Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant (ADCADN)

Alias:
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Adca-Dn Syndrome
Adcadn
Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy
Ataxia, Cerebellar, Deafness, and Narcolepsy, Autosomal Dominant
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant, also known as autosomal dominant cerebellar ataxia, deafness and narcolepsy, is related to neuropathy, hereditary sensory, type ie and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, and has symptoms including cerebellar ataxia, muscle spasticity and excessive daytime somnolence. An important gene associated with Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant is DNMT1 (DNA Methyltransferase 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and One-carbon metabolism and related pathways. Affiliated tissues include brain and eye, and related phenotypes are sensorineural hearing impairment and narcolepsy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
14
190
5

Medical Symptom

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No data available

Gene & Mutation

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Disease Model

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References Literature

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