Isolated neonatal sclerosing cholangitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated neonatal sclerosing cholangitis | |
| fr | Cholangite sclérosante néonatale isolée | |
| de | Sklerosierende Cholangitis, isolierte neonatale | |
| es | Colangitis esclerosante neonatal aislada | |
| it | Colangite sclerosante neonatale isolata | |
| nl | Geïsoleerde neonatale scleroserende cholangitis | |
| pt | Colangite isolada neonatal | |
| pl | Izolowane stwardniające zapalnie dróg żółciowych noworodków | |
| cs | Izolovaná neonatální sklerotizující cholangoitida | |
| uk | Ізольований неонатальний склерозуючий холангіт | |
| zh | 孤立性新生儿硬化性胆管炎 | |
| tr | İzole yenidoğan sklerozan kolanjit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617394 | E | validated | |
| ICD-10 | K83.0 | NTBT | attributed | validated |
| ICD-11 | DB96.2Y | NTBT | attributed | validated |
| MONDO | 0018816 | E | validated | |
| UMLS | C5681248 | 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:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:447771Sclerosing cholangitis
rare hepatic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCDC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18141 | ENSG00000146038 | 605755 | 6p22.3 | doublecortin domain containing 2 | 27319779_27469900[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27319779[PMID]_27469900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27319779[PMID]_27469900[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/480556
- This record as JSON: /data/d/480556.json