MCID: FBR012
MIFTS: 75

Fabry Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Fabry Disease

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 22GeneTests, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Fabry Disease:

Name: Fabry Disease 49 10 11 68 21 45 23 46 47 12 51 65 36 67
Alpha-Galactosidase a Deficiency 10 68 21 45 22 23 51
Anderson-Fabry Disease 68 21 45 22 23 51
Angiokeratoma Corporis Diffusum 10 68 45 23 51
Fabry's Disease 10 22 23 24
Gla Deficiency 68 45 22 23
Ceramide Trihexosidase Deficiency 68 45 23
Hereditary Dystopic Lipidosis 68 45 23
 
Fabry Disease, Cardiac Variant 49 24
Angiokeratoma Diffuse 68 23
Fd 51 67
Alpha Galactosidase Deficiency 10
Deficiency of Melibiase 10
Angiokeratoma, Diffuse 45
Diffuse Angiokeratoma 51
Galactosidase, Alpha 11


Classifications:



Characteristics (Orphanet epidemiological data):

51
fabry disease:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult


External Ids:

OMIM49 301500
Disease Ontology10 DOID:14499
Orphanet51 324
ICD10 via Orphanet28 E75.2
MESH via Orphanet37 D000795
UMLS via Orphanet66 C0002986

Summaries for Fabry Disease

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OMIM:49 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 fucosidosis and mucolipidosis ii alpha/beta, 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 Thromboxane A2 receptor signaling. The drug agalsidase beta has been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related mouse phenotypes are renal/urinary system and muscle.

NIH Rare Diseases:45 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells and affects many parts of the body. signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. potentially severe complications can include progressive kidney damage, heart attack, and stroke. milder forms of the disorder may appear later in life and affect only the heart or kidneys. fabry disease is caused by mutations in the gla gene and is inherited in an x-linked manner. treatment may include enzyme replacement therapy (ert); pain medications, ace inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease. last updated: 7/28/2011

NINDS:46 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:23 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.

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... more...

GeneReviews summary for fabry

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 331)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.0FUCA1, NAGA
2mucolipidosis ii alpha/beta29.7FUCA1, PSAP
3hypertension, essential29.6CST3, ICAM1, NOS3, UMOD
4angiokeratoma corporis diffusum with arteriovenous fistulas10.9
5sphingolipidosis10.8
6cerebrovascular disease10.8
7encephalopathy10.8
8lysosomal storage disease10.8
9cerebral lipidosis10.8
10metabolic syndrome x10.8
11central nervous system disease10.8
12lipid metabolism disorder10.8
13lipid storage disease10.8
14prion disease10.8
15x-linked disease10.8
16genetic brain disorders10.8
17vascular disease10.8
18nervous system disease10.8
19kanzaki disease10.8
20aspartylglucosaminuria10.6
21mannosidosis10.6
22schindler disease10.6
23angiokeratoma10.6
24nutritional deficiency disease10.6
25cardiomyopathy10.6
26stroke, ischemic10.5
27neurologic diseases10.5
28dysautonomia, familial10.5
29skin disease10.5
30vascular skin disease10.5
31pain disorder10.5
32endotheliitis10.5
33kidney disease10.5
34neuropathy10.5
35physical disorder10.5
36classic fabry disease10.5
37myocardial infarction10.5
38gm1-gangliosidosis, type i10.5
39hodgkin lymphoma10.5
40galactosialidosis10.5
41schindler disease, type i10.5
42arteriovenous fistula10.5
43angiokeratoma circumscriptum10.5
44diarrhea10.5
45mccallum macadam johnston syndrome10.5
46coronary heart disease 310.5
47glomerular disease10.5
48hypertrophic cardiomyopathy10.4
49coronary heart disease 610.4
50primary hyperoxaluria10.4

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



Diseases related to fabry disease

Symptoms for Fabry Disease

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Symptoms by clinical synopsis from OMIM:

301500

Clinical features from OMIM:

301500

Symptoms:

 51 (show all 66)
  • corneal clouding/opacity/vascularisation
  • corneal dystrophy
  • conjunctival telangiectasia
  • hearing loss/hypoacusia/deafness
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • vascular anomalies of skin/mucosae
  • telangiectasiae of the skin
  • telangiectasiae of mucosae
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • heart/cardiac failure
  • renal failure
  • nephrotic syndrome
  • hematuria/microhematuria
  • transient cerebral ischemia/stroke
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • anaemia
  • x-linked recessive inheritance
  • asthenia/fatigue/weakness
  • coarse face
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • thick lips
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • emphysema
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • renal disease/nephropathy
  • renal tubular defect/tubulopathy
  • proteinuria
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • anorexia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • lipidosis/sulfatidosis
  • short stature/dwarfism/nanism
  • dizziness
  • sensorineural deafness/hearing loss
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • cardiomyopathy/hypertrophic/dilated
  • myocardium anomalies/myocarditis
  • endocardium anomalies/fibroelastosis/endocarditis
  • cardiac rhythm disorder/arrhythmia
  • angor pectoris/myocardial infarction
  • chronic arterial hypertension
  • lymphedema
  • renal glomerular defect/glomerulopathy
  • diabetes insipidus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperesthesia/allodynia/hyperalgia
  • psychic/psychomotor regression/dementia/intellectual decline
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • fever/chilling

HPO human phenotypes related to Fabry Disease:

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

Drugs & Therapeutics for Fabry Disease

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Coal TarPhase 4155
2
Nitric OxideapprovedPhase 254010102-43-9145068
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)
Inomax
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 2346
4
Losartanapproved265114798-26-43961
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
5
Nitroprussideapproved5715078-28-111963622
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
Sodium nitroprusside dihydrate
Sodium nitroprusside extra pure
UNII-169D1260KM
[Fe(CN)5(NO)](2-)
nitroferricyanide
6
Enalaprilapproved10475847-73-35362032, 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
7
Fluoresceinapproved1042321-07-516850
Synonyms:
2-(6-Hydroxy-3-oxo-3H-xanthen-9-yl)-benzoic acid
3',6'-dihydroxyfluoran
3,6-fluorandiol
9-(o-carboxyphenyl)-6-hydroxy-3-isoxanthenone
9-(o-carboxyphenyl)-6-hydroxy-3H-xanthen-3-one
Ak-fluor
C.I. Solvent Yellow 94
D and C Yellow No. 7
 
D&C Yellow No. 7
Fluorescein disodium
Fluoresceine
Fluorescite
Fluoreszein
Japan Yellow 201
Resorcinolphthalein
Solvent Yellow 94
Yellow fluorescein
8
Iohexolapproved4566108-95-03730
Synonyms:
Iohexolum
 
N,N'-Bis(2,3-dihydroxypropyl)-5-(N-(2,3-dihydroxypropyl)acetamido)-2,4,6-triiodoisophthalamide
Omnipaque
9
Tropicamideapproved211508-75-45593
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
10
Mentholapproved17482216-51-516666
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
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
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
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
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
11
Ergocalciferolapproved, nutraceutical88550-14-65280793
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 D
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
12
Acetylcholineexperimental10451-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
13vitamin d1463
14
Enalaprilat10476420-72-96917719
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)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalprilat hydrate
15Ergocalciferols885
16Mydriatics470
17
Hydroquinone33123-31-9785
Synonyms:
1,4-Benzenediol
1,4-Dihydroxy-benzeen
1,4-Dihydroxy-benzol
1,4-Dihydroxybenzen
1,4-Diidrobenzene
4-Hydroxyphenol
Benzene-1,4-diol
Benzohydroquinone
Benzoquinol
Dihydroquinone
Dihydroxybenzene
Hydrochinon
Hydrochinone
Hydroquinol
Hydroquinole
Hydroquinone
Hydroquinone for synthesis
 
Hydroquinone gr
Hydroquinoue
Idrochinone
Melanex
Phiaquin
Quinol
Solaquin forte
a-Hydroquinone
alpha-Hydroquinone
b-Quinol
beta-Quinol
p-Benzenediol
p-Dihydroxybenzene
p-Dioxobenzene
p-Dioxybenzene
p-Hydroquinone
p-Hydroxybenzene
p-Hydroxyphenol
18Vitamin D2Nutraceutical885
19CalciferolNutraceutical1028

Interventional clinical trials:

(show top 50)    (show all 102)
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
14Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry DiseaseCompletedNCT00925301Phase 3
15Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry DiseaseCompletedNCT00864851Phase 3
16Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry DiseaseCompletedNCT01124643Phase 3
17A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe SymptomsCompletedNCT00701415Phase 3
18Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry DiseaseRecruitingNCT02194985Phase 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
21Open-Label Phase 3 Long-Term Safety Study of MigalastatActive, not recruitingNCT01458119Phase 3
22Alpha-Galactosidase A Replacement Therapy for Fabry DiseaseCompletedNCT00048906Phase 2
23An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry DiseaseCompletedNCT00071877Phase 2
24Dosing Study of Replagal in Patients With Fabry DiseaseCompletedNCT00068107Phase 2
25Alternative Dosing and Regimen of Replagal to Treat Fabry DiseaseCompletedNCT00075244Phase 2
26Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 StudyCompletedNCT00526071Phase 2
27Replagal Enzyme Replacement Therapy for Children With Fabry DiseaseCompletedNCT00084084Phase 2
28A Study of Fabrazyme in Pediatric Patients With Fabry DiseaseCompletedNCT00074958Phase 2
29Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry DiseaseCompletedNCT01196871Phase 2
30A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseCompletedNCT00196716Phase 2
31A Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00214500Phase 2
32Safety Study of Replagal® Therapy in Children With Fabry DiseaseCompletedNCT01363492Phase 2
33A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00283933Phase 2
34A 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry DiseaseCompletedNCT00304512Phase 2
35A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry DiseaseCompletedNCT00283959Phase 2
36This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.CompletedNCT01304277Phase 2
37Effectiveness of Arginine as a Treatment for Sickle Cell AnemiaCompletedNCT00513617Phase 2
38Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry DiseaseRecruitingNCT02228460Phase 2
39Dose-ranging Study of PRX-102 in Adult Fabry Disease PatientsActive, not recruitingNCT01678898Phase 1, Phase 2
40Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry DiseaseEnrolling by invitationNCT02489344Phase 2
41An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry PatientsEnrolling by invitationNCT01769001Phase 1, Phase 2
42Extension Study of PRX-102 for 24 MonthsEnrolling by invitationNCT01981720Phase 1, Phase 2
43Severe Renal Disease Study in Fabry Patients Treated With FabrazymeTerminatedNCT00837824Phase 2
44Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry DiseaseWithdrawnNCT01588314Phase 2
45An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry DiseaseCompletedNCT00357786Phase 1
46A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy VolunteersCompletedNCT02082327Phase 1
47A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)CompletedNCT01730482Phase 1
48A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese SubjectsCompletedNCT01853852Phase 1
49Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming CellsCompletedNCT00001234Phase 1
50Migalastat Food Effect StudyCompletedNCT01489995Phase 1

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS65/NDF-RT43:


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 Disease22 GLA
2 Fabry's Disease24
3 Fabry Disease, Cardiac Variant24

Anatomical Context for Fabry Disease

About this section

MalaCards organs/tissues related to Fabry Disease:

33
Skin, Heart, Kidney, Eye, Endothelial, Bone, Lung

Animal Models for Fabry Disease or affiliated genes

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MGI Mouse Phenotypes related to Fabry Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1DDC, GLA, KCNN4, NOS3, PSAP, UMOD
2MP:00053697.6CST3, GLA, ICAM1, KCNN4, LAMP2, NOS3
3MP:00053856.9CST3, DDC, GLA, ICAM1, KCNN4, LAMP2
4MP:00053876.6A4GALT, DDC, GLA, ICAM1, KCNN4, LAMP2
5MP:00053765.8A4GALT, CST3, DDC, ICAM1, KCNN4, LAMP2

Publications for Fabry Disease

About this section

Articles related to Fabry Disease:

(show top 50)    (show all 675)
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
Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports. (25327101)
2014
4
Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. (24679964)
2014
5
A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. (25295576)
2014
6
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses. (24239767)
2013
7
Fabry disease. (23931807)
2013
8
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. (24020479)
2013
9
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. (23385635)
2013
10
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
11
Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. (23608164)
2013
12
Characterization of Pain in Fabry Disease. (24121530)
2013
13
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. (23023720)
2013
14
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease. (22905681)
2013
15
Ta88 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. (23922004)
2013
16
Fabry disease: is there a role for enzyme replacement therapy? (23662843)
2013
17
Enzyme replacement therapy improves cardiac features and severity of Fabry disease. (22704481)
2012
18
Clinical utility gene card for: Fabry disease. (21934708)
2012
19
Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy. (23118528)
2012
20
Fabry disease: raising awareness of the disease among physicians. (23073862)
2012
21
Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. (21744250)
2012
22
Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients. (22796398)
2012
23
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report. (22682330)
2012
24
Prominent papillary muscles in Fabry disease: a diagnostic marker? (21084151)
2011
25
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. (20851180)
2011
26
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy. (21857019)
2011
27
Fabry disease: results of the first UK hemodialysis screening study. (21612753)
2011
28
Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease. (21700093)
2011
29
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
30
The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. (20965976)
2010
31
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. (20108436)
2010
32
Ocular manifestations of Fabry disease within in a single kindred. (20615758)
2010
33
Fabry disease. (19318041)
2009
34
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. (19852524)
2009
35
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. (18003767)
2008
36
Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. (17610610)
2007
37
Fabry disease. An interdisciplinary challenge]. (17940933)
2007
38
Effect of renin-angiotensin system in Fabry disease associated proteinuria]. (17397632)
2007
39
Gastrointestinal manifestations of Fabry disease (21290669)
2006
40
Fabry disease. (16511611)
2006
41
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (15712228)
2005
42
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. (16151917)
2005
43
Measurement of renal function in patients with Fabry disease. (15895707)
2005
44
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. (12938095)
2003
45
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (10666480)
1999
46
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease. (9452068)
1998
47
Fabry disease (alpha-galactosidase deficiency)]. (9645084)
1998
48
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. (1315304)
1992
49
Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection]. (1886355)
1991
50
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. (6160883)
1980

Variations for Fabry Disease

About this section

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

67 (show all 157)
id Symbol AA change Variation ID SNP ID
1GLAp.Leu32ProVAR_000431
2GLAp.Asn34SerVAR_000432rs28935192
3GLAp.Gly35ArgVAR_000433
4GLAp.Pro40SerVAR_000434
5GLAp.Arg49LeuVAR_000435
6GLAp.Cys52ArgVAR_000436
7GLAp.Cys52SerVAR_000437
8GLAp.Cys56PheVAR_000438
9GLAp.Cys56GlyVAR_000439rs28935193
10GLAp.Glu59LysVAR_000440
11GLAp.Glu66GlnVAR_000441rs28935191
12GLAp.Met72ValVAR_000442
13GLAp.Gly85AspVAR_000443
14GLAp.Leu89ArgVAR_000444
15GLAp.Arg100LysVAR_000445
16GLAp.Arg112CysVAR_000447
17GLAp.Arg112HisVAR_000448
18GLAp.Gly128GluVAR_000450
19GLAp.Leu131ProVAR_000451
20GLAp.Cys142TyrVAR_000452
21GLAp.Ala143ProVAR_000453
22GLAp.Gly144ValVAR_000454
23GLAp.Pro146SerVAR_000455rs28935194
24GLAp.Ala156ThrVAR_000456rs28935195
25GLAp.Ala156ValVAR_000457
26GLAp.Trp162ArgVAR_000458rs28935196
27GLAp.Asp165ValVAR_000459
28GLAp.Leu166ValVAR_000460
29GLAp.Cys172TyrVAR_000461
30GLAp.Cys202TrpVAR_000462rs28936082
31GLAp.Pro205ThrVAR_000463
32GLAp.Asn215SerVAR_000464rs28935197
33GLAp.Ile219AsnVAR_000465
34GLAp.Asn224AspVAR_000466
35GLAp.Arg227GlnVAR_000467rs28935198
36GLAp.Asp231AsnVAR_000468
37GLAp.Asp244AsnVAR_000469
38GLAp.Asp264ValVAR_000471rs28935486
39GLAp.Asp266ValVAR_000472rs28935487
40GLAp.Val269AlaVAR_000473rs28935488
41GLAp.Asn272LysVAR_000474
42GLAp.Gln279GluVAR_000475rs28935485
43GLAp.Met284ThrVAR_000476
44GLAp.Ala288AspVAR_000477
45GLAp.Met296ValVAR_000478
46GLAp.Ser297PheVAR_000479rs28935489
47GLAp.Asn298LysVAR_000480
48GLAp.Arg301GlnVAR_000481
49GLAp.Asp313TyrVAR_000482rs28935490
50GLAp.Val316GluVAR_000483
51GLAp.Gln327LysVAR_000484rs28935491
52GLAp.Gly328ArgVAR_000485
53GLAp.Gly328AlaVAR_000486rs28935492
54GLAp.Arg342GlnVAR_000487rs28935493
55GLAp.Arg356TrpVAR_000488
56GLAp.Glu358LysVAR_000489
57GLAp.Gly361ArgVAR_000491rs28935494
58GLAp.Ala20ProVAR_012362
59GLAp.Ala31ValVAR_012363
60GLAp.Pro40LeuVAR_012364
61GLAp.Met42ValVAR_012365
62GLAp.His46ArgVAR_012367
63GLAp.His46TyrVAR_012368
64GLAp.Trp47GlyVAR_012369
65GLAp.Arg49ProVAR_012370
66GLAp.Arg49SerVAR_012371
67GLAp.Cys56TyrVAR_012372
68GLAp.Tyr86CysVAR_012373
69GLAp.Leu89ProVAR_012374
70GLAp.Ile91ThrVAR_012375
71GLAp.Asp92HisVAR_012376
72GLAp.Asp92TyrVAR_012377
73GLAp.Asp93GlyVAR_012378
74GLAp.Cys94SerVAR_012379
75GLAp.Cys94TyrVAR_012380
76GLAp.Trp95SerVAR_012381
77GLAp.Ala97ValVAR_012382
78GLAp.Arg100ThrVAR_012383
79GLAp.Phe113LeuVAR_012384
80GLAp.Phe113SerVAR_012385
81GLAp.Tyr134SerVAR_012386
82GLAp.Gly138ArgVAR_012387
83GLAp.Cys142ArgVAR_012388
84GLAp.Ala143ThrVAR_012389
85GLAp.Ser148AsnVAR_012390
86GLAp.Ser148ArgVAR_012391
87GLAp.Trp162CysVAR_012392
88GLAp.Gly163ValVAR_012393
89GLAp.Asp170ValVAR_012394
90GLAp.Cys172ArgVAR_012395
91GLAp.Gly183AspVAR_012396
92GLAp.Met187ValVAR_012397
93GLAp.Cys202TyrVAR_012398
94GLAp.Tyr216AspVAR_012400
95GLAp.Cys223GlyVAR_012401
96GLAp.Asn224SerVAR_012402
97GLAp.Trp226ArgVAR_012403
98GLAp.Ala230ThrVAR_012404
99GLAp.Ser235CysVAR_012405
100GLAp.Trp236CysVAR_012406
101GLAp.Trp236LeuVAR_012407
102GLAp.Ile242AsnVAR_012408
103GLAp.Asp244HisVAR_012409
104GLAp.Gly258ArgVAR_012410
105GLAp.Pro259LeuVAR_012411
106GLAp.Pro259ArgVAR_012412
107GLAp.Gly260AlaVAR_012413
108GLAp.Gly261AspVAR_012414
109GLAp.Asn263SerVAR_012415
110GLAp.Pro265ArgVAR_012416
111GLAp.Asp266AsnVAR_012418
112GLAp.Met267IleVAR_012419
113GLAp.Gln279HisVAR_012420
114GLAp.Gln280HisVAR_012421
115GLAp.Trp287CysVAR_012422
116GLAp.Trp287GlyVAR_012423
117GLAp.Ile289PheVAR_012424
118GLAp.Met296IleVAR_012425
119GLAp.Asn298HisVAR_012426
120GLAp.Asn298SerVAR_012427
121GLAp.Asn320LysVAR_012430
122GLAp.Asn320TyrVAR_012431
123GLAp.Gln321GluVAR_012432
124GLAp.Trp340ArgVAR_012433
125GLAp.Glu341LysVAR_012434
126GLAp.Arg363HisVAR_012435
127GLAp.Gly373AspVAR_012436
128GLAp.Gly373SerVAR_012437
129GLAp.Ala377AspVAR_012438
130GLAp.Cys378TyrVAR_012439
131GLAp.Pro409AlaVAR_012440
132GLAp.Pro409ThrVAR_012441
133GLAp.Ser65ThrVAR_032290
134GLAp.Asp266HisVAR_032291
135GLAp.Asn272SerVAR_032292rs28935495
136GLAp.Thr410AlaVAR_032293
137GLAp.Met42LeuVAR_062551
138GLAp.Gly43ArgVAR_062552
139GLAp.His46ProVAR_062553
140GLAp.Asp93AsnVAR_062554
141GLAp.Arg112SerVAR_062555
142GLAp.Leu120ValVAR_062556
143GLAp.Ala135ValVAR_062557
144GLAp.Gly171AspVAR_062558
145GLAp.Ser201PheVAR_062559
146GLAp.Ile219ThrVAR_062560
147GLAp.Asp234GluVAR_062561
148GLAp.Asp264TyrVAR_062562
149GLAp.Ser276GlyVAR_062563
150GLAp.Ala285ProVAR_062564
151GLAp.Leu300PheVAR_062565
152GLAp.Gly328ValVAR_062566
153GLAp.Glu338LysVAR_062567
154GLAp.Arg356GlnVAR_062568
155GLAp.Glu358AlaVAR_062569
156GLAp.Gly360CysVAR_062570
157GLAp.Leu414SerVAR_062571

Clinvar genetic disease variations for Fabry Disease:

5 (show all 122)
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.196G> C (p.Glu66Gln)single nucleotide variantPathogenicrs104894833GRCh37Chr X, 100658972: 100658972
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 variantPathogenicrs104894845GRCh37Chr 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.196G> C (p.Glu66Gln)single nucleotide variantPathogenicrs104894833GRCh37Chr X, 100658972: 100658972
61NM_000169.2(GLA): c.1024C> G (p.Arg342Gly)single nucleotide variantLikely pathogenicrs104894843GRCh37Chr X, 100653063: 100653063
62NM_000169.2(GLA): c.1023A> C (p.Glu341Asp)single nucleotide variantPathogenicrs797044497GRCh37Chr X, 100653064: 100653064
63NM_000169.2(GLA): c.802-3_802-2deldeletionPathogenicrs797044498GRCh37Chr X, 100653557: 100653558
64NM_000169.2(GLA): c.802-2A> Gsingle nucleotide variantPathogenicrs797044499GRCh37Chr X, 100653557: 100653557
65NM_000169.2(GLA): c.730G> A (p.Asp244Asn)single nucleotide variantPathogenicrs727503948GRCh37Chr X, 100653844: 100653844
66NM_000169.2(GLA): c.658C> T (p.Arg220Ter)single nucleotide variantPathogenicrs727503949GRCh37Chr X, 100653916: 100653916
67NM_000169.2(GLA): c.593T> C (p.Ile198Thr)single nucleotide variantLikely pathogenic, drug responsers727503950GRCh37Chr X, 100655700: 100655700
68NM_000169.2(GLA): c.128delG (p.Gly43Alafs)deletionPathogenicrs797044500GRCh37Chr X, 100662764: 100662764
69NM_000169.2(GLA): c.1117G> A (p.Gly373Ser)single nucleotide variantLikely pathogenicrs727504348GRCh37Chr X, 100652970: 100652970
70NM_000169.2(GLA): c.802-3_804delinsGGCAACTTTindelLikely pathogenicrs727504773GRCh37Chr X, 100653553: 100653558
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 variantPathogenicrs797044747GRCh38Chr X, 101398925: 101398925
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.352C> T (p.Arg118Cys)single nucleotide variantLikely pathogenicrs148158093GRCh37Chr X, 100658816: 100658816
90NM_000169.2(GLA): c.613C> A (p.Pro205Thr)single nucleotide variantLikely pathogenic, Pathogenicrs397515870GRCh37Chr X, 100655680: 100655680
91NM_000169.2(GLA): c.724A> T (p.Ile242Phe)single nucleotide variantLikely pathogenicrs397515873GRCh37Chr X, 100653850: 100653850
92NM_000169.2(GLA): c.1019_1020insA (p.Trp340Terfs)insertionPathogenicrs398123197GRCh37Chr X, 100653067: 100653068
93NM_000169.2(GLA): c.1033_1034delTC (p.Ser345Argfs)deletionPathogenicrs398123198GRCh37Chr X, 100653053: 100653054
94NM_000169.2(GLA): c.119C> G (p.Pro40Arg)single nucleotide variantLikely pathogenicrs398123199GRCh37Chr X, 100662773: 100662773
95NM_000169.2(GLA): c.125T> C (p.Met42Thr)single nucleotide variantLikely pathogenicrs398123201GRCh37Chr X, 100662767: 100662767
96NM_000169.2(GLA): c.137A> T (p.His46Leu)single nucleotide variantPathogenicrs398123203GRCh37Chr X, 100662755: 100662755
97NM_000169.2(GLA): c.146G> C (p.Arg49Pro)single nucleotide variantLikely pathogenicrs398123205GRCh37Chr X, 100662746: 100662746
98NM_000169.2(GLA): c.195-1G> Csingle nucleotide variantPathogenicrs398123206GRCh37Chr X, 100658974: 100658974
99NM_000169.2(GLA): c.19G> T (p.Glu7Ter)single nucleotide variantPathogenicrs398123207GRCh37Chr X, 100662873: 100662873
100NM_000169.2(GLA): c.242G> A (p.Trp81Ter)single nucleotide variantPathogenicrs398123208GRCh37Chr X, 100658926: 100658926
101NM_000169.2(GLA): c.281G> A (p.Cys94Tyr)single nucleotide variantPathogenicrs113173389GRCh37Chr X, 100658887: 100658887
102NM_000169.2(GLA): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs104894834GRCh37Chr X, 100658834: 100658834
103NM_000169.2(GLA): c.335G> T (p.Arg112Leu)single nucleotide variantLikely pathogenicrs372966991GRCh37Chr X, 100658833: 100658833
104NM_000169.2(GLA): c.509A> G (p.Asp170Gly)single nucleotide variantPathogenicrs398123210GRCh37Chr X, 100656658: 100656658
105NM_000169.2(GLA): c.548-2A> Gsingle nucleotide variantPathogenicrs398123211GRCh37Chr X, 100655747: 100655747
106NM_000169.2(GLA): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs398123212GRCh37Chr X, 100655745: 100655745
107NM_000169.2(GLA): c.630delC (p.Gln212Lysfs)deletionPathogenicrs398123214GRCh37Chr X, 100655663: 100655663
108NM_000169.2(GLA): c.640-1G> Tsingle nucleotide variantPathogenicrs398123216GRCh37Chr X, 100653935: 100653935
109NM_000169.2(GLA): c.647A> G (p.Tyr216Cys)single nucleotide variantPathogenicrs398123217GRCh37Chr X, 100653927: 100653927
110NM_000169.2(GLA): c.662_663delAG (p.Gln221Leufs)deletionPathogenicrs398123218GRCh37Chr X, 100653911: 100653912
111NM_000169.2(GLA): c.677G> A (p.Trp226Ter)single nucleotide variantPathogenicrs398123219GRCh37Chr X, 100653897: 100653897
112NM_000169.2(GLA): c.734G> A (p.Trp245Ter)single nucleotide variantPathogenicrs398123220GRCh37Chr X, 100653840: 100653840
113NM_000169.2(GLA): c.748C> T (p.Gln250Ter)single nucleotide variantPathogenicrs398123221GRCh37Chr X, 100653826: 100653826
114NM_000169.2(GLA): c.823C> T (p.Leu275Phe)single nucleotide variantLikely pathogenicrs398123222GRCh37Chr X, 100653534: 100653534
115NM_000169.2(GLA): c.865A> T (p.Ile289Phe)single nucleotide variantPathogenicrs140329381GRCh37Chr X, 100653492: 100653492
116NM_000169.2(GLA): c.899T> C (p.Leu300Pro)single nucleotide variantPathogenicrs398123223GRCh37Chr X, 100653458: 100653458
117NM_000169.2(GLA): c.901C> T (p.Arg301Ter)single nucleotide variantPathogenicrs398123224GRCh37Chr X, 100653456: 100653456
118NM_000169.2(GLA): c.959_962delATCA (p.Asn320Argfs)deletionPathogenicrs398123225GRCh37Chr X, 100653395: 100653398
119NM_000169.2(GLA): c.966C> G (p.Asp322Glu)single nucleotide variantPathogenicrs398123226GRCh37Chr X, 100653391: 100653391
120NM_000169.2(GLA): c.973G> A (p.Gly325Ser)single nucleotide variantLikely pathogenicrs398123227GRCh37Chr X, 100653384: 100653384
121NM_000169.2(GLA): c.974G> A (p.Gly325Asp)single nucleotide variantPathogenicrs398123228GRCh37Chr X, 100653383: 100653383
122NM_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 pathways (with members indented)ScoreTop Affiliating Genes
19.7A4GALT, GLA, NAGA
29.2ICAM1, NOS3
39.0FUCA1, 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
1lysosomal lumenGO:004320210.0FUCA1, GLA, PSAP
2lysosomeGO:00057648.4CST3, FUCA1, GLA, LAMP2, NAGA, PSAP
3extracellular exosomeGO:00700626.4A4GALT, CST3, DDC, FUCA1, GLA, ICAM1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:004647710.4GLA, NAGA
2oligosaccharide metabolic processGO:000931110.4GLA, NAGA
3glycoside catabolic processGO:001613910.1FUCA1, GLA, NAGA
4glycosphingolipid metabolic processGO:00066879.8GLA, PSAP
5negative regulation of calcium ion transportGO:00519269.7ICAM1, NOS3
6negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.6ICAM1, NOS3
7heterophilic cell-cell adhesion via plasma membrane cell adhesion moleculesGO:00071579.5ICAM1, UMOD
8leukocyte cell-cell adhesionGO:00071599.3ICAM1, UMOD
9cellular response to organic substanceGO:00713109.1ICAM1, PSAP
10cellular response to alkaloidGO:00713129.0DDC, ICAM1

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

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:000455710.0GLA, NAGA
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:000455310.0GLA, NAGA

Sources for Fabry Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet