Details of Disease | DrugMAP

General Information of Disease (ID: DISDIR8A)

Disease Name	Familial primary localized cutaneous amyloidosis
Synonyms	primary localised cutaneous amyloidosis; primary localized cutaneous amyloidosis; FPLCA; hereditary primary cutaneous amyloidosis
Disease Hierarchy	DISV9HNG: Primary cutaneous amyloidosis DIS1GS6H: Hereditary amyloidosis DISSCALK: Hereditary skin disorder DISDIR8A: Familial primary localized cutaneous amyloidosis
Disease Identifiers	MONDO ID MONDO_0007101 UMLS CUI C1304242 MedGen ID 725603 Orphanet ID 353220 SNOMED CT ID 402463003

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	Supportive	Autosomal dominant	[1]
OSMR	TTAH0KM	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL31RA	OTC8BWQS	Supportive	Autosomal dominant	[1]
OSMR	OTORWHPL	Supportive	Autosomal dominant	[2]
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References

1	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.
2	The molecular skin pathology of familial primary localized cutaneous amyloidosis. Exp Dermatol. 2010 May;19(5):416-23. doi: 10.1111/j.1600-0625.2010.01083.x.