CAMRQ3
MCID: CRB195
MIFTS: 23

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

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 72 29 6 70
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 57 72 13
Ataxia, Cerebellar, and Mental Retardation with or Without Quadrupedal Locomotion, Type 3 39
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 72
Camrq3 57
Cmarq3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
congenital onset
one family has been reported

Inheritance:
autosomal recessive


HPO:

31
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 613227
OMIM Phenotypic Series 57 PS224050
MedGen 41 C2750509
UMLS 70 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 20-May-2021)

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 : 72 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 11.0

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dysarthria 31 HP:0001260
3 tremor 31 HP:0001337
4 intellectual disability, mild 31 HP:0001256
5 slurred speech 31 HP:0001350
6 strabismus 31 HP:0000486

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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...

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

# Title Authors PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
2
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 6 57
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
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 61
31693170 2020

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

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

6
# 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) Duplication Likely pathogenic 931983 GRCh37: 8:61135215-61135216
GRCh38: 8:60222656-60222657

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

72
# 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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