MCID: SPN403
MIFTS: 14

Spinocerebellar Ataxia, X-Linked 2

Categories: Rare diseases, Neuronal diseases, Ear diseases, Mental diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 2

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 2:

Name: Spinocerebellar Ataxia, X-Linked 2 57 73
Scax2 57 53
Cerebellar Ataxia with Extrapyramidal Involvement, Early-Onset 57
Cerebellar Ataxia with Extrapyramidal Involvement Early-Onset 53
Spinocerebellar Ataxia X-Linked Type 2 53

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
spinocerebellar ataxia, x-linked 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 302600
MedGen 42 C1844885
UMLS 73 C1844885

Summaries for Spinocerebellar Ataxia, X-Linked 2

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 2, is also known as scax2. An important gene associated with Spinocerebellar Ataxia, X-Linked 2 is SCAX2 (Spinocerebellar Ataxia, X-Linked 2). Related phenotypes are ataxia and abnormality of extrapyramidal motor function

Description from OMIM: 302600

Related Diseases for Spinocerebellar Ataxia, X-Linked 2

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 2

Symptoms via clinical synopsis from OMIM:

57
Neuro:
cerebellar ataxia
late extrapyramidal signs


Clinical features from OMIM:

302600

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 2:

32
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 abnormality of extrapyramidal motor function 32 HP:0002071

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 2

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, X-Linked 2

Genetic Tests for Spinocerebellar Ataxia, X-Linked 2

Anatomical Context for Spinocerebellar Ataxia, X-Linked 2

Publications for Spinocerebellar Ataxia, X-Linked 2

Variations for Spinocerebellar Ataxia, X-Linked 2

Expression for Spinocerebellar Ataxia, X-Linked 2

Search GEO for disease gene expression data for Spinocerebellar Ataxia, X-Linked 2.

Pathways for Spinocerebellar Ataxia, X-Linked 2

GO Terms for Spinocerebellar Ataxia, X-Linked 2

Sources for Spinocerebellar Ataxia, X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....