CAMRQ3
MCID: CRB195
MIFTS: 24

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 (CAMRQ3)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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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 71
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 3 73 28 5
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 57 12
Ataxia, Cerebellar, and Mental Retardation with/without Quadrupedal Locomotion, Type 3 38
Camrq3 57
Cmarq3 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
congenital onset
one family has been reported


Classifications:



External Ids:

OMIM® 57 613227
OMIM Phenotypic Series 57 PS224050
MedGen 40 C2750509
UMLS 71 C2750509

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) (Updated 08-Dec-2022)

MalaCards based summary: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3, is also known as cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3, 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). Affiliated tissues include cerebellum, brain and brain-cerebellum, and related phenotypes are ataxia and dysarthria

UniProtKB/Swiss-Prot: 73 An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability.

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

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

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

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 30 HP:0001251
2 dysarthria 30 HP:0001260
3 tremor 30 HP:0001337
4 intellectual disability, mild 30 HP:0001256
5 slurred speech 30 HP:0001350
6 strabismus 30 HP:0000486

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
tremor
slurred speech
cerebellar ataxia
mental retardation, mild
more
Head And Neck Eyes:
strabismus

Clinical features from OMIM®:

613227 (Updated 08-Dec-2022)

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, Intellectual Disability, and Dysequilibrium Syndrome 3 28 CA8

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

Organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3:

MalaCards : Cerebellum, Brain
ODiseA: Brain, Brain-Cerebellum

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

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

(show all 12)
# Title Authors PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 5
21937992 2011
2
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 57 5
19461874 2009
3
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 57
21885617 2011
4
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 57
18544652 2008
5
"Devolution" of bipedality. 57
18487453 2008
6
Genes and quadrupedal locomotion in humans. 57
18483196 2008
7
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 57
18326629 2008
8
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. 57
16118194 2005
9
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3. 62
32808436 2020
10
Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function. 62
32316137 2020
11
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 62
31693170 2020
12
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 62
22973972 2012

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

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CA8 NM_004056.6(CA8):c.298T>C (p.Ser100Pro) SNV Pathogenic
17604 rs267606695 GRCh37: 8:61178603-61178603
GRCh38: 8:60266044-60266044
2 CA8 NM_004056.6(CA8):c.710G>A (p.Arg237Gln) SNV Pathogenic
29620 rs387906598 GRCh37: 8:61135236-61135236
GRCh38: 8:60222677-60222677
3 CA8 NM_004056.6(CA8):c.475A>T (p.Lys159Ter) SNV Likely Pathogenic
522600 rs79267946 GRCh37: 8:61144881-61144881
GRCh38: 8:60232322-60232322
4 CA8 NM_004056.6(CA8):c.100+1G>A SNV Likely Pathogenic
560540 rs1563390893 GRCh37: 8:61193606-61193606
GRCh38: 8:60281047-60281047
5 CA8 NM_004056.6(CA8):c.730dup (p.Gln244fs) DUP Likely Pathogenic
931983 rs1807291595 GRCh37: 8:61135215-61135216
GRCh38: 8:60222656-60222657
6 CA8 NM_004056.6(CA8):c.100+85T>C SNV Benign
1192673 GRCh37: 8:61193522-61193522
GRCh38: 8:60280963-60280963
7 CA8 NM_004056.6(CA8):c.-54A>C SNV Benign
1192674 GRCh37: 8:61193760-61193760
GRCh38: 8:60281201-60281201
8 CA8 NM_004056.6(CA8):c.-103T>C SNV Benign
1192675 GRCh37: 8:61193809-61193809
GRCh38: 8:60281250-60281250
9 CA8 NM_004056.6(CA8):c.327A>G (p.Glu109=) SNV Benign
128540 rs7464181 GRCh37: 8:61178574-61178574
GRCh38: 8:60266015-60266015

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

73
# Symbol AA change Variation ID SNP ID
1 CA8 p.Ser100Pro VAR_063634 rs267606695

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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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