CANPMR
MCID: CRB139
MIFTS: 39
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Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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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. |
Human phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:58 31 (show all 50)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614756UMLS symptoms related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:ataxia |
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MalaCards organs/tissues related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:40
Brain,
Eye
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Articles related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:
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ClinVar genetic disease variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:6 (show all 19)
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Biological processes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:
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