combined oxidative phosphorylation defect type 11
Findings
No curated finding names combined oxidative phosphorylation defect type 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013969), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death · Death in childhood · Stillbirth
HPO, annotations 2026-09-02
Features
10 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.
- Increased circulating lactate concentrationHPOHP:0002151
- 4 of 4 reported patients
- Lactic acidosisHPOHP:0003128
- 4 of 4 reported patients
- Renal insufficiencyHPOHP:0000083
- 5 of 5 reported patients
- Respiratory failureHPOHP:0002878
- 5 of 5 reported patients · Neonatal onset
- Generalized hypotoniaHPOHP:0001290
- 4 of 5 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 5 reported patients
- LethargyHPO
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.
- RMND1HGNC:21176
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2016
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 11
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in RMND1combined oxidative phosphorylation deficiency type 11COXPD11RMND1 combined oxidative phosphorylation deficiency