mitochondrial complex IV deficiency, nuclear type 7
MONDO:0033637Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
26 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.
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- HyperketonemiaHPOHP:0410175
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
Show the remaining 14
- LeukodystrophyHPOHP:0002415
- 2 of 2 reported patients
- Mental deteriorationHPOHP:0001268
- 2 of 2 reported patients · Juvenile onset
- Metabolic acidosisHPOHP:0001942
- 11 of 11 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients · Juvenile onset
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 1 reported patient
- Tricuspid regurgitationHPOHP:0005180
- 1 of 1 reported patient
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.
- COX6B1HGNC:2280
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 7
- Also called
- MC4DN7