MCID: SPN203
MIFTS: 19

Spinocerebellar Ataxia, X-Linked 5

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

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 5

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 5:

Name: Spinocerebellar Ataxia, X-Linked 5 57 13 73
Scax5 57 59
X-Linked Non Progressive Cerebellar Ataxia 59
X-Linked Spinocerebellar Ataxia Type 5 59

Characteristics:

Orphanet epidemiological data:

59
x-linked non progressive cerebellar ataxia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
onset in infancy
nonprogressive disorder
symptoms tend to improve with age
patients achieve ambulation

Inheritance:
x-linked recessive


HPO:

32
spinocerebellar ataxia, x-linked 5:
Onset and clinical course infantile onset nonprogressive
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, X-Linked 5

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 5, is also known as scax5, and has symptoms including ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia, X-Linked 5 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3). Related phenotypes are nonprogressive cerebellar ataxia and strabismus

Description from OMIM: 300703

Related Diseases for Spinocerebellar Ataxia, X-Linked 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
ataxia
dysarthria
action tremor
delayed motor development
normal intelligence
more

Clinical features from OMIM:

300703

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 5:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nonprogressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002470
2 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
3 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
4 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
5 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
6 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
7 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
8 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
9 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
10 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
11 action tremor 59 32 Frequent (79-30%) HP:0002345
12 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
13 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
14 generalized neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008935
15 intellectual disability 59 Excluded (0%)
16 babinski sign 59 Excluded (0%)
17 nystagmus 32 HP:0000639
18 ataxia 32 HP:0001251
19 dysarthria 32 HP:0001260
20 neonatal hypotonia 32 HP:0001319

UMLS symptoms related to Spinocerebellar Ataxia, X-Linked 5:


ataxia, action tremor

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 5

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, X-Linked 5

Genetic Tests for Spinocerebellar Ataxia, X-Linked 5

Anatomical Context for Spinocerebellar Ataxia, X-Linked 5

Publications for Spinocerebellar Ataxia, X-Linked 5

Variations for Spinocerebellar Ataxia, X-Linked 5

Expression for Spinocerebellar Ataxia, X-Linked 5

Search GEO for disease gene expression data for Spinocerebellar Ataxia, X-Linked 5.

Pathways for Spinocerebellar Ataxia, X-Linked 5

GO Terms for Spinocerebellar Ataxia, X-Linked 5

Sources for Spinocerebellar Ataxia, X-Linked 5

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
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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
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