Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615268

OMIM Phenotypic Series ⁵⁷ PS224050

MeSH ⁴³ D002524 D008607

MedGen ⁴⁰ C3808977 CN176751

SNOMED-CT via HPO ⁶⁹ 228156007 247578003 250067008 more

UMLS ⁷¹ C3808977

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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.

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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

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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 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

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

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

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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

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

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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	Onat OE...Ozcelik T	22892528	2013
2	Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. ⁵⁷ ⁵	Ozcelik T...Tan U	18326629	2008
3	Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. ⁵⁷	Gulsuner S...Ozcelik T	21885617	2011
4	Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. ⁵⁷	Ozcelik T...Tan U	18544652	2008
5	"Devolution" of bipedality. ⁵⁷	Herz J...Parboosingh JS	18487453	2008
6	Genes and quadrupedal locomotion in humans. ⁵⁷	Humphrey N...Turkmen S	18483196	2008
7	Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. ⁶²	Narishige Y...Haginoya K	35321980	2022
8	A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. ⁶²	Mohamadian M...Momen AA	33079427	2020
9	Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. ⁶²	Alsahli S...Alfadhel M	29531481	2018

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

Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	1375	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ Likely pathogenic ⁵	22892528 18326629

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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

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

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

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

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GO Terms for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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CAMRQ4 MCID: CRB141 MIFTS: 24	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 (CAMRQ4) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

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

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

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

Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:

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

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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

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

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:

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

Genes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 (1 elite genes):

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

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

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

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

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...