deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Findings
No curated finding names deafness-encephaloneuropathy-obesity-valvulopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Definition from the Mondo Disease Ontology (MONDO:0013837), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Aortic regurgitationHPOHP:0001659
- 2 of 2 reported patients
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Livedo reticularisHPOHP:0033505
- 2 of 2 reported patients
- MacrocephalyHPOHP:0000256
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.
- PDSS1HGNC:17759
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- Also called
- coenzyme Q10 deficiency, primary, type 2hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome