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juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

MONDO:0014523

Also known as:combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndromeACPHDataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

Overview

GeneticsAutosomal recessive · DNAJC3 (chr 13)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Brain shrinkage (cerebral atrophy), Decreased motor nerve conduction velocity, Shrinkage of the cerebellum (cerebellar atrophy), and Sensory ataxia and others; and very common findings: Short stature. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Brain shrinkage (cerebral atrophy), Babinski sign, Gait ataxia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DNAJC3 encodes DnaJ heat shock protein family (Hsp40) member C3 (504 aa). Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Highest expression in Artery Aorta (44.6 TPM) and Artery Tibial (41.2 TPM).

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome is associated with mutations in the DNAJC3 gene on chromosome 13.

The DNAJC3 protein participates in Expression of DNAJC3 (p58IPK) and HyPro-polyprotein folds pathways.

DNAJC3 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for DNAJC3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 1 very common feature, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome.

2 publications have been identified in PubMed for juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome. Kisho has analyzed 1 by research type. Research spans Review / Meta-Analysis (100%).

Recent Publications

K S PK (2025). [PMID: 39835172](https://pubmed.ncbi.nlm.nih.gov/39835172/). *Mol Genet Metab Rep*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616192

Orphanet

European rare disease database

Orphanet:445062

GARD

Genetic and Rare Diseases Info Center

GARD:17768

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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