White sponge nevus 1

Preferred Label : White sponge nevus 1;

Symbol : WSN1;

CISMeF acronym : WSN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leukokeratosis, hereditary mucosal; White sponge nevus of cannon;

Description : White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995).;

Inheritance : Autosomal dominant;

Prefixed ID : #193900;

Details

Origin ID

193900;

UMLS CUI

C4011926;

Currated CISMeF NLP mapping
- Hereditary Leukokeratosis [NCIt concept]
- White sponge naevus [MedDRA Preferred Term]
- White sponge nevus [PASCAL descriptor]
- White sponge nevus [ORDO Disease]
- White sponge nevus [MedDRA LLT]
- White sponge nevus of mucosa (disorder) [SNOMED CT concept]
- hereditary mucosal leukokeratosis [DO Concept]
- leukokeratosis, hereditary mucosal [MeSH Descriptor]
- leukokeratosis, hereditary mucosal [MeSH concept]
- white sponge nevus [Disease (Nov.)]
- white sponge nevus of mucosa [SNOMED Notion]
DO Cross reference
- hereditary mucosal leukokeratosis [DO Concept]
Genes related to phenotype
- Keratin 4, type II [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Oral leukoplakia [HPO term]
Not associated HPO term(s)
- Abnormal conjunctiva morphology [HPO term]
ORDO concept(s)
- White sponge nevus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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