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.
Genes related to Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome
- PSTPIP1
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.
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
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Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratoryMONTPELLIER — Pr Isabelle TOUITOU
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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
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Institution/s:
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Coordinator of research networkSANTIAGO DE COMPOSTELA — Dr Juan José GÓMEZ-REINO CARNOTA
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Institution/s:
— CHUS - Complejo Hospitalario Universitario de Santiago -
Research area/topic::
Humoral cellular and genetic mechanisms in arthris
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Institution/s:
Pyogenic Arthritis-pyoderma Gangrenosum-acne Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
PSTPIP1
Specificity
100 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
TNFRSF1A, LPIN2, NLRP3, ELANE, MEFV, MVK, PSTPIP1
Specificity
15 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
PSTPIP1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
PSTPIP1
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
TNFAIP3, TNFRSF1A, LPIN2, IL36RN, NLRP3, CARD14, NLRP12, ELANE, NOD2, MEFV, MVK, PSMB8, PSTPIP1
Specificity
8 %
Genes
100 % |
![]() By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).
PSTPIP1
Specificity
100 %
Genes
100 % |
![]() 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
Learn moreSources and references
You can check the following sources for additional information.
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