Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Synonyms: Fatal mitochondrial disease due to COXPD3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Fatal mitochondrial disease due to COXPD3 |
| fr | Maladie mitochondriale fatale par déficit combiné de la phosphorylation oxydative de type 3 | Maladie mitochondriale fatale par COXPD3 |
| de | Fatale mitochondriale Krankheit durch kombinierten Defekt der oxidativen Phosphorylierung Typ 3 | COXPD3 · Fatale mitochondriale Krankheit durch COXPD3 |
| es | Enfermedad mitocondrial letal por deficiencia combinada de la fosforilación oxidativa tipo 3 | Enfermedad mitocondrial letal por COXPD3 |
| it | Malattia mitocondriale fatale da difetto combinato della fosforilazione ossidativa, tipo 3 | |
| nl | Fatale mitochondriale ziekte door gecombineerde oxidatieve fosforylatiedeficiëntie type 3 | Fatale mitochondriale ziekte door COXPD3 |
| pt | Doença mitocondrial fatal por deficiência combinada da fosforilação oxidadativa 3 | |
| pl | Śmiertelna choroba mitochondrialna spowodowana złożonym deficytem fosforylacji oksydatywnej 3 | Śmiertelna choroba mitochondrialna spowodowana COXPD3 |
| cs | Fatální mitochondriální onemocnění způsobené kombinovaným deficitem oxidativní fosforylace 3 | = en |
| uk | Летальна мітохондріальна хвороба, спричинена комбінованим дефектом окисного фосфорилювання типу 3 | Летальна мітохондріальна хвороба через ХОЗЛ3 |
| zh | 3型氧化磷酸化缺陷所致重症线粒体疾病 | COXPD3所致致命性线粒体疾病 |
| tr | Kombine oksidatif fosforilasyon defekti tip 3'e bağlı fatal mitokondriyal hastalık | COXPD3'e bağlı fatal mitokondriyal hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610505 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | index | validated |
| MONDO | 0012512 | E | validated | |
| UMLS | C4303760 | 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):
Parents in the classifications (3):
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSFM | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12367 | ENSG00000123297 | 604723 | 12q14.1 | Ts translation elongation factor, mitochondrial | 17033963[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 25037205[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25037205[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168566
- This record as JSON: /data/d/168566.json