SCAX5
MCID: SPN203
MIFTS: 31

Spinocerebellar Ataxia, X-Linked 5 (SCAX5)

Categories: Ear diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 70
X-Linked Non Progressive Cerebellar Ataxia 12 58
X-Linked Spinocerebellar Ataxia 5 12 15
Scax5 57 12

Characteristics:

Orphanet epidemiological data:

58
x-linked non progressive cerebellar ataxia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in infancy
nonprogressive disorder
symptoms tend to improve with age
patients achieve ambulation

Inheritance:
x-linked recessive


HPO:

31
spinocerebellar ataxia, x-linked 5:
Onset and clinical course infantile onset nonprogressive
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111833
OMIM® 57 300703
SNOMED-CT 67 766818009
ICD10 via Orphanet 33 G11.0
Orphanet 58 ORPHA314978
MedGen 41 C2678048
UMLS 70 C2678048

Summaries for Spinocerebellar Ataxia, X-Linked 5

Disease Ontology : 12 An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has material basis in hemizygous mutation in region of chromosome Xq25-q27.1.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 5, also known as x-linked non progressive cerebellar ataxia, is related to spinocerebellar ataxia, x-linked 2 and spinocerebellar ataxia 27, 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), and among its related pathways/superpathways are CREB Pathway and Cardiac conduction. Related phenotypes are nonprogressive cerebellar ataxia and strabismus

More information from OMIM: 300703

Related Diseases for Spinocerebellar Ataxia, X-Linked 5

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 5:



Diseases related to Spinocerebellar Ataxia, X-Linked 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 5

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

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nonprogressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002470
2 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
5 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
6 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
7 generalized neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008935
8 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
9 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
10 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
11 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
12 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
13 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
14 action tremor 58 31 Frequent (79-30%) HP:0002345
15 intellectual disability 58 Excluded (0%)
16 nystagmus 31 HP:0000639
17 ataxia 31 HP:0001251
18 dysarthria 31 HP:0001260
19 neonatal hypotonia 31 HP:0001319
20 babinski sign 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus

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

Clinical features from OMIM®:

300703 (Updated 05-Apr-2021)

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

Articles related to Spinocerebellar Ataxia, X-Linked 5:

# Title Authors PMID Year
1
X-linked congenital ataxia: a new locus maps to Xq25-q27.1. 57
18241076 2008
2
X-linked congenital ataxia: a clinical and genetic study. 57
10797423 2000
3
X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. 57
8687195 1996

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

Pathways related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 FGF17 FGF14 FGF11 ATP2B3
2
Show member pathways
12.38 FGF14 FGF11 ATP2B3
3
Show member pathways
12.2 FGF17 FGF14 FGF11
4 12.07 FGF17 FGF14 FGF11
5
Show member pathways
11.93 FGF17 FGF14 FGF11
6
Show member pathways
11.64 FGF17 FGF14 FGF11
7
Show member pathways
11.51 FGF17 FGF14 FGF11
8
Show member pathways
11.24 FGF14 FGF11
9
Show member pathways
11.21 FGF17 FGF14 FGF11
10 11.02 FGF17 FGF14 FGF11

GO Terms for Spinocerebellar Ataxia, X-Linked 5

Biological processes related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.43 FGF17 FGF14 FGF11
2 JNK cascade GO:0007254 9.16 MAPK8IP2 FGF14
3 cell-cell signaling GO:0007267 9.13 FGF17 FGF14 FGF11
4 regulation of voltage-gated sodium channel activity GO:1905150 8.62 FGF14 FGF11

Molecular functions related to Spinocerebellar Ataxia, X-Linked 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium channel regulator activity GO:0017080 8.96 FGF14 FGF11
2 growth factor activity GO:0008083 8.8 FGF17 FGF14 FGF11

Sources for Spinocerebellar Ataxia, X-Linked 5

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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