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GTR Home > Conditions/Phenotypes > Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Synonyms
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive multisystem disorder including defects in glucose metabolism, diffuse neurodegeneration, multiple hormone deficiencies, severe growth retardation with possible growth hormone deficiencies, and subtle osseous changes suggesting early-onset bone dysplasia (summary by Ozon et al., 2020). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACPHD, ERdj6, HP58, P58, P58IPK, PRKRI, p58(IPK), DNAJC3
    Summary: DnaJ heat shock protein family (Hsp40) member C3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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