CANPMR
MCID: CRB139
MIFTS: 37

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 70
Nonprogressive Cerebellar Ataxia with Mental Retardation 12 36 15
Canpmr 57 72
Non-Progressive Cerebellar Ataxia with Intellectual Disability 58
Cerebellar Ataxia, Non-Progressive, with Mental Retardation 72
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®:

57 (Updated 20-May-2021)
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® : 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) (Updated 20-May-2021)

MalaCards based summary : Cerebellar Ataxia, Nonprogressive, with Mental Retardation, also known as nonprogressive cerebellar ataxia with mental retardation, is related to chromosome 1p36 deletion syndrome and strabismus, 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 PKMTs methylate histone lysines and Lysine degradation. Affiliated tissues include eye and brain, 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 : 72 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 chromosome 1p36 deletion syndrome 10.0 PRDM16 CAMTA1
2 strabismus 9.9
3 ataxia and polyneuropathy, adult-onset 9.9
4 brain malformations with or without urinary tract defects 9.9
5 mechanical strabismus 9.9
6 hypotonia 9.9
7 tremor 9.9
8 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 9.8 WDR81 VLDLR
9 donnai-barrow syndrome 9.8 VLDLR CWF19L1
10 cerebellar hypoplasia 9.6 WDR81 VLDLR
11 galloway-mowat syndrome 9.6 ZNF592 WDR81
12 autosomal recessive cerebellar ataxia 9.4 ZNF592 VLDLR CWF19L1

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 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
7 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
8 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
9 strabismus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000486
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 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
14 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
15 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
16 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
17 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
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 palpebral edema 58 31 occasional (7.5%) Very rare (<4-1%) HP:0100540
27 narrow mouth 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000160
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 nystagmus 58 Excluded (0%)
38 ataxia 58 Frequent (79-30%)
39 hypertelorism 31 HP:0000316
40 gastroesophageal reflux 31 HP:0002020
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®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
cerebellar hypoplasia
unsteady gait
more
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
strabismus (in some patients)
palpebral edema (in 1 family)

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)

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

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 (Updated 20-May-2021)

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
Eye, Brain

Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

# Title Authors PMID Year
1
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 6 57
24738973 2015
2
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 57 6
22693284 2012
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 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAMTA1 CAMTA1, 81-KB DEL, EX4 Deletion Pathogenic 37006 GRCh37:
GRCh38:
2 CAMTA1 CAMTA1, 539-KB DUP, EX3-5 Duplication Pathogenic 37007 GRCh37:
GRCh38:
3 CAMTA1 CAMTA1, 49-KB DEL, EX2-3 Deletion Pathogenic 37008 GRCh37:
GRCh38:
4 CAMTA1 NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter) SNV Pathogenic 801430 rs1576691273 GRCh37: 1:7725246-7725246
GRCh38: 1:7665186-7665186
5 CAMTA1 NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs) Indel Pathogenic 973263 GRCh37: 1:7798409-7798411
GRCh38: 1:7738349-7738351
6 CAMTA1 NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs) Deletion Pathogenic 976737 GRCh37: 1:7797553-7797560
GRCh38: 1:7737493-7737500
7 CAMTA1 NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer) Deletion Pathogenic 982402 GRCh37: 1:7151375-7151378
GRCh38: 1:7091315-7091318
8 CAMTA1 NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs) Duplication Pathogenic 984639 GRCh37: 1:7724058-7724059
GRCh38: 1:7663998-7663999
9 CAMTA1 NM_015215.4(CAMTA1):c.511-18459_511-15460del Deletion Pathogenic 599309 GRCh37: 1:7682001-7685000
GRCh38: 1:7621941-7624940
10 CAMTA1 NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys) SNV Likely pathogenic 216897 rs863224853 GRCh37: 1:7796567-7796567
GRCh38: 1:7736507-7736507
11 CAMTA1 NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter) SNV Likely pathogenic 1029369 GRCh37: 1:7807826-7807826
GRCh38: 1:7747766-7747766
12 CAMTA1 NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter) SNV Likely pathogenic 988757 GRCh37: 1:7725067-7725067
GRCh38: 1:7665007-7665007
13 CAMTA1 NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp) SNV Likely pathogenic 431151 rs1135401818 GRCh37: 1:7737742-7737742
GRCh38: 1:7677682-7677682
14 CAMTA1 NM_015215.4(CAMTA1):c.800del (p.Ser267fs) Deletion Likely pathogenic 559860 rs1553238311 GRCh37: 1:7721921-7721921
GRCh38: 1:7661861-7661861
15 CAMTA1 NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp) SNV Uncertain significance 560237 rs1557636777 GRCh37: 1:6885265-6885265
GRCh38: 1:6825205-6825205
16 CAMTA1 NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys) SNV Uncertain significance 634497 rs774307423 GRCh37: 1:7792567-7792567
GRCh38: 1:7732507-7732507
17 CAMTA1 NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) SNV Uncertain significance 690391 rs1577305812 GRCh37: 1:7797328-7797328
GRCh38: 1:7737268-7737268
18 CAMTA1 NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile) SNV Uncertain significance 252997 rs879255532 GRCh37: 1:6885190-6885190
GRCh38: 1:6825130-6825130
19 CAMTA1 NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) SNV Uncertain significance 981615 GRCh37: 1:7807773-7807773
GRCh38: 1:7747713-7747713
20 CAMTA1 NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly) SNV Uncertain significance 930676 GRCh37: 1:7725080-7725080
GRCh38: 1:7665020-7665020
21 CAMTA1 NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg) SNV Uncertain significance 930871 GRCh37: 1:7724834-7724834
GRCh38: 1:7664774-7664774
22 CAMTA1 NM_015215.4(CAMTA1):c.851G>A (p.Arg284His) SNV Uncertain significance 931080 GRCh37: 1:7723458-7723458
GRCh38: 1:7663398-7663398
23 overlap with 13 genes Deletion Uncertain significance 599310 GRCh37: 1:12030001-12898000
GRCh38:
24 SLC9A1 Deletion Uncertain significance 599312 GRCh37: 1:27415001-27452000
GRCh38:
25 PRDM16 NM_022114.4(PRDM16):c.439-11715_439-4716del Deletion Uncertain significance 599308 GRCh37: 1:3289999-3296998
GRCh38: 1:3373435-3380434
26 NID1 NM_002508.3(NID1):c.2129-2427_2405-658del Deletion Uncertain significance 599313 GRCh37: 1:236176001-236183000
GRCh38: 1:236012701-236019700
27 CAMTA1 NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn) SNV Uncertain significance 1029365 GRCh37: 1:7723794-7723794
GRCh38: 1:7663734-7663734
28 CAMTA1 NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg) SNV Uncertain significance 1029366 GRCh37: 1:7725077-7725077
GRCh38: 1:7665017-7665017
29 CAMTA1 NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala) SNV Uncertain significance 1029367 GRCh37: 1:7737689-7737689
GRCh38: 1:7677629-7677629
30 CAMTA1 NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp) SNV Uncertain significance 1029368 GRCh37: 1:7798252-7798252
GRCh38: 1:7738192-7738192
31 CAMTA1 NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) SNV Uncertain significance 1029370 GRCh37: 1:7721839-7721839
GRCh38: 1:7661779-7661779
32 CAMTA1 NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln) SNV Uncertain significance 1031885 GRCh37: 1:7724166-7724166
GRCh38: 1:7664106-7664106
33 CAMTA1 NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) SNV Uncertain significance 1031886 GRCh37: 1:7815716-7815716
GRCh38: 1:7755656-7755656
34 CAMTA1 NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys) SNV Uncertain significance 1031887 GRCh37: 1:7723547-7723547
GRCh38: 1:7663487-7663487
35 SMYD3 NM_001167740.2(SMYD3):c.814-5812_814-3813del Deletion Uncertain significance 599314 GRCh37: 1:246031001-246033000
GRCh38: 1:245867699-245869698
36 CAMTA1 NM_015215.4(CAMTA1):c.511-22_511-19del Deletion Uncertain significance 932045 GRCh37: 1:7700437-7700440
GRCh38: 1:7640377-7640380
37 CAMTA1 NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys) SNV Likely benign 930634 GRCh37: 1:7805987-7805987
GRCh38: 1:7745927-7745927
38 CAMTA1 NM_015215.4(CAMTA1):c.806-11G>A SNV Likely benign 931279 GRCh37: 1:7723402-7723402
GRCh38: 1:7663342-7663342
39 CAMTA1 NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) SNV Likely benign 784438 rs137974312 GRCh37: 1:7798367-7798367
GRCh38: 1:7738307-7738307
40 CAMTA1 NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn) SNV not provided 973014 GRCh37: 1:7309671-7309671
GRCh38: 1:7249611-7249611

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
Show member pathways
11.11 SMYD3 PRDM16
2 10.42 SMYD3 PRDM16

GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

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

# Name GO ID Score Top Affiliating Genes
1 transcription coregulator activity GO:0003712 8.62 PRDM16 CAMTA1

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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