CAMRQ
MCID: CRB158
MIFTS: 18

Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome (CAMRQ)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:

Name: Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 12 15
Camrq 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050997

Summaries for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

MalaCards based summary : Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome, also known as camrq, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 and aceruloplasminemia. An important gene associated with Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome is ATP8A2 (ATPase Phospholipid Transporting 8A2). Related phenotypes are growth/size/body region and vision/eye

Related Diseases for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:



Diseases related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Symptoms & Phenotypes for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

MGI Mouse Phenotypes related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 ATP8A1 ATP8A2 EHD1 VLDLR WDR81
2 vision/eye MP:0005391 8.92 ATP8A2 EHD1 VLDLR WDR81

Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Genetic Tests for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Anatomical Context for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Publications for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Articles related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome:

# Title Authors Year
1
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). ( 27390838 )
2015

Variations for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Expression for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome.

Pathways for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

GO Terms for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

Cellular components related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome membrane GO:0031901 8.96 EHD1 WDR81
2 endosome GO:0005768 8.8 ATP8A2 EHD1 WDR81

Biological processes related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.4 EHD1 VLDLR
2 neuron projection development GO:0031175 9.37 ATP8A2 EHD1
3 positive regulation of neuron projection development GO:0010976 9.32 ATP8A2 EHD1
4 phospholipid transport GO:0015914 9.26 ATP8A1 ATP8A2
5 phospholipid translocation GO:0045332 9.16 ATP8A1 ATP8A2
6 lipid transport GO:0006869 9.13 ATP8A1 ATP8A2 VLDLR
7 positive regulation of phospholipid translocation GO:0061092 8.62 ATP8A1 ATP8A2

Molecular functions related to Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 8.96 ATP8A1 ATP8A2
2 phospholipid-translocating ATPase activity GO:0004012 8.62 ATP8A1 ATP8A2

Sources for Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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