Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR)

External Ids:

Disease Ontology 12 DOID:0050998 OMIM 56 614756 KEGG 36 H02273 MeSH 43 D002524 D008607 ICD10 via Orphanet 33 G11.0

Orphanet 58 ORPHA314647 MedGen 41 C3553661 CN142515 SNOMED-CT via HPO 68 128602000 128613002 14582003 14648003 14760008 16026008 162294008 16331000 17802000 194021007 205294008 22006008 22066006 224958001 225595004 22631008 229721007 235595009 246545002 246800008 246923005 248004009 249321001 263681008 266414008 275478007 278849000 29164008 30721006 313307000 32566006 367534004 386807006 394616008 44548000 55533009 61372001 62415009 698065002 708670007 80093006 8011004 84757009 8666004 86765009 89091004 91175000 95515009 more UMLS 71 C3553661

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.

Clinical features from OMIM:

614756

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Search GEO for disease gene expression data for Cerebellar Ataxia, Nonprogressive, with Mental Retardation.