ORPHA:1561
Fatal infantile cytochrome C oxidase deficiency
Synonyms: Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal infantile cytochrome C oxidase deficiency | Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency |
| fr | Déficit en cytochrome C oxydase fatal infantile | Cardio-encéphalo-myopathie fatale infantile par déficit en cytochrome oxydase C · Déficit en COX fatal infantile |
| de | Cytochrom-c-Oxidase-Mangel, infantile fatale Form | COX-Mangel, infantiler fataler · Fatale infantile Kardioenzephalomyopathie durch Cytochrom-c-Oxidase-Mangel |
| es | Deficiencia de citocromo C oxidasa fatal del lactante | Cardioencefalomiopatía fatal del lactante por deficiencia de citocromo C oxidasa · Deficiencia de COX fatal del lactante |
| it | Deficit di citocromo C ossidasi, infantile letale | Cardioencefalomiopatia infantile letale da deficit di citocromo C ossidasi · Deficit di COX, infantile letale |
| nl | Fatale infantiele deficiëntie van cytochroom C-oxidase | Fatale infantiele COX-deficiëntie · Fatale infantiele cardio-encefalomyopathie door deficiëntie van cytochroom C-oxidase |
| pt | Deficiência de citocromo C oxidase fatal da infância | Cardio-encéfalo-miopatia por deficiência de citocromo C oxidase fatal · Deficiência de COX fatal da infância |
| pl | Dziecięcy Niedobór oksydazy cytochromu C | Śmiertelna dziecięca kardioencefalomiopatia z powodu niedoboru oksydazy cytochromu c · Śmiertelny dziecięcy Niedobór COX |
| cs | Fatální infantilní deficit cytochrom C oxidázy | Fatální infantilní deficit COX · Fatální infantilní kardioencefalomyopatie způsobená deficitem cytochrom C oxidázy |
| uk | Фатальний дефіцит цитохрому С оксидази у новонароджених | Фатальна дитяча кардіоенцефаломіопатія внаслідок дефіциту цитохрому С оксидази · Фатальний дефіцит COX у новонароджених |
| zh | 致死性婴儿细胞色素C氧化酶缺乏症 | 细胞色素C氧化酶缺乏所致致死性婴儿心脑肌病 |
| tr | Ölümcül infantil sitokrom C oksidaz eksikliği | Letal infantil COX eksikliği · Sitokrom C oksidaz eksikliğine bağlı letal infantil kardiyoensefalomiyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604377 | BTNT | validated | |
| OMIM | 615119 | BTNT | validated | |
| OMIM | 616500 | BTNT | validated | |
| OMIM | 616501 | BTNT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0015487 | E | validated | |
| MONDO | 15487 | E | validated | |
| UMLS | C4273730 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
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.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COA5 | Disease-causing germline mutation(s) in | Assessed | HGNC:33848 | ENSG00000183513 | 613920 | 2q11.2 | cytochrome c oxidase assembly factor 5 | 21457908[PMID] |
| COA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:18025 | ENSG00000168275 | 614772 | 1q42.2 | cytochrome c oxidase assembly factor 6 | 24549041[PMID]_25339201[PMID] |
| COX15 | Disease-causing germline mutation(s) in | Assessed | HGNC:2263 | ENSG00000014919 | 603646 | 10q24.2 | cytochrome c oxidase assembly factor COX15 | 2175025[PMID]_21412973[PMID] |
| SCO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10603 | ENSG00000133028 | 603644 | 17p13.1 | synthesis of cytochrome C oxidase 1 | 11013136[PMID]_19295170[PMID]_23878101[PMID] |
| SCO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10604 | ENSG00000284194 | 604272 | 22q13.33 | synthesis of cytochrome C oxidase 2 | 10545952[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 2175025[PMID]_15235026[PMID]_15863660[PMID]_21412973[PMID]_21457908[PMID]_26160915[PMID]_25339201[PMID]_10545952[PMID]_10749987[PMID]_18924171[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 2175025[PMID]_15235026[PMID]_15863660[PMID]_21412973[PMID]_21457908[PMID]_26160915[PMID]_25339201[PMID]_10545952[PMID]_10749987[PMID]_18924171[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1561
- This record as JSON: /data/d/1561.json