Familial hidradenitis suppurativaGene: PSTPIP1
Amber as definite HS-like features have been reported although the clinical total features are different (auto-inflammatory syndrome for PSTPIP1).
Created: 20 Jun 2017, 8:21 a.m.
Comment on list classification: Updated rating from Red to Amber following review from expert and disease-nominator, Professor John McGrath. Hidradenitis suppurativa phenotypes included in PASH and PAPASH syndromes, which are caused by PSTPIP1 mutations.
Created: 20 Jun 2017, 9:31 a.m.
Variants in the PSTPIP1 gene are associated with PAPA syndrome (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM:604416), PASH syndrome (pyoderma gangrenosum, acne, and Hidradenitis suppurativa), and PAPASH disorder (Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa); PASH and PAPASH at least include the HS phenotype.
Created: 19 Jun 2017, 10:31 a.m.
PASH syndrome (pyoderma gangrenosum, acne, and Hidradenitis suppurativa) is associated with an increased number of CCTG promoter repeats in the PSTPIP1 5'UTR region (PMID:25501066). Added the 'promoter' tag to highlight this information.
Created: 19 Jun 2017, 10:28 a.m.
PMID:23571383 describe the PAPASH disorder (Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa) in a 16-year-old female patient of Moldavian descent: genetic studies revealed a c.831G>T mutation in PSTPIP1 leading to the E277D missense mutation.
Created: 19 Jun 2017, 10:26 a.m.
6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.
This gene has been classified as Amber List (Moderate Evidence).
PSTPIP1 was created by rfoulger
PSTPIP1 was added to Familial hidradenitis suppurativapanel. Sources: Literature