PAPAS
MCID: PYG003
MIFTS: 43

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPAS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases, Skin 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
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 12 53 29 6 40 72
Papa Syndrome 57 12 53 59 74
Fra 57 75 53 59 74
Familial Recurrent Arthritis 57 53 59 74
Papas 57 53 74
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome 37
Pyogenic Arthritis, Pyoderma Gangrenosum, and Severe Cystic Acne 53
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne 74
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome 59
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:



External Ids:

Disease Ontology 12 DOID:0080519
OMIM 57 604416
KEGG 37 H00287
MESH via Orphanet 45 C536253
UMLS via Orphanet 73 C1858361
Orphanet 59 ORPHA69126
MedGen 42 C1858361
UMLS 72 C1858361

Summaries for Pyogenic Sterile 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: 69126DefinitionPyogenic 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 Sterile Arthritis, Pyoderma Gangrenosum, and Acne, also known as pyogenic arthritis, pyoderma gangrenosum and acne, is related to bartsocas-papas syndrome 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. The drugs Pharmaceutical Solutions and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and eye, and related phenotypes are arthritis and fever

Disease Ontology : 12 A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.

KEGG : 37
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion. Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1, a protein capable of associating with pyrin. Mutated PSTPIP1 reduces the inhibitory role of pyrin on inflammasome activation and therefore, potenciates the IL-1beta pathway. Elevated TNFalpha levels are also described.

UniProtKB/Swiss-Prot : 74 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.

More information 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:

(showing 146, show less)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 12.8
2 fragile site, distamycin a type, rare, fra(16)(q22.1) 12.4
3 polydactyly, postaxial, type a1 12.0
4 fragile x syndrome 11.8
5 fraxd 11.6
6 neurofibromatosis, type ii 10.5
7 pyoderma 10.5
8 pyoderma gangrenosum 10.5
9 chromosome 2q35 duplication syndrome 10.4
10 plague 10.4
11 chagas disease 10.3
12 autism 10.3
13 osteonecrosis 10.3
14 erysipelas 10.3
15 popliteal pterygium syndrome 10.2
16 down syndrome 10.2
17 47,xyy 10.2
18 multiple pterygium syndrome, escobar variant 10.2
19 arthritis 10.2
20 dowling-degos disease 1 10.1
21 ataxia and polyneuropathy, adult-onset 10.1
22 endometrial cancer 10.1
23 pollen allergy 10.1
24 adenocarcinoma 10.1
25 ring chromosome 10.1
26 polyploidy 10.1
27 overgrowth syndrome 10.1
28 arteries, anomalies of 10.1
29 hyperlipoproteinemia, type iii 10.1
30 coronary artery anomaly 10.1
31 chand syndrome 10.1
32 familial mediterranean fever 10.1
33 inflammatory bowel disease 10.1
34 omphalocele 10.1
35 ankylosis 10.1
36 vasculitis 10.1
37 cleft lip 10.1
38 microcephaly 10.1
39 wells syndrome 10.1
40 cleft lip/palate 10.1
41 autoinflammatory syndrome 10.1
42 blood group, colton system 9.9
43 colorectal cancer 9.9
44 sotos syndrome 1 9.9
45 cleft palate, isolated 9.9
46 factor viii deficiency 9.9
47 fragile site 10q25 9.9
48 hair whorl 9.9
49 lipomatosis, multiple 9.9
50 nondisjunction 9.9
51 neutropenia, chronic familial 9.9
52 ovarian cancer 9.9
53 ablepharon-macrostomia syndrome 9.9
54 lung cancer 9.9
55 fraser syndrome 1 9.9
56 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
57 choroideremia, deafness, and mental retardation 9.9
58 deafness, x-linked 2 9.9
59 hemophilia a 9.9
60 rett syndrome 9.9
61 fragile site 11b 9.9
62 branchiootic syndrome 1 9.9
63 aceruloplasminemia 9.9
64 anxiety 9.9
65 kala-azar 1 9.9
66 spondylocostal dysostosis 3, autosomal recessive 9.9
67 ewing sarcoma 9.9
68 macrostomia, isolated 9.9
69 membranous nephropathy 9.9
70 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
71 lymphatic malformation 7 9.9
72 autism spectrum disorder 9.9
73 hypogonadotropic hypogonadism 9.9
74 pleomorphic lipoma 9.9
75 rabies 9.9
76 visual epilepsy 9.9
77 neutropenia 9.9
78 dyscalculia 9.9
79 typhoid fever 9.9
80 alcohol use disorder 9.9
81 dysostosis 9.9
82 acromegaly 9.9
83 liposarcoma 9.9
84 turner syndrome 9.9
85 ganglioglioma 9.9
86 ovarian cyst 9.9
87 learning disability 9.9
88 leishmaniasis 9.9
89 hydrocele 9.9
90 hemophilia 9.9
91 gigantism 9.9
92 granulocytopenia 9.9
93 foot drop 9.9
94 hypotonia 9.9
95 seizure disorder 9.9
96 hepatocellular carcinoma 9.9
97 body mass index quantitative trait locus 1 9.9
98 oral squamous cell carcinoma 9.9
99 sexual disorder 9.9
100 pyelonephritis 9.9
101 acute cystitis 9.9
102 squamous cell carcinoma 9.9
103 hepatitis c 9.9
104 infertility 9.9
105 haemophilus influenzae 9.9
106 brain injury 9.9
107 headache 9.9
108 traumatic brain injury 9.9
109 ankyloblepharon-ectodermal defects-cleft lip/palate 9.9
110 autoimmune disease 9.9
111 monilethrix 9.9
112 sarcoidosis 1 9.9
113 blau syndrome 9.9
114 tracheoesophageal fistula with or without esophageal atresia 9.9
115 triiodothyronine receptor auxiliary protein 9.9
116 renal hypodysplasia/aplasia 1 9.9
117 muckle-wells syndrome 9.9
118 acrorenal-mandibular syndrome 9.9
119 proteasome-associated autoinflammatory syndrome 1 9.9
120 cinca syndrome 9.9
121 cholangitis, primary sclerosing 9.9
122 nail disorder, nonsyndromic congenital, 9 9.9
123 autosomal recessive disease 9.9
124 synpolydactyly 9.9
125 renal hypoplasia 9.9
126 esophageal atresia 9.9
127 microphthalmia 9.9
128 anhidrosis 9.9
129 oligohydramnios 9.9
130 sclerosing cholangitis 9.9
131 autoimmune hepatitis 9.9
132 hidradenitis 9.9
133 agammaglobulinemia 9.9
134 skin disease 9.9
135 septic arthritis 9.9
136 ulcerative colitis 9.9
137 crohn's disease 9.9
138 cholangitis 9.9
139 alopecia 9.9
140 irf6-related disorders 9.9
141 alopecia totalis 9.9
142 talipes equinovarus 9.9
143 orofacial clefting syndrome 9.9
144 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 9.9
145 peripheral pulmonary stenosis 9.9
146 juvenile rheumatoid arthritis 9.7

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

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

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

Symptoms via clinical synopsis from OMIM:

57
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

Abdomen Gastrointestinal:
irritable bowel syndrome

Hematology:
normocytic pancytopenia following sulfa use

Clinical features from OMIM:

604416

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

Drugs for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 9, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Ophthalmic Solutions Phase 4
3 Lubricant Eye Drops Phase 4
4
Tolnaftate Approved, Investigational, Vet_approved 2398-96-1 5510
5
Isotretinoin Approved 4759-48-2 5282379 5538
6 Micronutrients
7 Nutrients
8 Trace Elements
9 Dermatologic Agents

Interventional clinical trials:

(showing 5, show less)
# Name Status NCT ID Phase Drugs
1 Direct Application of Systane Complete to Contact Lenses for the Treatment of Contact Lens Discomfort Recruiting NCT03848221 Phase 4 Systane Complete;Sensitive Eyes Rewetting Drops
2 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
3 Nutritional Impact of a Project on Food Security and Nutrition in Children of 6 Months to 5 Years of Age Receiving Home Fortification With Micronutrient Powders in Nariño, Colombia Completed NCT03313089
4 Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment Completed NCT01727440
5 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373

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

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

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

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

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, Eye, Bone, T Cells

Publications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

(showing 70, show less)
# Title Authors PMID Year
1
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. 38 8 71
11971877 2002
2
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. 38 8
10729114 2000
3
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. 38 8
9212761 1997
4
Localization of a gene for familial recurrent arthritis. 8
11014354 2000
5
"Streaking leukocyte factor," arthritis, and pyoderma gangrenosum. 8
1165961 1975
6
Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature. 38
30225645 2019
7
Pyogenic arthritis pyoderma gangrenosum and acne syndrome: A rare but important diagnosis for antibiotic-resistant erysipelas-like erythema and osteonecrosis. 38
29943877 2018
8
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome. 38
30131320 2018
9
Vasculitis in Systemic Autoinflammatory Diseases. 38
30560109 2018
10
A dermatologic perspective on autoinflammatory diseases. 38
29742056 2018
11
Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. 38
28628471 2017
12
A clinical update on inflammasomopathies. 38
28387826 2017
13
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts. 38
28251506 2017
14
Pediatric pyoderma gangrenosum: a systematic review and update. 38
28233293 2017
15
High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome. 38
27505688 2017
16
Pediatric Pyoderma Gangrenosum: A Retrospective Review of Clinical Features, Etiologic Associations, and Treatment. 38
27699861 2017
17
Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 38
27106250 2016
18
Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. 38
27464597 2016
19
Identification of novel mutations in CD2BP1 gene in clinically proven rheumatoid arthritis patients of south India. 38
27184502 2016
20
Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm. 38
26122324 2016
21
Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome. 38
26989109 2016
22
The Relationship between NALP3 and Autoinflammatory Syndromes. 38
27187378 2016
23
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. 38
26025129 2015
24
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. 38
25845478 2015
25
Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene. 38
25683018 2015
26
Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm. 38
26109622 2015
27
The genetics of pyoderma gangrenosum and implications for treatment: a systematic review. 38
25350484 2015
28
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome]. 38
26524899 2015
29
A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. 38
24960411 2014
30
Proline-serine-threonine phosphatase interacting protein 1 inhibition of T-cell receptor signaling depends on its SH3 domain. 38
25040622 2014
31
Pyoderma gangrenosum: pathogenetic oriented treatment approaches. 38
24898196 2014
32
The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages. 38
24421327 2014
33
Fever of undetermined origin in a patient with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). 38
24603749 2014
34
A sporadic case of pyogenic arthritis, pyoderma gangrenosum and acne syndrome without an identifiable mutation. 38
23692517 2014
35
Autoinflammatory pustular neutrophilic diseases. 38
23827244 2013
36
Autoinflammatory diseases in pediatrics. 38
23827250 2013
37
Monogenic autoinflammatory diseases: concept and clinical manifestations. 38
23711932 2013
38
Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis. 38
24011308 2013
39
Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment. 38
23426477 2013
40
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. 38
23293022 2013
41
Pyoderma gangrenosum, acne conglobata, suppurative hidradenitis, and axial spondyloarthritis: efficacy of anti-tumor necrosis factor α therapy. 38
23188209 2012
42
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). 38
22161697 2012
43
Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways. 38
22336993 2012
44
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. 38
22513199 2012
45
Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review. 38
21532836 2010
46
Pediatric hereditary autoinflammatory syndromes. 38
20938587 2010
47
Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. 38
19673875 2009
48
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene. 38
19700023 2009
49
Pyrin Modulates the Intracellular Distribution of PSTPIP1. 38
19584923 2009
50
[Autoinflammatory syndromes]. 38
19434382 2009
51
PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders. 38
19290936 2009
52
Neutrophilic dermatoses in children. 38
18950391 2008
53
Diagnosis and management of autoinflammatory diseases in childhood. 38
18368292 2008
54
[Hereditary systemic autoinflammatory diseases. Part II: cryopyrin-associated periodic syndromes, pediatric systemic granulomatosis and PAPA syndrome]. 38
18394369 2008
55
Autoinflammatory diseases: clinical and genetic advances. 38
18347298 2008
56
Autoinflammatory syndromes with a dermatological perspective. 38
17727363 2007
57
Autoinflammatory gene mutations in Behçet's disease. 38
17213252 2007
58
[Pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPA syndrome)]. 38
17447041 2007
59
Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. 38
16931648 2007
60
Peculiarities of PAPA syndrome. 38
16527883 2006
61
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. 38
16122996 2006
62
Autoinflammatory syndromes. 38
16466630 2006
63
Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. 38
16344627 2006
64
Caspase recruitment domain 15 mutations and rheumatic diseases. 38
16093837 2005
65
Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. 38
15916580 2005
66
A common pathway in periodic fever syndromes. 38
15324736 2004
67
Infevers: an evolving mutation database for auto-inflammatory syndromes. 38
15300846 2004
68
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. 38
14595024 2003
69
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels. 38
17041385 2002
70
Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. 38
11247670 2001

Variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

6 (showing 93, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PSTPIP1 NM_003978.5(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 15:77324645-77324645 15:77032304-77032304
2 PSTPIP1 NM_003978.5(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 15:77323566-77323566 15:77031225-77031225
3 PSTPIP1 NM_003978.5(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 15:77324645-77324645 15:77032304-77032304
4 PSTPIP1 NM_003978.5(PSTPIP1): c.1207G> C (p.Gly403Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs369113632 15:77329473-77329473 15:77037132-77037132
5 PSTPIP1 NM_003978.5(PSTPIP1): c.657A> G (p.Gln219=) single nucleotide variant Conflicting interpretations of pathogenicity rs139362350 15:77323535-77323535 15:77031194-77031194
6 PSTPIP1 NM_003978.5(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 15:77329479-77329479 15:77037138-77037138
7 PSTPIP1 NM_003978.5(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 15:77329417-77329417 15:77037076-77037076
8 PSTPIP1 NM_003978.5(PSTPIP1): c.59C> T (p.Thr20Met) single nucleotide variant Conflicting interpretations of pathogenicity rs553718554 15:77310511-77310511 15:77018170-77018170
9 PSTPIP1 NM_003978.5(PSTPIP1): c.856A> G (p.Asn286Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs377437961 15:77325220-77325220 15:77032879-77032879
10 PSTPIP1 NM_003978.5(PSTPIP1): c.555C> T (p.Thr185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370782742 15:77321908-77321908 15:77029567-77029567
11 PSTPIP1 NM_003978.5(PSTPIP1): c.629G> A (p.Arg210Gln) single nucleotide variant Uncertain significance rs776576205 15:77322909-77322909 15:77030568-77030568
12 PSTPIP1 NM_003978.5(PSTPIP1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs758911910 15:77322866-77322866 15:77030525-77030525
13 PSTPIP1 NM_003978.5(PSTPIP1): c.*123T> C single nucleotide variant Uncertain significance rs886051494 15:77329640-77329640 15:77037299-77037299
14 PSTPIP1 NM_003978.5(PSTPIP1): c.-280_-276GCTGG[3] short repeat Uncertain significance rs886051491 15:77287640-77287644 15:76995299-76995303
15 PSTPIP1 NM_003978.4(PSTPIP1): c.418-4_418-3del deletion Uncertain significance rs749862420 15:77320891-77320892 15:77028550-77028551
16 PSTPIP1 NM_003978.5(PSTPIP1): c.1079C> T (p.Pro360Leu) single nucleotide variant Uncertain significance rs768897476 15:77328236-77328236 15:77035895-77035895
17 PSTPIP1 NM_003978.5(PSTPIP1): c.-367G> A single nucleotide variant Uncertain significance rs886051490 15:77287548-77287548 15:76995207-76995207
18 PSTPIP1 NM_003978.5(PSTPIP1): c.-124C> T single nucleotide variant Uncertain significance rs760819203 15:77287791-77287791 15:76995450-76995450
19 PSTPIP1 NM_003978.5(PSTPIP1): c.326G> A (p.Arg109His) single nucleotide variant Uncertain significance rs772315853 15:77317917-77317917 15:77025576-77025576
20 PSTPIP1 NM_003978.5(PSTPIP1): c.475G> C (p.Glu159Gln) single nucleotide variant Uncertain significance rs886051493 15:77320952-77320952 15:77028611-77028611
21 PSTPIP1 NC_000015.9: g.(?_77287895)_(77329537_?)dup duplication Uncertain significance 15:77287895-77329537 15:76995554-77037196
22 PSTPIP1 NM_003978.5(PSTPIP1): c.430T> G (p.Tyr144Asp) single nucleotide variant Uncertain significance 15:77320907-77320907 15:77028566-77028566
23 PSTPIP1 NM_003978.5(PSTPIP1): c.503A> G (p.Lys168Arg) single nucleotide variant Uncertain significance 15:77320980-77320980 15:77028639-77028639
24 PSTPIP1 NM_003978.5(PSTPIP1): c.584T> C (p.Ile195Thr) single nucleotide variant Uncertain significance 15:77322864-77322864 15:77030523-77030523
25 PSTPIP1 NM_003978.5(PSTPIP1): c.1144G> C (p.Ala382Pro) single nucleotide variant Uncertain significance 15:77329410-77329410 15:77037069-77037069
26 PSTPIP1 NM_003978.5(PSTPIP1): c.296G> T (p.Arg99Leu) single nucleotide variant Uncertain significance 15:77317887-77317887 15:77025546-77025546
27 PSTPIP1 NM_003978.5(PSTPIP1): c.548C> T (p.Ser183Leu) single nucleotide variant Uncertain significance 15:77321901-77321901 15:77029560-77029560
28 PSTPIP1 NM_003978.5(PSTPIP1): c.604C> T (p.Arg202Trp) single nucleotide variant Uncertain significance 15:77322884-77322884 15:77030543-77030543
29 PSTPIP1 NM_003978.5(PSTPIP1): c.655C> T (p.Gln219Ter) single nucleotide variant Uncertain significance 15:77323533-77323533 15:77031192-77031192
30 PSTPIP1 NM_003978.5(PSTPIP1): c.793A> G (p.Ile265Val) single nucleotide variant Uncertain significance 15:77324690-77324690 15:77032349-77032349
31 PSTPIP1 NM_003978.5(PSTPIP1): c.1027G> A (p.Gly343Ser) single nucleotide variant Uncertain significance 15:77328184-77328184 15:77035843-77035843
32 PSTPIP1 NM_003978.5(PSTPIP1): c.1068C> G (p.Asn356Lys) single nucleotide variant Uncertain significance 15:77328225-77328225 15:77035884-77035884
33 PSTPIP1 NM_003978.5(PSTPIP1): c.916G> A (p.Gly306Ser) single nucleotide variant Uncertain significance 15:77325280-77325280 15:77032939-77032939
34 PSTPIP1 NM_003978.5(PSTPIP1): c.22A> G (p.Lys8Glu) single nucleotide variant Uncertain significance 15:77287936-77287936 15:76995595-76995595
35 PSTPIP1 NM_003978.5(PSTPIP1): c.50C> T (p.Thr17Ile) single nucleotide variant Uncertain significance 15:77310502-77310502 15:77018161-77018161
36 PSTPIP1 NM_003978.5(PSTPIP1): c.432C> G (p.Tyr144Ter) single nucleotide variant Uncertain significance 15:77320909-77320909 15:77028568-77028568
37 PSTPIP1 NM_003978.5(PSTPIP1): c.445del (p.Arg149fs) deletion Uncertain significance 15:77320922-77320922 15:77028581-77028581
38 PSTPIP1 NM_003978.5(PSTPIP1): c.587C> T (p.Ala196Val) single nucleotide variant Uncertain significance 15:77322867-77322867 15:77030526-77030526
39 PSTPIP1 NM_003978.5(PSTPIP1): c.668G> A (p.Arg223Gln) single nucleotide variant Uncertain significance 15:77323546-77323546 15:77031205-77031205
40 PSTPIP1 NM_003978.5(PSTPIP1): c.968C> T (p.Ser323Leu) single nucleotide variant Uncertain significance 15:77327887-77327887 15:77035546-77035546
41 PSTPIP1 NM_003978.5(PSTPIP1): c.986C> T (p.Ala329Val) single nucleotide variant Uncertain significance 15:77328143-77328143 15:77035802-77035802
42 PSTPIP1 NM_003978.5(PSTPIP1): c.1015G> A (p.Glu339Lys) single nucleotide variant Uncertain significance 15:77328172-77328172 15:77035831-77035831
43 PSTPIP1 NM_003978.5(PSTPIP1): c.1207G> A (p.Gly403Arg) single nucleotide variant Uncertain significance 15:77329473-77329473 15:77037132-77037132
44 PSTPIP1 NM_003978.5(PSTPIP1): c.1119+5G> A single nucleotide variant Uncertain significance 15:77328281-77328281 15:77035940-77035940
45 PSTPIP1 NM_003978.5(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 15:77320202-77320202 15:77027861-77027861
46 PSTPIP1 NM_003978.5(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 15:77329474-77329474 15:77037133-77037133
47 PSTPIP1 NM_003978.5(PSTPIP1): c.454G> C (p.Asp152His) single nucleotide variant Uncertain significance rs375932577 15:77320931-77320931 15:77028590-77028590
48 PSTPIP1 NM_003978.5(PSTPIP1): c.797A> G (p.Asp266Gly) single nucleotide variant Uncertain significance rs1333618864 15:77324694-77324694 15:77032353-77032353
49 PSTPIP1 NM_003978.5(PSTPIP1): c.1222dup (p.Val408fs) duplication Uncertain significance rs1392091785 15:77329488-77329488 15:77037147-77037147
50 PSTPIP1 NM_003978.5(PSTPIP1): c.1120-9C> G single nucleotide variant Uncertain significance rs747139033 15:77329377-77329377 15:77037036-77037036
51 PSTPIP1 NM_003978.5(PSTPIP1): c.212+5G> A single nucleotide variant Uncertain significance rs1280331114 15:77310877-77310877 15:77018536-77018536
52 PSTPIP1 NM_003978.5(PSTPIP1): c.838+9C> T single nucleotide variant Likely benign rs778120164 15:77324744-77324744 15:77032403-77032403
53 PSTPIP1 NM_003978.5(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 15:77325246-77325246 15:77032905-77032905
54 PSTPIP1 NM_003978.5(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 15:77329487-77329487 15:77037146-77037146
55 PSTPIP1 NM_003978.5(PSTPIP1): c.795C> T (p.Ile265=) single nucleotide variant Likely benign rs368528834 15:77324692-77324692 15:77032351-77032351
56 PSTPIP1 NM_003978.5(PSTPIP1): c.1054G> A (p.Glu352Lys) single nucleotide variant Likely benign rs201186216 15:77328211-77328211 15:77035870-77035870
57 PSTPIP1 NM_003978.5(PSTPIP1): c.*93C> T single nucleotide variant Likely benign rs554408944 15:77329610-77329610 15:77037269-77037269
58 PSTPIP1 NM_003978.5(PSTPIP1): c.*122G> A single nucleotide variant Likely benign rs527679453 15:77329639-77329639 15:77037298-77037298
59 PSTPIP1 NM_003978.5(PSTPIP1): c.-117C> T single nucleotide variant Likely benign rs147120980 15:77287798-77287798 15:76995457-76995457
60 PSTPIP1 NM_003978.5(PSTPIP1): c.-171A> T single nucleotide variant Likely benign rs546291000 15:77287744-77287744 15:76995403-76995403
61 PSTPIP1 NM_003978.5(PSTPIP1): c.203C> T (p.Thr68Met) single nucleotide variant Likely benign rs201872851 15:77310863-77310863 15:77018522-77018522
62 PSTPIP1 NM_003978.5(PSTPIP1): c.-436G> A single nucleotide variant Likely benign rs548828496 15:77287479-77287479 15:76995138-76995138
63 PSTPIP1 NM_003978.5(PSTPIP1): c.1145C> T (p.Ala382Val) single nucleotide variant Likely benign rs202205180 15:77329411-77329411 15:77037070-77037070
64 PSTPIP1 NM_003978.5(PSTPIP1): c.1248T> C (p.Leu416=) single nucleotide variant Likely benign rs556322755 15:77329514-77329514 15:77037173-77037173
65 PSTPIP1 NM_003978.5(PSTPIP1): c.*121C> T single nucleotide variant Likely benign rs566906535 15:77329638-77329638 15:77037297-77037297
66 PSTPIP1 NM_003978.5(PSTPIP1): c.*38T> C single nucleotide variant Benign/Likely benign rs201535027 15:77329555-77329555 15:77037214-77037214
67 PSTPIP1 NM_003978.5(PSTPIP1): c.940C> T (p.Leu314=) single nucleotide variant Benign/Likely benign rs201582038 15:77327859-77327859 15:77035518-77035518
68 PSTPIP1 NM_003978.5(PSTPIP1): c.543G> A (p.Lys181=) single nucleotide variant Benign/Likely benign rs375950478 15:77321896-77321896 15:77029555-77029555
69 PSTPIP1 NM_003978.5(PSTPIP1): c.1112C> T (p.Thr371Ile) single nucleotide variant Benign/Likely benign rs34908107 15:77328269-77328269 15:77035928-77035928
70 PSTPIP1 NM_003978.5(PSTPIP1): c.1143C> T (p.Ser381=) single nucleotide variant Benign/Likely benign rs141227274 15:77329409-77329409 15:77037068-77037068
71 PSTPIP1 NM_003978.5(PSTPIP1): c.1144G> A (p.Ala382Thr) single nucleotide variant Benign/Likely benign rs145344175 15:77329410-77329410 15:77037069-77037069
72 PSTPIP1 NM_003978.5(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 15:77310807-77310807 15:77018466-77018466
73 PSTPIP1 NM_003978.5(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 15:77324670-77324670 15:77032329-77032329
74 PSTPIP1 NM_003978.5(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 15:77317648-77317648 15:77025307-77025307
75 PSTPIP1 NM_003978.5(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 15:77328255-77328255 15:77035914-77035914
76 PSTPIP1 NM_003978.5(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 15:77323535-77323535 15:77031194-77031194
77 PSTPIP1 NM_003978.5(PSTPIP1): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign rs35677716 15:77323530-77323530 15:77031189-77031189
78 PSTPIP1 NM_003978.5(PSTPIP1): c.687C> T (p.Asn229=) single nucleotide variant Benign/Likely benign rs542286074 15:77323565-77323565 15:77031224-77031224
79 PSTPIP1 NM_003978.5(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 15:77317955-77317955 15:77025614-77025614
80 PSTPIP1 NM_003978.5(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 15:77324683-77324683 15:77032342-77032342
81 PSTPIP1 NM_003978.5(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 15:77324734-77324734 15:77032393-77032393
82 PSTPIP1 NM_003978.5(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 15:77325272-77325272 15:77032931-77032931
83 PSTPIP1 NM_003978.5(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 15:77329472-77329472 15:77037131-77037131
84 PSTPIP1 NM_003978.5(PSTPIP1): c.*156_*158del deletion Benign rs147238110 15:77329671-77329673 15:77037330-77037332
85 PSTPIP1 NM_003978.5(PSTPIP1): c.1134G> A (p.Leu378=) single nucleotide variant Benign rs529402949 15:77329400-77329400 15:77037059-77037059
86 PSTPIP1 NM_003978.5(PSTPIP1): c.-421_-418CCTG[6] short repeat Benign rs55909412 15:77287510-77287513 15:76995169-76995172
87 PSTPIP1 NM_003978.5(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 15:77310864-77310864 15:77018523-77018523
88 PSTPIP1 NM_003978.5(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 15:77310884-77310884 15:77018543-77018543
89 PSTPIP1 NM_003978.5(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 15:77325279-77325279 15:77032938-77032938
90 PSTPIP1 NM_003978.5(PSTPIP1): c.-421_-418CCTG[8] short repeat Benign rs55909412 15:77287502-77287513 15:76995161-76995172
91 PSTPIP1 NM_003978.5(PSTPIP1): c.*51G> A single nucleotide variant Benign rs117378779 15:77329568-77329568 15:77037227-77037227
92 PSTPIP1 NM_003978.5(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 15:77324693-77324693 15:77032352-77032352
93 PSTPIP1 NM_003978.5(PSTPIP1): c.741+32_741+33dup duplication not provided rs104895417 15:77323651-77323652 15:77031310-77031311

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

74 (showing 3, show less)
# 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

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 (showing 1, show less)
# 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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