Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus (ACPHD)

Alias:

Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome

Acphd

Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome

Combined Cerebellar and Peripheral Ataxia-Deafness-Diabetes Mellitus Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus, is also known as juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, and has symptoms including gait ataxia An important gene associated with Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus is DNAJC3 (DnaJ Heat Shock Protein Family (Hsp40) Member C3). Affiliated tissues include bone and brain, and related phenotypes are diabetes mellitus and short stature

Related ID：

MALACARDS：ATX031

OMIM：616192

MESH：D001259