MCID: TYS004
MIFTS: 11

Tay-Sachs Disease, B Variant, Infantile Form

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

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

MalaCards integrated aliases for Tay-Sachs Disease, B Variant, Infantile Form:

Name: Tay-Sachs Disease, B Variant, Infantile Form 56
Gm2 Gangliosidosis, B Variant, Infantile Form 56
Hexosaminidase a Deficiency, Infantile Form 56

Classifications:



External Ids:

Orphanet 56 ORPHA309178
ICD10 via Orphanet 34 E75.0

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

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). The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder.

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

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

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

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 3 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 3 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 3
4 Hypoglycemic Agents Phase 3
5 Anti-HIV Agents Phase 3
6 Anti-Infective Agents Phase 3
7 Anti-Retroviral Agents Phase 3
8 Cardiac Glycosides Phase 3
9 Antiviral Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)

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

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

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

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

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

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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