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

MCID: CRB139 MIFTS: 25	Cerebellar Ataxia, Nonprogressive, with Mental Retardation Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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 ⁵⁷ ²⁹ ¹³ ⁶ ⁷³

Canpmr ⁵⁷ ⁷⁵

Non-Progressive Cerebellar Ataxia with Intellectual Disability ⁵⁹

Cerebellar Ataxia, Non-Progressive, with Mental Retardation ⁷⁵

Ataxia, Cerebellar, Nonprogressive, with Mental Retardation ⁴⁰

Nonprogressive Cerebellar Ataxia with Mental Retardation ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
dysmorphic facial features are variable
ataxia is nonprogressive

HPO:

³²

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: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Congenital nonprogressive ataxia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 614756

Disease Ontology ¹² DOID:0050998

Orphanet ⁵⁹ ORPHA314647

ICD10 via Orphanet ³⁴ G11.0

MedGen ⁴² C3553661 CN142515

MeSH ⁴⁴ D002524 D008607

SNOMED-CT via HPO ⁶⁹ 263681008 14582003 249321001 more

UMLS ⁷³ C3553661

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Summaries for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

OMIM : ⁵⁷ 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 canpmr, is related to chromosome 1p32-p31 deletion syndrome, and has symptoms including ataxia An important gene associated with Cerebellar Ataxia, Nonprogressive, with Mental Retardation is CAMTA1 (Calmodulin Binding Transcription Activator 1). Affiliated tissues include brain and eye, and related phenotypes are macrocephaly and dysarthria

UniProtKB/Swiss-Prot : ⁷⁵ 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	10.0

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

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

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

Muscle Soft Tissue:
hypotonia, neonatal

Clinical features from OMIM:

614756

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

⁵⁹ ³² (show all 39)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0000256
2	dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001260
3	constipation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002019
4	abnormal pyramidal signs ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0007256
5	global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001263
6	delayed speech and language development ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000750
7	anteverted nares ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000463
8	neonatal hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001319
9	intellectual disability, mild ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001256
10	long philtrum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000343
11	thick lower lip vermilion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000179
12	strabismus ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0000486
13	dysmetria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001310
14	intention tremor ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0002080
15	cerebral cortical atrophy ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0002120
16	memory impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002354
17	palpebral edema ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0100540
18	cerebellar hypoplasia ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001321
19	deeply set eye ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000490
20	narrow mouth ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0000160
21	long face ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000276
22	bulbous nose ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000414
23	large forehead ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0002003
24	aggressive behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000718
25	pointed chin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000307
26	abnormal social behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012433
27	wide nose ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000445
28	brisk reflexes ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0001348
29	autistic behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000729
30	unsteady gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002317
31	abnormal cortical gyration ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002536
32	nonprogressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002470
33	segmental myoclonic seizures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0025191
34	mesiodens ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0011067
35	hypoplastic hippocampus ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0025517
36	short ear ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0400005
37	nystagmus ⁵⁹		Excluded (0%)
38	ataxia ⁵⁹		Frequent (79-30%)
39	positive romberg sign ⁵⁹		Excluded (0%)

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

ataxia

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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 ²⁹	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:

⁴¹

Brain, Eye

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Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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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	1368.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	22693284

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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 11)

#	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.4369C> T (p.Arg1457Ter)	single nucleotide variant	Likely pathogenic	rs886043243	GRCh37	Chromosome 1, 7805081: 7805081
9	CAMTA1	NM_015215.3(CAMTA1): c.4369C> T (p.Arg1457Ter)	single nucleotide variant	Likely pathogenic	rs886043243	GRCh38	Chromosome 1, 7745021: 7745021
10	CAMTA1	NM_015215.3(CAMTA1): c.2863C> T (p.Arg955Trp)	single nucleotide variant	Likely pathogenic	rs1135401818	GRCh37	Chromosome 1, 7737742: 7737742
11	CAMTA1	NM_015215.3(CAMTA1): c.2863C> T (p.Arg955Trp)	single nucleotide variant	Likely pathogenic	rs1135401818	GRCh38	Chromosome 1, 7677682: 7677682

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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

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GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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