Keratosis linearis with ichthyosis congenita and sclerosing keratoderma

Preferred Label : Keratosis linearis with ichthyosis congenita and sclerosing keratoderma;

Symbol : KLICK;

CISMeF acronym : KLICK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Klick syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proteasome maturation protein gene (POMP, 613386.0001);

Prefixed ID : #601952;

Détails

Origin ID

601952;

UMLS CUI

C1866029;

Currated CISMeF NLP mapping
- Keratosis linearis – ichthyosis congenita – keratoderma [ICD-11 More detail]
- Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) [SNOMED CT concept]
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [ORDO Disease]
- keratosis linearis with ichthyosis congenita and sclerosing keratoderma [MeSH concept]
- keratosis linearis with ichthyosis congenita and sclerosing keratoderma [MeSH Supplementary Concept]
Genes related to phenotype
- Proteasome maturation protein [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Amniotic constriction ring [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital ichthyosis [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Honeycomb palmoplantar hyperkeratosis [HPO term]
- Hyperconvex nail [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Linear arrays of macular hyperkeratoses in flexural areas [HPO term]
- Nail dystrophy [HPO term]
- Nail dystrophy with overcurvature [HPO term]
- Parakeratosis [HPO term]
ORDO concept(s)
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) [SNOMED CT concept]
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome [ORDO Disease]
- keratosis linearis with ichthyosis congenita and sclerosing keratoderma [MeSH Supplementary Concept]
- keratosis linearis with ichthyosis congenita and sclerosing keratoderma [MeSH concept]

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