Details of Disease | DrugMAP

General Information of Disease (ID: DIS9QHVD)

Disease Name	Familial generalized lentiginosis
Synonyms	lentiginosis, diffuse; lentiginosis, generalized; lentiginosis, inherited patterned; lentiginosis, generalised; lentiginosis profusa; familial lentigines profusa; familial multiple lentigines syndrome without systemic involvement
Definition	Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.
Disease Hierarchy	DISQ205R: Hyperpigmentation of the skin DIS9QHVD: Familial generalized lentiginosis
Disease Identifiers	MONDO ID MONDO_0007891 MESH ID C573023 UMLS CUI C3492944 OMIM ID 151001 MedGen ID 486897 Orphanet ID 231040

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
SASH1	OTQA8BD4	Supportive	Autosomal dominant	[1]
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References

1	SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. J Invest Dermatol. 2015 Dec;135(12):3192-3194. doi: 10.1038/jid.2015.292. Epub 2015 Jul 23.