Details of Disease

General Information of Disease (ID: DISFCNXC)

Disease Name Neonatal ichthyosis-sclerosing cholangitis syndrome
Synonyms
Nisch syndrome; ichthyosis-sclerosing cholangitis syndrome; Ilvasc; ILVASC; ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; IHSC; NISCH syndrome; neonatal ichthyosis-sclerosing cholangitis syndrome
Definition Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS7GZNB: Sclerosing cholangitis
DISKGT16: Inherited ichthyosis
DISFCNXC: Neonatal ichthyosis-sclerosing cholangitis syndrome
Disease Identifiers
MONDO ID
MONDO_0011874
MESH ID
C564365
UMLS CUI
C1843355
OMIM ID
607626
MedGen ID
334382
Orphanet ID
59303
SNOMED CT ID
724278007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLDN1 OT27KV99 Strong Autosomal recessive [1]
CLDN7 OTNE0XHQ Strong Biomarker [2]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Tight Junction barriers in human hair follicles - role of claudin-1.Sci Rep. 2018 Aug 24;8(1):12800. doi: 10.1038/s41598-018-30341-9.