hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
MONDO:0859302Mondo
Findings
No curated finding names hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 2 reported patients
- HyperisoleucinemiaHPOHP:0010913
- 2 of 2 reported patients
- HyperleucinemiaHPOHP:0010911
- 2 of 2 reported patients
- HypervalinemiaHPOHP:0010910
- 2 of 2 reported patients
- Increased blood urea nitrogenHPOHP:0003138
- 2 of 2 reported patients
- Mild global developmental delayHPOHP:0011342
- 2 of 2 reported patients
- PolyphagiaHPOHP:0002591
- 2 of 2 reported patients
- Recurrent feverHPOHP:0001954
- 2 of 2 reported patients
- TachypneaHPOHP:0002789
- 2 of 2 reported patients
Genes
2 genes
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.
Where it sits
- A kind of