CAMRQ2
MCID: CRB136
MIFTS: 28

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 72 29 13 6 70
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 2 57 72
Camrq2 57 72
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



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

UniProtKB/Swiss-Prot : 72 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) (Updated 20-May-2021)

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 11.0

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

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

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 tremor 31 HP:0001337
3 coarse facial features 31 HP:0000280
4 global developmental delay 31 HP:0001263
5 delayed speech and language development 31 HP:0000750
6 short stature 31 HP:0004322
7 intellectual disability, severe 31 HP:0010864
8 strabismus 31 HP:0000486
9 intellectual disability, progressive 31 HP:0006887
10 abnormality of the neck 31 HP:0000464
11 dysmetria 31 HP:0001310
12 dysdiadochokinesis 31 HP:0002075
13 hyporeflexia 31 HP:0001265
14 small hand 31 HP:0200055
15 cerebellar hypoplasia 31 HP:0001321
16 short foot 31 HP:0001773
17 hypoplasia of the corpus callosum 31 HP:0002079
18 cerebellar atrophy 31 HP:0001272
19 short palm 31 HP:0004279
20 hirsutism 31 HP:0001007
21 thoracic scoliosis 31 HP:0002943
22 thoracic kyphosis 31 HP:0002942
23 truncal ataxia 31 HP:0002078
24 global brain atrophy 31 HP:0002283
25 atrophy of the dentate nucleus 31 HP:0007047
26 aplasia of the inferior half of the cerebellar vermis 31 HP:0007063

Symptoms via clinical synopsis from OMIM®:

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

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:

40
Brain

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

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

(show all 16)
# 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 6
26437881 2016
2
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 57 6
21885617 2011
3
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. 57 6
16371500 2006
4
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57
25558065 2015
5
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 57
18544652 2008
6
"Devolution" of bipedality. 57
18487453 2008
7
Genes and quadrupedal locomotion in humans. 57
18483196 2008
8
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 57
18326629 2008
9
A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism. 57
17613106 2007
10
A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. 57
16484061 2006
11
WDR81 regulates adult hippocampal neurogenesis through endosomal SARA-TGFβ signaling. 61
30531936 2021
12
The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy. 61
28404643 2017
13
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). 61
27390838 2015
14
WDR81 is necessary for purkinje and photoreceptor cell survival. 61
23595742 2013
15
Neuro-ophthalmologic findings in humans with quadrupedal locomotion. 61
22686558 2012
16
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 61
22973972 2012

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

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

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR81 NM_001163809.1(WDR81):c.3997C>T (p.Arg1333Ter) SNV Pathogenic 224836 rs138358708 GRCh37: 17:1634392-1634392
GRCh38: 17:1731098-1731098
2 WDR81 NM_001163809.2(WDR81):c.3097del (p.Glu1033fs) Deletion Pathogenic 1030236 GRCh37: 17:1631349-1631349
GRCh38: 17:1728055-1728055
3 WDR81 NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) SNV Pathogenic 984714 GRCh37: 17:1639342-1639342
GRCh38: 17:1736048-1736048
4 WDR81 NM_001163809.1(WDR81):c.2567C>T (p.Pro856Leu) SNV Pathogenic 31611 rs587776906 GRCh37: 17:1630820-1630820
GRCh38: 17:1727526-1727526
5 WDR81 NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) SNV Uncertain significance 982857 GRCh37: 17:1630160-1630160
GRCh38: 17:1726866-1726866
6 WDR81 NM_001163809.1(WDR81):c.5314C>T (p.Pro1772Ser) SNV Uncertain significance 634455 rs144021458 GRCh37: 17:1639000-1639000
GRCh38: 17:1735706-1735706
7 WDR81 NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) SNV Uncertain significance 982855 GRCh37: 17:1628735-1628735
GRCh38: 17:1725441-1725441
8 WDR81 NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) SNV Uncertain significance 1029177 GRCh37: 17:1629325-1629325
GRCh38: 17:1726031-1726031
9 WDR81 NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) SNV Uncertain significance 1029178 GRCh37: 17:1629410-1629410
GRCh38: 17:1726116-1726116
10 WDR81 NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) SNV Uncertain significance 1030235 GRCh37: 17:1629727-1629727
GRCh38: 17:1726433-1726433
11 WDR81 NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) SNV Uncertain significance 1030237 GRCh37: 17:1637358-1637358
GRCh38: 17:1734064-1734064
12 WDR81 NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) SNV Uncertain significance 1031890 GRCh37: 17:1630304-1630304
GRCh38: 17:1727010-1727010
13 WDR81 NM_001163809.1(WDR81):c.3115G>A (p.Ala1039Thr) SNV Uncertain significance 377255 rs369748157 GRCh37: 17:1631368-1631368
GRCh38: 17:1728074-1728074
14 WDR81 NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) SNV Uncertain significance 1031891 GRCh37: 17:1634127-1634127
GRCh38: 17:1730833-1730833
15 WDR81 NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) SNV Uncertain significance 1031893 GRCh37: 17:1638934-1638934
GRCh38: 17:1735640-1735640
16 WDR81 NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) SNV Uncertain significance 1031894 GRCh37: 17:1640812-1640812
GRCh38: 17:1737518-1737518
17 WDR81 NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) SNV Uncertain significance 1031895 GRCh37: 17:1629079-1629079
GRCh38: 17:1725785-1725785
18 WDR81 NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) SNV Uncertain significance 1033757 GRCh37: 17:1630203-1630203
GRCh38: 17:1726909-1726909
19 WDR81 NM_001163809.1(WDR81):c.3085G>A (p.Ala1029Thr) SNV Uncertain significance 547902 rs766140596 GRCh37: 17:1631338-1631338
GRCh38: 17:1728044-1728044
20 WDR81 NM_001163809.1(WDR81):c.3532G>A (p.Ala1178Thr) SNV Uncertain significance 235691 rs151330612 GRCh37: 17:1631785-1631785
GRCh38: 17:1728491-1728491
21 WDR81 NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys) SNV Likely benign 977836 GRCh37: 17:1630420-1630420
GRCh38: 17:1727126-1727126
22 WDR81 NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) SNV Likely benign 808188 rs141491316 GRCh37: 17:1635776-1635776
GRCh38: 17:1732482-1732482
23 WDR81 NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr) SNV Likely benign 977894 GRCh37: 17:1634480-1634480
GRCh38: 17:1731186-1731186
24 WDR81 NM_001163809.1(WDR81):c.4602C>T (p.Thr1534=) SNV Likely benign 741172 rs140513521 GRCh37: 17:1636933-1636933
GRCh38: 17:1733639-1733639
25 WDR81 NM_001163809.1(WDR81):c.2254C>T (p.Pro752Ser) SNV Likely benign 708421 rs200781463 GRCh37: 17:1630507-1630507
GRCh38: 17:1727213-1727213
26 WDR81 NM_001163809.1(WDR81):c.4971A>G (p.Leu1657=) SNV Benign 130741 rs3809872 GRCh37: 17:1637302-1637302
GRCh38: 17:1734008-1734008
27 WDR81 NM_001163809.1(WDR81):c.5127G>A (p.Pro1709=) SNV Benign 130742 rs8065251 GRCh37: 17:1637458-1637458
GRCh38: 17:1734164-1734164
28 WDR81 NM_001163809.1(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:

72
# 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...

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45 MESH via Orphanet
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71 UMLS via Orphanet
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