Details of Disease | DrugMAP

General Information of Disease (ID: DISZ2WA2)

Disease Name	Amyloidosis, primary localized cutaneous, 3
Synonyms	amyloidosis cutis dyschromica; PLCA3; amyloidosis, PRIMARY LOCALIZED cutaneous, 3
Disease Hierarchy	DISDIR8A: Familial primary localized cutaneous amyloidosis DISZ2WA2: Amyloidosis, primary localized cutaneous, 3
Disease Identifiers	MONDO ID MONDO_0054765 UMLS CUI C4554421 OMIM ID 617920 MedGen ID 1640641

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
GPNMB	TT7315J	Strong	Autosomal recessive	[1]
GPNMB	TT7315J	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPNMB	OTB7KQKV	Strong	Autosomal recessive	[1]
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References

1	Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. Am J Hum Genet. 2018 Feb 1;102(2):219-232. doi: 10.1016/j.ajhg.2017.12.012. Epub 2018 Jan 11.