Details of Disease

General Information of Disease (ID: DISSK0FP)

Disease Name Dowling-Degos disease 2
Synonyms DDD2; Dowling-Degos disease caused by mutation in POFUT1; Dowling-Degos disease 2; Dowling-Degos disease type 2; POFUT1 Dowling-Degos disease
Definition Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.
Disease Hierarchy
DISGTTEP: Dowling-Degos disease
DISSK0FP: Dowling-Degos disease 2
Disease Identifiers
MONDO ID
MONDO_0014130
UMLS CUI
C3809147
OMIM ID
615327
MedGen ID
815477

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
POFUT1 OTOBJZIT Strong Autosomal dominant [1]
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References

1 Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013 Jun 6;92(6):895-903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16.