MCID: CRB141
MIFTS: 19

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

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

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 57 75 29 6 73
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 4 57 75
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 4 40
Camrq4 57
Cmarq4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one family has been reported (last curated june 2013)


HPO:

32
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

OMIM : 57 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050). (615268)

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including ataxia, truncal An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 is ATP8A2 (ATPase Phospholipid Transporting 8A2). Related phenotypes are intellectual disability and dysarthria

UniProtKB/Swiss-Prot : 75 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation.

Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

Diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.0

Symptoms & Phenotypes for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation
truncal ataxia
dysarthria
inability to walk
quadrupedal locomotion (in some patients)
more

Clinical features from OMIM:

615268

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 dysarthria 32 HP:0001260
3 cerebellar atrophy 32 HP:0001272
4 cerebral atrophy 32 HP:0002059
5 truncal ataxia 32 HP:0002078
6 inability to walk 32 HP:0002540
7 corpus callosum atrophy 32 HP:0007371

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:


ataxia, truncal

Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

Genetic Tests for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 29 ATP8A2

Anatomical Context for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Publications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

75
# Symbol AA change Variation ID SNP ID
1 ATP8A2 p.Ile336Met VAR_069928

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP8A2 NM_016529.5(ATP8A2): c.1128C> G (p.Ile376Met) single nucleotide variant Pathogenic rs546968533 GRCh37 Chromosome 13, 26128001: 26128001
2 ATP8A2 NM_016529.5(ATP8A2): c.1128C> G (p.Ile376Met) single nucleotide variant Pathogenic rs546968533 GRCh38 Chromosome 13, 25553863: 25553863
3 ATP8A2 NM_016529.5(ATP8A2): c.2689G> A (p.Ala897Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 26402265: 26402265
4 ATP8A2 NM_016529.5(ATP8A2): c.2689G> A (p.Ala897Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 25828127: 25828127
5 ATP8A2 NM_001313741.1(ATP8A2): c.2213G> A (p.Arg738Gln) single nucleotide variant Likely pathogenic rs202017613 GRCh37 Chromosome 13, 26273432: 26273432
6 ATP8A2 NM_001313741.1(ATP8A2): c.2213G> A (p.Arg738Gln) single nucleotide variant Likely pathogenic rs202017613 GRCh38 Chromosome 13, 25699294: 25699294

Expression for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4.

Pathways for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

GO Terms for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Sources for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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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