Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Synonyms: COXPD28 · Combined oxidative phosphorylation defect type 28
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | COXPD28 · Combined oxidative phosphorylation defect type 28 |
| fr | Insuffisance cardiopulmonaire néonatale sévère par défaut de méthylation mitochondriale | COXPD28 · Déficit combiné de la phosphorylation oxydative type 28 |
| de | Neonatales schweres kardio-pulmonales Versagen durch mitochondrialen Methylierungsdefekt | COXPD28 · Kombinierter Defekt der oxidativen Phosphorylierung Typ 28 |
| es | Insuficiencia cardiopulmonar grave neonatal por un defecto de la metilación mitocondrial | COXPD28 · Deficiencia combinada de la fosforilación oxidativa tipo 28 |
| it | Insufficienza cardiopolmonare grave del neonato da difetto della metilazione mitocondriale | |
| nl | Neonataal ernstig cardiopulmonair falen als gevolg van een mitochondriaal methylatiedefect | COXPD28 · Gecombineerde oxidatieve fosforylatiedeficiëntie type 28 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 28 |
| pt | Insuficiência cardiopulmonar grave neonatal por defeito da metilação mitocondrial | |
| pl | Ciężka niewydolność sercowo-płucna noworodków spowodowana wadą metylacji mitochondrialnej | COXPD28 · Złożony defekt fosforylacji oksydacyjnej typu 28 |
| cs | Neonatální závažné kardiopulmonální selhání z důvodu defektu mitochondriální metylace | COXPD28 · Combined oxidative phosphorylation defect type 28 · Kombinovaný defekt oxidativní fosforylace typu 28 |
| uk | Неонатальна тяжка серцево-легенева недостатність, зумовлена дефектом метилювання мітохондрій | Комбінований дефект окисного фосфорилювання типу 28 · COXPD28 |
| zh | 线粒体甲基化缺陷引起的新生儿严重心肺衰竭 | 复合氧化磷酸化缺陷28型 |
| tr | Mitokondriyal metilasyon defektine bağlı ağır yenidoğan kardiyopulmoner yetmezlik | COXPD28 · Kombine oksidatif fosforilasyon defekti tip 28 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616794 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014775 | E | validated | |
| UMLS | C5569081 | 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:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:254830Mitochondrial substrate carrier disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A26 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20661 | ENSG00000144741 | 611037 | 3p14.1 | solute carrier family 25 member 26 | 26522469[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26522469[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26522469[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/466784
- This record as JSON: /data/d/466784.json