MCID: SPS171
MIFTS: 11

Spastic Ataxia 5

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

Aliases & Classifications for Spastic Ataxia 5

MalaCards integrated aliases for Spastic Ataxia 5:

Name: Spastic Ataxia 5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050944

Summaries for Spastic Ataxia 5

Disease Ontology : 12 A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has material basis in homozygous mutation in the AFG3L2 gene on chromosome 18p11.

MalaCards based summary : Spastic Ataxia 5 is related to spastic ataxia 5, autosomal recessive and spinocerebellar ataxia 28. An important gene associated with Spastic Ataxia 5 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). Affiliated tissues include eye.

Related Diseases for Spastic Ataxia 5

Symptoms & Phenotypes for Spastic Ataxia 5

Drugs & Therapeutics for Spastic Ataxia 5

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Genetic Tests for Spastic Ataxia 5

Anatomical Context for Spastic Ataxia 5

MalaCards organs/tissues related to Spastic Ataxia 5:

42
Eye

Publications for Spastic Ataxia 5

Variations for Spastic Ataxia 5

Expression for Spastic Ataxia 5

Search GEO for disease gene expression data for Spastic Ataxia 5.

Pathways for Spastic Ataxia 5

GO Terms for Spastic Ataxia 5

Sources for Spastic Ataxia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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