Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome

PSTPIP1

View recommended genes panels

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.

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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 %