Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

Preferred Label : Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis;

Symbol : ILVASC;

CISMeF acronym : ILVASC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neonatal ichthyosis-sclerosing cholangitis syndrome; Ichthyosis-sclerosing cholangitis syndrome; Nisch syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the claudin-1 gene (CLDN1, 603718.0001);

Prefixed ID : #607626;

Details

Origin ID

607626;

UMLS CUI

C1843355;

Automatic exact mappings (from CISMeF team)
- claudin 1 [ORDO Gene]
- claudin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Neonatal ichthyosis-sclerosing cholangitis syndrome [ORDO Disease]
- Neonatal sclerosing cholangitis – ichthyosis – hypotrichosis syndrome [ICD-11 More detail]
- Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MeSH concept]
- ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MeSH Supplementary Concept]
- neonatal ichthyosis sclerosing cholangitis syndrome [Disease (Nov.)]
Genes related to phenotype
- Claudin 1 [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholangitis [HPO term]
- Congenital ichthyosis [HPO term]
- Dry skin [HPO term]
- Enamel hypoplasia [HPO term]
- Epidermal acanthosis [HPO term]
- Hepatomegaly [HPO term]
- Hypodontia [HPO term]
- Hypotrichosis [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Jaundice [HPO term]
- Oligodontia [HPO term]
- Orthokeratosis [HPO term]
- Parakeratosis [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Thick hair [HPO term]
ORDO concept(s)
- Neonatal ichthyosis-sclerosing cholangitis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal ichthyosis-sclerosing cholangitis syndrome [ORDO Disease]
- Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MeSH Supplementary Concept]
- ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MeSH concept]
- neonatal ichthyosis sclerosing cholangitis syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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