juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
MONDO:0014523Mondo
Findings
No curated finding names juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- 5 of 5 reported patients
- Decreased sensory nerve conduction velocityHPOHP:0003448
- 5 of 5 reported patients
- Elevated hemoglobin A1cHPOHP:0040217
- 5 of 5 reported patients
- Peripheral neuropathyHPOHP:0009830
- 5 of 5 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 5 reported patients
- Sensory ataxiaHPOHP:0010871
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Type I diabetes mellitusHPOHP:0100651
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Areflexia of lower limbsHPOHP:0002522
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Frequent (30% to 79% of cases)
Show the remaining 11
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- Frequent (30% to 79% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNAJC3HGNC:9439
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
- Also called
- combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome