primary cutaneous amyloidosis

Summary
Synonym
  • PCA
  • familial primary localized cutaneous amyloidosis
Definition
An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
Super Class
amyloidosis inherited metabolic disorder skin disease
External Links
Disease Ontology
DOID:0050639
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying entries 11 - 20 of 22 in total
Gene ID Gene Symbol Description Source
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6715 SRD5A1 steroid 5 alpha-reductase 1
7355 SLC35A2 solute carrier family 35 member A2
7367 UGT2B17 UDP glucuronosyltransferase family 2 member B17
7512 XPNPEP2 X-prolyl aminopeptidase 2
8809 IL18R1 interleukin 18 receptor 1
9254 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2
23600 AMACR alpha-methylacyl-CoA racemase
27306 HPGDS hematopoietic prostaglandin D synthase
29956 CERS2 ceramide synthase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024