PSORS14
MCID: PSR021
MIFTS: 57

Psoriasis 14, Pustular (PSORS14)

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

Aliases & Classifications for Psoriasis 14, Pustular

MalaCards integrated aliases for Psoriasis 14, Pustular:

Name: Psoriasis 14, Pustular 57 20 72
Generalized Pustular Psoriasis 57 20 43 58 72 70 32
Gpp 57 20 43 58 72
Acrodermatitis Continua of Hallopeau 57 12 58 72
Ditra 57 43 58 72
Interleukin 36 Receptor Antagonist Deficiency 57 72
Deficiency of Il-36r Antagonist 12 58
Pustular Psoriasis, Generalized 29 6
Palmoplantar Pustulosis 57 72
Pustular Psoriasis 14 12 15
Psors14 57 72
Psorp 57 72
Interleukin 36 Receptor Antagonist Deficiency; Ditra 57
Deficiency of the Interleukin-36 Receptor Antagonist 43
Generalized Pustular Psoriasis of Von Zumbusch 43
Acute Generalised Pustular Psoriasis 43
Acute Generalized Pustular Psoriasis 70
Generalized Pustular Psoriasis; Gpp 57
Psoriasis, Pustular, Generalized 39
Psoriasis, Generalized Pustular 13
Pustulosis of Palms and Soles 70
Psoriasis, Pustular, Type 14 39
Von Zumbusch Psoriasis 43
Deficiency of Il-36ra 58

Characteristics:

Orphanet epidemiological data:

58
acrodermatitis continua of hallopeau
Inheritance: Autosomal recessive;
generalized pustular psoriasis
Inheritance: Autosomal recessive,Not applicable; Age of onset: Adult;
ditra
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules


HPO:

31

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0080474
OMIM® 57 614204
OMIM Phenotypic Series 57 PS177900
MeSH 44 D011565
ICD10 32 L40.1
ICD10 via Orphanet 33 L40.1 L40.2
UMLS via Orphanet 71 C0343055
UMLS 70 C0030246 C0343055 C0343056

Summaries for Psoriasis 14, Pustular

MedlinePlus Genetics : 43 Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, when inflammation is abnormal and uncontrolled, it can damage the body's tissues and organs. Individuals with GPP have repeated episodes in which large areas of skin become red and inflamed and develop small pus-filled blisters (pustules). The skin problems can be accompanied by fever, extreme tiredness (fatigue), muscle weakness, an increased number of white blood cells, and other signs of inflammation throughout the body (systemic inflammation). The inflammation problems subside and reappear often. Episodes can be triggered by infection, exposure to or withdrawal from certain medications, menstruation, or pregnancy, although the trigger is often unknown. GPP can be life-threatening if not treated.While many affected individuals have features only of GPP (called GPP alone), some develop features of another skin condition called psoriasis vulgaris (PV), either before or after GPP appears. PV, the most common form of psoriasis, is characterized by red, scaly patches of skin (plaques) on parts of the body.

MalaCards based summary : Psoriasis 14, Pustular, also known as generalized pustular psoriasis, is related to pustulosis palmaris et plantaris and impetigo herpetiformis. An important gene associated with Psoriasis 14, Pustular is IL36RN (Interleukin 36 Receptor Antagonist), and among its related pathways/superpathways is Toll-Like receptor Signaling Pathways. The drugs Ixekizumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and thyroid, and related phenotypes are furrowed tongue and nail dystrophy

Disease Ontology : 12 A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has material basis in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14.

GARD : 20 Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes ( mutations ) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms.

OMIM® : 57 Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris (PV; see 177900); however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013). GPP in association with sterile multifocal osteomyelitis and periostitis (612852) is caused by mutation in the IL1RN gene (147679). Capon (2013) noted that the percentage of GPP patients reported to be negative for mutation in IL36RN ranges from 51 to 84%, indicative of genetic heterogeneity in the generalized pustular form of psoriasis. For a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900). (614204) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Psoriasis 14, pustular: A life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein.

Wikipedia : 73 Generalized pustular psoriasis (GPP) is an extremely rare type of psoriasis that can present in a... more...

Related Diseases for Psoriasis 14, Pustular

Diseases in the Pustular Psoriasis family:

Psoriasis 14, Pustular Psoriasis 15, Pustular

Diseases related to Psoriasis 14, Pustular via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 276)
# Related Disease Score Top Affiliating Genes
1 pustulosis palmaris et plantaris 32.1 TNF IL36RN AP1S3
2 impetigo herpetiformis 31.3 IL36RN IL1RL2 CARD14
3 acute generalized exanthematous pustulosis 31.1 IL36RN IL17A
4 geographic tongue 30.9 IL36RN IL1RL2
5 nasopharyngitis 30.6 TNF IL17A
6 pustular psoriasis 30.5 TNF IL36RN AP1S3
7 skin disease 30.4 TNF IL36RN IL17A CARD14 AP1S3
8 psoriasis 2 30.4 LCE3C LCE3B CARD14
9 acrodermatitis 30.2 IL36RN AP1S3
10 psoriasis 15 30.2 IL17A AP1S3
11 psoriasis 1 29.9 TNIP1 LCE3C LCE3B CARD14
12 periostitis 29.9 PSTPIP1 IL36RN IL1RL2
13 pyoderma 29.8 TNF PSTPIP1 IL36RN
14 psoriatic arthritis 29.7 TNIP1 TNF LCE3C LCE3B IL36RN IL17A
15 psoriasis 29.7 TNF LCE3B IL36RN IL17A CARD14 AP1S3
16 chronic recurrent multifocal osteomyelitis 29.6 TNF PSTPIP1
17 pustulosis of palm and sole 29.0 TNF PSTPIP1 IL36RN IL1RL2 IL17A CARD14
18 pityriasis rubra pilaris 28.7 TNF PSTPIP1 IL36RN IL1RL2 IL17A CARD14
19 inflammatory spondylopathy 10.5
20 spondylitis 10.5
21 paronychia 10.5
22 keratosis 10.5
23 acne 10.5
24 spondyloarthropathy 1 10.4
25 plica syndrome 10.4
26 synovitis 10.4
27 bone inflammation disease 10.4
28 sapho syndrome 10.4
29 autoimmune disease 10.4
30 hypoparathyroidism 10.4
31 adult respiratory distress syndrome 10.4
32 impetigo 10.4
33 pompholyx 10.3
34 arthritis 10.3
35 cholangitis 10.3
36 atrophic glossitis 10.3 IL36RN IL1RL2
37 metal allergy 10.3
38 exanthem 10.3
39 familial cold autoinflammatory syndrome 2 10.3 IL1RL2 CARD14
40 dermatitis, atopic 10.3
41 inflammatory bowel disease 10.3
42 pemphigoid 10.3
43 capillary leak syndrome 10.3
44 dermatitis 10.3
45 vasculitis 10.3
46 spondylarthropathy 10.3
47 psoriasis 10 10.2 LCE3C CARD14
48 pemphigus vulgaris, familial 10.2
49 chromosome 2q35 duplication syndrome 10.2
50 down syndrome 10.2

Graphical network of the top 20 diseases related to Psoriasis 14, Pustular:



Diseases related to Psoriasis 14, Pustular

Symptoms & Phenotypes for Psoriasis 14, Pustular

Human phenotypes related to Psoriasis 14, Pustular:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 furrowed tongue 31 very rare (1%) HP:0000221
2 nail dystrophy 31 very rare (1%) HP:0008404
3 elevated c-reactive protein level 31 very rare (1%) HP:0011227
4 leukocytosis 31 very rare (1%) HP:0001974
5 psoriasiform dermatitis 31 very rare (1%) HP:0003765
6 neutrophilia 31 very rare (1%) HP:0011897
7 polyarticular arthritis 31 very rare (1%) HP:0005764
8 epidermal acanthosis 31 very rare (1%) HP:0025092
9 parakeratosis 31 very rare (1%) HP:0001036
10 oligoarthritis 31 very rare (1%) HP:0040313
11 cholangitis 31 very rare (1%) HP:0030151
12 geographic tongue 31 very rare (1%) HP:0025252
13 fever 31 HP:0001945
14 erythema 31 HP:0010783
15 pustule 31 HP:0200039

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
acanthosis
elongation of rete ridges
spongiform pustules
parakeratosis in stratum corneum

Skin Nails Hair Nails:
nail dystrophy (in some patients)

Abdomen Biliary Tract:
cholangitis (in some patients)

Skin Nails Hair Skin:
pustular psoriasis, generalized

Laboratory Abnormalities:
increased serum c-reactive protein (crp, )

Head And Neck Mouth:
geographic tongue (in some patients)
scrotal tongue (in some patients)
lingual erythema migrans (in some patients)

Skeletal:
oligoarthritis (in some patients)
polyarthritis (rare)

Metabolic Features:
fever, high-grade

Clinical features from OMIM®:

614204 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Psoriasis 14, Pustular:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 CARD14 IL17A IL1RAP IL1RL2 IL36RN TNF

Drugs & Therapeutics for Psoriasis 14, Pustular

Drugs for Psoriasis 14, Pustular (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ixekizumab Approved, Investigational Phase 4 1143503-69-8
2 Dermatologic Agents Phase 4
3
Adalimumab Approved, Experimental Phase 3 331731-18-1 16219006
4
tannic acid Approved Phase 3 1401-55-4
5
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
6
Brodalumab Approved, Investigational Phase 3 1174395-19-7
7 Antibodies Phase 3
8 Immunoglobulins Phase 3
9 Antibodies, Monoclonal Phase 3
10 Immunologic Factors Phase 3
11
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
12 Vaccines Phase 2
13 Antirheumatic Agents Phase 2
14 Anti-Inflammatory Agents Phase 2
15 Pharmaceutical Solutions Phase 2
16 Analgesics, Non-Narcotic Phase 2
17 Analgesics Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 2
19
Sargramostim Approved, Investigational Phase 1 123774-72-1, 83869-56-1
20
Lenograstim Approved, Investigational Phase 1 135968-09-1
21
Molgramostim Investigational Phase 1 99283-10-0
22 Adjuvants, Immunologic Phase 1

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-Label, Post Marketing Clinical Trial to Evaluate the Efficacy And Safety Of Ixekizumab in Patients With Generalized Pustular Psoriasis and Erythrodermic Psoriasis Completed NCT03942042 Phase 4 Ixekizumab
2 An Extension Study of Brodalumab in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma Completed NCT04183881 Phase 4 Brodalumab 210mg SC
3 A Multi-center, Open Label Study of Subcutaneous Secukinumab in Prefilled Syringes as Mono- or Co-therapy to Assess the Efficacy, Safety and Tolerability in Japanese Subjects With Generalized Pustular Psoriasis Completed NCT01952015 Phase 3
4 A Multicenter, Open-Label Study of Adalimumab in Japanese Subjects With Generalized Pustular Psoriasis Completed NCT02533375 Phase 3 Adalimumab
5 A Phase 3, Randomized, Open-Label Study to Assess Efficacy and Safety of Two Different Dose Regimens of Risankizumab Administered Subcutaneously in Japanese Subjects With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Completed NCT03022045 Phase 3 risankizumab
6 A Phase 3, Multicenter, Open-Label Study Evaluating the Efficacy and Safety of CNTO1959 (Guselkumab) in the Treatment of Subjects With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Completed NCT02343744 Phase 3 Guselkumab
7 A Long-Term Study of KHK4827 in Subjects With Pustular Psoriasis (Generalized) and Psoriatic Erythroderma Completed NCT01782937 Phase 3 KHK4827
8 An Extension Study of KHK4827 in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma Completed NCT02052609 Phase 3 KHK4827 140mg SC;KHK4827 210mg SC
9 A Phase 3, Multicenter, Randomized, Double-blind, Placebo Controlled Study Evaluating the Efficacy and Safety of Guselkumab for the Treatment of Subjects With Palmoplantar Pustulosis Completed NCT02641730 Phase 3 Guselkumab;Placebo
10 A 52-week, Multicenter, Randomized, Double-blind, Placebo-controlled Study of Subcutaneous Secukinumab to Demonstrate Efficacy as Assessed by Palmoplantar Pustulosis Psoriasis Area and Severity Index (ppPASI) at 16 Weeks of Treatment, Compared to Placebo, and to Assess Long-term Safety, Tolerability, and Efficacy in Subjects With Moderate to Severe Chronic Palmoplantar Pustular Psoriasis - Amended With an Optional Extension Treatment Period of up to a Total of 148 Weeks Completed NCT02008890 Phase 3
11 A Phase 3, Multicenter, Randomized, Placebo-Controlled, Double-Blind Study to Evaluate Risankizumab in Adult Japanese Subjects With Moderate to Severe Palmoplantar Pustulosis Recruiting NCT04451720 Phase 3 Risankizumab;Placebo
12 A Phase 3, Placebo-Controlled, Double-Blind Comparative Study of KHK4827 With an Open-Label Extension in Subjects With Palmoplantar Pustulosis Recruiting NCT04061252 Phase 3 KHK4827;Placebo
13 Effisayil™ 1:Multi-center, Double-blind, Randomised, Placebo-controlled, Phase II Study to Evaluate Efficacy, Safety and Tolerability of a Single Intravenous Dose of BI 655130 in Patients With Generalized Pustular Psoriasis (GPP) Presenting With an Acute Flare of Moderate to Severe Intensity. Completed NCT03782792 Phase 2 Spesolimab;Placebo
14 A Single Arm Multiple Dose Study to Assess the Efficacy and Safety of ANB019 in Subjects With Generalized Pustular Psoriasis Completed NCT03619902 Phase 2 ANB019
15 A Randomized, Double-Blind, Placebo-Controlled, Phase 2a Study to Evaluate the Efficacy and Safety of RIST4721 in Subjects With Palmoplantar Pustulosis Completed NCT03988335 Phase 2 RIST4721;Placebo
16 A Multicenter, Open Label, Single-arm Pilot Study to Evaluate the Efficacy and Safety of Oral Apremilast in Patients With Moderate to Severe Palmoplantar Pustulosis (PPP) (APLANTUS) Completed NCT04572997 Phase 2 Apremilast
17 Multi-center, Double-blind, Randomised, Placebo-controlled, Phase IIa Study to Investigate Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacogenomics of Multiple Intravenous Doses of BI 655130 in Patients With Palmoplantar Pustulosis (PPP) Completed NCT03135548 Phase 2 Spesolimab (low dose);Placebo;Spesolimab (high dose)
18 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Assess the Efficacy, Safety and Tolerability of CNTO 1959, a Human Anti-IL 23 Monoclonal Antibody, Following Subcutaneous Administration in Subjects With Palmoplantar Pustulosis Completed NCT01845987 Phase 2 Placebo;CNTO 1959
19 Effisayil™ 2: Multi-center, Randomized, Parallel Group, Double Blind, Placebo Controlled, Phase IIb Dose-finding Study to Evaluate Efficacy and Safety of BI 655130 (Spesolimab) Compared to Placebo in Preventing Generalized Pustular Psoriasis (GPP) Flares in Patients With History of GPP Recruiting NCT04399837 Phase 2 Spesolimab;Placebo
20 An Open-label, Long Term Extension Study to Assess the Safety and Efficacy of BI 655130 Treatment in Patients With Generalized Pustular Psoriasis (GPP) Recruiting NCT03886246 Phase 2 Spesolimab;Spesolimab
21 An Open-label, Long Term Safety Trial of Spesolimab Treatment in Patients With Palmoplantar Pustulosis (PPP) Who Have Completed Previous BI Spesolimab Trials Recruiting NCT04493424 Phase 2 Spesolimab
22 A Phase II, Randomized, Placebo-controlled, Double-blind, Multiple Dose Study to Evaluate the Efficacy and Safety of ANB019 in Subjects With Palmoplantar Pustulosis Active, not recruiting NCT03633396 Phase 2 Placebo
23 Multi-center, Double-blind, Randomised, Placebo-controlled, Phase IIb Dose-finding Study to Evaluate Safety and Efficacy of Different Subcutaneous Doses of BI 655130 in Patients With Moderate to Severe Palmoplantar Pustulosis (PPP) Active, not recruiting NCT04015518 Phase 2 Spesolimab;Placebo
24 A Phase 2, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Apremilast (CC-10004) in the Treatment of Palmoplantar Pustulosis in Japan Active, not recruiting NCT04057937 Phase 2 Apremilast;Placebo
25 Double-blind, Randomized, Right-left Study Comparing TEPSO® Socks With Standard Socks in Improving Palmoplantar Pustulosis Terminated NCT01197989 Phase 2
26 Multi-centre, Open-label, Single Arm, Phase I Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacogenomics and Efficacy of a Single Intravenous Dose of BI 655130 in Patients With Active Generalized Pustular Psoriasis. Completed NCT02978690 Phase 1 BI655130
27 A Multicenter, Open-label, 2-regimen, Repeat-dose Study to Assess the Safety and Pharmacokinetics of Intravenous CSL324 in Subjects With Hidradenitis Suppurativa and Palmoplantar Pustulosis Recruiting NCT03972280 Phase 1
28 The Immune Signature of Palmoplantar Pustulosis Completed NCT01780857
29 Registry of Palmoplantar Pustulosis (PPP) Treatment Patterns, Disease Burden and Treatment Outcomes in Japan Recruiting NCT04459507
30 Palmoplantar Pustulosis and Generalized Pustular Psoriasis: A National Population-based Analysis of Prevalence Active, not recruiting NCT04566471

Search NIH Clinical Center for Psoriasis 14, Pustular

Genetic Tests for Psoriasis 14, Pustular

Genetic tests related to Psoriasis 14, Pustular:

# Genetic test Affiliating Genes
1 Pustular Psoriasis, Generalized 29 IL36RN

Anatomical Context for Psoriasis 14, Pustular

MalaCards organs/tissues related to Psoriasis 14, Pustular:

40
Skin, Tongue, Thyroid, Neutrophil, Endothelial, Thymus, Kidney

Publications for Psoriasis 14, Pustular

Articles related to Psoriasis 14, Pustular:

(show top 50) (show all 579)
# Title Authors PMID Year
1
The genetic basis for most patients with pustular skin disease remains elusive. 61 57 6
28887889 2018
2
Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris. 6 57 61
23863864 2013
3
Mutations in IL36RN in patients with generalized pustular psoriasis. 57 6 61
23648549 2013
4
The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist. 57 6 61
23698098 2013
5
Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis. 6 57 61
22903787 2013
6
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. 61 57 6
21839423 2011
7
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. 61 6 57
21848462 2011
8
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. 57 6
23303454 2013
9
Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes. 61 6
28063630 2017
10
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases. 61 6
27220475 2016
11
Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status. 61 6
27096382 2016
12
Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients. 6 61
26589685 2016
13
Mutation analysis of IL36RN in a Chinese Daur family with generalized pustular psoriasis. 61 6
24979538 2014
14
IL36RN mutations in generalized pustular psoriasis: just the tip of the iceberg? 57 61
24129779 2013
15
Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: evidence that it is a variant of pustular psoriasis. 6 61
23428889 2013
16
A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis. 6 61
22428995 2012
17
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients. 6
25989471 2015
18
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 6
24791904 2014
19
Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris. 57
23792462 2014
20
Unmet Medical Needs in the Treatment and Management of Generalized Pustular Psoriasis Flares: Evidence from a Survey of Corrona Registry Dermatologists. 61
33638115 2021
21
Novel IL36RN Mutation Identified in Pediatric-Onset Generalized Pustular Psoriasis Causes IL36 Antagonist Degradation. 61
33415665 2021
22
Drug survival in the treatment of generalized pustular psoriasis: A retrospective multicenter study. 61
33497511 2021
23
Successful treatment of paediatric generalized pustular psoriasis with secukinumab: a case series. 61
33706651 2021
24
Case of generalized pustular psoriasis preceded by acute generalized pustular bacterid-like eruptions on the palms and soles. 61
33715211 2021
25
[Successful treatment of generalized pustular psoriasis with certolizumab]. 61
33687481 2021
26
Economic burden of generalized pustular psoriasis and palmoplantar pustulosis in the United States. 61
33622113 2021
27
Study protocol of the global Effisayil 1 Phase II, multicentre, randomised, double-blind, placebo-controlled trial of spesolimab in patients with generalized pustular psoriasis presenting with an acute flare. 61
33785490 2021
28
Validation of psoriasis disability index (PDI) questionnaire Sinhala version. 61
33675385 2021
29
Excellent response to secukinumab in an infant with severe generalized pustular psoriasis. 61
33543522 2021
30
Improved quality of life of patients with generalized pustular psoriasis in Japan: A cross-sectional survey. 61
33099802 2021
31
Significance of IL36RN mutation analyses in the management of impetigo herpetiformis: A case report and review of published cases. 61
33599999 2021
32
Interleukin-36: Structure, Signaling and Function. 61
32026417 2021
33
Generalized pustular psoriasis following COVID-19. 61
33244885 2021
34
Generalized Pustular Psoriasis in Patients with Interferon Gamma (IFN-γ) Receptor Deficiency and Mycobacterial Infection. 61
33502705 2021
35
Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab. 61
33063316 2021
36
Involution of classic Kaposi sarcoma lesions under acitretin treatment Kaposi sarcoma treated with acitretin. 61
33363930 2020
37
Relationship Between Rapid Skin Clearance and Quality of Life Benefit: Post Hoc Analysis of Japanese Patients with Moderate-to-Severe Psoriasis Treated with Ixekizumab (UNCOVER-J). 61
32910360 2020
38
Enhanced IL-36R signaling promotes barrier impairment and inflammation in skin and intestine. 61
33443029 2020
39
Association between mutation of interleukin 36 receptor antagonist and generalized pustular psoriasis: A PRISMA-compliant systematic review and meta-analysis. 61
33157966 2020
40
Intensive granulocyte and monocyte adsorption apheresis for generalized pustular psoriasis. 61
32860246 2020
41
Combination therapy with biologic and colchicine for generalized pustular psoriasis. 61
32492187 2020
42
Generalized pustular psoriasis-Dawn of a new era in targeted immunotherapy. 61
32780422 2020
43
Successful treatment of generalized pustular psoriasis with secukinumab: a report of two cases. 61
33237694 2020
44
Successful use of lymphoplasma exchange in a patient with acute generalized pustular psoriasis of von Zumbusch. 61
32720411 2020
45
A case of generalized pustular psoriasis and arthritis treated with ixekizumab. 61
30998424 2020
46
Thymus and activation-regulated chemokine (TARC) in patients with psoriasis: Increased serum TARC levels in patients with generalized pustular psoriasis. 61
32677127 2020
47
Efficacy of guselkumab in a subpopulation with pustulotic arthro-osteitis through week 52: an exploratory analysis of a phase 3, randomized, double-blind, placebo-controlled study in Japanese patients with palmoplantar pustulosis. 61
32173916 2020
48
IL-36 in chronic inflammation and cancer. 61
32540133 2020
49
A brief guide to pustular psoriasis for primary care providers. 61
33118424 2020
50
Clinical characteristics, genetics, comorbidities and treatment of palmoplantar pustulosis: A retrospective analysis of 66 cases in a single center in Taiwan. 61
32613680 2020

Variations for Psoriasis 14, Pustular

ClinVar genetic disease variations for Psoriasis 14, Pustular:

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL36RN NM_173170.1(IL36RN):c.80T>C (p.Leu27Pro) SNV Pathogenic 30489 rs387906914 GRCh37: 2:113818479-113818479
GRCh38: 2:113060902-113060902
2 IL36RN NM_173170.1(IL36RN):c.368C>G (p.Thr123Arg) SNV Pathogenic 40006 rs397514629 GRCh37: 2:113820154-113820154
GRCh38: 2:113062577-113062577
3 IL36RN NM_173170.1(IL36RN):c.304C>T (p.Arg102Trp) SNV Pathogenic 160374 rs199932303 GRCh37: 2:113820090-113820090
GRCh38: 2:113062513-113062513
4 IL36RN NM_012275.3(IL36RN):c.334G>T (p.Glu112Ter) SNV Pathogenic 1029184 GRCh37: 2:113820120-113820120
GRCh38: 2:113062543-113062543
5 AP1S3 NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) SNV risk factor 160375 rs138292988 GRCh37: 2:224642493-224642493
GRCh38: 2:223777776-223777776
6 AP1S3 NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) SNV risk factor 160376 rs116107386 GRCh37: 2:224642579-224642579
GRCh38: 2:223777862-223777862
7 overlap with 2 genes NC_000002.12:g.(?_113060832)_(113116890_?)del Deletion Likely pathogenic 832164 GRCh37: 2:113818409-113874467
GRCh38:
8 IL36RN NM_173170.1(IL36RN):c.6C>T (p.Val2=) SNV Conflicting interpretations of pathogenicity 529889 rs28938771 GRCh37: 2:113817021-113817021
GRCh38: 2:113059444-113059444
9 IL36RN NM_173170.1(IL36RN):c.227C>T (p.Pro76Leu) SNV Conflicting interpretations of pathogenicity 575254 rs139497891 GRCh37: 2:113819812-113819812
GRCh38: 2:113062235-113062235
10 IL36RN NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) SNV Conflicting interpretations of pathogenicity 30490 rs144478519 GRCh37: 2:113820124-113820124
GRCh38: 2:113062547-113062547
11 IL36RN NM_173170.1(IL36RN):c.363G>A (p.Leu121=) SNV Conflicting interpretations of pathogenicity 330780 rs151274071 GRCh37: 2:113820149-113820149
GRCh38: 2:113062572-113062572
12 IL36RN NM_173170.1(IL36RN):c.115+6T>C SNV Conflicting interpretations of pathogenicity 40005 rs148755083 GRCh37: 2:113818520-113818520
GRCh38: 2:113060943-113060943
13 IL36RN NM_173170.1(IL36RN):c.436A>G (p.Ile146Val) SNV Conflicting interpretations of pathogenicity 529886 rs202059991 GRCh37: 2:113820222-113820222
GRCh38: 2:113062645-113062645
14 IL36RN NM_012275.3(IL36RN):c.194G>A (p.Ser65Asn) SNV Uncertain significance 1045497 GRCh37: 2:113819779-113819779
GRCh38: 2:113062202-113062202
15 IL36RN NM_012275.3(IL36RN):c.*594T>C SNV Uncertain significance 892806 GRCh37: 2:113820848-113820848
GRCh38: 2:113063271-113063271
16 IL36RN NM_012275.3(IL36RN):c.*720G>T SNV Uncertain significance 892807 GRCh37: 2:113820974-113820974
GRCh38: 2:113063397-113063397
17 IL36RN NM_012275.3(IL36RN):c.*866G>A SNV Uncertain significance 892808 GRCh37: 2:113821120-113821120
GRCh38: 2:113063543-113063543
18 IL36RN NM_012275.3(IL36RN):c.*883T>C SNV Uncertain significance 892809 GRCh37: 2:113821137-113821137
GRCh38: 2:113063560-113063560
19 IL36RN NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser) SNV Uncertain significance 893581 GRCh37: 2:113820207-113820207
GRCh38: 2:113062630-113062630
20 IL36RN NM_012275.3(IL36RN):c.*106G>A SNV Uncertain significance 893582 GRCh37: 2:113820360-113820360
GRCh38: 2:113062783-113062783
21 IL36RN NM_012275.3(IL36RN):c.*1244A>G SNV Uncertain significance 893611 GRCh37: 2:113821498-113821498
GRCh38: 2:113063921-113063921
22 IL36RN NM_012275.3(IL36RN):c.*298G>A SNV Uncertain significance 893869 GRCh37: 2:113820552-113820552
GRCh38: 2:113062975-113062975
23 IL36RN NM_012275.3(IL36RN):c.*1405G>T SNV Uncertain significance 893898 GRCh37: 2:113821659-113821659
GRCh38: 2:113064082-113064082
24 IL36RN NM_012275.3(IL36RN):c.*1641C>G SNV Uncertain significance 893899 GRCh37: 2:113821895-113821895
GRCh38: 2:113064318-113064318
25 IL36RN NM_012275.3(IL36RN):c.*1698G>A SNV Uncertain significance 893900 GRCh37: 2:113821952-113821952
GRCh38: 2:113064375-113064375
26 IL36RN NM_012275.3(IL36RN):c.*1866T>C SNV Uncertain significance 894291 GRCh37: 2:113822120-113822120
GRCh38: 2:113064543-113064543
27 IL36RN NM_012275.3(IL36RN):c.*1891G>A SNV Uncertain significance 894292 GRCh37: 2:113822145-113822145
GRCh38: 2:113064568-113064568
28 IL36RN NM_012275.3(IL36RN):c.29+5G>A SNV Uncertain significance 894752 GRCh37: 2:113817049-113817049
GRCh38: 2:113059472-113059472
29 IL36RN NM_012275.3(IL36RN):c.*426G>T SNV Uncertain significance 894781 GRCh37: 2:113820680-113820680
GRCh38: 2:113063103-113063103
30 IL36RN NM_012275.3(IL36RN):c.123G>T (p.Glu41Asp) SNV Uncertain significance 934738 GRCh37: 2:113819708-113819708
GRCh38: 2:113062131-113062131
31 IL36RN NM_012275.3(IL36RN):c.369G>A (p.Thr123=) SNV Uncertain significance 936339 GRCh37: 2:113820155-113820155
GRCh38: 2:113062578-113062578
32 IL36RN NM_012275.3(IL36RN):c.349C>G (p.Pro117Ala) SNV Uncertain significance 1010242 GRCh37: 2:113820135-113820135
GRCh38: 2:113062558-113062558
33 IL36RN NM_012275.3(IL36RN):c.40T>G (p.Ser14Ala) SNV Uncertain significance 1015242 GRCh37: 2:113818439-113818439
GRCh38: 2:113060862-113060862
34 IL36RN NM_012275.3(IL36RN):c.351G>A (p.Pro117=) SNV Uncertain significance 1024624 GRCh37: 2:113820137-113820137
GRCh38: 2:113062560-113062560
35 IL36RN NM_012275.3(IL36RN):c.29+6T>C SNV Uncertain significance 1024914 GRCh37: 2:113817050-113817050
GRCh38: 2:113059473-113059473
36 IL36RN NM_012275.3(IL36RN):c.302A>T (p.Tyr101Phe) SNV Uncertain significance 1025575 GRCh37: 2:113820088-113820088
GRCh38: 2:113062511-113062511
37 IL36RN NM_173170.1(IL36RN):c.*1540G>A SNV Uncertain significance 330803 rs886054770 GRCh37: 2:113821794-113821794
GRCh38: 2:113064217-113064217
38 IL36RN NM_173170.1(IL36RN):c.-27-318G>A SNV Uncertain significance 369307 rs759570472 GRCh37: 2:113816671-113816671
GRCh38: 2:113059094-113059094
39 IL36RN NM_173170.1(IL36RN):c.*1844A>G SNV Uncertain significance 330809 rs776033400 GRCh37: 2:113822098-113822098
GRCh38: 2:113064521-113064521
40 IL36RN NM_173170.1(IL36RN):c.142C>T (p.Arg48Trp) SNV Uncertain significance 30491 rs151325121 GRCh37: 2:113819727-113819727
GRCh38: 2:113062150-113062150
41 IL36RN NM_173170.1(IL36RN):c.28C>T (p.Arg10Ter) SNV Uncertain significance 40007 rs397514630 GRCh37: 2:113817043-113817043
GRCh38: 2:113059466-113059466
42 IL36RN NM_173170.1(IL36RN):c.104A>G (p.Lys35Arg) SNV Uncertain significance 160373 rs187015338 GRCh37: 2:113818503-113818503
GRCh38: 2:113060926-113060926
43 IL36RN NM_173170.1(IL36RN):c.248T>A (p.Val83Glu) SNV Uncertain significance 330779 rs886054767 GRCh37: 2:113820034-113820034
GRCh38: 2:113062457-113062457
44 IL36RN NM_173170.1(IL36RN):c.-27-299G>C SNV Uncertain significance 330776 rs552166255 GRCh37: 2:113816690-113816690
GRCh38: 2:113059113-113059113
45 IL36RN NM_173170.1(IL36RN):c.*857A>G SNV Uncertain significance 330795 rs886054768 GRCh37: 2:113821111-113821111
GRCh38: 2:113063534-113063534
46 IL36RN NM_173170.1(IL36RN):c.*1258C>A SNV Uncertain significance 330801 rs147788845 GRCh37: 2:113821512-113821512
GRCh38: 2:113063935-113063935
47 IL36RN NM_173170.1(IL36RN):c.*1585A>G SNV Uncertain significance 330804 rs886054771 GRCh37: 2:113821839-113821839
GRCh38: 2:113064262-113064262
48 IL36RN NM_173170.1(IL36RN):c.*6C>T SNV Uncertain significance 330781 rs189986394 GRCh37: 2:113820260-113820260
GRCh38: 2:113062683-113062683
49 IL36RN NM_173170.1(IL36RN):c.*1995T>C SNV Uncertain significance 330816 rs28938782 GRCh37: 2:113822249-113822249
GRCh38: 2:113064672-113064672
50 IL36RN NM_173170.1(IL36RN):c.*1849T>A SNV Uncertain significance 330810 rs554682838 GRCh37: 2:113822103-113822103
GRCh38: 2:113064526-113064526

UniProtKB/Swiss-Prot genetic disease variations for Psoriasis 14, Pustular:

72
# Symbol AA change Variation ID SNP ID
1 IL36RN p.Leu27Pro VAR_066646 rs387906914
2 IL36RN p.Arg48Trp VAR_066647 rs151325121
3 IL36RN p.Ser113Leu VAR_066648 rs144478519
4 IL36RN p.Thr123Arg VAR_068972 rs397514629

Expression for Psoriasis 14, Pustular

Search GEO for disease gene expression data for Psoriasis 14, Pustular.

Pathways for Psoriasis 14, Pustular

Pathways related to Psoriasis 14, Pustular according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 TNF IL36RN IL1RL2 IL1RAP

GO Terms for Psoriasis 14, Pustular

Biological processes related to Psoriasis 14, Pustular according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.85 ZNF683 PSTPIP1 IL36RN IL1RL2 IL1RAP IL17A
2 immune response GO:0006955 9.81 TNF IL36RN IL1RAP IL17A
3 innate immune response GO:0045087 9.8 ZNF683 PSTPIP1 IL36RN IL1RL2 IL1RAP IL17A
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 TNF IL1RAP CARD14
5 cytokine-mediated signaling pathway GO:0019221 9.65 TNF IL36RN IL1RL2 IL1RAP IL17A
6 regulation of inflammatory response GO:0050727 9.61 TNIP1 TNF IL1RL2
7 defense response to Gram-negative bacterium GO:0050829 9.58 LCE3C LCE3B IL17A
8 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.48 TNF IL17A
9 positive regulation of osteoclast differentiation GO:0045672 9.46 TNF IL17A
10 defense response to Gram-positive bacterium GO:0050830 9.46 TNF LCE3C LCE3B IL17A
11 positive regulation of interleukin-6 production GO:0032755 9.26 TNF IL1RL2 IL1RAP IL17A
12 inflammatory response GO:0006954 9.17 TNIP1 TNF PSTPIP1 IL36RN IL1RL2 IL1RAP

Molecular functions related to Psoriasis 14, Pustular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 9.26 IL1RL2 IL1RAP
2 NAD(P)+ nucleosidase activity GO:0050135 9.16 IL1RL2 IL1RAP
3 interleukin-1 receptor binding GO:0005149 8.96 IL36RN IL1RAP
4 interleukin-1 receptor activity GO:0004908 8.62 IL1RL2 IL1RAP

Sources for Psoriasis 14, Pustular

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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