MCID: PSR021
MIFTS: 44

Psoriasis 14, Pustular

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

Aliases & Classifications for Psoriasis 14, Pustular

MalaCards integrated aliases for Psoriasis 14, Pustular:

Name: Psoriasis 14, Pustular 57 53 75
Generalized Pustular Psoriasis 57 53 25 59 75 73
Gpp 57 53 25 59 75
Ditra 57 25 59 75
Acrodermatitis Continua of Hallopeau 57 59 75
Interleukin 36 Receptor Antagonist Deficiency 57 75
Pustular Psoriasis, Generalized 29 6
Palmoplantar Pustulosis 57 75
Psors14 57 75
Psorp 57 75
Interleukin 36 Receptor Antagonist Deficiency; Ditra 57
Deficiency of the Interleukin-36 Receptor Antagonist 25
Generalized Pustular Psoriasis of Von Zumbusch 25
Acute Generalised Pustular Psoriasis 25
Acute Generalized Pustular Psoriasis 73
Generalized Pustular Psoriasis; Gpp 57
Interleukin 36 Receptor Antagonist 13
Psoriasis, Pustular, Generalized 40
Deficiency of Il-36r Antagonist 59
Psoriasis, Generalized Pustular 13
Pustulosis of Palms and Soles 73
Von Zumbusch Psoriasis 25
Deficiency of Il-36ra 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
psoriasis 14, pustular:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Psoriasis 14, Pustular

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)

MalaCards based summary : Psoriasis 14, Pustular, also known as generalized pustular psoriasis, is related to pustulosis palmaris et plantaris and pustular psoriasis. An important gene associated with Psoriasis 14, Pustular is IL36RN (Interleukin 36 Receptor Antagonist). The drugs Etanercept and Adalimumab have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and monocytes, and related phenotypes are fever and parakeratosis

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 pustulosis palmaris et plantaris 30.7 AP1S3 IL36RN
2 pustular psoriasis 29.1 AP1S3 IL36RN
3 acrodermatitis 28.8 AP1S3 IL36RN
4 psoriasis 28.5 AP1S3 IL36RN
5 psoriasis 1 11.4
6 aging 9.9
7 pustulosis of palm and sole 9.9

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



Diseases related to Psoriasis 14, Pustular

Symptoms & Phenotypes for Psoriasis 14, Pustular

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Psoriasis 14, Pustular:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 parakeratosis 32 HP:0001036
3 nail dystrophy 32 occasional (7.5%) HP:0008404
4 erythema 32 HP:0010783
5 nail dysplasia 32 occasional (7.5%) HP:0002164
6 furrowed tongue 32 occasional (7.5%) HP:0000221
7 pustule 32 HP:0200039
8 psoriasiform dermatitis 32 HP:0003765
9 cholangitis 32 occasional (7.5%) HP:0030151
10 geographic tongue 32 occasional (7.5%) HP:0025252
11 epidermal acanthosis 32 HP:0025092
12 oligoarthritis 32 occasional (7.5%) HP:0040313

Drugs & Therapeutics for Psoriasis 14, Pustular

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etanercept Approved, Investigational Phase 3 185243-69-0
2
Adalimumab Approved Phase 3 331731-18-1 16219006
3
Menthol Approved Phase 3 2216-51-5 16666
4
Infliximab Approved Phase 3 170277-31-3
5
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
6
Certolizumab pegol Approved Phase 2, Phase 3 428863-50-7
7
Ustekinumab Approved, Investigational Phase 3 815610-63-0
8 tannic acid Approved, Nutraceutical Phase 3,Phase 2
9 Analgesics Phase 3
10 Analgesics, Non-Narcotic Phase 3
11 Anti-Inflammatory Agents Phase 3
12 Anti-Inflammatory Agents, Non-Steroidal Phase 3
13 Antirheumatic Agents Phase 3,Phase 2
14 Gastrointestinal Agents Phase 3
15 Immunosuppressive Agents Phase 3,Phase 2
16 Peripheral Nervous System Agents Phase 3
17 Antibodies Phase 3,Phase 2
18 Antibodies, Monoclonal Phase 3,Phase 2
19 Immunoglobulins Phase 3,Phase 2
20 Dermatologic Agents Phase 3,Phase 2
21 Pharmaceutical Solutions Phase 2, Phase 3
22
Alitretinoin Approved, Investigational Phase 2 5300-03-8 444795 449171
23
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
24 Keratolytic Agents Phase 2
25 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Placebo-Controlled Double-Blind Study on the Safety and Efficacy of Etanercept in Palmoplantar Pustulosis Completed NCT00353119 Phase 3 Placebo comparator;Etanercept
2 Study to Investigate Efficacy and Safety of Adalimumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP) Completed NCT02533375 Phase 3 Adalimumab
3 Study to Assess the Efficacy, Safety and Tolerability of Secukinumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP) Completed NCT01952015 Phase 3
4 Palmoplantar Pustular Psoriasis Efficacy and Safety wIth Secukinumab Completed NCT02008890 Phase 3 Placebo
5 Safety and Efficacy of Infliximab in Palmoplantar Psoriasis Completed NCT00629772 Phase 3 Placebo;Infliximab
6 An Efficacy and Safety of Guselkumab in Participants With Palmoplantar Pustulosis Active, not recruiting NCT02641730 Phase 3 Guselkumab;Placebo
7 A 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 Active, not recruiting NCT03022045 Phase 3 risankizumab
8 An Efficacy and Safety Study of CNTO1959 (Guselkumab) in the Treatment of Participants With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Active, not recruiting NCT02343744 Phase 3 Guselkumab
9 A Study to Test the Efficacy and Safety of Certolizumab Pegol in Japanese Subjects With Moderate to Severe Chronic Psoriasis Active, not recruiting NCT03051217 Phase 2, Phase 3 Certolizumab Pegol
10 Safety and Efficacy of Ustekinumab in Patients With Palmo-Plantar Pustular Psoriasis or With Palmo-Plantar Pustulosis Terminated NCT01091051 Phase 3 Ustekinumab;Placebo (Soduim Chloride)
11 A Study of the Efficacy, Safety and Tolerability of CNTO 1959, a Human Anti-IL 23 Monoclonal Antibody in Participants With Palmoplantar Pustulosis Completed NCT01845987 Phase 2 Placebo;CNTO 1959
12 Efficacy of Alitretinoin Treatment in Patients With Pustular Form of Psoriasis Completed NCT01245140 Phase 2 alitretinoin;Placebo
13 Anakinra for Inflammatory Pustular Skin Diseases Recruiting NCT01794117 Phase 2 Anakinra
14 Initial Dosing of BI 655130 in Palmoplantar Pustulosis Patients Active, not recruiting NCT03135548 Phase 2 BI 655130 (low dose);Placebo;BI 655130 (high dose)
15 Efficacy Study of TEPSO® Socks in Improving Palmoplantar Pustulosis Terminated NCT01197989 Phase 2
16 BI655130 Single Dose in Generalized Pustular Psoriasis Completed NCT02978690 Phase 1 BI655130
17 Immune Signature of Palmoplantar Pustulosis Completed NCT01780857

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:

41
Skin, Tongue, Monocytes, Bone, Testes, Neutrophil, Endothelial

Publications for Psoriasis 14, Pustular

Articles related to Psoriasis 14, Pustular:

(show top 50) (show all 292)
# Title Authors Year
1
RNA sequencing-based longitudinal transcriptomic profiling gives novel insights into the disease mechanism of generalized pustular psoriasis. ( 29871627 )
2018
2
An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency. ( 29454537 )
2018
3
Pediatric case of generalized pustular psoriasis developing acute pancreatitis. ( 29655246 )
2018
4
Genetic background and therapeutic response in generalized pustular psoriasis patients treated with granulocyte and monocyte adsorption apheresis. ( 29380726 )
2018
5
Systemic Monotherapy Treatments for Generalized Pustular Psoriasis: A Systematic Review. ( 29707979 )
2018
6
Generalized pustular psoriasis: a review and update on treatment. ( 29573491 )
2018
7
Generalized Pustular Psoriasis ( 29630241 )
2018
8
Guselkumab, a human interleukin-23 monoclonal antibody in Japanese patients with generalized pustular psoriasis and erythrodermic psoriasis: Efficacy and safety analyses of a 52-week, phase 3, multicenter, open-label study. ( 29569397 )
2018
9
Case of generalized pustular psoriasis that might have progressed from terbinafine-induced acute generalized exanthematous pustulosis. ( 29766566 )
2018
10
Two cases of generalized pustular psoriasis complicated by IgG4-related disease. ( 29709076 )
2018
11
Generalized Pustular Psoriasis Induced by Infliximab in a Patient With Inflammatory Bowel Disease. ( 29484893 )
2018
12
Generalized pustular psoriasis - A model disease for specific targeted immunotherapy, systematic review. ( 29852521 )
2018
13
Generalized pustular psoriasis triggered by Zika virus infection. ( 29027743 )
2018
14
Association of IL36RN mutations with clinical features, therapeutic response to acitretin, and frequency of recurrence in patients with generalized pustular psoriasis. ( 29619998 )
2018
15
Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations. ( 29655177 )
2018
16
A Case of Ceftriaxone-Induced Acute Generalized Exanthematous Pustulosis/Generalized Pustular Psoriasis Overlap. ( 29681811 )
2018
17
A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. ( 27802907 )
2017
18
Generalized pustular psoriasis in a 92-year-old man with a homozygous nonsense mutation in IL36RN. ( 29215143 )
2017
19
Case of generalized pustular psoriasis presenting with both pleural effusion and pericardial effusion collection. ( 28636215 )
2017
20
Psoriasis verrucosa complicated by generalized pustular psoriasis. ( 29235672 )
2017
21
Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation. ( 28295164 )
2017
22
Generalized Pustular Psoriasis. ( 28629688 )
2017
23
Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia. ( 28194751 )
2017
24
Generalized pustular psoriasis treated with apremilast in a patient with multiple medical comorbidities. ( 29034298 )
2017
25
Successful Secukinumab treatment of generalized pustular psoriasis and erythrodermic psoriasis. ( 28319281 )
2017
26
Unopposed IL-36 activity promotes clonal CD4<sup>+</sup>T-cell responses with IL-17A production in generalized pustular psoriasis. ( 29288651 )
2017
27
Generalized Pustular Psoriasis With IL-36 Receptor Antagonist Mutation Successfully Treated With Granulocyte and Monocyte Adsorption Apheresis Accompanied by Reduced Serum IL-6 Level. ( 28913961 )
2017
28
Acquired hemophilia A following generalized pustular psoriasis of pregnancy. ( 28771773 )
2017
29
Generalized pustular psoriasis: A possible association with severe hypocalcaemia due to primary hypoparathyroidism. ( 28106254 )
2017
30
Clinical features of von Zumbusch type of generalized pustular psoriasis in children: a retrospective study of 26 patients in southwestern China. ( 29186241 )
2017
31
Interleukin-17 blockade in generalized pustular psoriasis - new hope for severely ill patients. ( 28300318 )
2017
32
Recalcitrant infantile generalized pustular psoriasis successfully treated with acitretin and narrowband ultraviolet B. ( 28106270 )
2017
33
Generalized Pustular Psoriasis Associated with Shock. ( 26976288 )
2016
34
Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy. ( 26870904 )
2016
35
A Case of Acrodermatitis Continua Accompanying with Osteolysis and Atrophy of the Distal Phalanx That Evoluted into Generalized Pustular Psoriasis. ( 27904292 )
2016
36
Generalized pustular psoriasis induced by systemic steroid dose reduction. ( 27828647 )
2016
37
Efficacy and safety of brodalumab in patients with generalized pustular psoriasis and psoriatic erythroderma: results from a 52-week, open-label study. ( 27106510 )
2016
38
Efficacy and safety of secukinumab in patients with generalized pustular psoriasis: A 52-week analysis from phase III open-label multicenter Japanese study. ( 26919410 )
2016
39
Generalized pustular psoriasis treated with ustekinumab. ( 27333948 )
2016
40
Adalimumab administration after infliximab therapy is a successful treatment strategy for generalized pustular psoriasis. ( 27743397 )
2016
41
Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status. ( 27096382 )
2016
42
Two case reports of generalized pustular psoriasis of pregnancy: Different outcomes. ( 27512494 )
2016
43
Secukinumab in the treatment of generalized pustular psoriasis - a case report. ( 27231055 )
2016
44
Biologics and Pediatric Generalized Pustular Psoriasis: An Emerging Therapeutic Trend. ( 27462478 )
2016
45
IL-1 and IL-36 are dominant cytokines in generalized pustular psoriasis. ( 28043870 )
2016
46
Immunohistochemical Comparison of IL-36 and the IL-23/Th17 Axis of Generalized Pustular Psoriasis and Acute Generalized Exanthematous Pustulosis. ( 27489427 )
2016
47
Certolizumab pegol, a pegylated anti-TNF-I+ antagonist, caused de novo-onset palmoplantar pustulosis followed by generalized pustular psoriasis in a patient with rheumatoid arthritis. ( 27599405 )
2016
48
Case of generalized pustular psoriasis exacerbated during pregnancy, successfully treated with infliximab. ( 27130289 )
2016
49
Juvenile generalized pustular psoriasis with IL36RN mutation treated with short-term infliximab. ( 26627198 )
2016
50
Extemporaneous Compounding of Oral Acitretin Suspension for Pediatric Patient with Generalized Pustular Psoriasis. ( 27125051 )
2016

Variations for Psoriasis 14, Pustular

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

75
# 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

ClinVar genetic disease variations for Psoriasis 14, Pustular:

6
(show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL36RN NM_173170.1(IL36RN): c.80T> C (p.Leu27Pro) single nucleotide variant Pathogenic rs387906914 GRCh37 Chromosome 2, 113818479: 113818479
2 IL36RN NM_173170.1(IL36RN): c.80T> C (p.Leu27Pro) single nucleotide variant Pathogenic rs387906914 GRCh38 Chromosome 2, 113060902: 113060902
3 IL36RN NM_173170.1(IL36RN): c.142C> T (p.Arg48Trp) single nucleotide variant Pathogenic rs151325121 GRCh37 Chromosome 2, 113819727: 113819727
4 IL36RN NM_173170.1(IL36RN): c.142C> T (p.Arg48Trp) single nucleotide variant Pathogenic rs151325121 GRCh38 Chromosome 2, 113062150: 113062150
5 IL36RN NM_012275.2(IL36RN): c.115+6T> C single nucleotide variant Pathogenic rs148755083 GRCh38 Chromosome 2, 113060943: 113060943
6 IL36RN NM_012275.2(IL36RN): c.115+6T> C single nucleotide variant Pathogenic rs148755083 GRCh37 Chromosome 2, 113818520: 113818520
7 IL36RN NM_012275.2(IL36RN): c.368C> G (p.Thr123Arg) single nucleotide variant Pathogenic rs397514629 GRCh37 Chromosome 2, 113820154: 113820154
8 IL36RN NM_012275.2(IL36RN): c.368C> G (p.Thr123Arg) single nucleotide variant Pathogenic rs397514629 GRCh38 Chromosome 2, 113062577: 113062577
9 IL36RN NM_012275.2(IL36RN): c.104A> G (p.Lys35Arg) single nucleotide variant Pathogenic rs187015338 GRCh38 Chromosome 2, 113060926: 113060926
10 IL36RN NM_012275.2(IL36RN): c.104A> G (p.Lys35Arg) single nucleotide variant Pathogenic rs187015338 GRCh37 Chromosome 2, 113818503: 113818503
11 IL36RN NM_012275.2(IL36RN): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs199932303 GRCh38 Chromosome 2, 113062513: 113062513
12 IL36RN NM_012275.2(IL36RN): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs199932303 GRCh37 Chromosome 2, 113820090: 113820090
13 IL36RN NM_012275.2(IL36RN): c.*946T> C single nucleotide variant Benign rs957201 GRCh38 Chromosome 2, 113063623: 113063623
14 IL36RN NM_012275.2(IL36RN): c.*946T> C single nucleotide variant Benign rs957201 GRCh37 Chromosome 2, 113821200: 113821200
15 IL36RN NM_012275.2(IL36RN): c.*1399T> C single nucleotide variant Benign rs768627 GRCh38 Chromosome 2, 113064076: 113064076
16 IL36RN NM_012275.2(IL36RN): c.*1399T> C single nucleotide variant Benign rs768627 GRCh37 Chromosome 2, 113821653: 113821653
17 IL36RN NM_012275.2(IL36RN): c.*1660G> A single nucleotide variant Uncertain significance rs74502334 GRCh38 Chromosome 2, 113064337: 113064337
18 IL36RN NM_012275.2(IL36RN): c.*1660G> A single nucleotide variant Uncertain significance rs74502334 GRCh37 Chromosome 2, 113821914: 113821914
19 IL36RN NM_012275.2(IL36RN): c.*1844A> G single nucleotide variant Uncertain significance rs776033400 GRCh38 Chromosome 2, 113064521: 113064521
20 IL36RN NM_012275.2(IL36RN): c.*1844A> G single nucleotide variant Uncertain significance rs776033400 GRCh37 Chromosome 2, 113822098: 113822098
21 IL36RN NM_012275.2(IL36RN): c.*1881G> T single nucleotide variant Likely benign rs996878 GRCh38 Chromosome 2, 113064558: 113064558
22 IL36RN NM_012275.2(IL36RN): c.*1881G> T single nucleotide variant Likely benign rs996878 GRCh37 Chromosome 2, 113822135: 113822135
23 IL36RN NM_012275.2(IL36RN): c.*1942C> G single nucleotide variant Uncertain significance rs886054772 GRCh38 Chromosome 2, 113064619: 113064619
24 IL36RN NM_012275.2(IL36RN): c.*1942C> G single nucleotide variant Uncertain significance rs886054772 GRCh37 Chromosome 2, 113822196: 113822196
25 IL36RN NM_012275.2(IL36RN): c.-156G> C single nucleotide variant Uncertain significance rs552166255 GRCh37 Chromosome 2, 113816690: 113816690
26 IL36RN NM_012275.2(IL36RN): c.-156G> C single nucleotide variant Uncertain significance rs552166255 GRCh38 Chromosome 2, 113059113: 113059113
27 IL36RN NM_012275.2(IL36RN): c.248T> A (p.Val83Glu) single nucleotide variant Uncertain significance rs886054767 GRCh37 Chromosome 2, 113820034: 113820034
28 IL36RN NM_012275.2(IL36RN): c.248T> A (p.Val83Glu) single nucleotide variant Uncertain significance rs886054767 GRCh38 Chromosome 2, 113062457: 113062457
29 IL36RN NM_012275.2(IL36RN): c.*308T> G single nucleotide variant Uncertain significance rs114200724 GRCh38 Chromosome 2, 113062985: 113062985
30 IL36RN NM_012275.2(IL36RN): c.*308T> G single nucleotide variant Uncertain significance rs114200724 GRCh37 Chromosome 2, 113820562: 113820562
31 IL36RN NM_012275.2(IL36RN): c.*401A> T single nucleotide variant Benign rs3180234 GRCh38 Chromosome 2, 113063078: 113063078
32 IL36RN NM_012275.2(IL36RN): c.*401A> T single nucleotide variant Benign rs3180234 GRCh37 Chromosome 2, 113820655: 113820655
33 IL36RN NM_012275.2(IL36RN): c.*478T> C single nucleotide variant Benign rs2515403 GRCh38 Chromosome 2, 113063155: 113063155
34 IL36RN NM_012275.2(IL36RN): c.*478T> C single nucleotide variant Benign rs2515403 GRCh37 Chromosome 2, 113820732: 113820732
35 IL36RN NM_012275.2(IL36RN): c.*935G> C single nucleotide variant Likely benign rs11675540 GRCh38 Chromosome 2, 113063612: 113063612
36 IL36RN NM_012275.2(IL36RN): c.*935G> C single nucleotide variant Likely benign rs11675540 GRCh37 Chromosome 2, 113821189: 113821189
37 IL36RN NM_012275.2(IL36RN): c.*1051T> C single nucleotide variant Uncertain significance rs886054769 GRCh38 Chromosome 2, 113063728: 113063728
38 IL36RN NM_012275.2(IL36RN): c.*1051T> C single nucleotide variant Uncertain significance rs886054769 GRCh37 Chromosome 2, 113821305: 113821305
39 IL36RN NM_012275.2(IL36RN): c.*1082C> A single nucleotide variant Likely benign rs957200 GRCh38 Chromosome 2, 113063759: 113063759
40 IL36RN NM_012275.2(IL36RN): c.*1082C> A single nucleotide variant Likely benign rs957200 GRCh37 Chromosome 2, 113821336: 113821336
41 IL36RN NM_012275.2(IL36RN): c.*1258C> A single nucleotide variant Uncertain significance rs147788845 GRCh38 Chromosome 2, 113063935: 113063935
42 IL36RN NM_012275.2(IL36RN): c.*1258C> A single nucleotide variant Uncertain significance rs147788845 GRCh37 Chromosome 2, 113821512: 113821512
43 IL36RN NM_012275.2(IL36RN): c.*1987G> A single nucleotide variant Likely benign rs996879 GRCh38 Chromosome 2, 113064664: 113064664
44 IL36RN NM_012275.2(IL36RN): c.*1987G> A single nucleotide variant Likely benign rs996879 GRCh37 Chromosome 2, 113822241: 113822241
45 IL36RN NM_012275.2(IL36RN): c.30-14T> A single nucleotide variant Uncertain significance rs886054766 GRCh37 Chromosome 2, 113818415: 113818415
46 IL36RN NM_012275.2(IL36RN): c.30-14T> A single nucleotide variant Uncertain significance rs886054766 GRCh38 Chromosome 2, 113060838: 113060838
47 IL36RN NM_012275.2(IL36RN): c.363G> A (p.Leu121=) single nucleotide variant Conflicting interpretations of pathogenicity rs151274071 GRCh37 Chromosome 2, 113820149: 113820149
48 IL36RN NM_012275.2(IL36RN): c.363G> A (p.Leu121=) single nucleotide variant Conflicting interpretations of pathogenicity rs151274071 GRCh38 Chromosome 2, 113062572: 113062572
49 IL36RN NM_012275.2(IL36RN): c.*222T> C single nucleotide variant Benign rs2515401 GRCh38 Chromosome 2, 113062899: 113062899
50 IL36RN NM_012275.2(IL36RN): c.*222T> C single nucleotide variant Benign rs2515401 GRCh37 Chromosome 2, 113820476: 113820476

Expression for Psoriasis 14, Pustular

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

Pathways for Psoriasis 14, Pustular

GO Terms for Psoriasis 14, Pustular

Sources for Psoriasis 14, Pustular

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