MCID: CRB139
MIFTS: 25

Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

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:

Orphanet: 59  
Rare neurological diseases


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.

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

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

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

Search Clinical Trials , NIH Clinical Center 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:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 29 CAMTA1

Anatomical Context for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

41
Brain, Eye

Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

Expression for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

Pathways for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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34 ICD10 via Orphanet
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36 IUPHAR
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45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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