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 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:

Orphanet: 60  
Rare neurological diseases


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.

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:



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:

60 33 (show all 50)
# 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 intention tremor 60 33 very rare (1%) Very rare (<4-1%) HP:0002080
32 cerebral cortical atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0002120
33 brisk reflexes 60 33 very rare (1%) Very rare (<4-1%) HP:0001348
34 mesiodens 60 33 very rare (1%) Very rare (<4-1%) HP:0011067
35 hypoplastic hippocampus 60 33 very rare (1%) Very rare (<4-1%) HP:0025517
36 abnormal pyramidal sign 33 very rare (1%) HP:0007256
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 abnormal pyramidal signs 60 Very rare (<4-1%)
43 gastroesophageal reflux 33 HP:0002020
44 protruding ear 33 HP:0000411
45 broad forehead 33 HP:0000337
46 downslanted palpebral fissures 33 HP:0000494
47 hyperactivity 33 HP:0000752
48 positive romberg sign 60 Excluded (0%)
49 poor motor coordination 33 HP:0002275
50 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

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 30 CAMTA1

Anatomical Context for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

42
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 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAMTA1 NM_015215.3(CAMTA1): c.3230A> G (p.Tyr1077Cys) single nucleotide variant Likely pathogenic rs863224853 GRCh37 Chromosome 1, 7796567: 7796567
2 CAMTA1 NM_015215.3(CAMTA1): c.3230A> G (p.Tyr1077Cys) single nucleotide variant Likely pathogenic rs863224853 GRCh38 Chromosome 1, 7736507: 7736507
3 CAMTA1 CAMTA1, 81-KB DEL, EX4 deletion Pathogenic
4 CAMTA1 CAMTA1, 539-KB DUP, EX3-5 duplication Pathogenic
5 CAMTA1 CAMTA1, 49-KB DEL, EX2-3 deletion Pathogenic
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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