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ORPHA:480556

Isolated neonatal sclerosing cholangitis

high confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2

12.1th percentile

Trials

0

Interventional, condition-specific

Researchers

22

Distinct authors in sample

Gene link

DCDC2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Isolated sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe -onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, 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.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — DCDC2

  2. LiteraturePresent

    2 matched papers (2 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 100 for broader category sclerosing cholangitis

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (DCDC2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

2

2 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)

Phrase hits: 2 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

22

Distinct author names in 2 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Asadullina D1 paper · 2026

    Institute of Urology and Clinical Oncology, Bashkir State Medical University, Ufa, Russia.

    Papers in Europe PMC
  2. 02
    Carvalho E1 paper · 2022

    Department of Gastroenterology and Hepatology, Hospital de Base do Distrito Federal, Hospital da Criança de Brasília, Brasília 70330-150, Brazil.

    Papers in Europe PMC
  3. 03
    Cerski C1 paper · 2022

    Pathology Department of Universidade Federal do Rio Grande do Sul (UFRGS), Pathology Service of Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil.

    Papers in Europe PMC
  4. 04
    Docena G1 paper · 2026

    Instituto de Estudios Inmunológicos y Fisiopatológicos-Instituto de Estudios Inmunológicos y Fisiopatológicos (IIFP), Facultad de Ciencias Exactas, Universidad Nacional de La Plata, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), La Plata, Argentina.

    Papers in Europe PMC
  5. 05
    Dos Santos J1 paper · 2022

    Faculty of Health Sciences, Health Science Investigation Center of University of Beira Interior (CICS-UBI), 6200-506 Covilha, Portugal.

    Papers in Europe PMC
  6. 06
    Dubovets A1 paper · 2026

    Laboratory of Immunopathology, Department of Clinical Immunology and Allergology, Sechenov First Moscow State Medical University, Moscow, Russia.

    Papers in Europe PMC
  7. 07
    Enikeeva K1 paper · 2026

    Institute of Urology and Clinical Oncology, Bashkir State Medical University, Ufa, Russia.

    Papers in Europe PMC
  8. 08
    Gainullina D1 paper · 2026

    Institute of Urology and Clinical Oncology, Bashkir State Medical University, Ufa, Russia.

    Papers in Europe PMC
  9. 09
    Gattinger P1 paper · 2026

    Division of Immunopathology, Department of Pathophysiology and Allergy Research, Medical University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  10. 10
    Jacinto J1 paper · 2022

    Medicine Department, University of Beira Interior (UBI), Faculty of Health Sciences, 6201-001 Covilha, Portugal.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 100 trials are registered for sclerosing cholangitis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

100 interventional trials matched sclerosing cholangitis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: sclerosing cholangitis

100

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Isolated neonatal sclerosing cholangitis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Isolated neonatal sclerosing cholangitis" OR "DCDC2"

Recall-expansion terms: DCDC2

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"sclerosing cholangitis"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T17:14:09.692Z