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 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 ⁵⁷ ²⁹ ¹³ ⁶ ⁷³

Nonprogressive Cerebellar Ataxia with Mental Retardation ¹² ¹⁵

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

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 194021007 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 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 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	30.1	CAMTA1 NFIA
2	lissencephaly with cerebellar hypoplasia	9.9	RELN VLDLR
3	lissencephaly	9.9	RELN VLDLR
4	neuronal migration disorders	9.9	RELN VLDLR
5	aceruloplasminemia	9.8	VLDLR WDR81
6	cerebellar hypoplasia	9.8	RELN VLDLR WDR81
7	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	9.7	CA8 VLDLR WDR81
8	cerebellar ataxia, mental retardation and dysequlibrium syndrome	9.7	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

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

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

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

⁵⁹ ³² (show all 50)

#	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	global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001263
5	delayed speech and language development ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000750
6	anteverted nares ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000463
7	neonatal hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001319
8	intellectual disability, mild ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001256
9	long philtrum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000343
10	thick lower lip vermilion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000179
11	strabismus ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0000486
12	dysmetria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001310
13	intention tremor ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0002080
14	cerebral cortical atrophy ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0002120
15	memory impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002354
16	palpebral edema ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0100540
17	cerebellar hypoplasia ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001321
18	deeply set eye ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000490
19	aggressive behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000718
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	pointed chin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000307
25	abnormal social behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012433
26	wide nose ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000445
27	brisk reflexes ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0001348
28	autistic behavior ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000729
29	unsteady gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002317
30	abnormal cortical gyration ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002536
31	nonprogressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002470
32	segmental myoclonic seizures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0025191
33	mesiodens ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0011067
34	hypoplastic hippocampus ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0025517
35	short ear ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0400005
36	hypertelorism ³²			HP:0000316
37	low-set ears ³²			HP:0000369
38	nystagmus ⁵⁹		Excluded (0%)
39	seizures ³²			HP:0001250
40	ataxia ⁵⁹		Frequent (79-30%)
41	abnormal pyramidal signs ⁵⁹		Very rare (<4-1%)
42	gastroesophageal reflux ³²			HP:0002020
43	protruding ear ³²			HP:0000411
44	broad forehead ³²			HP:0000337
45	downslanted palpebral fissures ³²			HP:0000494
46	hyperactivity ³²			HP:0000752
47	positive romberg sign ⁵⁹		Excluded (0%)
48	poor motor coordination ³²			HP:0002275
49	hippocampal atrophy ³²			HP:0410170
50	abnormal pyramidal sign ³²	very rare (1%)		HP:0007256

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

ataxia

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

⁴⁶

#	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 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	1375.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	22693284
2	WDR81	WD Repeat Domain 81	Protein Coding	17.18	DISEASES inferred ¹⁵
3	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	17.13	DISEASES inferred ¹⁵
4	NFIA	Nuclear Factor I A	Protein Coding	16.43	DISEASES inferred ¹⁵
5	CA8	Carbonic Anhydrase 8	Protein Coding	15.69	DISEASES inferred ¹⁵
6	RELN	Reelin	Protein Coding	15.24	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 15)

#	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
12	CAMTA1	NM_015215.3(CAMTA1): c.800del (p.Ser267Thrfs)	deletion	Likely pathogenic		GRCh38	Chromosome 1, 7661861: 7661861
13	CAMTA1	NM_015215.3(CAMTA1): c.800del (p.Ser267Thrfs)	deletion	Likely pathogenic		GRCh37	Chromosome 1, 7721921: 7721921
14	CAMTA1	NM_015215.3(CAMTA1): c.229A> G (p.Asn77Asp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 6885265: 6885265
15	CAMTA1	NM_015215.3(CAMTA1): c.229A> G (p.Asn77Asp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 6825205: 6825205

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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) ⁶⁴	11.26	RELN VLDLR
2	Guidance Cues and Growth Cone Motility ⁶⁴	11.22	RELN VLDLR
3	G-protein signaling_Regulation of RAC1 activity ²²	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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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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