Mitochondrial complex iv deficiency, nuclear type 1

Preferred Label : Mitochondrial complex iv deficiency, nuclear type 1;

Symbol : MC4DN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cytochrome C oxidase deficiency; Cox deficiency; Mitochondrial complex iv deficiency;

Description : Complex IV (cytochrome c oxidase; EC 1.9.3.1) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See 123995 for discussion of some of the nuclear-encoded subunits. Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.;

Inheritance : Autosomal recessive; Mitochondrial;

Molecular basis : Caused by mutation in the cytochrome c oxidase subunit 8A gene (COX8A, 123870.0001); Caused by mutation in the cytochrome c oxidase subunit 6A2 gene (COX6A2, 602009.0001); Caused by mutation in the cytochrome c oxidase assembly factor COX20 gene (COX20, 614698.0001); Caused by mutation in the mitochondrial tRNA lysine 1 gene (MTTL1, 590050.0001); Caused by mutation in the cytochrome c oxidase subunit X gene (COX10, 602125.0001); Caused by mutation in the cytochrome c oxidase subunit I gene (MTCO1, 516030.0004); Caused by mutation in the mitochondrial tRNA serine 1 gene (MTTS1, 590080.0003); Caused by mutation in the cytochrome c oxidase subunit II gene (MTCO2, 516040.0001); Caused by mutation in the PET100 cytochrome c oxidase chaperone gene (PET100, 614770.0001); Caused by mutation in the chromosome 12 open reading frame 62 gene (C12ORF62, 614478.0001); Caused by mutation in the mitochondrial apoptogenic protein 1 gene (APOPT1, 616003.0001); Caused by mutation in the cytochrome c oxidase subunit 15 gene (COX15, 603646); Caused by mutation in the cytochrome c oxidase assembly factor 3 gene (COA3, 614775.0001); Caused by mutation in the surfeit 1 gene (SURF1, 185620.0001); Caused by mutation in the cytochrome c oxidase, subunit 4I1 gene (COX4I1, 123864.0001); Caused by mutation in the translational activator of mitochondrially encoded cytochrome c oxidase subunit 1 gene (TACO1, 612958.0001); Caused by mutation in the cytochrome c oxidase subunit VIb, polypeptide 1 gene (COX6B1, 124089.0001); Caused by mutation in the leucine-rich PPR motif-containing protein gene (LRPPRC, 607544.0001); Caused by mutation in the cytochrome c oxidase subunit III gene (MTCO3, 516050.0004); Caused by mutation in the SCO cytochrome c oxidase assembly protein 1gene (SCO1, 603644.0001);

Laboratory abnormalities : Increased serum lactate; Increased CSF lactate; Proteinuria; Glucosuria; Aminoaciduria; Hyperphosphaturia; Decreased activity of cytochrome c oxidase in muscle and fibroblasts;

Prefixed ID : #220110;

Details

Origin ID

220110;

UMLS CUI

C5435656;

Automatic exact mappings (from CISMeF team)
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
- Isolated mitochondrial respiratory chain complex IV deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cytochrome-C Oxidase Deficiency [NCIt concept]
- Mitochondrial Complex IV Deficiency, Nuclear Type 1 [NCIt concept]
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- cytochrome-c oxidase deficiency [MeSH concept]
- cytochrome-c oxidase deficiency [SNOMED Notion]
- cytochrome-c oxidase deficiency disease [DO Concept]
- mitochondrial complex IV deficiency [Disease (Nov.)]
DO Cross reference
- cytochrome-c oxidase deficiency disease [DO Concept]
Genes related to phenotype
- Surfeit 1 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Decreased liver function [HPO term]
- Exercise intolerance [HPO term]
- Exertional dyspnea [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Glycosuria [HPO term]
- Hepatomegaly [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- Hyperphosphaturia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased hepatocellular lipid droplets [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Leukoencephalopathy [HPO term]
- Liver dysfunction [HPO term]
- Mitochondrial inheritance [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows decrease or absence of cytochrome C oxidase [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Proteinuria [HPO term]
- Ptosis [HPO term]
- Renal Fanconi syndrome [HPO term]
- Renal tubular dysfunction [HPO term]
- Respiratory distress [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cytochrome-C Oxidase Deficiency [NCIt concept]
- Cytochrome-c oxidase deficiency (disorder) [SNOMED CT concept]
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
- Mitochondrial Complex IV Deficiency, Nuclear Type 1 [NCIt concept]
- cytochrome-c oxidase deficiency [SNOMED Notion]
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- cytochrome-c oxidase deficiency [MeSH concept]
- cytochrome-c oxidase deficiency disease [DO Concept]
- mitochondrial complex IV deficiency [Disease (Nov.)]

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