ORPHA:254905

Isolated cytochrome C oxidase deficiency

Synonyms: Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive, Mitochondrial inheritance
Status: active

A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated cytochrome C oxidase deficiency	Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency
fr	Déficit isolé en cytochrome C oxydase	Déficit isolé en COX · Déficit isolé en complexe IV de la chaîne respiratoire mitochondriale
de	Cytochrom-c-Oxidase-Mangel, isolierter	COX-Mangel, isolierter · Isolierter mitochondrialer Atmungskettendefekt im Komplex IV
es	Deficiencia aislada de citocromo C oxidasa	Deficiencia aislada de COX · Deficiencia aislada del complejo 4 de la cadena respiratoria mitocondrial · Deficiencia aislada del complejo IV de la cadena respiratoria mitocondrial
it	Deficit isolato della citocromo C ossidasi	Deficit isolato del complesso IV della catena respiratoria mitocondriale · Deficit isolato di COX
nl	Geïsoleerde cytochroom C-oxidasedeficiëntie	Geïsoleerde COX-deficiëntie · Geïsoleerde mitochondriale ademhalingsketencomplex IV-deficiëntie
pt	Deficiência isolada da citocromo C oxidase	Deficiência isolada da COX · Deficiência isolada do complexo IV da cadeia respiratória mitocondrial
pl	Izolowany Niedobór oksydazy cytochromu c	Izolowany Niedobór COX · Izolowany Niedobór kompleksu IV mitochondrialnego łańcucha oddechowego
cs	Izolovaný deficit cytochrom C oxidázy	Izolovaný deficit COX · Izolovaný deficit komplexu IV mitochondriálního respiračního řetězce
uk	Ізольований дефіцит цитохрому С оксидази	Ізольований дефіцит COX · Ізольований дефіцит IV комплексу мітохондріального дихального ланцюга
zh	孤立性细胞色素C氧化酶缺乏症	孤立性线粒体呼吸链复合物IV缺乏症
tr	İzole sitokrom C oksidaz eksikliği	İzole COX eksikliği · İzole mitokondriyal solunum zinciri kompleksi IV eksikliği

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	220110	BTNT		validated
OMIM	619046	BTNT		validated
OMIM	619048	BTNT		validated
OMIM	619051	BTNT		validated
OMIM	619052	BTNT		validated
OMIM	619053	BTNT		validated
OMIM	619054	BTNT		validated
OMIM	619055	BTNT		validated
OMIM	619058	BTNT		validated
OMIM	619059	BTNT		validated
OMIM	619060	BTNT		validated
OMIM	619061	BTNT		validated
OMIM	619062	BTNT		validated
OMIM	619063	BTNT		validated
OMIM	619064	BTNT		validated
OMIM	619355	BTNT		validated
ICD-10	E88.8	NTBT	attributed	validated
ICD-11	5C53.2Y	NTBT	index	validated
MONDO	0009068	E		validated
MeSH	D030401	E		validated
UMLS	C5779825	E		validated
GARD	48	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (3):

ORPHA:254846Isolated oxidative phosphorylation complex disorder
rare inborn errors of metabolism; rare genetic diseases
ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

14 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
COX5A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2267	ENSG00000178741	603773	15q24.2	cytochrome c oxidase subunit 5A	28247525[PMID]
COX8A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2294	ENSG00000176340	123870	11q13.1	cytochrome c oxidase subunit 8A	26685157[PMID]
MT-CO2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7421	ENSG00000198712	516040	mitochondria	mitochondrially encoded cytochrome c oxidase II	10205264[PMID]_10486321[PMID]_11471180[PMID]_11558799[PMID]_11579424[PMID]
COA3	Disease-causing germline mutation(s) in	Assessed	HGNC:24990	ENSG00000183978	614775	17q21.2	cytochrome c oxidase assembly factor 3	25604084[PMID]
COX10	Disease-causing germline mutation(s) in	Assessed	HGNC:2260	ENSG00000006695	602125	17p12	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10	10767350[PMID]_12928484[PMID]_15455402[PMID]
COX14	Disease-causing germline mutation(s) in	Assessed	HGNC:28216	ENSG00000178449	614478	12q13.12	cytochrome c oxidase assembly factor COX14	22243966[PMID]
COX16	Disease-causing germline mutation(s) in	Assessed	HGNC:20213	ENSG00000133983	618064	14q24.2	cytochrome c oxidase assembly factor COX16	33169484[PMID]
COX20	Disease-causing germline mutation(s) in	Assessed	HGNC:26970	ENSG00000203667	614698	1q44	cytochrome c oxidase assembly factor COX20	23125284[PMID]
COX4I1	Disease-causing germline mutation(s) in	Assessed	HGNC:2265	ENSG00000131143	123864	16q24.1	cytochrome c oxidase subunit 4I1	31290619[PMID]
COX6A2	Disease-causing germline mutation(s) in	Assessed	HGNC:2279	ENSG00000156885	602009	16p11.2	cytochrome c oxidase subunit 6A2	31155743[PMID]
COX6B1	Disease-causing germline mutation(s) in	Assessed	HGNC:2280	ENSG00000126267	124089	19q13.12	cytochrome c oxidase subunit 6B1	18499082[PMID]_24781756[PMID]
MT-CO1	Disease-causing germline mutation(s) in	Assessed	HGNC:7419	ENSG00000198804	516030	mitochondria	mitochondrially encoded cytochrome c oxidase I	12140182[PMID]_16284789[PMID]_11579424[PMID]
MT-CO3	Disease-causing germline mutation(s) in	Assessed	HGNC:7422	ENSG00000198938	516050	mitochondria	mitochondrially encoded cytochrome c oxidase III	8630495[PMID]_9634511[PMID]_11063732[PMID]_12414820[PMID]_11579424[PMID]
PET117	Disease-causing germline mutation(s) in	Assessed	HGNC:40045	ENSG00000232838	614771	20p11.23	PET117 cytochrome c oxidase chaperone	28386624[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/254905
This record as JSON: /data/d/254905.json