ORPHA:1460
Isolated complex III deficiency
Synonyms: Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency · Isolated mitochondrial respiratory chain complex III deficiency · Isolated ubiquinone-cytochrome C reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Mitochondrial inheritance
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated complex III deficiency | Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency · Isolated mitochondrial respiratory chain complex III deficiency · Isolated ubiquinone-cytochrome C reductase deficiency |
| fr | Déficit isolé en complex III | Déficit isolé en CoQ-cytochrome C oxydoréductase · Déficit isolé en coenzyme Q-cytochrome C oxydoréductase · Déficit isolé en complexe III de la chaîne respiratoire mitochondriale · Déficit isolé en ubiquinone-cytochrome C oxydoréductase |
| de | Isolierter mitochondrialer Atmungskettendefekt im Komplex III | CoQ-Cytochrom C-Reduktase-Mangel, isolierter · Coenzym Q-Cytochrom C-Reduktase-Mangel, isolierter · Coenzym-Q-Cytochrom-C-Reduktase-Mangel, isolierter · Ubiquinon-Cytochrom-C-Reduktase-Mangel, isolierter |
| es | Deficiencia aislada del complejo III | Deficiencia aislada de CoQ-citocromo C reductasa · Deficiencia aislada de coenzima Q-citocromo C reductasa · Deficiencia aislada de ubiquinona-citocromo C reductasa · Deficiencia aislada del complejo III de la cadena respiratoria mitocondrial |
| it | Deficit isolato del complesso III | |
| nl | Geïsoleerde complex III-deficiëntie | Geïsoleerde CoQ-cytochroom C-reductasedeficiëntie · Geïsoleerde co-enzym Q-cytochroom C-reductasedeficiëntie · Geïsoleerde mitochondriale ademhalingsketencomplex III-deficiëntie · Geïsoleerde ubiquinon-cytochroom C-reductasedeficiëntie |
| pt | Deficiência de complexo III isolada | Deficiência de CoQ-citocromo C redutase isolada · Deficiência de coenzima Q-citocromo C redutase isolada · Deficiência de complexo III da cadeia respiratória mitocondrial isolada · Deficiência de ubiquinona-citocromo C redutase isolada |
| pl | Izolowany niedobór reduktazy CoQ-cytochromu C | Izolowany Niedobór kompleksu III mitochondrialnego łańcucha oddechowego · Izolowany Niedobór reduktazy koenzymu Q-cytochromu C · Izolowany Niedobór reduktazy ubichinionu-cytochromu C |
| cs | Izolovaný deficit CoQ-cytochrom C reduktázy | Izolovaný deficit koenzym Q-cytochrom C reduktázy · Izolovaný deficit ubichinon-cytochrom C reduktázy · Izolovaný deficit komplexu III mitochondriálního respiračního řetězce |
| uk | Ізольований дефіцит комплексу III | Ізольований дефіцит коензиму Q-цитохрому С-редуктази · Ізольований дефіцит КоQ-цитохрому С-редуктази · Ізольований дефіцит комплексу III мітохондріального дихального ланцюга · Ізольований дефіцит убіхінон-цитохром С-редуктази |
| zh | 孤立型III型复合物缺乏症 | 孤立型线粒体呼吸链复合物3缺乏症 |
| tr | İzole kompleks III eksikliği | İzole CoQ-sitokrom C redüktaz eksikliği · İzole koenzim Q-sitokrom C redüktaz eksikliği · İzole ubikinon-sitokrom C redüktaz eksikliği · İzole mitokondriyal solunum zinciri kompleksi III eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124000 | BTNT | validated | |
| OMIM | 615157 | BTNT | validated | |
| OMIM | 615158 | BTNT | validated | |
| OMIM | 615159 | BTNT | validated | |
| OMIM | 615160 | BTNT | validated | |
| OMIM | 615453 | BTNT | validated | |
| OMIM | 615824 | BTNT | validated | |
| OMIM | 615838 | BTNT | validated | |
| OMIM | 616111 | BTNT | validated | |
| OMIM | 618775 | BTNT | validated | |
| OMIM | 620137 | BTNT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0015448 | E | validated | |
| MeSH | C565128 | E | validated | |
| UMLS | C1852372 | E | validated | |
| GARD | 8295 | 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: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.
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Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCS1L | Disease-causing germline mutation(s) in | Assessed | HGNC:1020 | ENSG00000074582 | 603647 | 2q35 | BCS1 ubiquinol-cytochrome c reductase complex chaperone | 17403714[PMID]_19162478[PMID]_25914718[PMID] |
| CYC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2579 | ENSG00000179091 | 123980 | 8q24.3 | cytochrome c1 | 23910460[PMID]_25914718[PMID] |
| LYRM7 | Disease-causing germline mutation(s) in | Assessed | HGNC:28072 | ENSG00000186687 | 615831 | 5q23.3-q31.1 | LYR motif containing 7 | 24014394[PMID]_25914718[PMID] |
| MT-CYB | Disease-causing germline mutation(s) in | Assessed | HGNC:7427 | ENSG00000198727 | 516020 | mitochondria | mitochondrially encoded cytochrome b | 20862300[PMID]_25914718[PMID] |
| TTC19 | Disease-causing germline mutation(s) in | Assessed | HGNC:26006 | ENSG00000011295 | 613814 | 17p12 | tetratricopeptide repeat domain 19 | 21278747[PMID]_25914718[PMID] |
| UQCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21237 | ENSG00000137288 | 614461 | 6p21.31 | ubiquinol-cytochrome c reductase complex assembly factor 2 | 24385928[PMID]_25914718[PMID] |
| UQCC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:34399 | ENSG00000204922 | 616097 | 11q12.3 | ubiquinol-cytochrome c reductase complex assembly factor 3 | 25008109[PMID]_25914718[PMID] |
| UQCRB | Disease-causing germline mutation(s) in | Assessed | HGNC:12582 | ENSG00000156467 | 191330 | 8q22.1 | ubiquinol-cytochrome c reductase binding protein | 12709789[PMID]_25914718[PMID] |
| UQCRC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12586 | ENSG00000140740 | 191329 | 16p12.2 | ubiquinol-cytochrome c reductase core protein 2 | 23281071[PMID]_25914718[PMID] |
| UQCRFS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12587 | ENSG00000169021 | 191327 | 19q12 | ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | 32001716[PMID] |
| UQCRQ | Disease-causing germline mutation(s) in | Assessed | HGNC:29594 | ENSG00000164405 | 612080 | 5q31.1 | ubiquinol-cytochrome c reductase complex III subunit VII | 18439546[PMID]_25914718[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 74 cases | Worldwide | Case(s) | Validated | 31883641[PMID]_34750991[PMID]_11528392[PMID]_21278747[PMID]_23532514[PMID]_24368687[PMID]_24397319[PMID]_12709789[PMID]_18439546[PMID]_23281071[PMID]_23910460[PMID]_26912632[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31883641[PMID]_34750991[PMID]_11528392[PMID]_21278747[PMID]_23532514[PMID]_24368687[PMID]_24397319[PMID]_12709789[PMID]_18439546[PMID]_23281071[PMID]_23910460[PMID]_26912632[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/1460
- This record as JSON: /data/d/1460.json