SCAX2
MCID: SPN403
MIFTS: 20

Spinocerebellar Ataxia, X-Linked 2 (SCAX2)

Categories: Ear diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 70
Scax2 57 12 20
Cerebellar Ataxia with Extrapyramidal Involvement Early-Onset 12 20
X-Linked Spinocerebellar Ataxia 2 12 15
Cerebellar Ataxia with Extrapyramidal Involvement, Early-Onset 57
Spinocerebellar Ataxia X-Linked Type 2 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
spinocerebellar ataxia, x-linked 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111830
OMIM® 57 302600
MedGen 41 C1844885
UMLS 70 C1844885

Summaries for Spinocerebellar Ataxia, X-Linked 2

Disease Ontology : 12 An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 2, also known as scax2, is related to spinocerebellar ataxia, x-linked 5 and spinocerebellar ataxia, x-linked 4. An important gene associated with Spinocerebellar Ataxia, X-Linked 2 is SCAX2 (Spinocerebellar Ataxia, X-Linked 2). Affiliated tissues include cerebellum, and related phenotypes are ataxia and abnormality of extrapyramidal motor function

More information from OMIM: 302600

Related Diseases for Spinocerebellar Ataxia, X-Linked 2

Diseases in the Spinocerebellar Ataxia, X-Linked 1 family:

Spinocerebellar Ataxia, X-Linked 5 Spinocerebellar Ataxia, X-Linked 3
Spinocerebellar Ataxia, X-Linked 4 Spinocerebellar Ataxia, X-Linked 2

Diseases related to Spinocerebellar Ataxia, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, x-linked 5 9.8 TK2 ATP2B3
2 spinocerebellar ataxia, x-linked 4 9.7 TK2 ATP2B3
3 spinocerebellar ataxia, x-linked 3 9.7 TK2 ATP2B3
4 spinocerebellar ataxia, autosomal recessive 3 9.7 SORBS3 ACADS
5 x-linked cerebellar ataxia 9.6 SORBS3 ATP2B3 ACADS
6 spinocerebellar ataxia, x-linked 1 9.4 SCAI ATP2B3 ACADS

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 2:



Diseases related to Spinocerebellar Ataxia, X-Linked 2

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 2

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

31
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 abnormality of extrapyramidal motor function 31 HP:0002071

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
cerebellar ataxia
late extrapyramidal signs

Clinical features from OMIM®:

302600 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Spinocerebellar Ataxia, X-Linked 2:

40
Cerebellum

Publications for Spinocerebellar Ataxia, X-Linked 2

Articles related to Spinocerebellar Ataxia, X-Linked 2:

# Title Authors PMID Year
1
Unusual form of cerebellar ataxia with sex-linked inheritance. 57
13541590 1958
2
Expression of an Arabidopsis CAX2 variant in potato tubers increases calcium levels with no accumulation of manganese. 61
17024452 2006

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 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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