MCID: PYG003
MIFTS: 31

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Categories: Genetic diseases, Bone diseases, Skin diseases, Blood diseases, Rare diseases

Aliases & Classifications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

Name: Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 57 13
Fra 57 76 59 75
Familial Recurrent Arthritis 57 59 75
Papa Syndrome 57 59 75
Papas 57 75
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome 37
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne 75
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome 59
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 73
Familial Recurrent Arthritis; Fra 57
Papa Syndrome; Papas 57

Characteristics:

Orphanet epidemiological data:

59
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
papa syndrome is an acronym for pyogenic sterile arthritis, pyoderma gangrenosum, acne
onset of arthritis in early childhood
onset of acne in adolescence, persists into adulthood


HPO:

32
pyogenic sterile arthritis, pyoderma gangrenosum, and acne:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

UniProtKB/Swiss-Prot : 75 PAPA syndrome: Characterized by autosomal dominant inheritance of early-onset, primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile, pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction.

MalaCards based summary : Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, also known as fra, is related to popliteal pterygium syndrome, lethal type and fragile site, distamycin a type, rare, fra(16)(q22.1). An important gene associated with Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne is PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1), and among its related pathways/superpathways is NOD-like receptor signaling pathway. Affiliated tissues include skin, neutrophil and bone, and related phenotypes are arthritis and proteinuria

Description from OMIM: 604416

Related Diseases for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

# Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome, lethal type 12.0
2 fragile site, distamycin a type, rare, fra(16)(q22.1) 11.9
3 pyogenic arthritis, pyoderma gangrenosum and acne 11.2
4 fragile x syndrome 11.1
5 fraxd 11.0
6 arthritis 10.4
7 pyoderma 10.4
8 pyoderma gangrenosum 10.4

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



Diseases related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Symptoms & Phenotypes for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
irritable bowel syndrome

Skin Nails Hair Skin:
pyoderma gangrenosum
severe cystic acne
sterile abscesses at site of parenteral injection

Skeletal:
intermittent sterile, pauciarticular, peripheral erosive arthritis (elbow, knee, ankle)
synovial tissue biopsy shows polymorphonuclear infiltrate without presence of immunoglobulin or complement deposits

Hematology:
normocytic pancytopenia following sulfa use


Clinical features from OMIM:

604416

Human phenotypes related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
2 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
3 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
4 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
5 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
6 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
7 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
8 acne 59 32 hallmark (90%) Very frequent (99-80%) HP:0001061
9 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
10 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
11 myositis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100614
12 increased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0010702
13 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
14 crohn's disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0100280
15 increased inflammatory response 59 Occasional (29-5%)
16 pyoderma 32 HP:0000999
17 pyoderma gangrenosum 32 HP:0025452

Drugs & Therapeutics for Pyogenic Sterile 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 Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Genetic Tests for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Anatomical Context for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

41
Skin, Neutrophil, Bone

Publications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Articles related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

(show all 21)
# Title Authors Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. ( 28940926 )
2017
2
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. ( 25845478 )
2015
3
A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. ( 24960411 )
2014
4
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. ( 23293022 )
2013
5
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. ( 23610050 )
2013
6
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. ( 23278251 )
2013
7
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
8
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. ( 22876587 )
2012
9
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. ( 22197488 )
2012
10
Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome. ( 21745697 )
2012
11
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). ( 22161697 )
2012
12
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene. ( 19700023 )
2009
13
Peculiarities of PAPA syndrome. ( 16527883 )
2006
14
Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. ( 15916580 )
2005
15
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. ( 12575021 )
2003
16
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. ( 14595024 )
2003
17
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels. ( 17041385 )
2002
18
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. ( 11971877 )
2002
19
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. ( 11343344 )
2001
20
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. ( 9212761 )
1997
21
The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant. ( 6720749 )
1984

Variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

UniProtKB/Swiss-Prot genetic disease variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

75
# Symbol AA change Variation ID SNP ID
1 PSTPIP1 p.Ala230Thr VAR_023522 rs121908130
2 PSTPIP1 p.Glu250Gln VAR_023523 rs28939089
3 PSTPIP1 p.Glu250Lys VAR_070635 rs28939089

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

Search GEO for disease gene expression data for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne.

Pathways for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Pathways related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne according to KEGG:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

GO Terms for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Sources for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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