CECBA
MCID: CRB228
MIFTS: 32

Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities (CECBA)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

MalaCards integrated aliases for Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:

Name: Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities 57 73
Cerebellar Ataxia, Nonprogressive, with Mental Retardation 57 71
Nonprogressive Cerebellar Ataxia with Mental Retardation 11 14
Canpmr 57 73
Cecba 57 73
Non-Progressive Cerebellar Ataxia with Intellectual Disability 58
Ataxia, Cerebellar, Nonprogressive, with Mental Retardation 38

Characteristics:


Inheritance:

Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities: Autosomal dominant 57
Non-Progressive Cerebellar Ataxia with Intellectual Disability: Autosomal dominant 58

Prevelance:

Non-Progressive Cerebellar Ataxia with Intellectual Disability: <1/1000000 (Worldwide) 58

Age Of Onset:

Non-Progressive Cerebellar Ataxia with Intellectual Disability: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
de novo mutation
variable manifestations
onset usually in infancy or early childhood
later onset, even adulthood, has been reported


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

OMIM®: 57 Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020). (614756) (Updated 08-Dec-2022)

MalaCards based summary: Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities, also known as cerebellar ataxia, nonprogressive, with mental retardation, is related to brain malformations with or without urinary tract defects and donnai-barrow syndrome, and has symptoms including ataxia An important gene associated with Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities is CAMTA1 (Calmodulin Binding Transcription Activator 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, mild

Orphanet: 58 A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Related Diseases for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Diseases related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 brain malformations with or without urinary tract defects 10.1
2 donnai-barrow syndrome 10.0 VLDLR CWF19L1
3 strabismus 9.9
4 corpus callosum, agenesis of 9.9
5 hydrocephalus, congenital, 1 9.9
6 aceruloplasminemia 9.9
7 hypotonia 9.9
8 tremor 9.9
9 autosomal recessive congenital cerebellar ataxia 9.9 WDR81 CA8
10 gillespie syndrome 9.8 WDR81 CA8
11 galloway-mowat syndrome 9.8 ZNF592 WDR81
12 cerebellar hypoplasia 9.8 WDR81 VLDLR
13 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 9.5 WDR81 VLDLR CA8 ATCAY

Graphical network of the top 20 diseases related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:



Diseases related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities

Symptoms & Phenotypes for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Human phenotypes related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:

58 30 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
2 intellectual disability, mild 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001256
3 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001260
4 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
5 delayed speech and language development 58 30 Very rare (1%) Frequent (79-30%)
HP:0000750
6 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
7 neonatal hypotonia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001319
8 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000179
9 strabismus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000486
10 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
11 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000343
12 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000490
13 bulbous nose 58 30 Very rare (1%) Frequent (79-30%)
HP:0000414
14 pointed chin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000307
15 dysmetria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001310
16 abnormal social behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0012433
17 memory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002354
18 cerebellar hypoplasia 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001321
19 wide nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000445
20 abnormal cortical gyration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002536
21 autistic behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000729
22 aggressive behavior 58 30 Very rare (1%) Frequent (79-30%)
HP:0000718
23 unsteady gait 58 30 Very rare (1%) Frequent (79-30%)
HP:0002317
24 nonprogressive cerebellar ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002470
25 focal myoclonic seizure 30 Frequent (33%) HP:0011166
26 macrocephaly 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000256
27 abnormal pyramidal sign 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007256
28 palpebral edema 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100540
29 narrow mouth 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000160
30 large forehead 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002003
31 cerebral cortical atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002120
32 intention tremor 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002080
33 brisk reflexes 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001348
34 mesiodens 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011067
35 hypoplastic hippocampus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0025517
36 short ear 58 30 Very rare (1%) Very rare (<4-1%)
HP:0400005
37 scoliosis 30 Very rare (1%) HP:0002650
38 high palate 30 Very rare (1%) HP:0000218
39 hypertelorism 30 Very rare (1%) HP:0000316
40 short stature 30 Very rare (1%) HP:0004322
41 gastroesophageal reflux 30 Very rare (1%) HP:0002020
42 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
43 micrognathia 30 Very rare (1%) HP:0000347
44 myopia 30 Very rare (1%) HP:0000545
45 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
46 nasal speech 30 Very rare (1%) HP:0001611
47 broad forehead 30 Very rare (1%) HP:0000337
48 thin vermilion border 30 Very rare (1%) HP:0000233
49 hiatus hernia 30 Very rare (1%) HP:0002036
50 gait ataxia 30 Very rare (1%) HP:0002066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
tremor
more
Abdomen Gastrointestinal:
dysphagia
constipation
gastroesophageal reflux
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggressive behavior
hyperactivity
autistic features
obsessive-compulsive disorder
more
Head And Neck Head:
large forehead
broad forehead

Head And Neck Neck:
torticollis

Head And Neck Teeth:
abnormally implanted teeth (in 1 family)

Head And Neck Eyes:
nystagmus
hypertelorism
downslanting palpebral fissures
deep-set eyes
strabismus (in some patients)
more
Head And Neck Ears:
low-set ears
prominent ears
short ears

Head And Neck Face:
long face
long philtrum
pointed chin
dysmorphic facies, variable, nonspecific (in some patients)

Head And Neck Nose:
bulbous nose
broad nasal bridge
anteverted nostrils
wide flat nose

Head And Neck Mouth:
small mouth
thick lower lip

Clinical features from OMIM®:

614756 (Updated 08-Dec-2022)

UMLS symptoms related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:


ataxia

MGI Mouse Phenotypes related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 ATCAY CA8 CAMTA1 FBXL4 PMPCA POU4F1

Drugs & Therapeutics for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Search Clinical Trials, NIH Clinical Center for Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities

Genetic Tests for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Anatomical Context for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Organs/tissues related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:

MalaCards : Brain, Eye

Publications for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Articles related to Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities:

# Title Authors PMID Year
1
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. 57
33677721 2021
2
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. 57
33131045 2021
3
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. 57
32157189 2020
4
Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype. 57
30838254 2016
5
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 57
24738973 2015
6
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 57
22693284 2012
7
Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes. 62
33750428 2021
8
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes. 62
26848311 2016
9
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 62
22973972 2012
10
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 62
19332571 2009

Variations for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Expression for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Search GEO for disease gene expression data for Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities.

Pathways for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

GO Terms for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

Sources for Cerebellar Dysfunction with Variable Cognitive and Behavioral...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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