GM2G1
MCID: TYS001
MIFTS: 71

Tay-Sachs Disease (GM2G1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Tay-Sachs Disease

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Aliases & Descriptions for Tay-Sachs Disease:

Name: Tay-Sachs Disease 52 35 11 71 48 24 25 49 54 70 50 38 39 13 68
Hexosaminidase a Deficiency 11 23 48 24 25 54 70
Tsd 48 24 25 70
Hexosaminidase Alpha-Subunit Deficiency 48 25 68
Gm2 Gangliosidosis 23 24 50
Hexa Deficiency 48 25 70
Gm2-Gangliosidosis, Several Forms 52 12
B Variant Gm2 Gangliosidosis 48 25
Sphingolipidosis, Tay-Sachs 48 25
Gm2 Gangliosidosis, Type 1 48 25
Disease, Tay-Sachs 11 27
Hex a Deficiency 23 24
 
Tay-Sachs Disease Pseudo-Ab Variant 70
Acute Infantile Gm2 Gangliosidosis 24
Type 1 Hexosaminidase a-Deficiency 24
Gm2 Gangliosidosis, B, B1 Variant 54
Tay-Sachs Disease Variant B1 70
Gm2-Gangliosidosis B Variant 70
Gangliosidosis Gm2 , Type 1 48
Type I Gm2 Gangliosidosis 24
Gm2-Gangliosidosis 1 70
Gangliosidoses, Gm2 68
Gm2g1 70

Characteristics:

Orphanet epidemiological data:

54
tay-sachs disease:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/1000000 (Europe),1-9/100000 (Portugal),1-9/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Worldwide),1-9/1000000 (Netherlands),1-9/1000000 (Canada),1-9/1000000 (United Arab Emirates),1-9/1000000 (Turkey),1-9/1000000 (Sweden); Age of onset: All ages; Age of death: any age

HPO:

64
tay-sachs disease:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 272800
Disease Ontology11 DOID:3320
ICD1030 E75.02, E75.0
MeSH39 D013661
NCIt45 C85184
SNOMED-CT62 111385000
Orphanet54 ORPHA845
ICD10 via Orphanet31 E75.0
UMLS via Orphanet69 C0039373, C1848922
MESH via Orphanet40 D013661

Summaries for Tay-Sachs Disease

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NINDS:49 Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GMgangliosidoses.  Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A.  Affected children appear to develop normally until about age 6 months.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.

MalaCards based summary: Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to sandhoff disease, infantile, juvenile, and adult forms and tay-sachs disease, b1 variant, and has symptoms including back pain, back pain and headache. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways are Globo Sphingolipid Metabolism and Glycosphingolipid biosynthesis - ganglio series. Affiliated tissues include brain, testes and spinal cord, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Genetics Home Reference:25 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases:48 Tay-sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. tay-sachs is caused by the absence of a vital enzyme called hexosaminidase-a (hex-a). without hex-a, a fatty substance, or lipid, called gm2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. this ongoing accumulation causes progressive damage to the cells. tay-sachs disease is inherited in an autosomal recessive pattern.  last updated: 1/14/2016

OMIM:52 Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile... (272800) more...

MedlinePlus:38 Tay-sachs disease is a rare, inherited disease. it is a type of lipid metabolism disorder. it causes too much of a fatty substance to build up in the brain. this buildup destroys nerve cells, causing mental and physical problems. . infants with tay-sachs disease appear to develop normally for the first few months of life. then mental and physical abilities decline. the child becomes blind, deaf, and unable to swallow. muscles begin to waste away and paralysis sets in. even with the best of care, children with tay-sachs disease usually die by age 4. the cause is a gene mutation which is most common in eastern european ashkenazi jews. to get the disease, both parents must have the gene. if they do, there is a 25% chance of the child having the disease. a blood test and prenatal tests can check for the gene or the disease. there is no cure. medicines and good nutrition can help some symptoms. some children need feeding tubes. nih: national institute of neurological disorders and stroke

UniProtKB/Swiss-Prot:70 GM2-gangliosidosis 1: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).

Wikipedia:71 Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare... more...

GeneReviews for NBK1218

Related Diseases for Tay-Sachs Disease

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Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease, B Variant, Juvenile Form Tay-Sachs Disease, B Variant, Infantile Form
Tay-Sachs Disease, B1 Variant Tay-Sachs Disease, B Variant, Adult Form

Diseases related to Tay-Sachs Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1sandhoff disease, infantile, juvenile, and adult forms31.9HEXA, SMN1
2tay-sachs disease, b1 variant12.3
3gm2 gangliosidosis, 0 variant12.2
4tay-sachs disease, b variant, juvenile form12.2
5tay-sachs disease, b variant, infantile form12.2
6tay-sachs disease, b variant, adult form12.2
7gm2-gangliosidosis, ab variant12.1
8juvenile hexosaminidase a deficiency12.1
9chronic and adult-onset hexosaminidase a deficiency12.0
10gm1-gangliosidosis, type i11.1
11lipid metabolism disorder11.1
12floppy infant syndrome11.1
13hypotonia11.1
14infantile hypotonia11.1
15cystic fibrosis10.4
16cerebritis10.3
17neuronitis10.3
18metachromatic leukodystrophy10.2
19thalassemia10.2
20leukodystrophy10.2
21diffuse large b-cell lymphoma of the central nervous system10.2ARSA, PSAP
22follicular cholangitis and pancreatitis10.2ARSA, PSAP
23primary cutaneous anaplastic large cell lymphoma10.2ARSA, PSAP
24seizures, benign familial infantile, 110.1CTSA, HEXA
25sickle cell disease10.1
26nephronophthisis10.1CTSA, VIM
27fucosidosis10.1CTSA, HEXA
28gaucher disease, type ii10.1ARSA, HEXA, PSAP
29mitochondrial dna depletion syndrome 110.1ARSA, HEXA, PSAP
30partial motor epilepsy10.1HEXA, NEU1, PSAP
31hypothalamic disease10.1ARSA, HEXA, PSAP
32leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism10.1GM2A, NEU1, PSAP
33hypertelorism, preauricular sinus, punctal pits, and deafness10.1ARSA, PSAP
34megakaryocytic leukemia10.1CTSA, HEXA
35myasthenia gravis10.1CTSA, NEU1
36severe combined immunodeficiency due to ada deficiency10.1CTSA, NEU1
37myopia 23, autosomal recessive10.1CTSA, HEXA
38shigellosis10.0HEXA, SMN1
39bipolar ll disorder10.0HEXA, SMN1
40spina bifida occulta10.0ARSA, CTSA, PSAP
41hyperinsulinemic hypoglycemia, familial, 410.0CTSA, HEXA
42mononeuritis of lower limb10.0ARSA, HEXA, HEXB, PSAP
43malignant fibrous histiocytoma of bone10.0CTSA, NEU1, PSAP
44nasopharyngeal carcinoma 210.0CTSA, NEU1, PSAP
45schizophrenia10.0
46friedreich ataxia10.0
47fructose intolerance10.0
48phenylketonuria10.0
49pick disease10.0
50prader-willi syndrome10.0

Graphical network of the top 20 diseases related to Tay-Sachs Disease:



Diseases related to tay-sachs disease

Symptoms & Phenotypes for Tay-Sachs Disease

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Symptoms by clinical synopsis from OMIM:

272800

Clinical features from OMIM:

272800

Human phenotypes related to Tay-Sachs Disease:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Very frequent (99-80%) HP:0000256
2 hearing impairment64 54 Very frequent (99-80%) HP:0000365
3 visual impairment54 Very frequent (99-80%)
4 blindness64 54 Very frequent (99-80%) HP:0000618
5 optic atrophy64 54 Frequent (79-30%) HP:0000648
6 seizures64 54 Very frequent (99-80%) HP:0001250
7 ataxia64 54 Very frequent (99-80%) HP:0001251
8 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
9 spasticity64 54 Frequent (79-30%) HP:0001257
10 global developmental delay64 54 Very frequent (99-80%) HP:0001263
11 hyperreflexia64 54 Very frequent (99-80%) HP:0001347
12 splenomegaly64 54 Frequent (79-30%) HP:0001744
13 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
14 hepatomegaly64 54 Frequent (79-30%) HP:0002240
15 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
16 psychomotor deterioration64 54 Very frequent (99-80%) HP:0002361
17 developmental regression64 54 Very frequent (99-80%) HP:0002376
18 myotonia64 54 Frequent (79-30%) HP:0002486
19 hemiplegia/hemiparesis64 54 Very frequent (99-80%) HP:0004374
20 intellectual disability, progressive64 54 Very frequent (99-80%) HP:0006887
21 increased muscle lipid content64 54 Very frequent (99-80%) HP:0009058
22 cherry red spot of the macula64 54 Very frequent (99-80%) HP:0010729
23 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
24 dementia64 HP:0000726
25 apathy64 HP:0000741
26 exaggerated startle response64 HP:0002267
27 poor head control64 HP:0002421
28 aspiration64 HP:0002835
29 gm2-ganglioside accumulation64 HP:0003495

UMLS symptoms related to Tay-Sachs Disease:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5CTSA, HEXA, HEXB, NEU1, PSAP
2MP:00053709.0CTSA, HEXA, HEXB, HHEX, NEU1, PSAP
3MP:00053888.6CTSA, HHEX, MGEA5, NEU1, PSAP, VIM
4MP:00053978.6ARSA, CTSA, HEXB, HHEX, NEU1, PSAP
5MP:00036318.5ARSA, GM2A, HEXA, HEXB, HHEX, NEU1
6MP:00053868.5ARSA, CTSA, GM2A, HEXA, HEXB, NEU1
7MP:00053918.3HEXA, HEXB, HHEX, NEU1, PSAP, VIM

Drugs & Therapeutics for Tay-Sachs Disease

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Drugs for Tay-Sachs Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 51)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 4, Phase 3, Phase 22172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
2
1-DeoxynojirimycinexperimentalPhase 4, Phase 3, Phase 22619130-96-21374
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
3Hypoglycemic AgentsPhase 4, Phase 3, Phase 25896
4Anti-HIV AgentsPhase 4, Phase 3, Phase 23162
5Cardiac GlycosidesPhase 4, Phase 3, Phase 2148
6Glycoside Hydrolase InhibitorsPhase 4, Phase 3, Phase 2128
7Anti-Retroviral AgentsPhase 4, Phase 3, Phase 23296
8Anti-Infective AgentsPhase 4, Phase 3, Phase 1, Phase 222062
9Antiviral AgentsPhase 4, Phase 3, Phase 29967
10
Cyclophosphamideapproved, investigationalPhase 2, Phase 3293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
11
Prednisoloneapproved, vet_approvedPhase 2, Phase 3119350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
12
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3119383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
13
Busulfanapproved, investigationalPhase 2, Phase 354555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
14Methylprednisolone acetatePhase 2, Phase 31193
15Prednisolone phosphatePhase 2, Phase 31193
16Prednisolone hemisuccinatePhase 2, Phase 31193
17Prednisolone acetatePhase 2, Phase 31193
18Methylprednisolone HemisuccinatePhase 2, Phase 31193
19Alkylating AgentsPhase 2, Phase 34827
20Antineoplastic Agents, AlkylatingPhase 2, Phase 34603
21Antilymphocyte SerumPhase 2, Phase 3408
22Immunosuppressive AgentsPhase 2, Phase 313086
23Antirheumatic AgentsPhase 2, Phase 310956
24
MelphalanapprovedPhase 2729148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
25
Pyrimethamineapproved, vet_approvedPhase 1, Phase 215758-14-04993
Synonyms:
2,4-Diamino-5-(4-chlorophenyl)-6-ethylpyrimidine
2,4-Diamino-5-(P-chlorophenyl)-6-ethylpyrimidine
2,4-Diamino-5-(p-chlorophenyl)-6-ethylpyrimidine
2,4-Diamino-5-chlorophenyl-6-ethylpyrimidine
46706_FLUKA
46706_RIEDEL
4753 R.P.
4753 r.p
5-(4'-Chlorophenyl)-2,4-diamino-6-ethylpyrimidine
5-(4-CHLORO-PHENYL)-6-ETHYL-PYRIMIDINE-2,4-DIAMINE
5-(4-CHLOROPHENYL)-6-ETHYL-2,4-PYRIMIDINEDIAMINE
5-(4-Chlorophenyl)-6-ethyl-2,4-diaminopyrimidine
5-(4-Chlorophenyl)-6-ethyl-2,4-pyrimidi nediamine
5-(4-Chlorophenyl)-6-ethyl-2,4-pyrimidinediamine
5-(4-chlorophenyl)-2,4-diamino-6-ethylpyrimidine
5-(4-chlorophenyl)-6-ethylpyrimidine-2,4-diamine
5-(p-chlorophenyl)-6-ethyl-2,4-diaminopyrimidine
5-[4-Chlorophenyl]-6-ethyl-2,4-pyrimidinediamine
58-14-0
AB00052084
AC-7879
AC1L1JDI
AI3-25005
AZT + Pyrimethamine combination
Aventis Brand of Pyrimethamine
BIDD:GT0149
BIDD:PXR0173
BPBio1_000147
BRD-K88429204-001-05-4
BRN 0219864
BSPBio_000133
BSPBio_003282
BW 50-63
BW 5063
C07391
C12H13ClN4
CAS-58-14-0
CCRIS 546
CD
CHEBI:8673
CHEMBL36
CID4993
CP6
CPD000058714
CRL-8131 & Pyrimethamine
CRL-8142 & Pyrimethamine
Chloridin
Chloridine
Chloridyn
D00488
D011739
DB00205
Darachlor
Daraclor
Darapram
Daraprim
Daraprim (TN)
Daraprime
Daraprin
Diaminopyritamin
Disulone
DivK1c_000652
EINECS 200-364-2
EXR-101
Erbaprelina
Ethylpyrimidine
Fansidar
Fansidar (Pyrimethamine/Sulfadoxine)
Glaxo Wellcome Brand of Pyrimethamine
GlaxoSmithKline Brand of Pyrimethamine
HMS1568G15
HMS1920N12
HMS2092E13
HMS502A14
IDI1_000652
KBio1_000652
KBio2_001386
KBio2_003954
 
KBio2_006522
KBio3_002502
KBioGR_001007
KBioSS_001386
Khloridin
L000713
LS-238
Lactoferrin B & Pyrimethamine
Lactoferrin H & Pyrimethamine
MCB-3837
MLS000028606
MLS001148621
MLS002454446
MLS002701881
Malacid
Malocid
Malocide
Maloprim
MolPort-001-783-655
NCGC00016256-01
NCGC00016256-02
NCGC00023188-03
NCGC00023188-04
NCGC00023188-05
NCGC00023188-06
NCGC00023188-07
NCI-C01683
NCI60_002604
NCIOpen2_008313
NINDS_000652
NSC 3061
NSC-3061
NSC3061
Oxaquin
Pirimecidan
Pirimetamin
Pirimetamina
Pirimetamina [INN-Spanish]
Pirimetamina [Spanish]
Prestwick0_000037
Prestwick1_000037
Prestwick2_000037
Prestwick3_000037
Prestwick_504
Primethamine
Pyremethamine
Pyrimethamin
Pyrimethamine (JAN/USP/INN)
Pyrimethamine (Pyr)
Pyrimethamine Hcl
Pyrimethamine [USAN:INN:BAN:JAN]
Pyrimethaminum
Pyrimethaminum [INN-Latin]
RP 4753
S2006_Selleck
SAM002554921
SMR000058714
SPBio_000672
SPBio_002054
SPECTRUM1500520
Spectrum2_000886
Spectrum3_001701
Spectrum4_000494
Spectrum5_001447
Spectrum_000906
TCMDC-123831
TCMDC-125860
Tindurin
Tindurine
Tinduring
UNII-Z3614QOX8W
WLN: T6N CNJ BZ DZ ER DG& F2
WR 2978
Wellcome Brand of Pyrimethamine
ZINC00057464
m alocid
nchembio.215-comp13
nchembio.87-comp22
pyrimethamine
26
BenzocaineapprovedPhase 220161994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
27
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
28
Cyclosporineapproved, investigational, vet_approvedPhase 292279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
29
Clofarabineapproved, investigationalPhase 2159123318-82-1119182
Synonyms:
(2R,3R,4S,5R)-5-(6-amino-2-Chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
(2R,3R,4S,5R)-5-(6-amino-2-chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
123318-82-1
2-Chloro-9-(2-deoxy-2-fluoro-b-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
2-Cl-2'-F-araA
2-chloro-9-(2'-Deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2'-deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2-Deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
3S211048
AC-274
AC1L3OC8
AKOS005063562
Bio-0121
C1-F-Ara-A
CAFdA
CFB
CHEBI:681569
CHEMBL1750
CID119182
CL-F-Ara-a
 
Cl-F-Ara-A
Clofarabin
Clofarabina
Clofarabine
Clofarabine (USAN/INN)
Clofarabine [USAN]
Clofarabinum
Clofarex
Clolar
Clolar (TN)
Clolar, Evoltra, Clofarabine
D03546
DB00631
DB07554
Evoltra
FT-0082882
HMS2090A07
LS-126466
MolPort-005-941-711
S1218_Selleck
UNII-762RDY0Y2H
ZINC03798247
clofarabina
clofarabinum
30
HydroxyureaapprovedPhase 2223127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
31
Miconazoleapproved, investigational, vet_approvedPhase 2370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
32
Folic Acidapproved, nutraceutical, vet_approvedPhase 1, Phase 2439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
33tannic acidapproved, NutraceuticalPhase 22016
34
leucovorinapproved, NutraceuticalPhase 1, Phase 2323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
35Calcineurin InhibitorsPhase 21622
36Nucleic Acid Synthesis InhibitorsPhase 24962
37Dermatologic AgentsPhase 25806
38Antiprotozoal AgentsPhase 1, Phase 22051
39Folic Acid AntagonistsPhase 1, Phase 22257
40Antimetabolites, AntineoplasticPhase 27361
41Vitamin B ComplexPhase 1, Phase 24337
42AntimalarialsPhase 1, Phase 21246
43AntimetabolitesPhase 212054
44Antifungal AgentsPhase 23696
45Antiparasitic AgentsPhase 1, Phase 22199
46FolateNutraceuticalPhase 1, Phase 24392
47Vitamin B9NutraceuticalPhase 1, Phase 24392
48
Mycophenolic acidapproved95224280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
49
Mycophenolate mofetilapproved, investigational952128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
50Antibiotics, Antitubercular7180

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Synergistic Enteral Regimen for Treatment of the GangliosidosesRecruitingNCT02030015Phase 4
2Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesCompletedNCT00672022Phase 3
3Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
4ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
5Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)CompletedNCT01102686Phase 1, Phase 2
6Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisCompletedNCT00418847Phase 2
7HSCT for High Risk Inherited Inborn ErrorsCompletedNCT00383448Phase 2
8Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
9Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood CellsCompletedNCT00692926Phase 1
10UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 1
11A Phase I Study of Pyrimethamine in Patients With GM2 GangliosidosisWithdrawnNCT00679744Phase 1
12Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage DiseasesWithdrawnNCT01003912Phase 1
13Gene Therapy for Tay-Sachs DiseaseCompletedNCT01869270
14Diagnostic and Screening Study of Genetic DisordersCompletedNCT00006057
15Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersCompletedNCT01626092
16Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)CompletedNCT01023048
17Clinical Use of Parental Support To Detect Single Gene MutationsCompletedNCT01197872
18A Natural History of Late Onset Tay-Sachs DiseaseRecruitingNCT02851862
19A Natural History Study of the GangliosidosesRecruitingNCT00668187
20Biomarker for GM1/GM2 - GangliosidosesRecruitingNCT02298647
21Nervous System Degeneration in Glycosphingolipid Storage DisordersRecruitingNCT00029965
22Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.Active, not recruitingNCT01999257

Search NIH Clinical Center for Tay-Sachs Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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Genetic Tests for Tay-Sachs Disease

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Genetic tests related to Tay-Sachs Disease:

id Genetic test Affiliating Genes
1 Tay-Sachs Disease27 24 HEXA
2 Hexosaminidase a Deficiency24 HEXA

Anatomical Context for Tay-Sachs Disease

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MalaCards organs/tissues related to Tay-Sachs Disease:

36
Brain, Testes, Spinal cord, Eye, Bone, Retina, Kidney

Publications for Tay-Sachs Disease

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Articles related to Tay-Sachs Disease:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population. (28503624)
2017
2
Tay-Sachs disease mutations in HEXA target the I+ chain of hexosaminidase A to endoplasmic reticulum-associated degradation. (27682588)
2016
3
Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy. (27351546)
2016
4
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. (27033294)
2016
5
CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease. (27841233)
2016
6
NOVEL VECTOR DESIGN AND HEXOSAMINIDASE VARIANT ENABLING SELF-COMPLEMENTARY AAV FOR THE TREATMENT OF TAY-SACHS DISEASE. (27197548)
2016
7
Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. (27879213)
2016
8
Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease. (26874567)
2016
9
Thalamic T2 hypointensity: a diagnostic clue for Tay-Sachs disease. (26338066)
2015
10
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. (26264938)
2015
11
Zygosity Diagnosis: When Physicians and DNA Disagree/Twin Research: Sex-Discordant Chimeric Twins; Unrelated Bone Marrow Transplantation in Infant Twins With Congenital Amegakaryotic Thrombocytopenia; Twin Study of Attractiveness to Mosquitoes; Twins Coping With Crisis/Media Highlights: The Less Favored Twin; Paternity Issues; Twins With Late-Onset Tay-Sachs Disease; Triplets at MIT. (26323370)
2015
12
Mortality incidence estimation using federal death certificate and natality data with an application to Tay-Sachs disease. (26080753)
2015
13
Tay-Sachs disease: current perspectives from Australia. (25653550)
2015
14
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. (25860343)
2015
15
Three novel mutations in Iranian patients with Tay-Sachs disease. (24518553)
2014
16
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). (25143775)
2014
17
Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience. (24923490)
2014
18
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. (25287655)
2014
19
The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. (25606403)
2014
20
Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease. (24534057)
2014
21
Fundus autofluorescence in Tay-Sachs disease. (24852271)
2014
22
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. (27896118)
2014
23
Choroidal coloboma in a case of tay-sachs disease. (25295204)
2014
24
High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up. (23893770)
2013
25
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. (23266199)
2013
26
Atypical presentation of Late-Onset Tay-Sachs Disease. (24327357)
2013
27
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation. (22441121)
2012
28
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. (23230938)
2012
29
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. (22723944)
2012
30
Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421a88+a881Ga88>a88C mutation in individuals with South African heritage. (22109873)
2011
31
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. (21796138)
2011
32
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. (21967858)
2011
33
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. (22205997)
2011
34
Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia. (19864874)
2010
35
Tay-Sachs disease in Jacob sheep. (20817517)
2010
36
Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease. (19278800)
2010
37
Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. (19240988)
2009
38
Late-onset Tay-Sachs disease presenting as a childhood stutter. (19091716)
2009
39
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease. (19644708)
2009
40
Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. (19346952)
2009
41
'Cherry red spot' in a patient with Tay-Sachs disease: case report. (19820796)
2009
42
Spontaneous appearance of Tay-Sachs disease in an animal model. (18693054)
2008
43
Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease. (19294598)
2008
44
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease. (18425478)
2008
45
Structural consequences of amino acid substitutions causing Tay-Sachs disease. (18490185)
2008
46
Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. (18642377)
2008
47
Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. (18618288)
2008
48
Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease. (18718355)
2008
49
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. (17259242)
2007
50
Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population. (17990595)
2007

Variations for Tay-Sachs Disease

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UniProtKB/Swiss-Prot genetic disease variations for Tay-Sachs Disease:

70 (show all 49)
id Symbol AA change Variation ID SNP ID
1HEXAp.Pro25SerVAR_003202
2HEXAp.Leu39ArgVAR_003203rs121907979
3HEXAp.Leu127ArgVAR_003204rs121907975
4HEXAp.Arg166GlyVAR_003205
5HEXAp.Arg170GlnVAR_003206rs121907957
6HEXAp.Arg170TrpVAR_003207rs121907972
7HEXAp.Arg178CysVAR_003208rs121907953
8HEXAp.Arg178HisVAR_003209rs28941770
9HEXAp.Arg178LeuVAR_003210rs28941770
10HEXAp.Tyr180HisVAR_003211rs28941771
11HEXAp.Val192LeuVAR_003212rs387906310
12HEXAp.Asn196SerVAR_003213rs753862880
13HEXAp.Lys197ThrVAR_003214rs121907973
14HEXAp.Val200MetVAR_003215rs1800429
15HEXAp.His204ArgVAR_003216rs121907976
16HEXAp.Ser210PheVAR_003217rs121907961
17HEXAp.Phe211SerVAR_003218rs121907974
18HEXAp.Gly250AspVAR_003221rs121907959
19HEXAp.Gly250SerVAR_003222
20HEXAp.Arg252HisVAR_003223rs762255098
21HEXAp.Asp258HisVAR_003224rs121907971
22HEXAp.Gly269SerVAR_003225rs121907954
23HEXAp.Ser279ProVAR_003226
24HEXAp.Met301ArgVAR_003227rs121907977
25HEXAp.Ile335PheVAR_003230
26HEXAp.Val391MetVAR_003232
27HEXAp.Trp420CysVAR_003234rs121907958
28HEXAp.Gly454SerVAR_003236rs121907978
29HEXAp.Gly455ArgVAR_003237
30HEXAp.Cys458TyrVAR_003238
31HEXAp.Trp474CysVAR_003239rs121907981
32HEXAp.Glu482LysVAR_003240rs121907952
33HEXAp.Leu484GlnVAR_003241
34HEXAp.Trp485ArgVAR_003242rs121907968
35HEXAp.Arg499CysVAR_003243rs121907966
36HEXAp.Arg499HisVAR_003244rs121907956
37HEXAp.Arg504CysVAR_003245rs28942071
38HEXAp.Arg504HisVAR_003246rs121907955
39HEXAp.Arg252LeuVAR_017188
40HEXAp.Asn295SerVAR_017189rs199578185
41HEXAp.Leu127PheVAR_022439
42HEXAp.Ser226PheVAR_022440rs769866128
43HEXAp.Gly269AspVAR_022441
44HEXAp.Asp314ValVAR_022442
45HEXAp.Asp322AsnVAR_077498
46HEXAp.Asp322TyrVAR_077499rs772180415
47HEXAp.Arg393ProVAR_077500
48HEXAp.Glu462ValVAR_077501rs863225434
49HEXAp.Gly478ArgVAR_077502

Clinvar genetic disease variations for Tay-Sachs Disease:

5 (show all 96)
id Gene Variation Type Significance SNP ID Assembly Location
1GM2ANM_ 000405.4(GM2A): c.333delC (p.Cys112Valfs)deletionPathogenicrs587779405GRCh37Chr 5, 150646381: 150646381
2HEXANM_ 000520.5(HEXA): c.1305C> T (p.Tyr435=)SNVPathogenic/ Likely pathogenicrs587779406GRCh37Chr 15, 72638893: 72638893
3HEXANM_ 000520.5(HEXA): c.718_ 719insT (p.Lys240Ilefs)insertionPathogenicrs587779407GRCh37Chr 15, 72642945: 72642946
4HEXANM_ 000520.5(HEXA): c.915_ 917delCTT (p.Phe305del)deletionPathogenic/ Likely pathogenicrs121907960GRCh37Chr 15, 72641489: 72641491
5HEXANM_ 000520.5(HEXA): c.947dupA (p.Tyr316Terfs)duplicationLikely pathogenicrs786204515GRCh38Chr 15, 72349118: 72349118
6HEXANM_ 000520.5(HEXA): c.986+3A> GSNVLikely pathogenicrs200926928GRCh38Chr 15, 72349076: 72349076
7HEXANM_ 000520.5(HEXA): c.1528C> T (p.Arg510Ter)SNVPathogenic/ Likely pathogenicrs786204585GRCh37Chr 15, 72636480: 72636480
8HEXANM_ 000520.5(HEXA): c.1307_ 1308delTA (p.Ile436Serfs)deletionLikely pathogenicrs777042785GRCh37Chr 15, 72638890: 72638891
9HEXANM_ 000520.5(HEXA): c.2T> C (p.Met1Thr)SNVPathogenic/ Likely pathogenicrs786204721GRCh38Chr 15, 72375971: 72375971
10HEXANM_ 000520.5(HEXA): c.1123delG (p.Glu375Argfs)deletionLikely pathogenicrs766138785GRCh37Chr 15, 72640050: 72640050
11HEXANM_ 000520.5(HEXA): c.570+1G> ASNVLikely pathogenicrs786204754GRCh38Chr 15, 72353067: 72353067
12HEXANM_ 000520.5(HEXA): c.806-7G> ASNVPathogenicrs770932296GRCh37Chr 15, 72641607: 72641607
13HEXANM_ 000520.5(HEXA): c.1385A> T (p.Glu462Val)SNVPathogenicrs863225434GRCh38Chr 15, 72346271: 72346271
14HEXANM_ 000520.5(HEXA): c.340G> A (p.Glu114Lys)SNVPathogenicrs748190164GRCh37Chr 15, 72648872: 72648872
15HEXANM_ 000520.5(HEXA): c.1178G> C (p.Arg393Pro)SNVPathogenicrs370266293GRCh37Chr 15, 72639020: 72639020
16HEXANM_ 000520.5(HEXA): c.964G> A (p.Asp322Asn)SNVPathogenicrs772180415GRCh38Chr 15, 72349101: 72349101
17HEXANM_ 000520.5(HEXA): c.964G> T (p.Asp322Tyr)SNVPathogenic/ Likely pathogenicrs772180415GRCh38Chr 15, 72349101: 72349101
18HEXANM_ 000520.5(HEXA): c.173G> A (p.Cys58Tyr)SNVPathogenicrs387906949GRCh37Chr 15, 72668141: 72668141
19HEXANM_ 000520.5(HEXA): c.26C> A (p.Ser9Ter)SNVLikely pathogenicrs769370282GRCh38Chr 15, 72375947: 72375947
20HEXANM_ 000520.5(HEXA): c.1150C> T (p.Gln384Ter)SNVLikely pathogenicrs1057516617GRCh37Chr 15, 72639048: 72639048
21HEXANM_ 000520.5(HEXA): c.183_ 193delCGACGAGGCCT (p.Asp62Profs)deletionLikely pathogenicrs1057516640GRCh38Chr 15, 72375780: 72375790
22HEXANM_ 000520.5(HEXA): c.709C> T (p.Gln237Ter)SNVPathogenic/ Likely pathogenicrs150675340GRCh37Chr 15, 72642955: 72642955
23HEXANM_ 000520.5(HEXA): c.1043_ 1046delTCAA (p.Phe348Cysfs)deletionLikely pathogenicrs1057516755GRCh37Chr 15, 72640416: 72640419
24HEXANM_ 000520.5(HEXA): c.465delT (p.Phe155Leufs)deletionLikely pathogenicrs1057516850GRCh38Chr 15, 72353173: 72353173
25HEXANM_ 000520.5(HEXA): c.806-1G> CSNVLikely pathogenicrs1057516908GRCh38Chr 15, 72349260: 72349260
26HEXANM_ 000520.5(HEXA): c.196C> T (p.Gln66Ter)SNVLikely pathogenicrs1057516957GRCh37Chr 15, 72668118: 72668118
27HEXANM_ 000520.5(HEXA): c.1421G> A (p.Trp474Ter)SNVPathogenic/ Likely pathogenicrs762374961GRCh37Chr 15, 72638576: 72638576
28HEXANM_ 000520.5(HEXA): c.436delG (p.Val146Phefs)deletionLikely pathogenicrs1057517174GRCh37Chr 15, 72646055: 72646055
29HEXANM_ 000520.5(HEXA): c.60_ 61dupGA (p.Thr21Argfs)duplicationLikely pathogenicrs1057517296GRCh37Chr 15, 72668253: 72668254
30HEXANM_ 000520.5(HEXA): c.1330+1G> ASNVPathogenicrs767041069GRCh37Chr 15, 72638867: 72638867
31HEXANM_ 000520.5(HEXA): c.253+1G> ASNVLikely pathogenicrs770093080GRCh37Chr 15, 72668060: 72668060
32HEXANM_ 000520.5(HEXA): c.24_ 25delTT (p.Ser9Alafs)deletionLikely pathogenicrs1057517348GRCh37Chr 15, 72668289: 72668290
33HEXANM_ 000520.5(HEXA): c.82C> T (p.Gln28Ter)SNVLikely pathogenicrs751393950GRCh37Chr 15, 72668232: 72668232
34HEXANM_ 000520.5(HEXA): c.459+5G> ASNVPathogenic/ Likely pathogenicrs762060470GRCh38Chr 15, 72353686: 72353686
35HEXANM_ 000520.5(HEXA): c.316C> T (p.Gln106Ter)SNVPathogenicrs773446161GRCh38Chr 15, 72356555: 72356555
36HEXANM_ 000520.5(HEXA): c.426delT (p.Phe142Leufs)deletionPathogenicrs1057519458GRCh37Chr 15, 72646065: 72646065
37HEXANM_ 000520.5(HEXA): c.459+4A> CSNVPathogenicrs1057519459GRCh37Chr 15, 72646028: 72646028
38HEXANM_ 000520.5(HEXA): c.460-1G> ASNVLikely pathogenicrs764343937GRCh38Chr 15, 72353179: 72353179
39HEXANM_ 000520.5(HEXA): c.524A> C (p.Asp175Ala)SNVPathogenicrs1057519460GRCh38Chr 15, 72353114: 72353114
40HEXANM_ 000520.5(HEXA): c.616G> C (p.Val206Leu)SNVLikely pathogenicrs543071358GRCh38Chr 15, 72351189: 72351189
41HEXANM_ 000520.5(HEXA): c.637T> C (p.Tyr213His)SNVLikely pathogenicrs1057519461GRCh38Chr 15, 72351168: 72351168
42HEXANM_ 000520.5(HEXA): c.788C> T (p.Thr263Ile)SNVLikely pathogenicrs1057519462GRCh38Chr 15, 72350535: 72350535
43HEXANM_ 000520.5(HEXA): c.805G> C (p.Gly269Arg)SNVPathogenicrs121907954GRCh37Chr 15, 72642859: 72642859
44HEXANM_ 000520.5(HEXA): c.805+1G> CSNVPathogenicrs121907980GRCh37Chr 15, 72642858: 72642858
45HEXANM_ 000520.5(HEXA): c.898_ 905delTTCATGAG (p.Phe300Hisfs)deletionPathogenicrs1057519463GRCh38Chr 15, 72349160: 72349167
46HEXANM_ 000520.5(HEXA): c.1121A> C (p.Gln374Pro)SNVPathogenicrs1057519464GRCh37Chr 15, 72640052: 72640052
47HEXANM_ 000520.5(HEXA): c.1259G> A (p.Trp420Ter)SNVLikely pathogenicrs1057519465GRCh38Chr 15, 72346598: 72346598
48HEXANM_ 000520.5(HEXA): c.1349delC (p.Ala450Valfs)deletionLikely pathogenicrs1057519466GRCh37Chr 15, 72638648: 72638648
49HEXANM_ 000520.5(HEXA): c.1360G> C (p.Gly454Arg)SNVLikely pathogenicrs121907978GRCh37Chr 15, 72638637: 72638637
50HEXANM_ 000520.5(HEXA): c.1432G> A (p.Gly478Arg)SNVPathogenicrs1057519467GRCh38Chr 15, 72345540: 72345540
51HEXANM_ 000520.5(HEXA): c.1454G> A (p.Trp485Ter)SNVPathogenicrs1057519468GRCh38Chr 15, 72345518: 72345518
52HEXANM_ 000520.5(HEXA): c.1274_ 1277dupTATC (p.Tyr427Ilefs)duplicationPathogenicrs387906309GRCh37Chr 15, 72638921: 72638924
53HEXANM_ 000520.5(HEXA): c.1421+1G> CSNVPathogenicrs147324677GRCh37Chr 15, 72638575: 72638575
54HEXANM_ 000520.5(HEXA): c.-2564_ 253+5128delinsGindelPathogenicGRCh38Chr 15, 72370592: 72378536
55HEXANM_ 000520.5(HEXA): c.1444G> A (p.Glu482Lys)SNVPathogenic/ Likely pathogenicrs121907952GRCh37Chr 15, 72637869: 72637869
56HEXANM_ 000520.5(HEXA): c.346+1G> CSNVPathogenic/ Likely pathogenicrs797044432GRCh38Chr 15, 72356524: 72356524
57HEXANM_ 000520.5(HEXA): c.1510delC (p.Arg504Alafs)deletionPathogenicrs797044433GRCh38Chr 15, 72345462: 72345462
58HEXANM_ 000520.5(HEXA): c.1511G> A (p.Arg504His)SNVPathogenic/ Likely pathogenicrs121907955GRCh37Chr 15, 72637802: 72637802
59HEXANM_ 000520.5(HEXA): c.533G> A (p.Arg178His)SNVPathogenicrs28941770GRCh37Chr 15, 72645446: 72645446
60HEXANM_ 000520.5(HEXA): c.532C> T (p.Arg178Cys)SNVPathogenicrs121907953GRCh37Chr 15, 72645447: 72645447
61HEXANM_ 000520.5(HEXA): c.805G> A (p.Gly269Ser)SNVPathogenicrs121907954GRCh37Chr 15, 72642859: 72642859
62HEXANM_ 000520.5(HEXA): c.1496G> A (p.Arg499His)SNVPathogenic/ Likely pathogenicrs121907956GRCh37Chr 15, 72637817: 72637817
63HEXANM_ 000520.5(HEXA): c.509G> A (p.Arg170Gln)SNVPathogenicrs121907957GRCh37Chr 15, 72645470: 72645470
64HEXANM_ 000520.5(HEXA): c.1260G> C (p.Trp420Cys)SNVPathogenicrs121907958GRCh37Chr 15, 72638938: 72638938
65HEXANM_ 000520.5(HEXA): c.409C> T (p.Arg137Ter)SNVPathogenicrs121907962GRCh37Chr 15, 72647903: 72647903
66HEXANM_ 000520.5(HEXA): c.1177C> T (p.Arg393Ter)SNVPathogenicrs121907963GRCh37Chr 15, 72639021: 72639021
67HEXANM_ 000520.5(HEXA): c.1510C> T (p.Arg504Cys)SNVPathogenic/ Likely pathogenicrs28942071GRCh37Chr 15, 72637803: 72637803
68HEXAHEXA, IVS4, G-T, -1SNVPathogenic
69HEXANM_ 000520.5(HEXA): c.629C> T (p.Ser210Phe)SNVPathogenicrs121907961GRCh37Chr 15, 72643517: 72643517
70HEXAHEXA, 5-BP DEL, TCTCC, IVS9deletionPathogenic
71HEXAHEXA, 2-BP DEL, TG, EX5deletionPathogenic
72HEXANM_ 000520.5(HEXA): c.78G> A (p.Trp26Ter)SNVPathogenicrs121907964GRCh37Chr 15, 72668236: 72668236
73HEXANM_ 000520.5(HEXA): c.533G> T (p.Arg178Leu)SNVPathogenicrs28941770GRCh37Chr 15, 72645446: 72645446
74HEXAHEXA, IVS2, G-A, +1SNVPathogenic
75HEXANM_ 000520.5(HEXA): c.1A> G (p.Met1Val)SNVPathogenicrs121907965GRCh37Chr 15, 72668313: 72668313
76HEXANM_ 000520.5(HEXA): c.1495C> T (p.Arg499Cys)SNVPathogenic/ Likely pathogenicrs121907966GRCh37Chr 15, 72637818: 72637818
77HEXANM_ 000520.5(HEXA): c.1453T> C (p.Trp485Arg)SNVPathogenicrs121907968GRCh37Chr 15, 72637860: 72637860
78HEXAHEXA, 1-BP INSinsertionPathogenic
79HEXANM_ 000520.5(HEXA): c.540C> G (p.Tyr180Ter)SNVPathogenicrs121907969GRCh37Chr 15, 72645439: 72645439
80HEXANM_ 000520.5(HEXA): c.1073+1G> ASNVPathogenicrs76173977GRCh37Chr 15, 72640388: 72640388
81HEXANM_ 000520.5(HEXA): c.508C> T (p.Arg170Trp)SNVPathogenic/ Likely pathogenicrs121907972GRCh37Chr 15, 72645471: 72645471
82HEXAHEXA, 2-BP DEL, CODON 310deletionPathogenic
83HEXANM_ 000520.5(HEXA): c.672+1G> ASNVPathogenic/ Likely pathogenicrs387906311GRCh37Chr 15, 72643473: 72643473
84HEXANM_ 000520.5(HEXA): c.632T> C (p.Phe211Ser)SNVPathogenicrs121907974GRCh37Chr 15, 72643514: 72643514
85HEXANM_ 000520.5(HEXA): c.380T> G (p.Leu127Arg)SNVPathogenicrs121907975GRCh37Chr 15, 72647932: 72647932
86HEXANM_ 000520.5(HEXA): c.611A> G (p.His204Arg)SNVPathogenicrs121907976GRCh37Chr 15, 72643535: 72643535
87HEXAHEXA, 2-BP DEL, TT, CODON 142deletionPathogenic
88HEXANM_ 000520.5(HEXA): c.902T> G (p.Met301Arg)SNVPathogenicrs121907977GRCh37Chr 15, 72641504: 72641504
89HEXANM_ 000520.5(HEXA): c.1360G> A (p.Gly454Ser)SNVPathogenicrs121907978GRCh37Chr 15, 72638637: 72638637
90HEXANM_ 000520.5(HEXA): c.116T> G (p.Leu39Arg)SNVPathogenicrs121907979GRCh37Chr 15, 72668198: 72668198
91HEXANM_ 000520.5(HEXA): c.1176G> A (p.Trp392Ter)SNVPathogenicrs267606862GRCh37Chr 15, 72639022: 72639022
92HEXAHEXA, IVS7, G-A, +1SNVPathogenic
93HEXANM_ 000520.5(HEXA): c.805+1G> ASNVPathogenic/ Likely pathogenicrs121907980GRCh37Chr 15, 72642858: 72642858
94HEXANM_ 000520.5(HEXA): c.1351C> G (p.Leu451Val)SNVPathogenicrs28940871GRCh37Chr 15, 72638646: 72638646
95HEXANC_ 000015.10: g.(?_ 72345446)_ (72346710_ ?)deldeletionLikely pathogenicGRCh38Chr 15, 72345446: 72346710
96HEXANM_ 000520.5(HEXA): c.1275_ 1278dupATCC (p.Tyr427Ilefs)duplicationPathogenicGRCh37Chr 15, 72638920: 72638923

Expression for genes affiliated with Tay-Sachs Disease

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Search GEO for disease gene expression data for Tay-Sachs Disease.

Pathways for genes affiliated with Tay-Sachs Disease

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GO Terms for genes affiliated with Tay-Sachs Disease

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Cellular components related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1azurophil granuleGO:004258210.7HEXA, HEXB
2azurophil granule lumenGO:00355789.8ARSA, CTSA, GM2A, HEXB
3lysosomal lumenGO:00432028.7ARSA, CTSA, GM2A, HEXA, HEXB, NEU1
4lysosomeGO:00057648.1ARSA, CTSA, GM2A, HEXA, HEXB, NEU1
5extracellular exosomeGO:00700627.7ARSA, CTSA, ETFA, GM2A, HEXA, HEXB

Biological processes related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1chondroitin sulfate catabolic processGO:003020710.6HEXA, HEXB
2hyaluronan catabolic processGO:003021410.6HEXA, HEXB
3keratan sulfate catabolic processGO:004234010.6HEXA, HEXB
4lipid storageGO:001991510.6GM2A, HEXB
5neuromuscular process controlling balanceGO:005088510.6GM2A, HEXB
6carbohydrate metabolic processGO:000597510.2HEXA, HEXB, NEU1
7ganglioside catabolic processGO:000668910.2GM2A, HEXB, NEU1
8oligosaccharide catabolic processGO:000931310.1GM2A, HEXB, NEU1
9sphingolipid metabolic processGO:00066659.9GM2A, PSAP
10positive regulation of catalytic activityGO:00430859.8CTSA, GM2A, PSAP
11metabolic processGO:00081529.3ARSA, HEXA, HEXB, MGEA5, NEU1
12neutrophil degranulationGO:00433128.9ARSA, CTSA, GM2A, HEXB, NEU1, PSAP
13glycosphingolipid metabolic processGO:00066878.8ARSA, CTSA, GM2A, HEXA, HEXB, NEU1

Molecular functions related to Tay-Sachs Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:000837510.6HEXA, HEXB
2beta-N-acetylhexosaminidase activityGO:000456310.4GM2A, HEXA, HEXB
3exo-alpha-sialidase activityGO:000430810.3CTSA, NEU1
4enzyme activator activityGO:000804710.1CTSA, GM2A, PSAP
5hydrolase activity, acting on glycosyl bondsGO:00167989.0HEXA, HEXB, MGEA5, NEU1
6hydrolase activityGO:00167878.4ARSA, CTSA, GM2A, HEXA, HEXB, MGEA5

Sources for Tay-Sachs 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