MCID: SPN363
MIFTS: 19

Spinocerebellar Ataxia, X-Linked 4

Categories: Rare diseases, Neuronal diseases, Mental diseases, Ear diseases, Genetic diseases, Eye 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 73
Scax4 57 53 59
Spinocerebellar Ataxia X-Linked Type 4 53
X-Linked Spinocerebellar Ataxia Type 4 59
Ataxia-Dementia Syndrome, X-Linked 57
Ataxia-Dementia Syndrome X-Linked 53
X-Linked Ataxia-Dementia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked spinocerebellar ataxia type 4
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
x-linked


HPO:

32
spinocerebellar ataxia, x-linked 4:
Inheritance x-linked inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 301840
Orphanet 59 ORPHA85292
MESH via Orphanet 45 C537316
UMLS via Orphanet 74 C1844933
ICD10 via Orphanet 34 G11.1
MedGen 42 C1844933
UMLS 73 C1844933

Summaries for Spinocerebellar Ataxia, X-Linked 4

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85292Disease definitionSpinocerebellar 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia, X-Linked 4, is also known as scax4. An important gene associated with Spinocerebellar Ataxia, X-Linked 4 is SCAX4 (Spinocerebellar Ataxia, X-Linked 4). Related phenotypes are abnormal pyramidal signs and memory impairment

Description from OMIM: 301840

Related Diseases for Spinocerebellar Ataxia, X-Linked 4

Symptoms & Phenotypes for Spinocerebellar Ataxia, X-Linked 4

Symptoms via clinical synopsis from OMIM:

57
Neuro:
ataxia
tremor
delayed walking
pyramidal tract signs
adult-onset dementia


Clinical features from OMIM:

301840

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

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
2 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
3 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
4 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
5 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
6 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
7 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
8 ataxia 32 HP:0001251
9 tremor 32 HP:0001337
10 morphological abnormality of the pyramidal tract 32 HP:0002062

Drugs & Therapeutics for Spinocerebellar Ataxia, X-Linked 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for 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

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

GO Terms for Spinocerebellar Ataxia, X-Linked 4

Sources for Spinocerebellar Ataxia, X-Linked 4

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
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