Disease: Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Name Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Synonyms -

Classification developmental, genetic, neurological, otorhinolaryngological

Phenotypes Adult onset; Ataxia; Autosomal dominant inheritance; Cataplexy; Cerebellar atrophy; Dementia; Depressivity; Excessive daytime sleepiness; Hyperreflexia; Memory impairment; Narcolepsy; Optic atrophy; Primitive reflex; Progressive; Psychosis; Sensorineural hearing impairment; Spasticity

Associated Genes DNMT1 (Withdrawn symbols: CXXC9, DNMT, MCMT )

Mouse Orthologs Dnmt1 (Withdrawn symbols: Met-1, Met1, MommeD2 )

Source OMIM:604121 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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