ORPHA:521432
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | |
| fr | Syndrome de cataracte congénitale-hépatopathie néonatale sévère-retard global de développement | |
| de | Kongenitale Katarakt-schwere neonatale Hepatopathie-allgemeine Entwicklungsverzögerung-Syndrom | |
| es | Síndrome congénito de cataratas-hepatopatía neonatal grave-retraso global del desarrollo | |
| it | Sindrome cataratta congenita-grave epatopatia neonatale-ritardo dello sviluppo globale | |
| nl | Congenitaal cataract - ernstige neonatale hepatopathie - algehele ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de catarata-hepatopatia neonatal grave-perturbação global do desenvolvimento congénita | |
| pl | Zespół wrodzonej zaćmy- ciężkiej hepatopatii noworodków-uogólnionego opóźnienia w rozwoju | |
| cs | Syndrom zahrnující vrozenou kataraktu, těžkou novorozeneckou hepatopatii a celkové opoždění vývoje | |
| uk | Синдром вродженої катаракти-тяжкої неонатальної гепатопатії-глобальної затримки розвитку | |
| zh | 先天性白内障-严重新生儿肝病-全身发育迟缓综合征 | |
| tr | Doğumsal katarakt-ağır yenidoğan hepatopati-yaygın gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | DB99.Y | NTBT | attributed | validated |
| MONDO | 33853 | E | validated | |
| UMLS | C5681444 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP51A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2649 | ENSG00000001630 | 601637 | 7q21.2 | cytochrome P450 family 51 subfamily A member 1 | 27878435[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27878435[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 27878435[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521432
- This record as JSON: /data/d/521432.json