CMARQ4
MCID: CRB141
MIFTS: 21

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 (CMARQ4)

Categories: Genetic diseases, Mental diseases, Neuronal 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 58 76 30 6 74
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 4 58 76
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 4 41
Camrq4 58
Cmarq4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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 : 76 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 11.2

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 dysarthria 33 HP:0001260
3 inability to walk 33 HP:0002540
4 truncal ataxia 33 HP:0002078
5 cerebellar atrophy 33 HP:0001272
6 corpus callosum atrophy 33 HP:0007371
7 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
inability to walk
truncal ataxia
cerebellar atrophy
cerebral atrophy
more

Clinical features from OMIM:

615268

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 30 ATP8A2

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

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

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

# Title Authors Year
1
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. ( 22892528 )
2013
2
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. ( 18326629 )
2008

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

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

76
# Symbol AA change Variation ID SNP ID
1 ATP8A2 p.Ile376Met VAR_069928 rs546968533

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 rs1171835963 GRCh37 Chromosome 13, 26402265: 26402265
4 ATP8A2 NM_016529.5(ATP8A2): c.2689G> A (p.Ala897Thr) single nucleotide variant Uncertain significance rs1171835963 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
7 ATP8A2 NM_016529.5(ATP8A2): c.158C> T (p.Ala53Val) single nucleotide variant Uncertain significance rs202073376 GRCh38 Chromosome 13, 25469058: 25469058
8 ATP8A2 NM_016529.5(ATP8A2): c.158C> T (p.Ala53Val) single nucleotide variant Uncertain significance rs202073376 GRCh37 Chromosome 13, 26043196: 26043196
9 ATP8A2 NM_016529.5(ATP8A2): c.3439C> T (p.Arg1147Trp) single nucleotide variant Uncertain significance rs371560228 GRCh38 Chromosome 13, 26012592: 26012592
10 ATP8A2 NM_016529.5(ATP8A2): c.3439C> T (p.Arg1147Trp) single nucleotide variant Uncertain significance rs371560228 GRCh37 Chromosome 13, 26586730: 26586730

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...

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