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 57 75 29 6 73
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 57 75 13
Ataxia, Cerebellar, and Mental Retardation with or Without Quadrupedal Locomotion, Type 3 40
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 75
Camrq3 57
Cmarq3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
one family has been reported


HPO:

32
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 : 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). (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 : 75 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 11.1

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
slurred speech
mental retardation, mild
cerebellar ataxia
more
Head And Neck Eyes:
strabismus


Clinical features from OMIM:

613227

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 intellectual disability, mild 32 HP:0001256
5 strabismus 32 HP:0000486
6 slurred speech 32 HP:0001350

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 29 CA8

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 3:

75
# 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 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
Content
Loading form....