CANPMR
MCID: CRB139
MIFTS: 38

Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR)

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

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 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.

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:



Diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

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 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

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

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

# Super pathways Score Top Affiliating Genes
1 11.26 RELN VLDLR
2 11.22 RELN VLDLR
3 11 RELN VLDLR
4 10.45 RELN VLDLR
5 10.09 RELN VLDLR

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

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....