Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Clinical Features

Phenotypes and symptoms related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

  • Diabetes mellitus
  • Arthritis
  • Proteinuria
  • Type I diabetes mellitus
  • Acne
  • Juvenile rheumatoid arthritis
  • Pyoderma
  • Pyoderma gangrenosum
  • Sterile arthritis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne Is also known as papas, familial recurrent arthritis, papa syndrome, fra.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PSTPIP1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PSTPIP1
Specificity
100 %
Genes
100 %
PSTPIP1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

PSTPIP1
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

TNFRSF1A, LPIN2, NLRP3, ELANE, MEFV, MVK, PSTPIP1
Specificity
15 %
Genes
100 %
PSTPIP1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PSTPIP1
Specificity
100 %
Genes
100 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (sequence analysis of PSTPIP1 gene).

By CGC Genetics (Portugal).

PSTPIP1
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TNFAIP3, TNFRSF1A, LPIN2, IL36RN, NLRP3, CARD14, NLRP12, ELANE, NOD2, MEFV, MVK, PSMB8, PSTPIP1
Specificity
8 %
Genes
100 %
PAPA.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

PSTPIP1
Specificity
100 %
Genes
100 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SH3BP2, TNFRSF1A, LPIN2, IL36RN, NLRP3, NCSTN, NLRP12, NLRP7, PSENEN, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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