Details of Disease | DrugMAP

General Information of Disease (ID: DIS6AGQ2)

Disease Name	Palmoplantar keratoderma-sclerodactyly syndrome
Synonyms	SCLEROTYLOSIS; Scleroatrophic and keratotic dermatosis of limbs; HURIEZ syndrome; Tys; HRZ; atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles; Scleroatrophic syndrome; palmoplantar hyperkeratosis-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome
Disease Hierarchy	DIS6O9JS: Diffuse palmoplantar keratoderma DIS6AGQ2: Palmoplantar keratoderma-sclerodactyly syndrome
Disease Identifiers	MONDO ID MONDO_0008416 MESH ID C537526 UMLS CUI C0406767 OMIM ID 181600 MedGen ID 98360 Orphanet ID 384 SNOMED CT ID 239076000

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
SMARCAD1	OT90AZTX	Supportive	Autosomal dominant	[1]
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References

1	SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer?Susceptibility. J Invest Dermatol. 2018 Jun;138(6):1428-1431. doi: 10.1016/j.jid.2018.01.015. Epub 2018 Feb 1.