Details of Disease | DrugMAP

General Information of Disease (ID: DISB3HOZ)

Disease Name	Hypopigmentation-punctate palmoplantar keratoderma syndrome
Synonyms	guttate hypopigmentation; COLED; guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification; COLE disease; punctate palmoplantar keratoderma with or without ectopic calcification; guttate hypopigmentation and punctate palmoplantar keratoderma; Cole disease; hypopigmentation and punctate keratosis of the palms and soles
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DISB3HOZ: Hypopigmentation-punctate palmoplantar keratoderma syndrome
Disease Identifiers	MONDO ID MONDO_0014227 UMLS CUI C3809781 OMIM ID 615522 MedGen ID 816111 Orphanet ID 324561 SNOMED CT ID 711154007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ENPP1	TTZTIWS	Limited	Genetic Variation	[1]
ENPP1	TTZTIWS	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENPP1	OT3MPPYX	Strong	Autosomal dominant	[2]
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References

1	ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.J Invest Dermatol. 2018 Feb;138(2):291-300. doi: 10.1016/j.jid.2017.08.045. Epub 2017 Sep 28.
2	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.