Cerebellar Ataxia, Nonprogressive, with Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CANPMR MCID: CRB139 MIFTS: 38	Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards integrated aliases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Name: Cerebellar Ataxia, Nonprogressive, with Mental Retardation ⁵⁸ ³⁰ ¹³ ⁶ ⁷⁴

Nonprogressive Cerebellar Ataxia with Mental Retardation ¹² ³⁸ ¹⁵

Canpmr ⁵⁸ ⁷⁶

Non-Progressive Cerebellar Ataxia with Intellectual Disability ⁶⁰

Cerebellar Ataxia, Non-Progressive, with Mental Retardation ⁷⁶

Ataxia, Cerebellar, Nonprogressive, with Mental Retardation ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

non-progressive cerebellar ataxia with intellectual disability
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
dysmorphic facial features are variable
ataxia is nonprogressive

HPO:

³³

cerebellar ataxia, nonprogressive, with mental retardation:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Congenital nonprogressive ataxia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050998

OMIM ⁵⁸ 614756

KEGG ³⁸ H02273

MeSH ⁴⁵ D002524 D008607

ICD10 via Orphanet ³⁵ G11.0

Orphanet ⁶⁰ ORPHA314647

MedGen ⁴³ C3553661 CN142515

SNOMED-CT via HPO ⁷⁰ 128602000 128613002 14582003 more

UMLS ⁷⁴ C3553661

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Summaries for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

OMIM : ⁵⁸ Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012). (614756)

MalaCards based summary : Cerebellar Ataxia, Nonprogressive, with Mental Retardation, also known as nonprogressive cerebellar ataxia with mental retardation, is related to chromosome 1p32-p31 deletion syndrome and lissencephaly with cerebellar hypoplasia, and has symptoms including ataxia An important gene associated with Cerebellar Ataxia, Nonprogressive, with Mental Retardation is CAMTA1 (Calmodulin Binding Transcription Activator 1), and among its related pathways/superpathways are Reelin Pathway (Cajal-Retzius cells) and Guidance Cues and Growth Cone Motility. Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, mild

Disease Ontology : ¹² A cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has material basis in autosomal dominant inheritance of mutation in the CAMTA1 gene.

UniProtKB/Swiss-Prot : ⁷⁶ Cerebellar ataxia, non-progressive, with mental retardation: A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.

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Related Diseases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	chromosome 1p32-p31 deletion syndrome	30.1	CAMTA1 NFIA
2	lissencephaly with cerebellar hypoplasia	9.9	RELN VLDLR
3	lissencephaly	9.8	RELN VLDLR
4	neuronal migration disorders	9.8	RELN VLDLR
5	aceruloplasminemia	9.7	VLDLR WDR81
6	cerebellar hypoplasia	9.7	RELN VLDLR WDR81
7	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	9.5	CA8 VLDLR WDR81
8	cerebellar ataxia, mental retardation and dysequlibrium syndrome	9.5	CA8 VLDLR WDR81

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

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Symptoms & Phenotypes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Human phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁶⁰ ³³ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001263
2	intellectual disability, mild ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001256
3	dysarthria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001260
4	constipation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002019
5	delayed speech and language development ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000750
6	anteverted nares ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000463
7	neonatal hypotonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001319
8	long philtrum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000343
9	thick lower lip vermilion ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000179
10	strabismus ⁶⁰ ³³	occasional (7.5%)	Frequent (79-30%)	HP:0000486
11	dysmetria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001310
12	memory impairment ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002354
13	cerebellar hypoplasia ⁶⁰ ³³	occasional (7.5%)	Frequent (79-30%)	HP:0001321
14	deeply set eye ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000490
15	aggressive behavior ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000718
16	long face ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000276
17	bulbous nose ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000414
18	pointed chin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000307
19	abnormal social behavior ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0012433
20	wide nose ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000445
21	autistic behavior ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000729
22	unsteady gait ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002317
23	abnormal cortical gyration ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002536
24	nonprogressive cerebellar ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002470
25	segmental myoclonic seizures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0025191
26	palpebral edema ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0100540
27	narrow mouth ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0000160
28	large forehead ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0002003
29	short ear ⁶⁰ ³³	occasional (7.5%)	Very rare (<4-1%)	HP:0400005
30	macrocephaly ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0000256
31	abnormal pyramidal sign ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0007256
32	intention tremor ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0002080
33	cerebral cortical atrophy ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0002120
34	brisk reflexes ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0001348
35	mesiodens ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0011067
36	hypoplastic hippocampus ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0025517
37	hypertelorism ³³			HP:0000316
38	low-set ears ³³			HP:0000369
39	nystagmus ⁶⁰		Excluded (0%)
40	seizures ³³			HP:0001250
41	ataxia ⁶⁰		Frequent (79-30%)
42	gastroesophageal reflux ³³			HP:0002020
43	protruding ear ³³			HP:0000411
44	broad forehead ³³			HP:0000337
45	downslanted palpebral fissures ³³			HP:0000494
46	hyperactivity ³³			HP:0000752
47	positive romberg sign ⁶⁰		Excluded (0%)
48	poor motor coordination ³³			HP:0002275
49	hippocampal atrophy ³³			HP:0410170

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
strabismus (in some patients)
palpebral edema (in 1 family)

Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
cerebellar hypoplasia
unsteady gait
more

Head And Neck Face:
long philtrum
long face
pointed chin

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
behavioral difficulties (in some patients)
attention-deficit

Head And Neck Mouth:
small mouth
thick lower lip

Head And Neck Teeth:
abnormally implanted teeth (in 1 family)

Head And Neck Ears:
low-set ears
prominent ears
short ears

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Head And Neck Head:
broad forehead
large forehead

Head And Neck Nose:
bulbous nose
anteverted nostrils
wide flat nose

Muscle Soft Tissue:
hypotonia, neonatal

Clinical features from OMIM:

614756

UMLS symptoms related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

ataxia

MGI Mouse Phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.63	CA8 CAMTA1 NFIA RELN VLDLR WDR81
2	growth/size/body region	MP:0005378	9.35	CAMTA1 NFIA RELN VLDLR WDR81
3	nervous system	MP:0003631	9.1	CA8 CAMTA1 NFIA RELN VLDLR WDR81

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Drugs & Therapeutics for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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Genetic Tests for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genetic tests related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

#	Genetic test	Affiliating Genes
1	Cerebellar Ataxia, Nonprogressive, with Mental Retardation ³⁰	CAMTA1

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Anatomical Context for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards organs/tissues related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁴²

Brain, Eye

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Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Articles related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

#	Title	Authors	Year
1	Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. ( 22693284 )	Thevenon J...Thauvin-Robinet C	2012

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Genes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAMTA1	Calmodulin Binding Transcription Activator 1	Protein Coding	1375.13	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	22693284
2	WDR81	WD Repeat Domain 81	Protein Coding	17.17	DISEASES inferred ¹⁵
3	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	17.12	DISEASES inferred ¹⁵
4	NFIA	Nuclear Factor I A	Protein Coding	16.3	DISEASES inferred ¹⁵
5	CA8	Carbonic Anhydrase 8	Protein Coding	15.46	DISEASES inferred ¹⁵
6	RELN	Reelin	Protein Coding	15.25	DISEASES inferred ¹⁵

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Variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

ClinVar genetic disease variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁶ (show all 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CAMTA1	CAMTA1, 81-KB DEL, EX4	deletion	Pathogenic
2	CAMTA1	CAMTA1, 539-KB DUP, EX3-5	duplication	Pathogenic
3	CAMTA1	CAMTA1, 49-KB DEL, EX2-3	deletion	Pathogenic
4	CAMTA1	NM_015215.3(CAMTA1): c.3230A> G (p.Tyr1077Cys)	single nucleotide variant	Likely pathogenic	rs863224853	GRCh37	Chromosome 1, 7796567: 7796567
5	CAMTA1	NM_015215.3(CAMTA1): c.3230A> G (p.Tyr1077Cys)	single nucleotide variant	Likely pathogenic	rs863224853	GRCh38	Chromosome 1, 7736507: 7736507
6	CAMTA1	NM_015215.3(CAMTA1): c.154T> A (p.Phe52Ile)	single nucleotide variant	Uncertain significance	rs879255532	GRCh38	Chromosome 1, 6825130: 6825130
7	CAMTA1	NM_015215.3(CAMTA1): c.154T> A (p.Phe52Ile)	single nucleotide variant	Uncertain significance	rs879255532	GRCh37	Chromosome 1, 6885190: 6885190
8	CAMTA1	NM_015215.3(CAMTA1): c.2863C> T (p.Arg955Trp)	single nucleotide variant	Likely pathogenic	rs1135401818	GRCh37	Chromosome 1, 7737742: 7737742
9	CAMTA1	NM_015215.3(CAMTA1): c.2863C> T (p.Arg955Trp)	single nucleotide variant	Likely pathogenic	rs1135401818	GRCh38	Chromosome 1, 7677682: 7677682
10	CAMTA1	NM_015215.3(CAMTA1): c.800del (p.Ser267Thrfs)	deletion	Likely pathogenic	rs1553238311	GRCh38	Chromosome 1, 7661861: 7661861
11	CAMTA1	NM_015215.3(CAMTA1): c.800del (p.Ser267Thrfs)	deletion	Likely pathogenic	rs1553238311	GRCh37	Chromosome 1, 7721921: 7721921
12	CAMTA1	NM_015215.3(CAMTA1): c.229A> G (p.Asn77Asp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 6885265: 6885265
13	CAMTA1	NM_015215.3(CAMTA1): c.229A> G (p.Asn77Asp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 6825205: 6825205
14	PRDM16	NC_000001.10: g.3290001_3297000del7000	deletion	Uncertain significance		GRCh37	Chromosome 1, 3290001: 3297000
15	CAMTA1	NC_000001.10: g.7682001_7685000del3000	deletion	Pathogenic		GRCh37	Chromosome 1, 7682001: 7685000
16	covers 13 genes, none of which curated to show dosage sensitivity	NC_000001.10: g.12030001_12898000del868000	deletion	Uncertain significance		GRCh37	Chromosome 1, 12030001: 12898000
17		NC_000001.10: g.14176001_14443000del267000	deletion	Benign		GRCh37	Chromosome 1, 14176001: 14443000
18	SLC9A1	NC_000001.10: g.27415001_27452000del37000	deletion	Uncertain significance		GRCh37	Chromosome 1, 27415001: 27452000
19	NID1	NC_000001.10: g.236176001_236183000del7000	deletion	Uncertain significance		GRCh37	Chromosome 1, 236176001: 236183000
20	SMYD3	NC_000001.10: g.246031001_246033000del2000	deletion	Uncertain significance		GRCh37	Chromosome 1, 246031001: 246033000

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Expression for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Search GEO for disease gene expression data for Cerebellar Ataxia, Nonprogressive, with Mental Retardation.

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Pathways for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Pathways related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Reelin Pathway (Cajal-Retzius cells) ⁶⁵	11.26	RELN VLDLR
2	Guidance Cues and Growth Cone Motility ⁶⁵	11.22	RELN VLDLR
3	G-protein signaling_Regulation of RAC1 activity ²³	11	RELN VLDLR
4	Lissencephaly gene (LIS1) in neuronal migration and development ¹	10.45	RELN VLDLR
5	Reelin signaling pathway ¹	10.09	RELN VLDLR

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GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Biological processes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:0007411	9.26	RELN VLDLR
2	positive regulation of protein kinase activity	GO:0045860	9.16	RELN VLDLR
3	ventral spinal cord development	GO:0021517	8.96	RELN VLDLR
4	reelin-mediated signaling pathway	GO:0038026	8.62	RELN VLDLR

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⁷⁷ Wikipedia

Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR)

Aliases & Classifications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards integrated aliases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Related Diseases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Symptoms & Phenotypes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Human phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

MGI Mouse Phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Drugs & Therapeutics for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genetic Tests for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genetic tests related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Anatomical Context for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards organs/tissues related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Articles related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Genes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation (1 elite genes):

Variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

ClinVar genetic disease variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Expression for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Pathways for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Pathways related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Biological processes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation