Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Synonyms: Syndromic sensorineural deafness due to COXPD · Syndromic sensorineural hearing loss due to COXPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Syndromic sensorineural deafness due to COXPD · Syndromic sensorineural hearing loss due to COXPD |
| fr | Surdité neurosensorielle syndromique due à un déficit combiné de la phosphorylation oxydative | Surdité neurosensorielle syndromique due à un COXPD |
| de | Syndromale sensorineurale Schwerhörigkeit durch kombinierten Defekt der oxidativen Phosphorylierung | Schwerhörigkeit, syndromale sensorineurale, durch COXPD · Syndromaler neurosensorischer Hörverlust durch COXPD |
| es | Sordera neurosensorial sindrómica por una deficiencia combinada de la fosforilación oxidativa | Hipoacusia neurosensorial sindrómica por COXPD · Sordera neurosensorial sindrómica por COXPD |
| it | Sordità neurosensoriale sindromica da difetto combinato della fosforilazione ossidativa | |
| nl | Syndromale sensorineurale doofheid door gecombineerde oxidatieve fosforylatiedeficiëntie | Syndromaal sensorineuraal gehoorverlies door COXPD · Syndromale sensorineurale doofheid door COXPD · Syndromale sensorineurale doofheid door gecombineerde oxidatieve fosforyleringdeficiëntie |
| pt | Surdez neurossensorial sindromática por défice combinado na fosforilação oxidativa | |
| pl | Syndromiczna czuciowo-nerwowa utrata słuchu spowodowana złożonym niedoborem fosforylacji oksydacyjnej | Syndromiczna czuciowo-nerwowa głuchota spowodowana COXPD · Syndromiczna czuciowo-nerwowa utrata słuchu spowodowana COXPD |
| cs | Syndromická senzorineurální hluchota způsobená kombinovým deficitem oxidativní fosforylace | Syndromická senzorineurální hluchota způsobená COXPD · Syndromická senzorineurální ztráta sluchu způsobená COXPD |
| uk | Синдромальна сенсоневральна глухота, зумовлена комбінованим дефектом окисного фосфорилювання | Синдромальна сенсоневральна глухота внаслідок COXPD · Синдромальна сенсоневральна приглухуватість внаслідок COXPD |
| zh | 联合氧化磷酸化缺陷导致的综合征性感音神经性耳聋 | COXPD导致的综合征性感音性耳聋 |
| tr | Kombine oksidatif fosforilasyon defektine bağlı sendromik sensörinöral sağırlık | COXPD'ye bağlı sendromik sensörinöral sağırlık · COXPD'ye bağlı sendromik sensörinöral işitme kaybı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617872 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0018706 | E | validated | |
| MONDO | 18706 | E | validated | |
| MONDO | 54741 | E | validated | |
| UMLS | C4693450 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MRPS7 | Disease-causing germline mutation(s) in | Assessed | HGNC:14499 | ENSG00000125445 | 611974 | 17q25.1 | mitochondrial ribosomal protein S7 | 25556185[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25556185[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25556185[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/457223
- This record as JSON: /data/d/457223.json