PSTPIP1

proline-serine-threonine phosphatase interacting protein 1
OMIM: 606347
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416, Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1), PAPA syndrome, Hyperzincaemia hypercalprotectinaemia, Destructive arthritis, inflammatory skin rash, myositis, Autoinflammatory Disorders