CANPMR
MCID: CRB139
MIFTS: 39

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 56 29 13 6 71
Nonprogressive Cerebellar Ataxia with Mental Retardation 12 36 15
Canpmr 56 73
Non-Progressive Cerebellar Ataxia with Intellectual Disability 58
Cerebellar Ataxia, Non-Progressive, with Mental Retardation 73
Ataxia, Cerebellar, Nonprogressive, with Mental Retardation 39

Characteristics:

Orphanet epidemiological data:

58
non-progressive cerebellar ataxia with intellectual disability
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
dysmorphic facial features are variable
ataxia is nonprogressive


HPO:

31
cerebellar ataxia, nonprogressive, with mental retardation:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

OMIM : 56 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 strabismus and hydrocephalus, congenital, 1, 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 Spinocerebellar ataxia 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 An autosomal dominant 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.

KEGG : 36 Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.

UniProtKB/Swiss-Prot : 73 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

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
5 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
6 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
7 strabismus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000486
8 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
9 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
10 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
11 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
12 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
13 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
14 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
15 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
16 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
17 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
18 cerebellar hypoplasia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001321
19 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
20 abnormal cortical gyration 58 31 frequent (33%) Frequent (79-30%) HP:0002536
21 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
22 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
23 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
24 nonprogressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002470
25 focal myoclonic seizure 31 frequent (33%) HP:0011166
26 narrow mouth 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000160
27 palpebral edema 58 31 occasional (7.5%) Very rare (<4-1%) HP:0100540
28 large forehead 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002003
29 short ear 58 31 occasional (7.5%) Very rare (<4-1%) HP:0400005
30 macrocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000256
31 abnormal pyramidal sign 58 31 very rare (1%) Very rare (<4-1%) HP:0007256
32 cerebral cortical atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002120
33 intention tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002080
34 brisk reflexes 58 31 very rare (1%) Very rare (<4-1%) HP:0001348
35 mesiodens 58 31 very rare (1%) Very rare (<4-1%) HP:0011067
36 hypoplastic hippocampus 58 31 very rare (1%) Very rare (<4-1%) HP:0025517
37 hypertelorism 31 HP:0000316
38 gastroesophageal reflux 31 HP:0002020
39 ataxia 58 Frequent (79-30%)
40 nystagmus 58 Excluded (0%)
41 low-set ears 31 HP:0000369
42 downslanted palpebral fissures 31 HP:0000494
43 protruding ear 31 HP:0000411
44 broad forehead 31 HP:0000337
45 positive romberg sign 58 Excluded (0%)
46 hyperactivity 31 HP:0000752
47 poor motor coordination 31 HP:0002275
48 segmental myoclonic seizures 58 Frequent (79-30%)
49 hippocampal atrophy 31 HP:0410170
50 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
cerebellar hypoplasia
unsteady gait
more
Abdomen Gastrointestinal:
gastroesophageal reflux
constipation

Head And Neck Face:
long face
long philtrum
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 Eyes:
hypertelorism
downslanting palpebral fissures
strabismus (in some patients)
palpebral edema (in 1 family)

Head And Neck Ears:
low-set ears
prominent ears
short ears

Head And Neck Head:
large forehead
broad 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

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:

40
Brain, Eye

Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Articles related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

# Title Authors PMID Year
1
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 6 56
22693284 2012
2
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 56
24738973 2015
3
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 61
22973972 2012
4
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 61
19332571 2009

Variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

ClinVar genetic disease variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAMTA1 NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)SNV Pathogenic 801430 1:7725246-7725246 1:7665186-7665186
2 CAMTA1 CAMTA1, 81-KB DEL, EX4deletion Pathogenic 37006
3 CAMTA1 CAMTA1, 539-KB DUP, EX3-5duplication Pathogenic 37007
4 CAMTA1 CAMTA1, 49-KB DEL, EX2-3deletion Pathogenic 37008
5 CAMTA1 NM_015215.4(CAMTA1):c.511-18459_511-15460deldeletion Pathogenic 599309 1:7682001-7685000 1:7621941-7624940
6 CAMTA1 NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)SNV Likely pathogenic 216897 rs863224853 1:7796567-7796567 1:7736507-7736507
7 CAMTA1 NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)SNV Likely pathogenic 431151 rs1135401818 1:7737742-7737742 1:7677682-7677682
8 CAMTA1 NM_015215.4(CAMTA1):c.800del (p.Ser267fs)deletion Likely pathogenic 559860 rs1553238311 1:7721921-7721921 1:7661861-7661861
9 CAMTA1 NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)SNV Uncertain significance 560237 rs1557636777 1:6885265-6885265 1:6825205-6825205
10 PRDM16 deletion Uncertain significance 599308 1:3290001-3297000
11 SLC9A1 deletion Uncertain significance 599312 1:27415001-27452000
12 NID1 deletion Uncertain significance 599313 1:236176001-236183000
13 SMYD3 NM_001167740.2(SMYD3):c.814-5812_814-3813deldeletion Uncertain significance 599314 1:246031001-246033000 1:245867699-245869698
14 CAMTA1 NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)SNV Uncertain significance 634497 rs774307423 1:7792567-7792567 1:7732507-7732507
15 CAMTA1 NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val)SNV Uncertain significance 690391 1:7797328-7797328 1:7737268-7737268
16 CAMTA1 NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)SNV Uncertain significance 252997 rs879255532 1:6885190-6885190 1:6825130-6825130
17 covers 13 genes, none of which curated to show dosage sensitivity deletion Uncertain significance 599310 1:12030001-12898000
18 CAMTA1 NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)SNV Benign/Likely benign 784438 1:7798367-7798367 1:7738307-7738307
19 deletion Benign 599311 1:14176001-14443000

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 11.38 VLDLR RELN
2 11.22 VLDLR RELN
3 10.45 VLDLR RELN
4 10.09 VLDLR RELN

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 positive regulation of protein kinase activity GO:0045860 9.16 VLDLR RELN
2 reelin-mediated signaling pathway GO:0038026 8.96 VLDLR RELN
3 ventral spinal cord development GO:0021517 8.62 VLDLR RELN

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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