Details of Disease

General Information of Disease (ID: DISL2U2O)

• Disease Name: Psoriasis 14, pustular
• Synonyms: GPP; generalized pustular psoriasis; generalised pustular psoriasis; palmoplantar pustulosis; PSORS14; psoriasis caused by mutation in IL36RN; familial generalised pustular psoriasis; IL36RN psoriasis; acrodermatitis continua of Hallopeau; deficiency of the interleukin-36 receptor antagonist; deficiency of IL-36Ra; familial generalized pustular psoriasis; PSORP; acrodermatitis continua suppurativa of Hallopeau; Interleukin 36 receptor antagonist deficiency; psoriasis 14, pustular; DITRA; deficiency of IL-36R antagonist
• Definition: Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.
• Disease Hierarchy:
  DISIDQ39: Epidermal disease
  DIS59VMN: Psoriasis
  DISCMCGL: Autoinflammatory syndrome
  DIS8I9FS: Hereditary disorder of connective tissue
  DISL2U2O: Psoriasis 14, pustular
• Disease Identifiers:
  MONDO ID: MONDO_0013626
  UMLS CUI: C0392439
  MedGen ID: 581114
  Orphanet ID: 163931
  SNOMED CT ID: 83839005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP1S3	OTPCMV24	Supportive	Autosomal recessive	[1]
IL36RN	OT5CO95A	Strong	Autosomal recessive	[2]

References

• [1] AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. Am J Hum Genet. 2014 May 1;94(5):790-7. doi: 10.1016/j.ajhg.2014.04.005.
• [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.