Details of Disease | DrugMAP

General Information of Disease (ID: DIS07A0Y)

Disease Name	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Synonyms	peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome; plack; plack syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISTXWNT: Integumentary system disorder DIS07A0Y: Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Disease Identifiers	MONDO ID MONDO_0014574 UMLS CUI C4225381 OMIM ID 616295 MedGen ID 902464 Orphanet ID 444138 SNOMED CT ID 1237509001

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
CAST	OTBXZZGF	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.