CAMRQ2
MCID: CRB136
MIFTS: 28

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

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 2:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 57 71
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 2 73 28 5
Camrq2 57 73
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 2 57
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 2 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy


Classifications:



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

UniProtKB/Swiss-Prot: 73 An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, 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, is also known as cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2, 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, cerebellum and brain-cerebellum, 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) (Updated 08-Dec-2022)

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 2:

30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 30 HP:0001260
2 tremor 30 HP:0001337
3 coarse facial features 30 HP:0000280
4 global developmental delay 30 HP:0001263
5 delayed speech and language development 30 HP:0000750
6 short stature 30 HP:0004322
7 intellectual disability, severe 30 HP:0010864
8 strabismus 30 HP:0000486
9 abnormality of the neck 30 HP:0000464
10 dysmetria 30 HP:0001310
11 dysdiadochokinesis 30 HP:0002075
12 hyporeflexia 30 HP:0001265
13 small hand 30 HP:0200055
14 intellectual disability, progressive 30 HP:0006887
15 cerebellar hypoplasia 30 HP:0001321
16 short foot 30 HP:0001773
17 cerebellar atrophy 30 HP:0001272
18 short palm 30 HP:0004279
19 hirsutism 30 HP:0001007
20 hypoplasia of the corpus callosum 30 HP:0002079
21 thoracic scoliosis 30 HP:0002943
22 thoracic kyphosis 30 HP:0002942
23 truncal ataxia 30 HP:0002078
24 global brain atrophy 30 HP:0002283
25 atrophy of the dentate nucleus 30 HP:0007047
26 aplasia of the inferior half of the cerebellar vermis 30 HP:0007063

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
tremor
dysmetria
dysdiadochokinesis
hyporeflexia
more
Growth Height:
short stature

Skin Nails Hair Hair:
hirsutism

Skeletal Hands:
small hands

Head And Neck Head:
head is flexed forward

Head And Neck Face:
coarse facial features

Head And Neck Eyes:
strabismus

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

Skeletal Feet:
small feet

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

Clinical features from OMIM®:

610185 (Updated 08-Dec-2022)

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, Intellectual Disability, and Dysequilibrium Syndrome 2 28 WDR81

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

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

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

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

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

(show all 17)
# Title Authors PMID Year
1
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 57 5
26437881 2016
2
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 57 5
21885617 2011
3
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. 57 5
16371500 2006
4
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. 5
28969387 2017
5
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57
25558065 2015
6
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 57
18544652 2008
7
Genes and quadrupedal locomotion in humans. 57
18483196 2008
8
"Devolution" of bipedality. 57
18487453 2008
9
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 57
18326629 2008
10
A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism. 57
17613106 2007
11
A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. 57
16484061 2006
12
WDR81 regulates adult hippocampal neurogenesis through endosomal SARA-TGFβ signaling. 62
30531936 2021
13
The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy. 62
28404643 2017
14
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). 62
27390838 2015
15
WDR81 is necessary for purkinje and photoreceptor cell survival. 62
23595742 2013
16
Neuro-ophthalmologic findings in humans with quadrupedal locomotion. 62
22686558 2012
17
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 2:

5 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR81 NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) SNV Pathogenic
984714 rs762607878 GRCh37: 17:1639342-1639342
GRCh38: 17:1736048-1736048
2 WDR81 NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) SNV Pathogenic
224836 rs138358708 GRCh37: 17:1634392-1634392
GRCh38: 17:1731098-1731098
3 WDR81 NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) SNV Pathogenic
31611 rs587776906 GRCh37: 17:1630820-1630820
GRCh38: 17:1727526-1727526
4 WDR81 NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) DUP Likely Pathogenic
1696176 GRCh37: 17:1629610-1629611
GRCh38: 17:1726316-1726317
5 WDR81 NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) SNV Uncertain Significance
1031890 rs748793270 GRCh37: 17:1630304-1630304
GRCh38: 17:1727010-1727010
6 WDR81 NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) SNV Uncertain Significance
547902 rs766140596 GRCh37: 17:1631338-1631338
GRCh38: 17:1728044-1728044
7 WDR81 NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) SNV Uncertain Significance
982855 rs374149596 GRCh37: 17:1628735-1628735
GRCh38: 17:1725441-1725441
8 WDR81 NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) SNV Uncertain Significance
982857 rs1203128651 GRCh37: 17:1630160-1630160
GRCh38: 17:1726866-1726866
9 WDR81 NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) SNV Uncertain Significance
596303 rs150798889 GRCh37: 17:1629298-1629298
GRCh38: 17:1726004-1726004
10 WDR81 NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) SNV Uncertain Significance
1701671 GRCh37: 17:1630747-1630747
GRCh38: 17:1727453-1727453
11 WDR81 NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) SNV Uncertain Significance
235691 rs151330612 GRCh37: 17:1631785-1631785
GRCh38: 17:1728491-1728491
12 WDR81 NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) SNV Uncertain Significance
1029177 rs780969097 GRCh37: 17:1629325-1629325
GRCh38: 17:1726031-1726031
13 WDR81 NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) SNV Uncertain Significance
1029178 rs1915232687 GRCh37: 17:1629410-1629410
GRCh38: 17:1726116-1726116
14 WDR81 NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) SNV Uncertain Significance
1030235 rs992608564 GRCh37: 17:1629727-1629727
GRCh38: 17:1726433-1726433
15 WDR81 NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) SNV Uncertain Significance
1030237 rs746252411 GRCh37: 17:1637358-1637358
GRCh38: 17:1734064-1734064
16 WDR81 NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) SNV Uncertain Significance
377255 rs369748157 GRCh37: 17:1631368-1631368
GRCh38: 17:1728074-1728074
17 WDR81 NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) SNV Uncertain Significance
1031891 rs199995527 GRCh37: 17:1634127-1634127
GRCh38: 17:1730833-1730833
18 WDR81 NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) SNV Uncertain Significance
1031893 rs150784268 GRCh37: 17:1638934-1638934
GRCh38: 17:1735640-1735640
19 WDR81 NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) SNV Uncertain Significance
1031894 rs200284291 GRCh37: 17:1640812-1640812
GRCh38: 17:1737518-1737518
20 WDR81 NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) SNV Uncertain Significance
1031895 rs886540540 GRCh37: 17:1629079-1629079
GRCh38: 17:1725785-1725785
21 WDR81 NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) SNV Uncertain Significance
1033757 rs1915315281 GRCh37: 17:1630203-1630203
GRCh38: 17:1726909-1726909
22 WDR81 NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) SNV Uncertain Significance
1679614 GRCh37: 17:1637109-1637109
GRCh38: 17:1733815-1733815
23 WDR81 NM_001163809.2(WDR81):c.5179+6C>T SNV Uncertain Significance
1679615 GRCh37: 17:1637516-1637516
GRCh38: 17:1734222-1734222
24 WDR81 NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) SNV Uncertain Significance
634455 rs144021458 GRCh37: 17:1639000-1639000
GRCh38: 17:1735706-1735706
25 WDR81 NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) SNV Likely Benign
808188 rs141491316 GRCh37: 17:1635776-1635776
GRCh38: 17:1732482-1732482
26 WDR81 NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser) SNV Likely Benign
708421 rs200781463 GRCh37: 17:1630507-1630507
GRCh38: 17:1727213-1727213
27 WDR81 NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys) SNV Likely Benign
977836 GRCh37: 17:1630420-1630420
GRCh38: 17:1727126-1727126
28 WDR81 NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr) SNV Likely Benign
977894 GRCh37: 17:1634480-1634480
GRCh38: 17:1731186-1731186
29 WDR81 NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) SNV Likely Benign
741172 rs140513521 GRCh37: 17:1636933-1636933
GRCh38: 17:1733639-1733639
30 WDR81 NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) SNV Benign
130741 rs3809872 GRCh37: 17:1637302-1637302
GRCh38: 17:1734008-1734008
31 WDR81 NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) SNV Benign
130742 rs8065251 GRCh37: 17:1637458-1637458
GRCh38: 17:1734164-1734164
32 WDR81 NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) SNV Benign
130737 rs9912287 GRCh37: 17:1630992-1630992
GRCh38: 17:1727698-1727698
33 WDR81 NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) SNV Benign
130740 rs3809871 GRCh37: 17:1637074-1637074
GRCh38: 17:1733780-1733780
34 WDR81 NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) SNV Benign
130745 rs1045794 GRCh37: 17:1640709-1640709
GRCh38: 17:1737415-1737415
35 WDR81 NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) SNV Benign
130746 rs8077638 GRCh37: 17:1640793-1640793
GRCh38: 17:1737499-1737499
36 WDR81 NM_001163809.2(WDR81):c.5506-19C>G SNV Benign
1185334 GRCh37: 17:1640640-1640640
GRCh38: 17:1737346-1737346
37 WDR81 NM_001163809.2(WDR81):c.*56A>G SNV Benign
1185335 GRCh37: 17:1641035-1641035
GRCh38: 17:1737741-1737741
38 WDR81 NM_001163809.2(WDR81):c.626C>A (p.Pro209His) SNV Not Provided
732182 rs200343855 GRCh37: 17:1628879-1628879
GRCh38: 17:1725585-1725585
39 WDR81 NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) SNV Not Provided
684558 rs151078477 GRCh37: 17:1640735-1640735
GRCh38: 17:1737441-1737441

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 WDR81 p.Pro856Leu VAR_068220 rs587776906

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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
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27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
45 MGI
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49 NCIt
50 NDF-RT
52 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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