Details of Disease | DrugMAP

General Information of Disease (ID: DIS0ANW5)

Disease Name	Dowling-Degos disease 4
Synonyms	DDD4; Dowling-Degos disease caused by mutation in POGLUT1; Dowling-Degos disease type 4; POGLUT1 Dowling-Degos disease; Dowling-Degos disease 4
Definition	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.
Disease Hierarchy	DISGTTEP: Dowling-Degos disease DIS0ANW5: Dowling-Degos disease 4
Disease Identifiers	MONDO ID MONDO_0014307 UMLS CUI C3810313 OMIM ID 615696 MedGen ID 816643

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
POGLUT1	OTDX7GZD	Strong	Autosomal dominant	[1]
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References

1	Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.