Top ▲

Primary cutaneous amyloidosis

Disease ID:1214
Name:Primary cutaneous amyloidosis
Associated with:1 target
familial primary localized cutaneous amyloidosis
A skin condition characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
Database Links
Disease Ontology: DOID:0050639
Orphanet: ORPHA137807


Oncostatin-M receptor
Role:  Germline mutations in OSMR are reported to underlie PCA.
References:  1-2


No ligand related data available for Primary cutaneous amyloidosis


Show »

1. Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR et al.. (2008) Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet, 82 (1): 73-80. [PMID:18179886]

2. Tanaka A, Arita K, Lai-Cheong JE, Palisson F, Hide M, McGrath JA. (2009) New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis. Br J Dermatol, 161 (6): 1217-24. [PMID:19663869]