Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Synonyms: COQ4-related neonatal encephalomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | COQ4-related neonatal encephalomyopathy |
| fr | Syndrome d'encéphalomyopathie néonatale-cardiomyopathie-détresse respiratoire | Encéphalomyopathie néonatale associée à COQ4 |
| de | Neonatale Enzephalomyopathie-Kardiomyopathie-Atemnot-Syndrom | COQ4-assoziierte neonatale Enzephalomyopathie |
| es | Síndrome de encefalomiopatía-miocardiopatía-dificultad respiratoria neonatal | Encefalomiopatía neonatal asociada al gen COQ4 |
| it | Sindrome encefalomiopatia neonatale-cardiomiopatia-distress respiratorio | |
| nl | Neonatale encefalomyopathie - cardiomyopathie - ademhalingsnood-syndroom | COQ4-gerelateerde neonatale encefalomyopathie |
| pt | Síndrome de encefalomiopatia neonatal-cardiomiopatia-dificuldade respiratória | |
| pl | Zespół encefalopatii noworodków, kardiomiopatii i niewydolności oddechowej | Encefalopatia noworodków związana z COQ4 |
| cs | Neonatální encefalomyopatie, kardiomyopatie a syndrom respirační tísně | COQ4-vázaná neonatální encefalomyopatie |
| uk | Неонатальна енцефаломіопатія-кардіоміопатія-респіраторний дистрес-синдром | COQ4-залежна неонатальна енцефаломіопатія |
| zh | 新生儿脑性肌病-心肌病-呼吸窘迫综合征 | COQ4相关先天性脑病 |
| tr | Yenidoğan ensefalomiyopati-kardiyomiyopati-solunum sıkıntısı sendromu | COQ4-ilişkili yenidoğan ensefalomiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616276 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014562 | E | validated | |
| UMLS | C5568562 | 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:35656Coenzyme Q10 deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COQ4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19693 | ENSG00000167113 | 612898 | 9q34.11 | coenzyme Q4 | 25658047[PMID]_26185144[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 26185144[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26185144[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/457185
- This record as JSON: /data/d/457185.json