neonatal ichthyosis-sclerosing cholangitis syndrome
Findings
No curated finding names neonatal ichthyosis-sclerosing cholangitis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
Definition from the Mondo Disease Ontology (MONDO:0011874), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- 4 of 4 reported patients
- CholestasisHPOHP:0001396
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Hepatic fibrosisHPOHP:0001395
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- 2 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Portal hypertensionHPOHP:0001409
- 3 of 4 reported patients
- Occasional (5% to 29% of cases)
- Bile duct proliferationHPOHP:0001408
- 2 of 3 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 2 of 3 reported patients
- HypodontiaHPOHP:0000668
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CLDN1HGNC:2032
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: neonatal ichthyosis-sclerosing cholangitis syndrome
- Also called
- ichthyosis-hypotrichosis-sclerosing cholangitis syndromeIHSCNISCH syndrome