PAPAS
MCID: PYG003
MIFTS: 57

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
Papa Syndrome 57 12 20 58 72 15
Fra 57 73 20 58 72
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 12 20 39 70
Familial Recurrent Arthritis 57 20 58 72
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome 58 29 6
Papas 57 20 72
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome 36
Pyogenic Arthritis, Pyoderma Gangrenosum, and Severe Cystic Acne 20
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne 72
Familial Recurrent Arthritis; Fra 57
Papa Syndrome; Papas 57

Characteristics:

Orphanet epidemiological data:

58
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
pyogenic sterile arthritis, pyoderma gangrenosum, and acne:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 69126 Definition Pyogenic arthritis -pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Epidemiology To 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 description The 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). Etiology The 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 diagnosis Differential diagnosis for PAPA syndrome should include juvenile idiopathic arthritis and periodic fever. Genetic counseling PAPA syndrome is inherited in an autosomal dominant manner. Management and treatment Arthritis 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.

MalaCards based summary : Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, also known as papa syndrome, is related to acne and erysipelas. 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 are NOD-like receptor signaling pathway and Toll-Like receptor Signaling Pathways. The drugs Trace Elements and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, breast and bone, and related phenotypes are arthritis and fatigue

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 : 36 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 : 72 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:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 acne 31.1 PSTPIP1 IL1RN IL1B
2 erysipelas 30.6 MVK MEFV IL1B
3 pyoderma 30.6 SIGLEC5 PSTPIP1 NLRP3 MEFV IL1B
4 pyoderma gangrenosum 30.4 SIGLEC5 PSTPIP2 PSTPIP1 NLRP3 MVK MEFV
5 arthritis 30.3 PSTPIP1 NLRP3 MEFV IL1RN IL1B
6 autoinflammatory syndrome 30.2 NLRP3 NLRP12
7 chronic recurrent multifocal osteomyelitis 30.2 PSTPIP2 PSTPIP1 NLRP3 MEFV LPIN2 IL1RN
8 wells syndrome 30.0 NLRP3 MEFV IL1B
9 hidradenitis 29.9 NLRP3 MEFV IL1B
10 osteomyelitis 29.6 NLRP3 MEFV LPIN2 IL1RN IL1B CASP1
11 proteasome-associated autoinflammatory syndrome 1 29.5 NLRP3 MVK MEFV IL1RN IL1B
12 crohn's disease 29.3 NLRP3 MEFV IL1B CASP1
13 typhoid fever 29.1 SIGLEC5 IL1B CASP1
14 blau syndrome 29.1 PSTPIP1 NLRP3 NLRP12 MVK MEFV IL1B
15 familial mediterranean fever 28.9 PSTPIP1 NLRP3 MVK MEFV IL1RN IL1B
16 cinca syndrome 28.2 PSTPIP1 NLRP3 NLRP12 MVK MEFV IL1RN
17 muckle-wells syndrome 28.2 PSTPIP1 NLRP3 NLRP12 MVK MEFV IL1RN
18 bartsocas-papas syndrome 11.7
19 polydactyly, postaxial, type a1 11.6
20 fragile x syndrome 11.2
21 fragile site, distamycin a type, rare, fra(16)(q22.1) 11.0
22 fraxd 11.0
23 chromosome 2q35 duplication syndrome 10.3
24 osteonecrosis 10.3
25 hereditary periodic fever syndrome 10.3 NLRP3 MEFV
26 juvenile ankylosing spondylitis 10.3 MEFV IL1RN
27 cryopyrin-associated periodic syndrome 10.2 NLRP3 IL1RN
28 geographic tongue 10.2 LPIN2 IL1RL2
29 hyper-igd syndrome 10.2 MVK IL1RN
30 indolent plasma cell myeloma 10.2 MEFV IL1B
31 psoriatic juvenile idiopathic arthritis 10.2 PSTPIP1 NLRP3 MEFV
32 popliteal pterygium syndrome 10.2
33 cleft lip 10.2
34 cleft lip/palate 10.2
35 impetigo herpetiformis 10.2 IL1RL2 CARD14
36 plague 10.2
37 pulmonary fibrosis 10.2
38 palindromic rheumatism 10.1 MEFV IL1B
39 relapsing fever 10.1 MVK MEFV
40 peroxisomal disease 10.1 NLRP3 MVK MEFV
41 meningococcemia 10.1 IL1RN IL1B
42 chagas disease 10.1
43 aortitis 10.1 IL1RN IL1B
44 stomatitis 10.1 NLRP3 MEFV IL1B
45 psoriasis 14, pustular 10.1 PSTPIP1 IL1RL2 CARD14
46 colorectal cancer 10.1
47 scleroderma, familial progressive 10.1
48 benign mesothelioma 10.1
49 hidradenitis suppurativa 10.1 NLRP3 MEFV IL1B
50 sapho syndrome 10.1 SIGLEC5 PSTPIP2 LPIN2

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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 acne 58 31 hallmark (90%) Very frequent (99-80%) HP:0001061
5 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
6 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
7 pustule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200039
8 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
9 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
10 increased circulating antibody level 31 frequent (33%) HP:0010702
11 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
12 type i diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100651
13 myositis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100614
14 crohn's disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0100280
15 microcytic anemia 31 very rare (1%) HP:0001935
16 elbow flexion contracture 31 very rare (1%) HP:0002987
17 cellulitis 31 very rare (1%) HP:0100658
18 knee flexion contracture 31 very rare (1%) HP:0006380
19 elevated c-reactive protein level 31 very rare (1%) HP:0011227
20 hepatosplenomegaly 31 very rare (1%) HP:0001433
21 colitis 31 very rare (1%) HP:0002583
22 thrombocytosis 31 very rare (1%) HP:0001894
23 allergy 31 very rare (1%) HP:0012393
24 pyoderma gangrenosum 31 very rare (1%) HP:0025452
25 cystic acne 31 very rare (1%) HP:0033188
26 sterile arthritis 31 very rare (1%) HP:0040310
27 increased antibody level in blood 58 Frequent (79-30%)
28 pancytopenia 31 HP:0001876
29 increased inflammatory response 58 Occasional (29-5%)
30 sterile abscess 31 HP:0025616

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 CARD14 CASP1 FCHO2 IL1B IL1RL2 IL1RN
2 homeostasis/metabolism MP:0005376 10 CASP1 FCHO2 IL1B IL1RL2 IL1RN LPIN2
3 immune system MP:0005387 9.97 CARD14 CASP1 IL1B IL1RL2 IL1RN LPIN2
4 integument MP:0010771 9.56 CARD14 CASP1 IL1B IL1RL2 IL1RN MEFV
5 mortality/aging MP:0010768 9.36 CARD14 CASP1 FCHO2 IL1B IL1RN LPIN2

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Trace Elements
2 Micronutrients
3 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Paraplegia Prevention in Aortic Aneurysm Repair by Thoracoabdominal Staging With 'Minimally-Invasive Segmental Artery Coil-Embolization': A Randomized Controlled Multicentre Trial - PAPA-ARTiS Recruiting NCT03434314
3 EMMI - Emättimen Mikrobiomi - Emättimen ja Suun Limakalvojen Vuorovaikutus Recruiting NCT02898818
4 Adolescent Coordinated Transition (ACT) to Improve Health Outcomes Among Nigerian HIV+ Youth Recruiting NCT03152006

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-Acne Syndrome 29 PSTPIP1

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

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

40
Neutrophil, Breast, Bone, Lung, Thyroid, Tongue, Skin

Publications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

(show top 50) (show all 95)
# Title Authors PMID Year
1
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. 61 6 57
11971877 2002
2
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. 61 6
26025129 2015
3
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. 6 61
25845478 2015
4
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). 61 6
22161697 2012
5
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. 6 61
22513199 2012
6
Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome. 6 61
20506269 2010
7
Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. 6 61
19673875 2009
8
Peculiarities of PAPA syndrome. 6 61
16527883 2006
9
Abnormal production of tumor necrosis factor (TNF) -- alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]. 61 6
15580218 2004
10
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. 6 61
14595024 2003
11
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. 57 61
10729114 2000
12
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. 57 61
9212761 1997
13
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. 6
19934105 2010
14
Localization of a gene for familial recurrent arthritis. 57
11014354 2000
15
"Streaking leukocyte factor," arthritis, and pyoderma gangrenosum. 57
1165961 1975
16
[Targeted therapy of pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome (PAPA): a case report and literature review]. 61
33256319 2020
17
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. 61
33218716 2020
18
PAPA spectrum disorders. 61
32618443 2020
19
Autoinflammatory diseases in childhood, part 1: monogenic syndromes. 61
32065272 2020
20
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation. 61
33488606 2020
21
Successful Treatment of PAPA Syndrome with Dual Adalimumab and Tacrolimus Therapy. 61
31471736 2019
22
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report. 61
31443670 2019
23
Successful treatment of PAPA syndrome with minocycline, dapsone, deflazacort and methotrexate: a cost-effective therapy with a 2-year follow-up. 61
30259545 2019
24
[PAPA syndrome with Crohn's disease and primary sclerosing cholangitis/autoimmune hepatitis overlap syndrome]. 61
30467586 2019
25
Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature. 61
30225645 2019
26
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome. 61
30131320 2018
27
A dermatologic perspective on autoinflammatory diseases. 61
29742056 2018
28
Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. 61
28628471 2017
29
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts. 61
28251506 2017
30
Pediatric pyoderma gangrenosum: a systematic review and update. 61
28233293 2017
31
Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases. 61
28588486 2017
32
Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 61
27106250 2016
33
A pregnancy-associated nonfamilial case of PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, acne) syndrome. 61
27761253 2016
34
Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. 61
27464597 2016
35
Inflammasomes and dermatology. 61
27828627 2016
36
Identification of novel mutations in CD2BP1 gene in clinically proven rheumatoid arthritis patients of south India. 61
27184502 2016
37
Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm. 61
26122324 2016
38
Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome. 61
26989109 2016
39
The Relationship between NALP3 and Autoinflammatory Syndromes. 61
27187378 2016
40
Successful treatment of PASH syndrome with infliximab, cyclosporine and dapsone. 61
25352307 2015
41
Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene. 61
25683018 2015
42
Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm. 61
26109622 2015
43
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome]. 61
26524899 2015
44
A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. 61
24960411 2014
45
Osteolytic lesion in PAPA syndrome responding to anti-interleukin 1 treatment. 61
25362725 2014
46
[General anesthesia for a pregnant patient with PAPA syndrome]. 61
25199334 2014
47
Skin rash and arthritis a simplified appraisal of less common associations. 61
23980929 2014
48
Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II. 61
25562014 2014
49
The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages. 61
24421327 2014
50
Podosomes are disrupted in PAPA syndrome. 61
24764557 2014

Variations for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSTPIP1 NM_003978.5(PSTPIP1):c.748G>C (p.Glu250Gln) SNV Pathogenic 4434 rs28939089 GRCh37: 15:77324645-77324645
GRCh38: 15:77032304-77032304
2 PSTPIP1 NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) SNV Pathogenic 4435 rs121908130 GRCh37: 15:77323566-77323566
GRCh38: 15:77031225-77031225
3 PSTPIP1 NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) SNV Pathogenic 97810 rs28939089 GRCh37: 15:77324645-77324645
GRCh38: 15:77032304-77032304
4 PSTPIP1 NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) SNV Conflicting interpretations of pathogenicity 440207 rs369113632 GRCh37: 15:77329473-77329473
GRCh38: 15:77037132-77037132
5 PSTPIP1 NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) SNV Conflicting interpretations of pathogenicity 766706 rs760234757 GRCh37: 15:77329412-77329412
GRCh38: 15:77037071-77037071
6 PSTPIP1 NM_003978.5(PSTPIP1):c.1119+5G>C SNV Conflicting interpretations of pathogenicity 885315 GRCh37: 15:77328281-77328281
GRCh38: 15:77035940-77035940
7 PSTPIP1 NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) SNV Conflicting interpretations of pathogenicity 317183 rs201186216 GRCh37: 15:77328211-77328211
GRCh38: 15:77035870-77035870
8 PSTPIP1 NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) SNV Conflicting interpretations of pathogenicity 242307 rs201253322 GRCh37: 15:77329479-77329479
GRCh38: 15:77037138-77037138
9 PSTPIP1 NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) SNV Conflicting interpretations of pathogenicity 317170 rs553718554 GRCh37: 15:77310511-77310511
GRCh38: 15:77018170-77018170
10 PSTPIP1 NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) SNV Conflicting interpretations of pathogenicity 245930 rs200363654 GRCh37: 15:77329487-77329487
GRCh38: 15:77037146-77037146
11 PSTPIP1 NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) SNV Conflicting interpretations of pathogenicity 317177 rs758911910 GRCh37: 15:77322866-77322866
GRCh38: 15:77030525-77030525
12 PSTPIP1 NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) SNV Conflicting interpretations of pathogenicity 242306 rs201572812 GRCh37: 15:77329474-77329474
GRCh38: 15:77037133-77037133
13 PSTPIP1 NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) SNV Conflicting interpretations of pathogenicity 317178 rs776576205 GRCh37: 15:77322909-77322909
GRCh38: 15:77030568-77030568
14 PSTPIP1 NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) SNV Conflicting interpretations of pathogenicity 507898 rs139362350 GRCh37: 15:77323535-77323535
GRCh38: 15:77031194-77031194
15 PSTPIP1 NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) SNV Uncertain significance 649667 rs370965231 GRCh37: 15:77322867-77322867
GRCh38: 15:77030526-77030526
16 PSTPIP1 NM_003978.5(PSTPIP1):c.1015G>A (p.Glu339Lys) SNV Uncertain significance 649974 rs372468528 GRCh37: 15:77328172-77328172
GRCh38: 15:77035831-77035831
17 PSTPIP1 NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu) SNV Uncertain significance 650400 rs199800583 GRCh37: 15:77287936-77287936
GRCh38: 15:76995595-76995595
18 PSTPIP1 NM_003978.5(PSTPIP1):c.1119+5G>A SNV Uncertain significance 651888 rs756068066 GRCh37: 15:77328281-77328281
GRCh38: 15:77035940-77035940
19 PSTPIP1 NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter) SNV Uncertain significance 656174 rs370003508 GRCh37: 15:77320909-77320909
GRCh38: 15:77028568-77028568
20 PSTPIP1 NM_003978.5(PSTPIP1):c.445del (p.Arg149fs) Deletion Uncertain significance 656981 rs1441606629 GRCh37: 15:77320921-77320921
GRCh38: 15:77028580-77028580
21 PSTPIP1 NM_003978.5(PSTPIP1):c.968C>T (p.Ser323Leu) SNV Uncertain significance 658912 rs765187272 GRCh37: 15:77327887-77327887
GRCh38: 15:77035546-77035546
22 PSTPIP1 NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) SNV Uncertain significance 659405 rs777380464 GRCh37: 15:77323546-77323546
GRCh38: 15:77031205-77031205
23 PSTPIP1 NM_003978.5(PSTPIP1):c.1207G>A (p.Gly403Arg) SNV Uncertain significance 662799 rs369113632 GRCh37: 15:77329473-77329473
GRCh38: 15:77037132-77037132
24 PSTPIP1 NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) SNV Uncertain significance 663837 rs369498554 GRCh37: 15:77328143-77328143
GRCh38: 15:77035802-77035802
25 PSTPIP1 NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile) SNV Uncertain significance 665673 rs1235260030 GRCh37: 15:77310502-77310502
GRCh38: 15:77018161-77018161
26 PSTPIP1 NM_003978.5(PSTPIP1):c.1144G>C (p.Ala382Pro) SNV Uncertain significance 565740 rs145344175 GRCh37: 15:77329410-77329410
GRCh38: 15:77037069-77037069
27 PSTPIP1 NM_003978.5(PSTPIP1):c.296G>T (p.Arg99Leu) SNV Uncertain significance 568725 rs371065077 GRCh37: 15:77317887-77317887
GRCh38: 15:77025546-77025546
28 PSTPIP1 NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser) SNV Uncertain significance 573136 rs370404621 GRCh37: 15:77328184-77328184
GRCh38: 15:77035843-77035843
29 PSTPIP1 NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter) SNV Uncertain significance 573665 rs751668240 GRCh37: 15:77323533-77323533
GRCh38: 15:77031192-77031192
30 PSTPIP1 NM_003978.5(PSTPIP1):c.604C>T (p.Arg202Trp) SNV Uncertain significance 573686 rs781549267 GRCh37: 15:77322884-77322884
GRCh38: 15:77030543-77030543
31 PSTPIP1 NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys) SNV Uncertain significance 573827 rs781251437 GRCh37: 15:77328225-77328225
GRCh38: 15:77035884-77035884
32 PSTPIP1 NM_003978.5(PSTPIP1):c.548C>T (p.Ser183Leu) SNV Uncertain significance 578048 rs772549153 GRCh37: 15:77321901-77321901
GRCh38: 15:77029560-77029560
33 PSTPIP1 NM_003978.5(PSTPIP1):c.430T>G (p.Tyr144Asp) SNV Uncertain significance 578736 rs377240256 GRCh37: 15:77320907-77320907
GRCh38: 15:77028566-77028566
34 PSTPIP1 NM_003978.5(PSTPIP1):c.793A>G (p.Ile265Val) SNV Uncertain significance 580598 rs1266616711 GRCh37: 15:77324690-77324690
GRCh38: 15:77032349-77032349
35 PSTPIP1 NM_003978.5(PSTPIP1):c.503A>G (p.Lys168Arg) SNV Uncertain significance 581741 rs770462479 GRCh37: 15:77320980-77320980
GRCh38: 15:77028639-77028639
36 PSTPIP1 NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) SNV Uncertain significance 582444 rs771232034 GRCh37: 15:77322864-77322864
GRCh38: 15:77030523-77030523
37 PSTPIP1 NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser) SNV Uncertain significance 626001 rs374204996 GRCh37: 15:77325280-77325280
GRCh38: 15:77032939-77032939
38 PSTPIP1 NM_003978.5(PSTPIP1):c.-280_-276GCTGG[3] Microsatellite Uncertain significance 317166 rs886051491 GRCh37: 15:77287632-77287633
GRCh38: 15:76995291-76995292
39 PSTPIP1 NM_003978.5(PSTPIP1):c.212+5G>A SNV Uncertain significance 466414 rs1280331114 GRCh37: 15:77310877-77310877
GRCh38: 15:77018536-77018536
40 PSTPIP1 NM_003978.5(PSTPIP1):c.1120-9C>G SNV Uncertain significance 466413 rs747139033 GRCh37: 15:77329377-77329377
GRCh38: 15:77037036-77037036
41 PSTPIP1 NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly) SNV Uncertain significance 534749 rs1333618864 GRCh37: 15:77324694-77324694
GRCh38: 15:77032353-77032353
42 PSTPIP1 NM_003978.5(PSTPIP1):c.454G>C (p.Asp152His) SNV Uncertain significance 534750 rs375932577 GRCh37: 15:77320931-77320931
GRCh38: 15:77028590-77028590
43 PSTPIP1 NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) Duplication Uncertain significance 534751 rs1392091785 GRCh37: 15:77329487-77329488
GRCh38: 15:77037146-77037147
44 PSTPIP1 NM_003978.5(PSTPIP1):c.*122G>A SNV Uncertain significance 317194 rs527679453 GRCh37: 15:77329639-77329639
GRCh38: 15:77037298-77037298
45 PSTPIP1 NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) SNV Uncertain significance 317189 rs556322755 GRCh37: 15:77329514-77329514
GRCh38: 15:77037173-77037173
46 PSTPIP1 NM_003978.5(PSTPIP1):c.-367G>A SNV Uncertain significance 317165 rs886051490 GRCh37: 15:77287548-77287548
GRCh38: 15:76995207-76995207
47 PSTPIP1 NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln) SNV Uncertain significance 317174 rs886051493 GRCh37: 15:77320952-77320952
GRCh38: 15:77028611-77028611
48 PSTPIP1 NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu) SNV Uncertain significance 317184 rs768897476 GRCh37: 15:77328236-77328236
GRCh38: 15:77035895-77035895
49 PSTPIP1 NM_003978.5(PSTPIP1):c.418-4_418-3del Deletion Uncertain significance 317173 rs749862420 GRCh37: 15:77320888-77320889
GRCh38: 15:77028547-77028548
50 PSTPIP1 NM_003978.5(PSTPIP1):c.*123T>C SNV Uncertain significance 317195 rs886051494 GRCh37: 15:77329640-77329640
GRCh38: 15:77037299-77037299

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

72
# 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:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

Cellular components related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.73 WAS PTPN12 PSTPIP2 PSTPIP1 NLRP3 MVK
2 cytoplasm GO:0005737 9.47 WAS PTPN12 PSTPIP2 PSTPIP1 NLRP3 NLRP12
3 actin filament GO:0005884 9.43 WAS PSTPIP2 PSTPIP1
4 NLRP3 inflammasome complex GO:0072559 9.16 NLRP3 CASP1

Biological processes related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.98 PSTPIP1 NLRP3 NLRP12 IL1RN IL1RL2 IL1B
2 cytokine-mediated signaling pathway GO:0019221 9.67 IL1RN IL1RL2 IL1B CASP1
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.63 NLRP3 IL1B CARD14
4 interleukin-1-mediated signaling pathway GO:0070498 9.58 IL1RN IL1RL2 IL1B
5 positive regulation of interleukin-1 beta production GO:0032731 9.5 NLRP3 NLRP12 CASP1
6 negative regulation of inflammatory response GO:0050728 9.46 NLRP3 NLRP12 MVK MEFV
7 actin filament polymerization GO:0030041 9.43 WAS PSTPIP2 PSTPIP1
8 inflammatory response GO:0006954 9.43 PSTPIP1 NLRP3 MEFV IL1RN IL1RL2 IL1B
9 cellular response to cytokine stimulus GO:0071345 8.92 PTPN12 NLRP12 IL1RL2 CASP1

Molecular functions related to Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 WAS PSTPIP1 NLRP3 MVK MEFV FCHO2
2 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.32 NLRP12 CASP1
3 CARD domain binding GO:0050700 9.26 CASP1 CARD14
4 interleukin-1 receptor binding GO:0005149 9.16 IL1RN IL1B
5 cytoskeletal protein binding GO:0008092 8.8 PSTPIP2 PSTPIP1 FCHO2

Sources for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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