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 57 75 29 13 6 73
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 2 57 75
Camrq2 57 75
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
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 : 75 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 : 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). (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 11.1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 tremor 32 HP:0001337
3 coarse facial features 32 HP:0000280
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 short stature 32 HP:0004322
7 intellectual disability, severe 32 HP:0010864
8 strabismus 32 HP:0000486
9 short palm 32 HP:0004279
10 short foot 32 HP:0001773
11 dysmetria 32 HP:0001310
12 intellectual disability, progressive 32 HP:0006887
13 cerebellar hypoplasia 32 HP:0001321
14 small hand 32 HP:0200055
15 abnormality of the neck 32 HP:0000464
16 dysdiadochokinesis 32 HP:0002075
17 hyporeflexia 32 HP:0001265
18 truncal ataxia 32 HP:0002078
19 thoracic kyphosis 32 HP:0002942
20 cerebellar atrophy 32 HP:0001272
21 hypoplasia of the corpus callosum 32 HP:0002079
22 thoracic scoliosis 32 HP:0002943
23 hirsutism 32 HP:0001007
24 global brain atrophy 32 HP:0002283
25 aplasia of the inferior half of the cerebellar vermis 32 HP:0007063
26 atrophy of the dentate nucleus 32 HP:0007047

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 29 WDR81

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

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

41
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:

75
# 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...

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....