Details of Disease | DrugMAP

General Information of Disease (ID: DISJ2M3P)

Disease Name	Amyloidosis, primary localized cutaneous, 2
Synonyms	PLCA2; amyloidosis, primary localized cutaneous, type 2; amyloidosis, primary localised cutaneous, type 2; amyloidosis, primary localized cutaneous, 2
Disease Hierarchy	DISDIR8A: Familial primary localized cutaneous amyloidosis DISJ2M3P: Amyloidosis, primary localized cutaneous, 2
Disease Identifiers	MONDO ID MONDO_0013502 UMLS CUI C3151404 OMIM ID 613955 MedGen ID 462754

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
IL31RA	TT9HPX0	Limited	Autosomal dominant	[1]
IL31RA	TT9HPX0	Limited	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL31RA	OTC8BWQS	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet. 2010 Jan;18(1):26-32. doi: 10.1038/ejhg.2009.135.