Details of Disease | DrugMAP

General Information of Disease (ID: DIS2VPVR)

Disease Name	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Synonyms	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus; ACPHD; combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
Disease Hierarchy	DIS6JNI3: Hereditary ataxia DIS2VPVR: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Disease Identifiers	MONDO ID MONDO_0014523 UMLS CUI C4015436 OMIM ID 616192 MedGen ID 863873 Orphanet ID 445062 SNOMED CT ID 1255271005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAJC3	OT7ROIJF	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.