Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome

Description

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.

Clinical Features

Top most frequent phenotypes and symptoms related to Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome

  • Fever
  • Fatigue
  • Arthralgia
  • Arthritis
  • Proteinuria
  • Lymphadenopathy
  • Limitation of joint mobility
  • Skin ulcer
  • Type I diabetes mellitus
  • Acne

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 Arthritis-pyoderma Gangrenosum-acne Syndrome Is also known as familial recurrent arthritis, papa syndrome, fra.

Researches and researchers

Doctors, researchs, and experts related to Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome extracted from public data.

Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome Experts map



Current Researchs and researchers

  • MONTPELLIER — Pr Isabelle TOUITOU

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Département Génétique Médicale, Maladies rares et médecine personnalisée, CHRU de Montpellier - Hôpital Arnaud de Villeneuve
      — Institut de Médecine Régénérative et Biothérapies, CHU de Montpellier - Hôpital Saint-Eloi
    • Research area/topic::

      International society of systemic autoinflammatory disorders


  • SANTIAGO DE COMPOSTELA — Dr Juan José GÓMEZ-REINO CARNOTA

    Coordinator of research network

    • Institution/s:
      — CHUS - Complejo Hospitalario Universitario de Santiago
    • Research area/topic::

      Humoral cellular and genetic mechanisms in arthris


Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome 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 %

You can get up to 22 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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