MCID: PYG002
MIFTS: 19

Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

MalaCards integrated aliases for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne:

Name: Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 53 29 6 40 73
Pyogenic Arthritis, Pyoderma Gangrenosum, and Severe Cystic Acne 53
Familial Recurrent Arthritis 53
Papa Syndrome 53
Papas 53
Fra 53

Classifications:



External Ids:

UMLS 73 C1858361

Summaries for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 69126Disease definitionPyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.EpidemiologyTo date, only 34 patients with PAPA syndrome have been reported worldwide, from five families (two in the USA, one in Italy, one in the Netherlands, and one in New Zealand).Clinical descriptionThe first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. Synovial fluid is purulent with neutrophil accumulation, but cultures are invariably negative. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. Other less commonly associated features include adult-onset insulin-dependent diabetes mellitus, proteinuria, and abscess formation at the site of parenteral injections (pathergy).EtiologyThe gene responsible for the syndrome, the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene (previously known as the CD2 binding protein 1 (CD2BP1) gene), was cloned in 2002. Only two mutations account for the known cases. Recently, the PSTPIP1 protein has been demonstrated to bind pyrin/marenostrin (P/M), the protein encoded by the MEFV gene, mutations in which cause Familial Mediterranean Fever. PAPA-associated PSTPIP1 mutants exhibit increased binding to P/M.Differential diagnosisDifferential diagnosis for PAPA syndrome should include juvenile idiopathic arthritis and periodic fever.Genetic counselingPAPA syndrome is inherited in an autosomal dominant manner.Management and treatmentArthritis and skin lesions have sometimes been reported to be responsive to glucocorticoids. However, two alternative therapeutics have been suggested so far. In one report, the disease underwent rapid and sustained clinical remission after treatment withthe tumor necrosis factor inhibitor, etanercept. Another recent paper described the effect of recombinant human interleukin (IL)-1 receptor antagonist (anakinra), which appeared to be an effective therapy to treat disease flares in PAPA syndrome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pyogenic Arthritis, Pyoderma Gangrenosum and Acne, also known as pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne, is related to pyoderma and popliteal pterygium syndrome, lethal type. An important gene associated with Pyogenic Arthritis, Pyoderma Gangrenosum and Acne is PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1). Affiliated tissues include neutrophil and skin.

Related Diseases for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Diseases related to Pyogenic Arthritis, Pyoderma Gangrenosum and Acne via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyoderma 29.4 IL1R1 PSTPIP1
2 popliteal pterygium syndrome, lethal type 12.0
3 fragile site, distamycin a type, rare, fra(16)(q22.1) 11.9
4 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 11.9
5 polydactyly, postaxial, type a1 11.6
6 pyoderma gangrenosum 10.6
7 arthritis 10.6
8 osteonecrosis 10.1
9 erysipelas 10.1

Graphical network of the top 20 diseases related to Pyogenic Arthritis, Pyoderma Gangrenosum and Acne:



Diseases related to Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Symptoms & Phenotypes for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Drugs & Therapeutics for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296

Search NIH Clinical Center for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Genetic Tests for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Genetic tests related to Pyogenic Arthritis, Pyoderma Gangrenosum and Acne:

# Genetic test Affiliating Genes
1 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 29 PSTPIP1

Anatomical Context for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

MalaCards organs/tissues related to Pyogenic Arthritis, Pyoderma Gangrenosum and Acne:

41
Neutrophil, Skin

Publications for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

Articles related to Pyogenic Arthritis, Pyoderma Gangrenosum and Acne:

# Title Authors Year
1
Pyogenic arthritis pyoderma gangrenosum and acne syndrome: A rare but important diagnosis for antibiotic-resistant erysipelas-like erythema and osteonecrosis. ( 29943877 )
2018
2
High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome. ( 27505688 )
2016
3
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. ( 25845478 )
2015
4
A sporadic case of pyogenic arthritis, pyoderma gangrenosum and acne syndrome without an identifiable mutation. ( 23692517 )
2014
5
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. ( 23293022 )
2013
6
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. ( 22513199 )
2012
7
Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. ( 19673875 )
2009
8
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene. ( 19700023 )
2009
9
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels. ( 17041385 )
2002

Variations for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

ClinVar genetic disease variations for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne:

6
(show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
2 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
3 PSTPIP1 NM_003978.4(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 GRCh37 Chromosome 15, 77323566: 77323566
4 PSTPIP1 NM_003978.4(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 GRCh38 Chromosome 15, 77031225: 77031225
5 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
6 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
7 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh38 Chromosome 15, 77025307: 77025307
8 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh37 Chromosome 15, 77317648: 77317648
9 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh38 Chromosome 15, 77037133: 77037133
10 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh37 Chromosome 15, 77329474: 77329474
11 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh38 Chromosome 15, 77037138: 77037138
12 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh37 Chromosome 15, 77329479: 77329479
13 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh37 Chromosome 15, 77329417: 77329417
14 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh38 Chromosome 15, 77037076: 77037076
15 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh37 Chromosome 15, 77323535: 77323535
16 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh38 Chromosome 15, 77031194: 77031194
17 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh38 Chromosome 15, 77032905: 77032905
18 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh37 Chromosome 15, 77325246: 77325246
19 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh37 Chromosome 15, 77329487: 77329487
20 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh38 Chromosome 15, 77037146: 77037146
21 PSTPIP1 NM_003978.4(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 GRCh37 Chromosome 15, 77310807: 77310807
22 PSTPIP1 NM_003978.4(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 GRCh38 Chromosome 15, 77018466: 77018466
23 PSTPIP1 NM_003978.4(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 GRCh37 Chromosome 15, 77324670: 77324670
24 PSTPIP1 NM_003978.4(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 GRCh38 Chromosome 15, 77032329: 77032329
25 PSTPIP1 NM_003978.4(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 GRCh38 Chromosome 15, 77032938: 77032938
26 PSTPIP1 NM_003978.4(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 GRCh37 Chromosome 15, 77325279: 77325279
27 PSTPIP1 NM_003978.4(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 GRCh38 Chromosome 15, 77035914: 77035914
28 PSTPIP1 NM_003978.4(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 GRCh37 Chromosome 15, 77328255: 77328255
29 PSTPIP1 NM_003978.4(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 GRCh37 Chromosome 15, 77320202: 77320202
30 PSTPIP1 NM_003978.4(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 GRCh38 Chromosome 15, 77027861: 77027861
31 PSTPIP1 NM_003978.4(PSTPIP1): c.-405_-402dupCCTG duplication Benign rs55909412 GRCh38 Chromosome 15, 76995169: 76995172
32 PSTPIP1 NM_003978.4(PSTPIP1): c.-405_-402dupCCTG duplication Benign rs55909412 GRCh37 Chromosome 15, 77287510: 77287513
33 PSTPIP1 NM_003978.4(PSTPIP1): c.-275_-271dupGCTGG duplication Uncertain significance rs886051491 GRCh38 Chromosome 15, 76995299: 76995303
34 PSTPIP1 NM_003978.4(PSTPIP1): c.-275_-271dupGCTGG duplication Uncertain significance rs886051491 GRCh37 Chromosome 15, 77287640: 77287644
35 PSTPIP1 NM_003978.4(PSTPIP1): c.59C> T (p.Thr20Met) single nucleotide variant Likely benign rs553718554 GRCh38 Chromosome 15, 77018170: 77018170
36 PSTPIP1 NM_003978.4(PSTPIP1): c.59C> T (p.Thr20Met) single nucleotide variant Likely benign rs553718554 GRCh37 Chromosome 15, 77310511: 77310511
37 PSTPIP1 NM_003978.4(PSTPIP1): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign rs35677716 GRCh37 Chromosome 15, 77323530: 77323530
38 PSTPIP1 NM_003978.4(PSTPIP1): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign rs35677716 GRCh38 Chromosome 15, 77031189: 77031189
39 PSTPIP1 NM_003978.4(PSTPIP1): c.856A> G (p.Asn286Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs377437961 GRCh38 Chromosome 15, 77032879: 77032879
40 PSTPIP1 NM_003978.4(PSTPIP1): c.856A> G (p.Asn286Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs377437961 GRCh37 Chromosome 15, 77325220: 77325220
41 PSTPIP1 NM_003978.4(PSTPIP1): c.-413_-402dupCCTGCCTGCCTG duplication Benign rs55909412 GRCh38 Chromosome 15, 76995161: 76995172
42 PSTPIP1 NM_003978.4(PSTPIP1): c.-413_-402dupCCTGCCTGCCTG duplication Benign rs55909412 GRCh37 Chromosome 15, 77287502: 77287513
43 PSTPIP1 NM_003978.4(PSTPIP1): c.-171A> T single nucleotide variant Likely benign rs546291000 GRCh38 Chromosome 15, 76995403: 76995403
44 PSTPIP1 NM_003978.4(PSTPIP1): c.-171A> T single nucleotide variant Likely benign rs546291000 GRCh37 Chromosome 15, 77287744: 77287744
45 PSTPIP1 NM_003978.4(PSTPIP1): c.203C> T (p.Thr68Met) single nucleotide variant Likely benign rs201872851 GRCh38 Chromosome 15, 77018522: 77018522
46 PSTPIP1 NM_003978.4(PSTPIP1): c.203C> T (p.Thr68Met) single nucleotide variant Likely benign rs201872851 GRCh37 Chromosome 15, 77310863: 77310863
47 PSTPIP1 NM_003978.4(PSTPIP1): c.543G> A (p.Lys181=) single nucleotide variant Benign/Likely benign rs375950478 GRCh37 Chromosome 15, 77321896: 77321896
48 PSTPIP1 NM_003978.4(PSTPIP1): c.543G> A (p.Lys181=) single nucleotide variant Benign/Likely benign rs375950478 GRCh38 Chromosome 15, 77029555: 77029555
49 PSTPIP1 NM_003978.4(PSTPIP1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs758911910 GRCh37 Chromosome 15, 77322866: 77322866
50 PSTPIP1 NM_003978.4(PSTPIP1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs758911910 GRCh38 Chromosome 15, 77030525: 77030525

Expression for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

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Pathways for Pyogenic Arthritis, Pyoderma Gangrenosum and Acne

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