MCID: TYS004

Tay-Sachs Disease, B Variant, Infantile Form malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases categories

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

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

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

Name: Tay-Sachs Disease, B Variant, Infantile Form 51
Gm2 Gangliosidosis, B Variant, Infantile Form 51
 
Hexosaminidase a Deficiency, Infantile Form 51


Classifications:



External Ids:

Orphanet51 309178
ICD10 via Orphanet28 E75.0

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

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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 A (Alpha Polypeptide)). Affiliated tissues include eye.

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

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

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 32072599-27-051634
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 Hydrochloride
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

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

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

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MalaCards organs/tissues related to Tay-Sachs Disease, B Variant, Infantile Form:

33
Eye

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

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

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

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

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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

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

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

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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