MCID: ATS437
MIFTS: 8

Autosomal Dominant Spastic Ataxia

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

Aliases & Classifications for Autosomal Dominant Spastic Ataxia

MalaCards integrated aliases for Autosomal Dominant Spastic Ataxia:

Name: Autosomal Dominant Spastic Ataxia 58
Ad-Spax 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA316235

Summaries for Autosomal Dominant Spastic Ataxia

MalaCards based summary : Autosomal Dominant Spastic Ataxia, also known as ad-spax, is related to spastic ataxia 1, autosomal dominant and spastic ataxia 7, autosomal dominant. An important gene associated with Autosomal Dominant Spastic Ataxia is VAMP1 (Vesicle Associated Membrane Protein 1).

Related Diseases for Autosomal Dominant Spastic Ataxia

Symptoms & Phenotypes for Autosomal Dominant Spastic Ataxia

Drugs & Therapeutics for Autosomal Dominant Spastic Ataxia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Spastic Ataxia

Genetic Tests for Autosomal Dominant Spastic Ataxia

Anatomical Context for Autosomal Dominant Spastic Ataxia

Publications for Autosomal Dominant Spastic Ataxia

Articles related to Autosomal Dominant Spastic Ataxia:

# Title Authors PMID Year
1
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome. 61
32616363 2020

Variations for Autosomal Dominant Spastic Ataxia

Expression for Autosomal Dominant Spastic Ataxia

Search GEO for disease gene expression data for Autosomal Dominant Spastic Ataxia.

Pathways for Autosomal Dominant Spastic Ataxia

GO Terms for Autosomal Dominant Spastic Ataxia

Sources for Autosomal Dominant Spastic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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