Combined oxidative phosphorylation defect type 11
Synonyms: COXPD11
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 11 | COXPD11 |
| fr | Déficit combiné de la phosphorylation oxydative type 11 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 11 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 11 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 11 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 11 | COXPD11 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 11 |
| pt | Defeito combinado da fosforilação oxidativa, tipo 11 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 11 | = en |
| cs | Kombinovaná porucha oxidativní fosforylace, typ 11 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 11 | = en |
| zh | 复合氧化磷酸化缺陷11型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 11 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614922 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0013969 | E | validated | |
| UMLS | C5190991 | 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RMND1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21176 | ENSG00000155906 | 614917 | 6q25.1 | required for meiotic nuclear division 1 homolog | 23022098[PMID]_23022099[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 27412952[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27412952[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/324535
- This record as JSON: /data/d/324535.json