CAMRQ4
MCID: CRB141
MIFTS: 24

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

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 4:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 57 71
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 4 73 28 5
Camrq4 57 73
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 4 57
Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 4 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth
one family has been reported (last curated june 2013)


Classifications:



External Ids:

OMIM® 57 615268
OMIM Phenotypic Series 57 PS224050
UMLS 71 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 08-Dec-2022)

MalaCards based summary: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4, is also known as cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4, 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: 73 An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability.

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 4:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 dysarthria 30 HP:0001260
3 cerebellar atrophy 30 HP:0001272
4 cerebral atrophy 30 HP:0002059
5 truncal ataxia 30 HP:0002078
6 inability to walk 30 HP:0002540
7 corpus callosum atrophy 30 HP:0007371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
cerebral atrophy
truncal ataxia
inability to walk
more

Clinical features from OMIM®:

615268 (Updated 08-Dec-2022)

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, Intellectual Disability, and Dysequilibrium Syndrome 4 28 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 5
22892528 2013
2
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 57 5
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
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. 62
35321980 2022
8
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. 62
33079427 2020
9
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. 62
29531481 2018

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

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

5 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP8A2 NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) DEL Pathogenic
802914 rs1593326999 GRCh37: 13:26349073-26349073
GRCh38: 13:25774935-25774935
2 ATP8A2 NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) SNV Pathogenic
50946 rs546968533 GRCh37: 13:26128001-26128001
GRCh38: 13:25553863-25553863
3 ATP8A2 NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) DEL Pathogenic
976733 rs2038491713 GRCh37: 13:26116089-26116099
GRCh38: 13:25541951-25541961
4 ATP8A2 NM_016529.6(ATP8A2):c.77-2A>G SNV Pathogenic
1033826 rs373909734 GRCh37: 13:26043113-26043113
GRCh38: 13:25468975-25468975
5 ATP8A2 NM_016529.6(ATP8A2):c.2212-1G>C SNV Pathogenic
1323981 GRCh37: 13:26273310-26273310
GRCh38: 13:25699172-25699172
6 ATP8A2 NM_016529.6(ATP8A2):c.709del (p.Thr237fs) DEL Pathogenic
1526029 GRCh37: 13:26116113-26116113
GRCh38: 13:25541975-25541975
7 ATP8A2 NM_016529.6(ATP8A2):c.1474-2del DEL Likely Pathogenic
1323963 GRCh37: 13:26144903-26144903
GRCh38: 13:25570765-25570765
8 ATP8A2 NM_016529.6(ATP8A2):c.3272+1G>A SNV Likely Pathogenic
1323964 GRCh37: 13:26535802-26535802
GRCh38: 13:25961664-25961664
9 ATP8A2 NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) SNV Likely Pathogenic
1029608 rs1566306570 GRCh37: 13:26163784-26163784
GRCh38: 13:25589646-25589646
10 ATP8A2 NM_016529.6(ATP8A2):c.3469+1G>C SNV Likely Pathogenic
1029609 rs763272441 GRCh37: 13:26586761-26586761
GRCh38: 13:26012623-26012623
11 ATP8A2 NM_016529.6(ATP8A2):c.1868-2A>G SNV Likely Pathogenic
812083 rs2039720333 GRCh37: 13:26153944-26153944
GRCh38: 13:25579806-25579806
12 ATP8A2 NM_016529.6(ATP8A2):c.518del (p.Gly173fs) DEL Likely Pathogenic
1526205 GRCh37: 13:26112134-26112134
GRCh38: 13:25537996-25537996
13 ATP8A2 NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) SNV Likely Pathogenic
429349 rs755133567 GRCh37: 13:26151250-26151250
GRCh38: 13:25577112-25577112
14 ATP8A2 NM_016529.6(ATP8A2):c.210del (p.Asp70fs) DEL Likely Pathogenic
930222 rs2035763126 GRCh37: 13:26043248-26043248
GRCh38: 13:25469110-25469110
15 ATP8A2 NM_016529.6(ATP8A2):c.1058-2A>G SNV Likely Pathogenic
931002 rs1304832284 GRCh37: 13:26127929-26127929
GRCh38: 13:25553791-25553791
16 ATP8A2 NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) SNV Likely Pathogenic
800507 rs1593576872 GRCh37: 13:26153995-26153995
GRCh38: 13:25579857-25579857
17 ATP8A2 NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) SNV Likely Pathogenic
800920 rs1304109530 GRCh37: 13:26151235-26151235
GRCh38: 13:25577097-25577097
18 ATP8A2 NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) SNV Likely Pathogenic
800921 rs1593410369 GRCh37: 13:26402325-26402325
GRCh38: 13:25828187-25828187
19 ATP8A2 NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) DUP Likely Pathogenic
522073 rs1156904586 GRCh37: 13:26151253-26151254
GRCh38: 13:25577115-25577116
20 ATP8A2 NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) SNV Uncertain Significance
812080 rs796952533 GRCh37: 13:26343272-26343272
GRCh38: 13:25769134-25769134
21 ATP8A2 NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) SNV Uncertain Significance
812081 rs2039065206 GRCh37: 13:26133159-26133159
GRCh38: 13:25559021-25559021
22 ATP8A2 NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) SNV Uncertain Significance
1184354 GRCh37: 13:26154054-26154054
GRCh38: 13:25579916-25579916
23 ATP8A2 NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) SNV Uncertain Significance
996952 rs202061089 GRCh37: 13:26413702-26413702
GRCh38: 13:25839564-25839564
24 ATP8A2 NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) SNV Uncertain Significance
431717 rs1171835963 GRCh37: 13:26402265-26402265
GRCh38: 13:25828127-25828127
25 ATP8A2 NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) SNV Uncertain Significance
522654 rs202017613 GRCh37: 13:26273432-26273432
GRCh38: 13:25699294-25699294
26 ATP8A2 NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) SNV Uncertain Significance
548590 rs371560228 GRCh37: 13:26586730-26586730
GRCh38: 13:26012592-26012592
27 ATP8A2 NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) SNV Uncertain Significance
547903 rs202073376 GRCh37: 13:26043196-26043196
GRCh38: 13:25469058-25469058
28 ATP8A2 NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) SNV Uncertain Significance
1301742 GRCh37: 13:26148948-26148948
GRCh38: 13:25574810-25574810
29 ATP8A2 NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) SNV Uncertain Significance
1029610 rs200449118 GRCh37: 13:26116148-26116148
GRCh38: 13:25542010-25542010
30 ATP8A2 NM_016529.6(ATP8A2):c.3273-3C>G SNV Uncertain Significance
1526185 GRCh37: 13:26542710-26542710
GRCh38: 13:25968572-25968572
31 ATP8A2 NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) SNV Uncertain Significance
1339193 GRCh37: 13:26273413-26273413
GRCh38: 13:25699275-25699275
32 ATP8A2 NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) SNV Likely Benign
994318 rs41300574 GRCh37: 13:26163795-26163795
GRCh38: 13:25589657-25589657
33 ATP8A2 NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) SNV Benign
128489 rs6491066 GRCh37: 13:26148966-26148966
GRCh38: 13:25574828-25574828
34 ATP8A2 NM_016529.6(ATP8A2):c.2008-4G>C SNV Benign
1168538 GRCh37: 13:26155953-26155953
GRCh38: 13:25581815-25581815
35 ATP8A2 NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) SNV Benign
128490 rs6491088 GRCh37: 13:26273385-26273385
GRCh38: 13:25699247-25699247
36 ATP8A2 NM_016529.6(ATP8A2):c.1185+71A>G SNV Benign
1192486 GRCh37: 13:26128129-26128129
GRCh38: 13:25553991-25553991
37 ATP8A2 NM_016529.6(ATP8A2):c.2384+55C>T SNV Benign
1192487 GRCh37: 13:26273538-26273538
GRCh38: 13:25699400-25699400
38 ATP8A2 NM_016529.6(ATP8A2):c.3183+95C>T SNV Benign
1192488 GRCh37: 13:26436641-26436641
GRCh38: 13:25862503-25862503
39 ATP8A2 NM_016529.6(ATP8A2):c.3184-88G>A SNV Benign
1192489 GRCh37: 13:26535625-26535625
GRCh38: 13:25961487-25961487

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

73
# 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...

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72 UMLS via Orphanet
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