Combined oxidative phosphorylation defect type 17
Synonyms: COXPD17
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 17 | COXPD17 |
| fr | Déficit combiné de la phosphorylation oxydative type 17 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 17 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 17 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 17 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 17 | COXPD17 · Gecombineerd defect in oxidatieve fosforylering type 17 |
| pt | Defeito combinado da fosforilação oxidativa, tipo 17 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 17 | = en |
| cs | Kombinovaná porucha oxidativní fosforylace, typ 17 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 17 | = en |
| zh | 结合氧化磷酸化不足17型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 17 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615440 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014190 | E | validated | |
| UMLS | C3809526 | 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 (2):
- ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELAC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:14198 | ENSG00000006744 | 605367 | 17p12 | elaC ribonuclease Z 2 | 23849775[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | 23849775[PMID]_27769300[PMID]_28441660[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27769300[PMID]_28441660[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/369913
- This record as JSON: /data/d/369913.json