Details of Disease

General Information of Disease (ID: DISKTUHS)

• Disease Name: Amyloidosis, primary localized cutaneous, 1
• Synonyms: PCA; lichen amyloidosis, familial; amyloidosis, familial cutaneous lichen; amyloidosis 9; OSMR primary cutaneous amyloidosis; amyloidosis, primary localized cutaneous, type 1; amyloidosis, primary localized cutaneous, 1; PLCA1; primary cutaneous amyloidosis caused by mutation in OSMR; amyloidosis, primary localised cutaneous, type 1; amyloidosis, primary cutaneous, 1
• Definition: Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.
• Disease Hierarchy:
  DISDIR8A: Familial primary localized cutaneous amyloidosis
  DISKTUHS: Amyloidosis, primary localized cutaneous, 1
• Disease Identifiers:
  MONDO ID: MONDO_0024522
  UMLS CUI: C4551501
  OMIM ID: 105250
  MedGen ID: 1639046

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL31RA	TT9HPX0	Strong	GermlineCausalMutation	[1]
OSMR	TTAH0KM	Strong	Autosomal dominant	[2]
OSMR	TTAH0KM	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OSMR	OTORWHPL	Strong	Autosomal dominant	[2]

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 Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.