, 5-BP INS, NT954insertionPathogenicChr na, -1: -1
38GLAGLA, 11-BP DEL, NT1016deletionPathogenicChr na, -1: -1
39GLAGLA, 1-BP INS, NT1040insertionPathogenicChr na, -1: -1
40GLAGLA, 53-BP DEL, NT1123deletionPathogenicChr na, -1: -1
41GLAGLA, 2-BP DEL, NT1176deletionPathogenicChr na, -1: -1
42GLAGLA, 3-BP DEL, 1208AAGdeletionPathogenicChr na, -1: -1
43GLAGLA, EX1-2DELdeletionPathogenicChr na, -1: -1
44GLAGLA, EX3-4DELdeletionPathogenicChr na, -1: -1
45GLAGLA, EX3-7DELdeletionPathogenicChr na, -1: -1
46GLAGLA, EX6-7DELdeletionPathogenicChr na, -1: -1
47GLAGLA, EX2-6DUPduplicationPathogenicChr na, -1: -1
48GLAGLA, 3-BP DEL, PHE383DELdeletionPathogenicChr na, -1: -1
49GLANM_000169.2(GLA): c.194G> C (p.Ser65Thr)SNVPathogenicrs104894848GRCh37Chr X, 100662698: 100662698
50GLANM_000169.2(GLA): c.1095T> A (p.Tyr365Ter)SNVPathogenicrs104894849GRCh37Chr X, 100652992: 100652992
51GLANM_000169.2(GLA): c.639+919G> ASNVPathogenicrs199473684GRCh37Chr X, 100654735: 100654735
52GLANM_000169.2(GLA): c.427G> C (p.Ala143Pro)SNVLikely pathogenic, Pathogenicrs104894845GRCh37Chr X, 100656740: 100656740
53GLANM_000169.2(GLA): c.666C> A (p.Tyr222Ter)SNVPathogenicrs104894851GRCh37Chr X, 100653908: 100653908
54GLANM_000169.2(GLA): c.1228A> G (p.Thr410Ala)SNVPathogenicrs104894852GRCh37Chr X, 100652859: 100652859
55GLAGLA, 2-BP DEL, 1277AAdeletionPathogenicChr na, -1: -1
56GLAGLA, 4-BP DEL, 1284ACTTdeletionPathogenicChr na, -1: -1
57GLANM_000169.2(GLA): c.815A> G (p.Asn272Ser)SNVPathogenicrs28935495GRCh37Chr X, 100653542: 100653542
58GLANM_000169.2(GLA): c.386T> C (p.Leu129Pro)SNVLikely pathogenicrs727503072GRCh37Chr X, 100656781: 100656781
59GLANM_000169.2(GLA): c.1024C> G (p.Arg342Gly)SNVLikely pathogenicrs104894843GRCh37Chr X, 100653063: 100653063
60GLANM_000169.2(GLA): c.1023A> C (p.Glu341Asp)SNVPathogenicrs797044497GRCh37Chr X, 100653064: 100653064
61GLANM_000169.2(GLA): c.802-3_802-2delCAdeletionPathogenicrs797044498GRCh37Chr X, 100653557: 100653558
62GLANM_000169.2(GLA): c.802-2A> GSNVPathogenicrs797044499GRCh37Chr X, 100653557: 100653557
63GLANM_000169.2(GLA): c.730G> A (p.Asp244Asn)SNVPathogenicrs727503948GRCh38Chr X, 101398856: 101398856
64GLANM_000169.2(GLA): c.658C> T (p.Arg220Ter)SNVPathogenicrs727503949GRCh38Chr X, 101398928: 101398928
65GLANM_000169.2(GLA): c.593T> C (p.Ile198Thr)SNVLikely pathogenic, drug responsers727503950GRCh38Chr X, 101400712: 101400712
66GLANM_000169.2(GLA): c.128delG (p.Gly43Alafs)deletionPathogenicrs797044500GRCh37Chr X, 100662764: 100662764
67GLANM_000169.2(GLA): c.1117G> A (p.Gly373Ser)SNVLikely pathogenicrs727504348GRCh37Chr X, 100652970: 100652970
68GLANM_000169.2(GLA): c.802-3_804delinsGGCAACTTTindelLikely pathogenicrs727504773GRCh37Chr X, 100653553: 100653558
69GLANM_000169.2(GLA): c.758T> C (p.Ile253Thr)SNVPathogenic, drug responsers727505292GRCh38Chr X, 101398828: 101398828
70GLANM_000169.2(GLA): c.847C> T (p.Gln283Ter)SNVPathogenicrs730880452GRCh38Chr X, 101398522: 101398522
71GLANM_000169.2(GLA): c.1072_1074delGAG (p.Glu358del)deletionPathogenicrs730880453GRCh38Chr X, 101398025: 101398027
72GLANM_000169.2(GLA): c.80delC (p.Pro27Leufs)deletionPathogenicrs730880454GRCh38Chr X, 101407824: 101407824
73GLANM_000169.2(GLA): c.124A> C (p.Met42Leu)SNVPathogenicrs797044613GRCh37Chr X, 100662768: 100662768
74GLANM_000169.2(GLA): c.137A> G (p.His46Arg)SNVPathogenicrs398123203GRCh37Chr X, 100662755: 100662755
75GLANM_000169.2(GLA): c.369+1G> ASNVPathogenicrs797044669GRCh37Chr X, 100658798: 100658798
76GLANM_000169.2(GLA): c.361_364delGCTA (p.Ala121Ilefs)deletionPathogenicrs797044670GRCh37Chr X, 100658804: 100658807
77GLANM_000169.2(GLA): c.335G> A (p.Arg112His)SNVPathogenicrs372966991GRCh37Chr X, 100658833: 100658833
78GLANM_000169.2(GLA): c.469C> T (p.Gln157Ter)SNVPathogenicrs797044702GRCh37Chr X, 100656698: 100656698
79GLANM_000169.2(GLA): c.485G> A (p.Trp162Ter)SNVPathogenicrs727504350GRCh37Chr X, 100656682: 100656682
80GLANM_000169.2(GLA): c.620A> G (p.Tyr207Cys)SNVPathogenicrs797044727GRCh37Chr X, 100655673: 100655673
81GLANM_000169.2(GLA): c.704C> G (p.Ser235Cys)SNVLikely pathogenicrs797044746GRCh37Chr X, 100653870: 100653870
82GLANM_000169.2(GLA): c.661C> T (p.Gln221Ter)SNVPathogenicrs797044747GRCh37Chr X, 100653913: 100653913
83GLANM_000169.2(GLA): c.801+3A> GSNVPathogenicrs797044748GRCh37Chr X, 100653770: 100653770
84GLANM_000169.2(GLA): c.916C> T (p.Gln306Ter)SNVPathogenicrs797044768GRCh37Chr X, 100653441: 100653441
85GLANM_000169.2(GLA): c.982G> C (p.Gly328Arg)SNVPathogenicrs104894832GRCh37Chr X, 100653375: 100653375
86GLANM_000169.2(GLA): c.879_880delTTinsAATC (p.Leu294Ilefs)indelPathogenicrs797044769GRCh37Chr X, 100653477: 100653478
87GLANM_000169.2(GLA): c.1072G> A (p.Glu358Lys)SNVPathogenicrs797044774GRCh37Chr X, 100653015: 100653015
88GLANM_000169.2(GLA): c.1157A> C (p.Gln386Pro)SNVPathogenicrs797044775GRCh37Chr X, 100652930: 100652930
89GLANM_000169.2(GLA): c.1087C> T (p.Arg363Cys)SNVPathogenicrs797044776GRCh37Chr X, 100653000: 100653000
90GLANM_000169.2(GLA): c.1235_1236delCT (p.Thr412Serfs)deletionPathogenicrs797044777GRCh37Chr X, 100652851: 100652852
91GLANM_000169.2(GLA): c.7C> G (p.Leu3Val)SNVdrug responsers869312133GRCh37Chr X, 100662885: 100662885
92GLANM_000169.2(GLA): c.59C> A (p.Ala20Asp)SNVPathogenic, drug responsers869312134GRCh37Chr X, 100662833: 100662833
93GLANM_000169.2(GLA): c.62T> C (p.Leu21Pro)SNVPathogenic, drug responsers869312135GRCh37Chr X, 100662830: 100662830
94GLANM_000169.2(GLA): c.98A> G (p.Asp33Gly)SNVPathogenic, drug responsers869312136GRCh38Chr X, 101407806: 101407806
95GLANM_000169.2(GLA): c.104G> A (p.Gly35Glu)SNVPathogenic, drug responsers869312137GRCh37Chr X, 100662788: 100662788
96GLANM_000169.2(GLA): c.107T> G (p.Leu36Trp)SNVPathogenic, drug responsers869312138GRCh38Chr X, 101407797: 101407797
97GLANM_000169.2(GLA): c.190A> T (p.Ile64Phe)SNVPathogenic, drug responsers869312139GRCh38Chr X, 101407714: 101407714
98GLANM_000169.2(GLA): c.212A> G (p.Glu71Gly)SNVdrug responsers781927744GRCh37Chr X, 100658956: 100658956
99GLANM_000169.2(GLA): c.239G> A (p.Gly80Asp)SNVLikely pathogenic, drug responsers781838005GRCh37Chr X, 100658929: 100658929
100GLANM_000169.2(GLA): c.256T> C (p.Tyr86His)SNVPathogenic, drug responsers869312140GRCh37Chr X, 100658912: 100658912
101GLANM_000169.2(GLA): c.272T> A (p.Ile91Asn)SNVPathogenic, drug responsers869312141GRCh38Chr X, 101403908: 101403908
102GLANM_000169.2(GLA): c.337T> A (p.Phe113Ile)SNVLikely pathogenic, drug responsers869312142GRCh38Chr X, 101403843: 101403843
103GLANM_000169.2(GLA): c.361G> A (p.Ala121Thr)SNVdrug responsers782197638GRCh38Chr X, 101403819: 101403819
104GLANM_000169.2(GLA): c.461T> C (p.Ile154Thr)SNVdrug responsers869312143GRCh37Chr X, 100656706: 100656706
105GLANM_000169.2(GLA): c.490G> T (p.Val164Leu)SNVdrug responsers869312144GRCh37Chr X, 100656677: 100656677
106GLANM_000169.2(GLA): c.540G> T (p.Leu180Phe)SNVPathogenic, drug responsers869312145GRCh37Chr X, 100656627: 100656627
107GLANM_000169.2(GLA): c.561G> A (p.Met187Ile)SNVPathogenic, drug responsers869312146GRCh37Chr X, 100655732: 100655732
108GLANM_000169.2(GLA): c.588A> C (p.Arg196Ser)SNVdrug responsers869312147GRCh37Chr X, 100655705: 100655705
109GLANM_000169.2(GLA): c.610T> C (p.Trp204Arg)SNVPathogenic, drug responsers869312148GRCh37Chr X, 100655683: 100655683
110GLANM_000169.2(GLA): c.638A> G (p.Lys213Arg)SNVPathogenic, drug responsers869312149GRCh38Chr X, 101400667: 101400667
111GLANM_000169.2(GLA): c.641C> T (p.Pro214Leu)SNVLikely pathogenic, drug responsers869312150GRCh37Chr X, 100653933: 100653933
112GLANM_000169.2(GLA): c.657C> G (p.Ile219Met)SNVLikely pathogenic, drug responsers869312151GRCh37Chr X, 100653917: 100653917
113GLANM_000169.2(GLA): c.680G> C (p.Arg227Pro)SNVPathogenic, drug responsers104894840GRCh37Chr X, 100653894: 100653894
114GLANM_000169.2(GLA): c.683A> G (p.Asn228Ser)SNVdrug responsers869312152GRCh37Chr X, 100653891: 100653891
115GLANM_000169.2(GLA): c.724A> G (p.Ile242Val)SNVPathogenic, drug responsers397515873GRCh37Chr X, 100653850: 100653850
116GLANM_000169.2(GLA): c.761T> C (p.Val254Ala)SNVLikely pathogenic, drug responsers869312153GRCh38Chr X, 101398825: 101398825
117GLANM_000169.2(GLA): c.784T> C (p.Trp262Arg)SNVPathogenic, drug responsers869312154GRCh37Chr X, 100653790: 100653790
118GLANM_000169.2(GLA): c.806T> G (p.Val269Gly)SNVPathogenic, drug responsers28935488GRCh37Chr X, 100653551: 100653551
119GLANM_000169.2(GLA): c.865A> G (p.Ile289Val)SNVdrug responsers140329381GRCh38Chr X, 101398504: 101398504
120GLANM_000169.2(GLA): c.926C> T (p.Ala309Val)SNVdrug responsers869312155GRCh37Chr X, 100653431: 100653431
121GLANM_000169.2(GLA): c.937G> A (p.Asp313Asn)SNVdrug responsers28935490GRCh38Chr X, 101398432: 101398432
122GLANM_000169.2(GLA): c.943G> A (p.Asp315Asn)SNVdrug responsers869312156GRCh37Chr X, 100653414: 100653414
123GLANM_000169.2(GLA): c.947T> C (p.Val316Ala)SNVdrug responsers869312157GRCh37Chr X, 100653410: 100653410
124GLANM_000169.2(GLA): c.950T> G (p.Ile317Ser)SNVPathogenic, drug responsers869312158GRCh38Chr X, 101398419: 101398419
125GLANM_000169.2(GLA): c.968C> G (p.Pro323Arg)SNVdrug responsers869312159GRCh38Chr X, 101398401: 101398401
126GLANM_000169.2(GLA): c.980A> G (p.Gln327Arg)SNVPathogenic, drug responsers869312160GRCh37Chr X, 100653377: 100653377
127GLANM_000169.2(GLA): c.980A> T (p.Gln327Leu)SNVPathogenic, drug responsers869312160GRCh37Chr X, 100653377: 100653377
128GLANM_000169.2(GLA): c.989A> G (p.Gln330Arg)SNVdrug responsers869312161GRCh37Chr X, 100653368: 100653368
129GLANM_000169.2(GLA): c.1055C> G (p.Ala352Gly)SNVdrug responsers869312162GRCh38Chr X, 101398044: 101398044
130GLANM_000169.2(GLA): c.1067G> C (p.Arg356Pro)SNVPathogenic, drug responsers869312163GRCh37Chr X, 100653020: 100653020
131GLANM_000169.2(GLA): c.1124G> C (p.Gly375Ala)SNVLikely pathogenic, drug responsers869312164GRCh37Chr X, 100652963: 100652963
132GLANM_000169.2(GLA): c.1176G> T (p.Arg392Ser)SNVLikely pathogenic, drug responsers869312165GRCh37Chr X, 100652911: 100652911
133GLANM_000169.2(GLA): c.1196G> C (p.Trp399Ser)SNVLikely pathogenic, drug responsers782449839GRCh37Chr X, 100652891: 100652891
134GLANM_000169.2(GLA): c.1088G> A (p.Arg363His)SNVPathogenicrs111422676GRCh37Chr X, 100652999: 100652999
135GLANM_000169.2(GLA): c.1118G> A (p.Gly373Asp)SNVPathogenicrs869312227GRCh37Chr X, 100652969: 100652969
136GLANM_000169.2(GLA): c.605G> A (p.Cys202Tyr)SNVPathogenicrs869312344GRCh38Chr X, 101400700: 101400700
137GLANM_000169.2(GLA): c.1229C> T (p.Thr410Ile)SNVLikely pathogenicrs730880442GRCh38Chr X, 101397870: 101397870
138GLANM_000169.2(GLA): c.823delC (p.Leu275Serfs)deletionLikely pathogenicrs869025435GRCh38Chr X, 101398546: 101398546
139GLANM_000169.2(GLA): c.1225C> T (p.Pro409Ser)SNVLikely pathogenicrs878853698GRCh37Chr X, 100652862: 100652862
140GLANM_000169.2(GLA): c.295dupC (p.Gln99Profs)duplicationPathogenicrs886039136GRCh37Chr X, 100658873: 100658873
141GLANM_000169.2(GLA): c.830G> A (p.Trp277Ter)SNVPathogenicrs886044766GRCh37Chr X, 100653527: 100653527
142GLANM_000169.2(GLA): c.979C> T (p.Gln327Ter)SNVPathogenicrs28935491GRCh37Chr X, 100653378: 100653378
143GLANM_000169.2(GLA): c.1057_1058delAT (p.Met353Aspfs)deletionPathogenicrs886044829GRCh37Chr X, 100653029: 100653030
144GLANM_000169.2(GLA): c.422C> T (p.Thr141Ile)SNVPathogenicrs886044843GRCh37Chr X, 100656745: 100656745
145GLANM_000169.2(GLA): c.424T> C (p.Cys142Arg)SNVPathogenicrs886044845GRCh37Chr X, 100656743: 100656743
146GLANM_000169.2(GLA): c.1166delC (p.Pro389Leufs)deletionPathogenicrs886044846GRCh37Chr X, 100652921: 100652921
147GLANM_000169.2(GLA): c.999+2T> CSNVPathogenicrs886044860GRCh37Chr X, 100653356: 100653356
148GLANM_000169.2(GLA): c.614C> T (p.Pro205Leu)SNVLikely pathogenicrs886044879GRCh37Chr X, 100655679: 100655679
149GLANM_000169.2(GLA): c.195-1G> TSNVPathogenicrs398123206GRCh37Chr X, 100658974: 100658974
150GLANM_000169.2(GLA): c.285G> A (p.Trp95Ter)SNVPathogenicrs886044900GRCh37Chr X, 100658883: 100658883
151GLANM_000169.2(GLA): c.127G> A (p.Gly43Ser)SNVLikely pathogenicrs886044906GRCh37Chr X, 100662765: 100662765
152GLANM_000169.2(GLA): c.1023delA (p.Glu341Aspfs)deletionPathogenicrs886044909GRCh37Chr X, 100653064: 100653064
153GLANM_000169.2: c.244A> TSNVLikely pathogenicChr na, -1: -1
154GLANM_000169.2(GLA): c.352C> T (p.Arg118Cys)SNVLikely pathogenicrs148158093GRCh37Chr X, 100658816: 100658816
155GLANM_000169.2(GLA): c.613C> A (p.Pro205Thr)SNVLikely pathogenic, Pathogenicrs397515870GRCh37Chr X, 100655680: 100655680
156GLANM_000169.2(GLA): c.724A> T (p.Ile242Phe)SNVLikely pathogenicrs397515873GRCh37Chr X, 100653850: 100653850
157GLANM_000169.2(GLA): c.1019_1020insA (p.Trp340Terfs)insertionPathogenicrs398123197GRCh37Chr X, 100653067: 100653068
158GLANM_000169.2(GLA): c.1033_1034delTC (p.Ser345Argfs)deletionPathogenicrs398123198GRCh37Chr X, 100653053: 100653054
159GLANM_000169.2(GLA): c.119C> G (p.Pro40Arg)SNVLikely pathogenicrs398123199GRCh37Chr X, 100662773: 100662773
160GLANM_000169.2(GLA): c.125T> C (p.Met42Thr)SNVLikely pathogenicrs398123201GRCh37Chr X, 100662767: 100662767
161GLANM_000169.2(GLA): c.137A> T (p.His46Leu)SNVPathogenicrs398123203GRCh37Chr X, 100662755: 100662755
162GLANM_000169.2(GLA): c.146G> C (p.Arg49Pro)SNVLikely pathogenicrs398123205GRCh37Chr X, 100662746: 100662746
163GLANM_000169.2(GLA): c.195-1G> CSNVPathogenicrs398123206GRCh37Chr X, 100658974: 100658974
164GLANM_000169.2(GLA): c.19G> T (p.Glu7Ter)SNVPathogenicrs398123207GRCh37Chr X, 100662873: 100662873
165GLANM_000169.2(GLA): c.242G> A (p.Trp81Ter)SNVPathogenicrs398123208GRCh37Chr X, 100658926: 100658926
166GLANM_000169.2(GLA): c.281G> A (p.Cys94Tyr)SNVPathogenicrs113173389GRCh37Chr X, 100658887: 100658887
167GLANM_000169.2(GLA): c.334C> T (p.Arg112Cys)SNVPathogenicrs104894834GRCh37Chr X, 100658834: 100658834
168GLANM_000169.2(GLA): c.335G> T (p.Arg112Leu)SNVLikely pathogenicrs372966991GRCh37Chr X, 100658833: 100658833
169GLANM_000169.2(GLA): c.509A> G (p.Asp170Gly)SNVPathogenicrs398123210GRCh37Chr X, 100656658: 100656658
170GLANM_000169.2(GLA): c.548-2A> GSNVPathogenicrs398123211GRCh37Chr X, 100655747: 100655747
171GLANM_000169.2(GLA): c.548G> T (p.Gly183Val)SNVPathogenicrs398123212GRCh37Chr X, 100655745: 100655745
172GLANM_000169.2(GLA): c.630delC (p.Gln212Lysfs)deletionPathogenicrs398123214GRCh37Chr X, 100655663: 100655663
173GLANM_000169.2(GLA): c.640-1G> TSNVPathogenicrs398123216GRCh37Chr X, 100653935: 100653935
174GLANM_000169.2(GLA): c.647A> G (p.Tyr216Cys)SNVPathogenicrs398123217GRCh37Chr X, 100653927: 100653927
175GLANM_000169.2(GLA): c.662_663delAG (p.Gln221Leufs)deletionPathogenicrs398123218GRCh37Chr X, 100653911: 100653912
176GLANM_000169.2(GLA): c.677G> A (p.Trp226Ter)SNVPathogenicrs398123219GRCh37Chr X, 100653897: 100653897
177GLANM_000169.2(GLA): c.734G> A (p.Trp245Ter)SNVPathogenicrs398123220GRCh37Chr X, 100653840: 100653840
178GLANM_000169.2(GLA): c.748C> T (p.Gln250Ter)SNVPathogenicrs398123221GRCh37Chr X, 100653826: 100653826
179GLANM_000169.2(GLA): c.823C> T (p.Leu275Phe)SNVLikely pathogenicrs398123222GRCh37Chr X, 100653534: 100653534
180GLANM_000169.2(GLA): c.865A> T (p.Ile289Phe)SNVPathogenicrs140329381GRCh37Chr X, 100653492: 100653492
181GLANM_000169.2(GLA): c.899T> C (p.Leu300Pro)SNVPathogenicrs398123223GRCh37Chr X, 100653458: 100653458
182GLANM_000169.2(GLA): c.901C> T (p.Arg301Ter)SNVPathogenicrs398123224GRCh37Chr X, 100653456: 100653456
183GLANM_000169.2(GLA): c.959_962delATCA (p.Asn320Argfs)deletionPathogenicrs398123225GRCh37Chr X, 100653395: 100653398
184GLANM_000169.2(GLA): c.966C> G (p.Asp322Glu)SNVPathogenicrs398123226GRCh37Chr X, 100653391: 100653391
185GLANM_000169.2(GLA): c.973G> A (p.Gly325Ser)SNVLikely pathogenicrs398123227GRCh37Chr X, 100653384: 100653384
186GLANM_000169.2(GLA): c.974G> A (p.Gly325Asp)SNVPathogenicrs398123228GRCh37Chr X, 100653383: 100653383
187GLANM_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
19.0FUCA1, 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:004329210.0CST3, TNNI3
2lysosomal lumenGO:00432029.9FUCA1, GLA, LAMP2, PSAP
3lysosomeGO:00057649.2CST3, GLA, LAMP2, NAGA
4extracellular exosomeGO:00700628.0A4GALT, CST3, DDC, FUCA1, GLA, LAMP2

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

idNameGO IDScoreTop Affiliating Genes
1glycoside catabolic processGO:001613910.3FUCA1, 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:000455710.6GLA, NAGA
2protein domain specific bindingGO:00199048.8DDC, LAMP2, TNNI3

Sources for Fabry Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet