MCID: TYS006
MIFTS: 13

Tay-Sachs Disease, B Variant, Adult Form

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

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

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

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

Classifications:



External Ids:

Orphanet 56 ORPHA309192
UMLS via Orphanet 70 C1848914
ICD10 via Orphanet 34 E75.0

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

MalaCards based summary : Tay-Sachs Disease, B Variant, Adult Form, is also known as gm2 gangliosidosis, b variant, adult form. An important gene associated with Tay-Sachs Disease, B Variant, Adult Form is HEXA (Hexosaminidase Subunit Alpha). The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder.

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

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

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

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

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5 Prednisolone acetate Phase 2, Phase 3
6 Alkylating Agents Phase 2, Phase 3
7 Methylprednisolone acetate Phase 2, Phase 3
8 Methylprednisolone Hemisuccinate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Prednisolone hemisuccinate Phase 2, Phase 3
11 Prednisolone phosphate Phase 2, Phase 3
12 Antilymphocyte Serum Phase 2, Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14
Melphalan Approved Phase 2 148-82-3 4053 460612
15
Hydroxyurea Approved Phase 2 127-07-1 3657
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17
alemtuzumab Approved, Investigational Phase 2 216503-57-0
18
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
19
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
20 tannic acid Approved, Nutraceutical Phase 2
21 Cyclosporins Phase 2
22 Dermatologic Agents Phase 2
23 Nucleic Acid Synthesis Inhibitors Phase 2
24 Anti-Infective Agents Phase 2
25 Antifungal Agents Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 Calcineurin Inhibitors Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
3 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257

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

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

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

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

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

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

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

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

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

Sources for Tay-Sachs Disease, B Variant, Adult 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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