Details of Disease | DrugMAP

General Information of Disease (ID: DISCN7KL)

Disease Name	Dowling-Degos disease 1
Synonyms	DDD; reticular pigment anomaly of flexures; DDD1; KRT5 Dowling-Degos disease; Dowling-Degos disease caused by mutation in KRT5; Dowling-Degos disease 1
Definition	Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.
Disease Hierarchy	DISGTTEP: Dowling-Degos disease DISCN7KL: Dowling-Degos disease 1
Disease Identifiers	MONDO ID MONDO_0024534 MESH ID C562924 UMLS CUI C4552092 OMIM ID 179850 MedGen ID 1645697

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
KRT5	OTVGI9HT	Strong	Autosomal dominant	[1]
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References

1	Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19.