CMARQ3
MCID: CRB195
MIFTS: 20

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 (CMARQ3)

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 3:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 58 76 30 6 74
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 58 76 13
Ataxia, Cerebellar, and Mental Retardation with or Without Quadrupedal Locomotion, Type 3 41
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 76
Camrq3 58
Cmarq3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
one family has been reported


HPO:

33
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3:
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). (613227)

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including tremor and cerebellar ataxia. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 is CA8 (Carbonic Anhydrase 8). Related phenotypes are ataxia and dysarthria

UniProtKB/Swiss-Prot : 76 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3: 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 3 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 3:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 dysarthria 33 HP:0001260
3 tremor 33 HP:0001337
4 intellectual disability, mild 33 HP:0001256
5 strabismus 33 HP:0000486
6 slurred speech 33 HP:0001350

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
slurred speech
cerebellar ataxia
mental retardation, mild
more
Head And Neck Eyes:
strabismus

Clinical features from OMIM:

613227

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:


tremor, cerebellar ataxia

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

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3

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

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 30 CA8

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 3:

# Title Authors Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
2
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. ( 19461874 )
2009

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

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 CA8 p.Ser100Pro VAR_063634 rs267606695

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CA8 NM_004056.5(CA8): c.298T> C (p.Ser100Pro) single nucleotide variant Pathogenic rs267606695 GRCh37 Chromosome 8, 61178603: 61178603
2 CA8 NM_004056.5(CA8): c.298T> C (p.Ser100Pro) single nucleotide variant Pathogenic rs267606695 GRCh38 Chromosome 8, 60266044: 60266044
3 CA8 NM_004056.5(CA8): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic rs387906598 GRCh37 Chromosome 8, 61135236: 61135236
4 CA8 NM_004056.5(CA8): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic rs387906598 GRCh38 Chromosome 8, 60222677: 60222677
5 CA8 NM_004056.5(CA8): c.475A> T (p.Lys159Ter) single nucleotide variant Likely pathogenic rs79267946 GRCh37 Chromosome 8, 61144881: 61144881
6 CA8 NM_004056.5(CA8): c.475A> T (p.Lys159Ter) single nucleotide variant Likely pathogenic rs79267946 GRCh38 Chromosome 8, 60232322: 60232322
7 CA8 NM_004056.5(CA8): c.100+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 61193606: 61193606
8 CA8 NM_004056.5(CA8): c.100+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 60281047: 60281047

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

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3.

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 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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50 NCI
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55 NINDS
56 Novoseek
58 OMIM
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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