Details of Disease | DrugMAP

General Information of Disease (ID: DIS6O9UM)

Disease Name	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Synonyms	keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK; Klick syndrome; KLICK syndrome; keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Definition	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
Disease Hierarchy	DISIDQ39: Epidermal disease DISSCALK: Hereditary skin disorder DIS6O9UM: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Disease Identifiers	MONDO ID MONDO_0011169 MESH ID C566600 UMLS CUI C1866029 OMIM ID 601952 MedGen ID 356430 Orphanet ID 281201 SNOMED CT ID 763775000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMP	OTMPM1P5	Strong	Autosomal recessive	[1]
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References

1	A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet. 2010 Apr 9;86(4):596-603. doi: 10.1016/j.ajhg.2010.02.018. Epub 2010 Mar 11.