MCID: TYS004
MIFTS: 11

Tay-Sachs Disease, B Variant, Infantile Form malady

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

Aliases & Classifications for Tay-Sachs Disease, B Variant, Infantile Form

About this section
Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Tay-Sachs Disease, B Variant, Infantile Form:

Name: Tay-Sachs Disease, B Variant, Infantile Form 53
Gm2 Gangliosidosis, B Variant, Infantile Form 53
 
Hexosaminidase a Deficiency, Infantile Form 53

Classifications:



External Ids:

Orphanet53 ORPHA309178
ICD10 via Orphanet30 E75.0

Summaries for Tay-Sachs Disease, B Variant, Infantile Form

About this section
MalaCards based summary: Tay-Sachs Disease, B Variant, Infantile Form, is also known as gm2 gangliosidosis, b variant, infantile form An important gene associated with Tay-Sachs Disease, B Variant, Infantile Form is HEXA (Hexosaminidase Subunit Alpha).

Related Diseases for Tay-Sachs Disease, B Variant, Infantile Form

About this section

Symptoms for Tay-Sachs Disease, B Variant, Infantile Form

About this section

Drugs & Therapeutics for Tay-Sachs Disease, B Variant, Infantile Form

About this section

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 32172599-27-051634
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 32619130-96-21374
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
3Glycoside Hydrolase InhibitorsPhase 3128
4Hypoglycemic AgentsPhase 35733
5Cardiac GlycosidesPhase 3148
6Antiviral AgentsPhase 39732
7Anti-HIV AgentsPhase 33100
8Anti-Infective AgentsPhase 321402
9Anti-Retroviral AgentsPhase 33232

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesCompletedNCT00672022Phase 3

Search NIH Clinical Center for Tay-Sachs Disease, B Variant, Infantile Form

Genetic Tests for Tay-Sachs Disease, B Variant, Infantile Form

About this section

Anatomical Context for Tay-Sachs Disease, B Variant, Infantile Form

About this section

Animal Models for Tay-Sachs Disease, B Variant, Infantile Form or affiliated genes

About this section

Publications for Tay-Sachs Disease, B Variant, Infantile Form

About this section

Variations for Tay-Sachs Disease, B Variant, Infantile Form

About this section

Expression for genes affiliated with Tay-Sachs Disease, B Variant, Infantile Form

About this section
Search GEO for disease gene expression data for Tay-Sachs Disease, B Variant, Infantile Form.

Pathways for genes affiliated with Tay-Sachs Disease, B Variant, Infantile Form

About this section

GO Terms for genes affiliated with Tay-Sachs Disease, B Variant, Infantile Form

About this section

Sources for Tay-Sachs Disease, B Variant, Infantile Form

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet