PAPAS
MCID: PYG003
MIFTS: 44

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
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 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. Affiliated tissues include skin, neutrophil and lung, and related phenotypes are arthritis and proteinuria

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

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:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 bartsocas-papas syndrome 12.6
2 fragile site, distamycin a type, rare, fra(16)(q22.1) 12.1
3 fragile x syndrome 11.6
4 pyogenic arthritis, pyoderma gangrenosum and acne 11.4
5 polydactyly, postaxial, type a1 11.3
6 fraxd 11.1
7 arthritis 10.5
8 pyoderma 10.5
9 pyoderma gangrenosum 10.5
10 autism 10.2
11 chagas disease 10.1
12 neurofibromatosis, type ii 10.1
13 multiple pterygium syndrome, escobar variant 10.1
14 leukemia 10.0
15 sarcoma 10.0
16 plague 10.0
17 osteoporotic fracture 10.0
18 popliteal pterygium syndrome 9.9
19 triiodothyronine receptor auxiliary protein 9.9
20 chand syndrome 9.9
21 familial mediterranean fever 9.9
22 multiple pterygium syndrome, lethal type 9.9
23 synpolydactyly 9.9
24 hidradenitis 9.9
25 septic arthritis 9.9
26 arteries, anomalies of 9.9
27 coronary artery anomaly 9.9
28 ischemic heart disease 9.9
29 heart disease 9.9
30 headache 9.9
31 blood group, colton system 9.9
32 sotos syndrome 1 9.9
33 nondisjunction 9.9
34 down syndrome 9.9
35 ablepharon-macrostomia syndrome 9.9
36 lung cancer 9.9
37 endometrial cancer 9.9
38 spondylocostal dysostosis 3, autosomal recessive 9.9
39 ewing sarcoma 9.9
40 membranous nephropathy 9.9
41 neutropenia 9.9
42 brachydactyly 9.9
43 autism spectrum disorder 9.9
44 pollen allergy 9.9
45 rabies 9.9
46 biliary atresia 9.9
47 dysostosis 9.9
48 turner syndrome 9.9
49 hydrocele 9.9
50 gigantism 9.9

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

Search Clinical Trials , 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, Lung, Bone, Testes, Brain, Heart

Publications for Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

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

(show top 50) (show all 259)
# Title Authors Year
1
Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature. ( 30225645 )
2018
2
The expression analysis of Fra-1 gene and IL-11 protein in Iranian patients with ulcerative colitis. ( 29914371 )
2018
3
MiR-124-3p suppresses glioma aggressiveness via targeting of Fra-2. ( 30243808 )
2018
4
Fra-2 is a novel candidate drug target expressed in the podocytes of lupus nephritis. ( 30296590 )
2018
5
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome. ( 30131320 )
2018
6
A single nucleotide polymorphism in the "Fra" gene results in fractured starch granules in barley. ( 29098311 )
2018
7
Integrin-uPAR signaling leads to FRA-1 phosphorylation and enhanced breast cancer invasion. ( 29382358 )
2018
8
Overexpression of Fra-1, c-Jun and c-Fos in odontogenic keratocysts: potential correlation with proliferative and anti-apoptotic activity. ( 29993138 )
2018
9
Effect of the Strawberry Genotype, Cultivation and Processing on the Fra a 1 Allergen Content. ( 30004458 )
2018
10
Fra-2 Expression in Osteoblasts Regulates Systemic Inflammation and Lung Injury through Osteopontin. ( 30181393 )
2018
11
Prognostic value from integrative analysis of transcription factors c-Jun and Fra-1 in oral squamous cell carcinoma: a multicenter cohort study. ( 28790303 )
2017
12
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts. ( 28251506 )
2017
13
Fra-1 Regulates the Expression of HMGA1, Which is Associated with a Poor Prognosis in Human Esophageal Squamous Cell Carcinoma. ( 27882471 )
2017
14
Assessing Risk of Osteoporotic Fractures in Primary Care: Development and Validation of the FRA-HS Algorithm. ( 28160026 )
2017
15
Erratum to: Assessing risk of osteoporotic fractures in primary care: development and validation of the FRA-HS algorithm. ( 28289801 )
2017
16
Differential expression of AP-1 transcription factors in human prostate LNCaP and PC-3 cells: role of Fra-1 in transition to CRPC status. ( 28386843 )
2017
17
Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcription. ( 28566276 )
2017
18
Expression Profiling of Strawberry Allergen Fra a during Fruit Ripening Controlled by Exogenous Auxin. ( 28574483 )
2017
19
MLK3 regulates FRA-1 and MMPs to drive invasion and transendothelial migration in triple-negative breast cancer cells. ( 28604765 )
2017
20
Physical interaction between the strawberry allergen Fra a 1 and an associated partner FaAP: Interaction of Fra a 1 proteins and FaAP. ( 28656626 )
2017
21
Fra-2 negatively regulates postnatal alveolar septation by modulating myofibroblast function. ( 28818870 )
2017
22
Linear Integration of ERK Activity Predominates over Persistence Detection in Fra-1 Regulation. ( 29199017 )
2017
23
Inhibition of Osteoarthritis by Adipose-Derived Stromal Cells Overexpressing Fra-1 in Mice. ( 26361381 )
2016
24
HDAC inhibitors suppress c-Jun/Fra-1-mediated proliferation through transcriptionally downregulating MKK7 and Raf1 in neuroblastoma cells. ( 26734995 )
2016
25
Histone Demethylation and Toll-like Receptor 8-Dependent Cross-Talk in Monocytes Promotes Transdifferentiation of Fibroblasts in Systemic Sclerosis Via Fra-2. ( 26814616 )
2016
26
Fra a 1.02 Is the Most Potent Isoform of the Bet v 1-like Allergen in Strawberry Fruit. ( 27086707 )
2016
27
Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. ( 25845478 )
2015
28
FRA-1 as a driver of tumour heterogeneity: a nexus between oncogenes and embryonic signalling pathways in cancer. ( 25381818 )
2015
29
Terminal epidermal differentiation is regulated by the interaction of Fra-2/AP-1 with Ezh2 and ERK1/2. ( 25547114 )
2015
30
Visualization of Fra-1/AP-1 activation during LPS-induced inflammatory lung injury using fluorescence optical imaging. ( 26071555 )
2015
31
Requirement of Fra proteins for communication channels between cells in the filamentous nitrogen-fixing cyanobacterium Anabaena sp. PCC 7120. ( 26216997 )
2015
32
Serum from patients with ankylosing spondylitis can increase PPARD, fra-1, MMP7, OPG and RANKL expression in MG63 cells. ( 26602520 )
2015
33
A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. ( 24960411 )
2014
34
Astrocytoma-associated antigens - IL13Rα2, Fra-1, and EphA2 as potential markers to monitor the status of tumour-derived cell cultures in vitro. ( 25788865 )
2014
35
Fever of undetermined origin in a patient with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). ( 24603749 )
2014
36
Radiographic analysis of PEEK cage and FRA in adult spinal deformity fused to sacrum. ( 22643185 )
2014
37
Activator Protein 1 transcription factor Fos-related antigen 1 (Fra-1) is dispensable for murine liver fibrosis, but modulates xenobiotic metabolism. ( 23703832 )
2014
38
MicroRNA-19a-3p inhibits breast cancer progression and metastasis by inducing macrophage polarization through downregulated expression of Fra-1 proto-oncogene. ( 23831570 )
2014
39
Fra, Fra away: the complex role of activator protein 1 in liver injury. ( 23904356 )
2014
40
Fra-2/AP-1 controls adipocyte differentiation and survival by regulating PPARγ and hypoxia. ( 24464219 )
2014
41
Retinoblastoma protein and MyoD function together to effect the repression of Fra-1 and in turn cyclin D1 during terminal cell cycle arrest associated with myogenesis. ( 25006242 )
2014
42
Transcriptional complexity and roles of Fra-1/AP-1 at the uPA/Plau locus in aggressive breast cancer. ( 25200076 )
2014
43
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. ( 23293022 )
2013
44
Osteogenic differentiation of C2C12 myogenic progenitor cells requires the Fos-related antigen Fra-1 - a novel target of Runx2. ( 23159633 )
2013
45
The Fra-2 transgenic mouse model of systemic sclerosis. ( 23232070 )
2013
46
Folate receptor alpha (FRA) expression remains unchanged in epithelial ovarian and endometrial cancer after chemotherapy. ( 23558051 )
2013
47
Expression of claudin, paxillin and FRA-1 in non-nodular breast lesions in association with microcalcifications. ( 23657508 )
2013
48
Purification, crystallization and preliminary X-ray analysis of the strawberry allergens Fra a 1E and Fra a 3 in the presence of catechin. ( 23695565 )
2013
49
Signal-dependent fra-2 regulation in skeletal muscle reserve and satellite cells. ( 23807221 )
2013
50
Osteoblast-specific expression of Fra-2/AP-1 controls adiponectin and osteocalcin expression and affects metabolism. ( 24046454 )
2013

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 160)
# 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.741+32_741+33dupGT insertion not provided rs104895417 GRCh37 Chromosome 15, 77323651: 77323652
6 PSTPIP1 NM_003978.4(PSTPIP1): c.741+32_741+33dupGT insertion not provided rs104895417 GRCh38 Chromosome 15, 77031310: 77031311
7 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
8 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
9 PSTPIP1 NM_003978.4(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 GRCh37 Chromosome 15, 77324693: 77324693
10 PSTPIP1 NM_003978.4(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 GRCh38 Chromosome 15, 77032352: 77032352
11 PSTPIP1 NM_003978.4(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 GRCh38 Chromosome 15, 77018523: 77018523
12 PSTPIP1 NM_003978.4(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 GRCh37 Chromosome 15, 77310864: 77310864
13 PSTPIP1 NM_003978.4(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 GRCh38 Chromosome 15, 77018543: 77018543
14 PSTPIP1 NM_003978.4(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 GRCh37 Chromosome 15, 77310884: 77310884
15 PSTPIP1 NM_003978.4(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 GRCh38 Chromosome 15, 77025614: 77025614
16 PSTPIP1 NM_003978.4(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 GRCh37 Chromosome 15, 77317955: 77317955
17 PSTPIP1 NM_003978.4(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 GRCh38 Chromosome 15, 77032342: 77032342
18 PSTPIP1 NM_003978.4(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 GRCh37 Chromosome 15, 77324683: 77324683
19 PSTPIP1 NM_003978.4(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 GRCh38 Chromosome 15, 77032393: 77032393
20 PSTPIP1 NM_003978.4(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 GRCh37 Chromosome 15, 77324734: 77324734
21 PSTPIP1 NM_003978.4(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 GRCh38 Chromosome 15, 77032931: 77032931
22 PSTPIP1 NM_003978.4(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 GRCh37 Chromosome 15, 77325272: 77325272
23 PSTPIP1 NM_003978.4(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 GRCh38 Chromosome 15, 77037131: 77037131
24 PSTPIP1 NM_003978.4(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 GRCh37 Chromosome 15, 77329472: 77329472
25 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh38 Chromosome 15, 77025307: 77025307
26 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh37 Chromosome 15, 77317648: 77317648
27 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh38 Chromosome 15, 77037133: 77037133
28 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh37 Chromosome 15, 77329474: 77329474
29 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh38 Chromosome 15, 77037138: 77037138
30 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh37 Chromosome 15, 77329479: 77329479
31 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh37 Chromosome 15, 77329417: 77329417
32 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh38 Chromosome 15, 77037076: 77037076
33 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh37 Chromosome 15, 77323535: 77323535
34 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh38 Chromosome 15, 77031194: 77031194
35 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh38 Chromosome 15, 77032905: 77032905
36 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh37 Chromosome 15, 77325246: 77325246
37 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh37 Chromosome 15, 77329487: 77329487
38 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh38 Chromosome 15, 77037146: 77037146
39 PSTPIP1 NM_003978.4(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 GRCh37 Chromosome 15, 77310807: 77310807
40 PSTPIP1 NM_003978.4(PSTPIP1): c.147G> A (p.Ala49=) single nucleotide variant Benign/Likely benign rs34618738 GRCh38 Chromosome 15, 77018466: 77018466
41 PSTPIP1 NM_003978.4(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 GRCh37 Chromosome 15, 77324670: 77324670
42 PSTPIP1 NM_003978.4(PSTPIP1): c.773G> C (p.Gly258Ala) single nucleotide variant Benign/Likely benign rs34240327 GRCh38 Chromosome 15, 77032329: 77032329
43 PSTPIP1 NM_003978.4(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 GRCh38 Chromosome 15, 77032938: 77032938
44 PSTPIP1 NM_003978.4(PSTPIP1): c.915C> T (p.Cys305=) single nucleotide variant Benign rs11858480 GRCh37 Chromosome 15, 77325279: 77325279
45 PSTPIP1 NM_003978.4(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 GRCh38 Chromosome 15, 77035914: 77035914
46 PSTPIP1 NM_003978.4(PSTPIP1): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs35538044 GRCh37 Chromosome 15, 77328255: 77328255
47 PSTPIP1 NM_003978.4(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 GRCh37 Chromosome 15, 77320202: 77320202
48 PSTPIP1 NM_003978.4(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 GRCh38 Chromosome 15, 77027861: 77027861
49 PSTPIP1 NM_003978.4(PSTPIP1): c.-405_-402dupCCTG duplication Benign rs55909412 GRCh38 Chromosome 15, 76995169: 76995172
50 PSTPIP1 NM_003978.4(PSTPIP1): c.-405_-402dupCCTG duplication Benign rs55909412 GRCh37 Chromosome 15, 77287510: 77287513

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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