MCID: SPS162
MIFTS: 9

Spastic Ataxia 1

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

Aliases & Classifications for Spastic Ataxia 1

MalaCards integrated aliases for Spastic Ataxia 1:

Name: Spastic Ataxia 1 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050772

Summaries for Spastic Ataxia 1

Disease Ontology : 12 A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has material basis in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.

MalaCards based summary : Spastic Ataxia 1 is related to spastic ataxia 1, autosomal dominant and spastic ataxia. An important gene associated with Spastic Ataxia 1 is VAMP1 (Vesicle Associated Membrane Protein 1).

Related Diseases for Spastic Ataxia 1

Symptoms & Phenotypes for Spastic Ataxia 1

Drugs & Therapeutics for Spastic Ataxia 1

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 1

Genetic Tests for Spastic Ataxia 1

Anatomical Context for Spastic Ataxia 1

Publications for Spastic Ataxia 1

Articles related to Spastic Ataxia 1:

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

Variations for Spastic Ataxia 1

Expression for Spastic Ataxia 1

Search GEO for disease gene expression data for Spastic Ataxia 1.

Pathways for Spastic Ataxia 1

GO Terms for Spastic Ataxia 1

Sources for Spastic Ataxia 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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