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isolated neonatal sclerosing cholangitis (NSC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated neonatal sclerosing cholangitis

MONDO:0018816

Also known as:NSCsclerosing cholangitis, neonatal

Overview

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.

GeneticsAutosomal recessive · DCDC2 (chr 6)

OnsetNEONATAL

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Cholestasis, Hepatic failure, Sclerosing cholangitis, and Elevated gamma-glutamyltransferase level and others; and common findings: Liver scarring (cirrhosis) (cirrhosis), Hepatic bridging fibrosis, Acholic stools, and Ductal bile plugs and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	9	Cholestasis, Hepatic failure, Ascites

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DCDC2 encodes doublecortin domain containing 2 (476 aa). Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex. Highest expression in Kidney Medulla (32.6 TPM) and Kidney Cortex (19.0 TPM).

Isolated neonatal sclerosing cholangitis is associated with mutations in the DCDC2 gene on chromosome 6.

The DCDC2 protein participates in Primary multipotent pancreatic progenitor cell produces trunk bipotent pancreatic progenitor cell and Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathways.

DCDC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DCDC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isolated neonatal sclerosing cholangitis.

8 publications have been identified in PubMed for isolated neonatal sclerosing cholangitis. Research spans Basic Science / Preclinical (38%), Other (25%), and Case Report / Case Series (25%).

Recent Publications

Gestels T (2026). [PMID: 41883189](https://pubmed.ncbi.nlm.nih.gov/41883189/). *J Pediatr Gastroenterol Nutr*. [Case Report / Case Series]
Mathews J (2025). [PMID: 38031705](https://pubmed.ncbi.nlm.nih.gov/38031705/). *Indian J Dermatol Venereol Leprol*. [Other]
Kaur P (2025). [PMID: 39552453](https://pubmed.ncbi.nlm.nih.gov/39552453/). *J Pediatr Gastroenterol Nutr*. [Epidemiology / Natural History]
Ghosh U (2025). [PMID: 41035246](https://pubmed.ncbi.nlm.nih.gov/41035246/). *Clin Exp Pediatr*. [Case Report / Case Series]
Danish M (2025). [PMID: 39508651](https://pubmed.ncbi.nlm.nih.gov/39508651/). *Indian J Dermatol Venereol Leprol*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617394

Orphanet

European rare disease database

Orphanet:480556

GARD

Genetic and Rare Diseases Info Center

GARD:21983

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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isolated neonatal sclerosing cholangitis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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