CAMRQ4
MCID: CRB141
MIFTS: 24

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 (CAMRQ4)

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 4:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 57 72 29 6 70
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 4 57 72
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 4 39
Camrq4 57
Cmarq4 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
one family has been reported (last curated june 2013)


HPO:

31
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 615268
OMIM Phenotypic Series 57 PS224050
UMLS 70 C3808977

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). (615268) (Updated 20-May-2021)

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including ataxia, truncal An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 is ATP8A2 (ATPase Phospholipid Transporting 8A2). Related phenotypes are intellectual disability and dysarthria

UniProtKB/Swiss-Prot : 72 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4: 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 4 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 4:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 dysarthria 31 HP:0001260
3 cerebellar atrophy 31 HP:0001272
4 cerebral atrophy 31 HP:0002059
5 inability to walk 31 HP:0002540
6 truncal ataxia 31 HP:0002078
7 corpus callosum atrophy 31 HP:0007371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
cerebral atrophy
inability to walk
truncal ataxia
more

Clinical features from OMIM®:

615268 (Updated 20-May-2021)

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:


ataxia, truncal

Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

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

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 29 ATP8A2

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 4:

# Title Authors PMID Year
1
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 57 6
22892528 2013
2
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 57 6
18326629 2008
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
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. 61
33079427 2020
8
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. 61
29531481 2018

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

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP8A2 NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) SNV Pathogenic 50946 rs546968533 GRCh37: 13:26128001-26128001
GRCh38: 13:25553863-25553863
2 ATP8A2 NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) Deletion Pathogenic 802914 rs1593326999 GRCh37: 13:26349073-26349073
GRCh38: 13:25774935-25774935
3 ATP8A2 NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) Deletion Pathogenic 976733 GRCh37: 13:26116089-26116099
GRCh38: 13:25541951-25541961
4 ATP8A2 NM_016529.6(ATP8A2):c.77-2A>G SNV Pathogenic 1033826 GRCh37: 13:26043113-26043113
GRCh38: 13:25468975-25468975
5 ATP8A2 NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) SNV Likely pathogenic 1029608 GRCh37: 13:26163784-26163784
GRCh38: 13:25589646-25589646
6 ATP8A2 NM_016529.6(ATP8A2):c.3469+1G>C SNV Likely pathogenic 1029609 GRCh37: 13:26586761-26586761
GRCh38: 13:26012623-26012623
7 ATP8A2 NM_016529.6(ATP8A2):c.1868-2A>G SNV Likely pathogenic 812083 GRCh37: 13:26153944-26153944
GRCh38: 13:25579806-25579806
8 ATP8A2 NM_016529.6(ATP8A2):c.210del (p.Asp70fs) Deletion Likely pathogenic 930222 GRCh37: 13:26043248-26043248
GRCh38: 13:25469110-25469110
9 ATP8A2 NM_016529.6(ATP8A2):c.1058-2A>G SNV Likely pathogenic 931002 GRCh37: 13:26127929-26127929
GRCh38: 13:25553791-25553791
10 ATP8A2 NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) SNV Likely pathogenic 800507 rs1593576872 GRCh37: 13:26153995-26153995
GRCh38: 13:25579857-25579857
11 ATP8A2 NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) SNV Likely pathogenic 800920 rs1304109530 GRCh37: 13:26151235-26151235
GRCh38: 13:25577097-25577097
12 ATP8A2 NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) SNV Likely pathogenic 800921 rs1593410369 GRCh37: 13:26402325-26402325
GRCh38: 13:25828187-25828187
13 ATP8A2 NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) Duplication Likely pathogenic 522073 rs1156904586 GRCh37: 13:26151253-26151254
GRCh38: 13:25577115-25577116
14 ATP8A2 NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) SNV Uncertain significance 522654 rs202017613 GRCh37: 13:26273432-26273432
GRCh38: 13:25699294-25699294
15 ATP8A2 NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) SNV Uncertain significance 431717 rs1171835963 GRCh37: 13:26402265-26402265
GRCh38: 13:25828127-25828127
16 ATP8A2 NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) SNV Uncertain significance 547903 rs202073376 GRCh37: 13:26043196-26043196
GRCh38: 13:25469058-25469058
17 ATP8A2 NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) SNV Uncertain significance 548590 rs371560228 GRCh37: 13:26586730-26586730
GRCh38: 13:26012592-26012592
18 ATP8A2 NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) SNV Uncertain significance 812080 GRCh37: 13:26343272-26343272
GRCh38: 13:25769134-25769134
19 ATP8A2 NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) SNV Uncertain significance 812081 GRCh37: 13:26133159-26133159
GRCh38: 13:25559021-25559021
20 ATP8A2 NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) SNV Uncertain significance 996952 GRCh37: 13:26413702-26413702
GRCh38: 13:25839564-25839564
21 ATP8A2 NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) SNV Uncertain significance 1029610 GRCh37: 13:26116148-26116148
GRCh38: 13:25542010-25542010
22 ATP8A2 NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) SNV Likely benign 994318 GRCh37: 13:26163795-26163795
GRCh38: 13:25589657-25589657

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

72
# Symbol AA change Variation ID SNP ID
1 ATP8A2 p.Ile376Met VAR_069928 rs546968533

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

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4.

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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