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ORPHA:59303

Neonatal ichthyosis-sclerosing cholangitis syndrome

low confidenceDisorder

Also known as: IHSC · Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · NISCH syndrome

Publications

28,156

Trials

0

Interventional, condition-specific

Researchers

1,181

Distinct authors in sample

Gene link

CLDN1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

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.

Additional Mondo synonyms (2)

ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · neonatal ichthyosis-sclerosing cholangitis syndrome

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CLDN1

  2. LiteraturePresent

    28,156 matched papers (21,013 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Sparse eyelashes; Jaundice; Cholestasis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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 (CLDN1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0011874

  • Sparse eyelashes
  • Jaundice
  • Cholestasis
  • Splenomegaly
  • Sparse scalp hair

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

28,156

28,156 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

28,156 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

21,013 in the last 10 years · low confidence

Phrase hits: 243 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,181

Distinct author names in 200 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
    Wang Y7 papers · 2025

    ‡Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.

    Papers in Europe PMC
  2. 02
    Zhang Y6 papers · 2022

    Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003.

    Papers in Europe PMC
  3. 03
    Zhou Y6 papers · 2022

    †Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University (SJTU), 1665 Kongjiang Road, Shanghai 200092, China.

    Papers in Europe PMC
  4. 04
    Hadj-Rabia S5 papers · 2022

    Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

    Papers in Europe PMC
  5. 05
    Cai W4 papers · 2017

    †Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University (SJTU), 1665 Kongjiang Road, Shanghai 200092, China.

    Papers in Europe PMC
  6. 06
    Hohl D4 papers · 2022

    Department of Dermatology, University Hospital Center of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  7. 07
    Vahidnezhad H4 papers · 2022

    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  8. 08
    Wang J4 papers · 2017

    †Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University (SJTU), 1665 Kongjiang Road, Shanghai 200092, China.

    Papers in Europe PMC
  9. 09
    Wen J4 papers · 2017

    ‡Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.

    Papers in Europe PMC
  10. 10
    Xiao Y4 papers · 2022

    ‡Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.

    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 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Neonatal ichthyosis-sclerosing cholangitis syndrome — check Associations / patient organisations on that page.

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.

("Neonatal ichthyosis-sclerosing cholangitis syndrome" OR "Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" OR "NISCH syndrome") OR (MESH:"Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis") OR ("CLDN1" OR "CLDN1 syndrome" OR "CLDN1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis

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

"Neonatal ichthyosis-sclerosing cholangitis syndrome" OR "Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" OR "NISCH syndrome" OR "Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis"

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: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IHSC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (28156) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:30:29.750Z