SCAX4
MCID: SPN363
MIFTS: 35

Spinocerebellar Ataxia, X-Linked 4 (SCAX4)

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

Aliases & Classifications for Spinocerebellar Ataxia, X-Linked 4

MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 4:

Name: Spinocerebellar Ataxia, X-Linked 4 57 70
Scax4 57 12 20 58
X-Linked Spinocerebellar Ataxia Type 4 12 58
X-Linked Spinocerebellar Ataxia 4 12 15
X-Linked Ataxia-Dementia Syndrome 12 58
Spinocerebellar Ataxia X-Linked Type 4 20
Spinocerebellar Ataxia, X-Linked, 4 44
Ataxia-Dementia Syndrome, X-Linked 57
Ataxia-Dementia Syndrome X-Linked 20

Characteristics:

Orphanet epidemiological data:

58
x-linked spinocerebellar ataxia type 4
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

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


HPO:

31
spinocerebellar ataxia, x-linked 4:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111832
OMIM® 57 301840
MeSH 44 C537316
SNOMED-CT 67 719818007
MESH via Orphanet 45 C537316
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 71 C1844933
Orphanet 58 ORPHA85292
MedGen 41 C1844933
UMLS 70 C1844933

Summaries for Spinocerebellar Ataxia, X-Linked 4

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85292 Definition Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 4, also known as scax4, is related to spinocerebellar ataxia, x-linked 2 and spinocerebellar ataxia 18. An important gene associated with Spinocerebellar Ataxia, X-Linked 4 is SCAX4 (Spinocerebellar Ataxia, X-Linked 4), and among its related pathways/superpathways are CREB Pathway and Circadian entrainment. Related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

Disease Ontology : 12 An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.

More information from OMIM: 301840

Related Diseases for Spinocerebellar Ataxia, X-Linked 4

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, X-Linked 4:



Diseases related to Spinocerebellar Ataxia, X-Linked 4

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 4

Human phenotypes related to Spinocerebellar Ataxia, X-Linked 4:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
5 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
6 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
7 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
8 ataxia 31 HP:0001251
9 tremor 31 HP:0001337
10 morphological abnormality of the pyramidal tract 31 HP:0002062
11 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
ataxia
tremor
delayed walking
pyramidal tract signs
adult-onset dementia

Clinical features from OMIM®:

301840 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, X-Linked 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ATP2B2 ATP2B3 CAV1 CHD7 FMR1 GRID2
2 cellular MP:0005384 10.06 ATP2B2 CAV1 CHD7 FMR1 GRID2 GRM1
3 homeostasis/metabolism MP:0005376 10 ATP2B2 CAV1 CHD7 GRID2 GRM1 ITPR1
4 muscle MP:0005369 9.76 CAV1 CHD7 GRID2 GRM1 ITPR1 NOS1
5 nervous system MP:0003631 9.7 ATP2B2 CAV1 CHD7 FMR1 GRID2 GRM1
6 reproductive system MP:0005389 9.23 ATP2B2 CAV1 CHD7 FMR1 GRID2 GRM1

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 4

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, X-Linked 4

Cochrane evidence based reviews: spinocerebellar ataxia, x-linked, 4

Genetic Tests for Spinocerebellar Ataxia, X-Linked 4

Anatomical Context for Spinocerebellar Ataxia, X-Linked 4

Publications for Spinocerebellar Ataxia, X-Linked 4

Articles related to Spinocerebellar Ataxia, X-Linked 4:

# Title Authors PMID Year
1
X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis. 57
3470628 1987

Variations for Spinocerebellar Ataxia, X-Linked 4

Expression for Spinocerebellar Ataxia, X-Linked 4

Search GEO for disease gene expression data for Spinocerebellar Ataxia, X-Linked 4.

Pathways for Spinocerebellar Ataxia, X-Linked 4

Pathways related to Spinocerebellar Ataxia, X-Linked 4 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 PPP3R1 ITPR1 GRM1 GRID2 ATP2B3 ATP2B2
2
Show member pathways
12.5 PPP3R1 NOS1 ITPR1 GRM1
3
Show member pathways
12.23 PPP3R1 ITPR1 ATP2B3 ATP2B2
4
Show member pathways
12.2 NOS1 ITPR1 ATP2B3 ATP2B2
5 12.09 SLC9A3R2 NOS1 ITPR1 GRM1 FMR1
6
Show member pathways
12.06 NOS1 ITPR1 ATP2B3 ATP2B2
7 11.84 PPP3R1 NOS1 ITPR1
8
Show member pathways
11.83 NOS1 ITPR1 ATP2B3 ATP2B2
9
Show member pathways
11.67 PPP3R1 ITPR1 GRM1
10
Show member pathways
11.5 PPP3R1 ITPR1 GRM1
11 11.48 PPP3R1 NOS1 ITPR1 GRM1 ATP2B3 ATP2B2
12 11.03 NOS1 ITPR1 GRM1 GRID2
13 10.97 PPP3R1 NOS1

GO Terms for Spinocerebellar Ataxia, X-Linked 4

Cellular components related to Spinocerebellar Ataxia, X-Linked 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.56 GRM1 GRID2 ATP2B3 ATP2B2
2 presynapse GO:0098793 9.54 FMR1 ATP2B3 ATP2B2
3 dendritic spine GO:0043197 9.5 NOS1 GRID2 FMR1
4 sarcolemma GO:0042383 9.33 PPP3R1 NOS1 CAV1
5 postsynaptic density GO:0014069 9.26 NOS1 ITPR1 GRM1 FMR1
6 calcineurin complex GO:0005955 8.62 PPP3R1 ITPR1

Biological processes related to Spinocerebellar Ataxia, X-Linked 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.65 NOS1 ITPR1 CAV1
2 calcium ion transmembrane transport GO:0070588 9.63 ITPR1 ATP2B3 ATP2B2
3 ion transmembrane transport GO:0034220 9.62 ITPR1 GRID2 ATP2B3 ATP2B2
4 cellular calcium ion homeostasis GO:0006874 9.58 CAV1 ATP2B3 ATP2B2
5 calcium ion transport GO:0006816 9.46 ITPR1 CAV1 ATP2B3 ATP2B2
6 glutamate receptor signaling pathway GO:0007215 9.43 GRID2 FMR1
7 regulation of cytosolic calcium ion concentration GO:0051480 9.43 CAV1 ATP2B3 ATP2B2
8 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 9.37 ATP2B3 ATP2B2
9 regulation of postsynaptic cytosolic calcium ion concentration GO:0099566 9.13 ITPR1 GRM1 ATP2B2
10 regulation of cardiac conduction GO:1903779 8.92 NOS1 ITPR1 ATP2B3 ATP2B2

Molecular functions related to Spinocerebellar Ataxia, X-Linked 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.61 NOS1 FMR1 CAV1
2 PDZ domain binding GO:0030165 9.5 GRID2 ATP2B3 ATP2B2
3 glutamate receptor activity GO:0008066 9.4 GRM1 GRID2
4 cation-transporting ATPase activity GO:0019829 9.37 ATP2B3 ATP2B2
5 calcium-transporting ATPase activity GO:0005388 9.26 ATP2B3 ATP2B2
6 calmodulin binding GO:0005516 9.26 PPP3R1 NOS1 ATP2B3 ATP2B2
7 calcium ion transmembrane transporter activity GO:0015085 9.16 ITPR1 ATP2B3
8 calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration GO:1905056 8.62 ATP2B3 ATP2B2

Sources for Spinocerebellar Ataxia, X-Linked 4

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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