CAMRQ2
MCID: CRB136
MIFTS: 22

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 (CAMRQ2)

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 2:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 58 76 30 13 6 74
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 2 58 76
Camrq2 58 76
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2: A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including tremor, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 is WDR81 (WD Repeat Domain 81). Affiliated tissues include brain, and related phenotypes are dysarthria and tremor

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). (610185)

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 2 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 2:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 tremor 33 HP:0001337
3 coarse facial features 33 HP:0000280
4 global developmental delay 33 HP:0001263
5 delayed speech and language development 33 HP:0000750
6 short stature 33 HP:0004322
7 intellectual disability, severe 33 HP:0010864
8 strabismus 33 HP:0000486
9 short palm 33 HP:0004279
10 short foot 33 HP:0001773
11 dysmetria 33 HP:0001310
12 intellectual disability, progressive 33 HP:0006887
13 cerebellar hypoplasia 33 HP:0001321
14 small hand 33 HP:0200055
15 abnormality of the neck 33 HP:0000464
16 dysdiadochokinesis 33 HP:0002075
17 hyporeflexia 33 HP:0001265
18 truncal ataxia 33 HP:0002078
19 thoracic kyphosis 33 HP:0002942
20 cerebellar atrophy 33 HP:0001272
21 hypoplasia of the corpus callosum 33 HP:0002079
22 thoracic scoliosis 33 HP:0002943
23 hirsutism 33 HP:0001007
24 global brain atrophy 33 HP:0002283
25 aplasia of the inferior half of the cerebellar vermis 33 HP:0007063
26 atrophy of the dentate nucleus 33 HP:0007047

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
dysmetria
cerebellar hypoplasia
dysdiadochokinesis
more
Growth Height:
short stature

Skeletal Spine:
thoracic kyphosis
thoracic scoliosis
skull is flexed forward on the spine

Skeletal Hands:
small hands

Head And Neck Head:
head is flexed forward

Head And Neck Face:
coarse facial features

Head And Neck Eyes:
strabismus

Skin Nails Hair Hair:
hirsutism

Skeletal Feet:
small feet

Head And Neck Neck:
wide and short nape of the neck

Clinical features from OMIM:

610185

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:


tremor, dysdiadochokinesis, 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 2

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

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 30 WDR81

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

MalaCards organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

42
Brain

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 2:

76
# Symbol AA change Variation ID SNP ID
1 WDR81 p.Pro856Leu VAR_068220 rs587776906

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR81 NM_001163809.1(WDR81): c.2567C> T (p.Pro856Leu) single nucleotide variant Pathogenic rs587776906 GRCh37 Chromosome 17, 1630820: 1630820
2 WDR81 NM_001163809.1(WDR81): c.2567C> T (p.Pro856Leu) single nucleotide variant Pathogenic rs587776906 GRCh38 Chromosome 17, 1727526: 1727526
3 WDR81 NM_001163809.1(WDR81): c.4971A> G (p.Leu1657=) single nucleotide variant Benign/Likely benign rs3809872 GRCh37 Chromosome 17, 1637302: 1637302
4 WDR81 NM_001163809.1(WDR81): c.4971A> G (p.Leu1657=) single nucleotide variant Benign/Likely benign rs3809872 GRCh38 Chromosome 17, 1734008: 1734008
5 WDR81 NM_001163809.1(WDR81): c.5127G> A (p.Pro1709=) single nucleotide variant Benign/Likely benign rs8065251 GRCh37 Chromosome 17, 1637458: 1637458
6 WDR81 NM_001163809.1(WDR81): c.5127G> A (p.Pro1709=) single nucleotide variant Benign/Likely benign rs8065251 GRCh38 Chromosome 17, 1734164: 1734164
7 WDR81 NM_001163809.1(WDR81): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs138358708 GRCh37 Chromosome 17, 1634392: 1634392
8 WDR81 NM_001163809.1(WDR81): c.3997C> T (p.Arg1333Ter) single nucleotide variant Pathogenic rs138358708 GRCh38 Chromosome 17, 1731098: 1731098
9 WDR81 NM_001163809.1(WDR81): c.3085G> A (p.Ala1029Thr) single nucleotide variant Uncertain significance rs766140596 GRCh38 Chromosome 17, 1728044: 1728044
10 WDR81 NM_001163809.1(WDR81): c.3085G> A (p.Ala1029Thr) single nucleotide variant Uncertain significance rs766140596 GRCh37 Chromosome 17, 1631338: 1631338

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

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2.

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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