PSORS14
MCID: PSR021
MIFTS: 47

Psoriasis 14, Pustular (PSORS14)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases, Skin 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 psoriasis. An important gene associated with Psoriasis 14, Pustular is IL36RN (Interleukin 36 Receptor Antagonist). The drugs Apremilast and Analgesics 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:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 pustulosis palmaris et plantaris 31.6 AP1S3 IL36RN
2 psoriasis 30.0 AP1S3 IL36RN
3 pustular psoriasis 29.9 AP1S3 IL36RN
4 pustulosis of palm and sole 29.7 AP1S3 IL36RN
5 acrodermatitis 29.6 AP1S3 IL36RN
6 psoriasis 1 11.5
7 impetigo herpetiformis 11.0
8 bone inflammation disease 10.6
9 arthritis 10.4
10 psoriatic arthritis 10.3
11 acute generalized exanthematous pustulosis 10.3
12 hyperostosis 10.3
13 acute respiratory distress syndrome 10.3
14 chromosome 2q35 duplication syndrome 10.3
15 celiac disease 1 10.3
16 myelodysplastic syndrome 10.3
17 bone resorption disease 10.3
18 cheilitis 10.3
19 pompholyx 10.2
20 psoriasis 2 10.2
21 psoriasis 7 10.2
22 psoriasis 11 10.2
23 psoriasis 13 10.2
24 hypoparathyroidism 10.2
25 impetigo 10.2
26 spondyloarthropathy 1 10.2
27 crohn's colitis 10.2
28 spondylitis 10.2
29 gastroenteritis 10.1
30 capillary leak syndrome 10.1
31 turner syndrome 10.1
32 bullous pemphigoid 10.1
33 viral infectious disease 10.1
34 cholangitis 10.1
35 acquired hemophilia 10.1
36 systemic capillary leak syndrome 10.1
37 dermatitis 10.0
38 autoimmune disease 10.0
39 behcet syndrome 10.0
40 pemphigus vulgaris, familial 10.0
41 adult t-cell leukemia 10.0
42 glomerulonephritis 10.0
43 hematopoietic stem cell transplantation 10.0
44 pemphigus vulgaris 10.0
45 lymphoma 10.0
46 tonsillitis 10.0
47 streptococcal meningitis 10.0
48 sapho syndrome 10.0
49 relapsing polychondritis 10.0
50 synovitis 10.0

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 epidermal acanthosis 32 HP:0025092
9 psoriasiform dermatitis 32 HP:0003765
10 cholangitis 32 occasional (7.5%) HP:0030151
11 geographic tongue 32 occasional (7.5%) HP:0025252
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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
2 Analgesics Phase 4,Phase 3
3 Peripheral Nervous System Agents Phase 4,Phase 3
4 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
5 Immunologic Factors Phase 4,Phase 3,Phase 2
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
7 Anti-Infective Agents Phase 4
8 Anti-Inflammatory Agents Phase 4,Phase 3
9 Analgesics, Non-Narcotic Phase 4,Phase 3
10 Antirheumatic Agents Phase 4,Phase 3,Phase 2
11 Angiogenesis Inhibitors Phase 4
12 Anti-Bacterial Agents Phase 4
13 Angiogenesis Modulating Agents Phase 4
14
Etanercept Approved, Investigational Phase 3 185243-69-0
15 tannic acid Approved Phase 3,Phase 2
16
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
17
Adalimumab Approved Phase 3 331731-18-1 16219006
18
Certolizumab pegol Approved Phase 2, Phase 3 428863-50-7
19
Infliximab Approved Phase 3 170277-31-3
20
Ustekinumab Approved, Investigational Phase 3 815610-63-0
21 Gastrointestinal Agents Phase 3
22 Antibodies Phase 3,Phase 2
23 Immunoglobulins Phase 3,Phase 2
24 Antibodies, Monoclonal Phase 3,Phase 2
25 Pharmaceutical Solutions Phase 2, Phase 3
26 Dermatologic Agents Phase 3,Phase 2
27
Alitretinoin Approved, Investigational Phase 2 5300-03-8 449171 444795
28
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
29 Keratolytic Agents Phase 2
30 Vaccines Phase 2
31 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Apremilast in Palmo-Plantar Psoriasis Completed NCT02400749 Phase 4 Apremilast;Placebo
2 A Placebo-Controlled Double-Blind Study on the Safety and Efficacy of Etanercept in Palmoplantar Pustulosis Completed NCT00353119 Phase 3 Placebo comparator;Etanercept
3 An Efficacy and Safety of Guselkumab in Participants With Palmoplantar Pustulosis Completed NCT02641730 Phase 3 Guselkumab;Placebo
4 Study to Investigate Efficacy and Safety of Adalimumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP) Completed NCT02533375 Phase 3 Adalimumab
5 Study to Assess the Efficacy, Safety and Tolerability of Secukinumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP) Completed NCT01952015 Phase 3
6 An Efficacy and Safety Study of CNTO1959 (Guselkumab) in the Treatment of Participants With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Completed NCT02343744 Phase 3 Guselkumab
7 Palmoplantar Pustular Psoriasis Efficacy and Safety With Secukinumab Completed NCT02008890 Phase 3
8 A Study to Test the Efficacy and Safety of Certolizumab Pegol in Japanese Subjects With Moderate to Severe Chronic Psoriasis Completed NCT03051217 Phase 2, Phase 3 Certolizumab Pegol
9 Safety and Efficacy of Infliximab in Palmoplantar Psoriasis Completed NCT00629772 Phase 3 Placebo;Infliximab
10 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
11 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)
12 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
13 Initial Dosing of BI 655130 in Palmoplantar Pustulosis Patients Completed NCT03135548 Phase 2 BI 655130 (low dose);Placebo;BI 655130 (high dose)
14 Efficacy of Alitretinoin Treatment in Patients With Pustular Form of Psoriasis Completed NCT01245140 Phase 2 alitretinoin;Placebo
15 A Study to Evaluate the Efficacy and Safety of ANB019 in Subjects With Palmoplantar Pustulosis Recruiting NCT03633396 Phase 2 Placebo
16 A Study to Evaluate the Efficacy and Safety of ANB019 in Subjects With Generalized Pustular Psoriasis Recruiting NCT03619902 Phase 2 ANB019
17 Anakinra for Inflammatory Pustular Skin Diseases Recruiting NCT01794117 Phase 2 Anakinra
18 A Study to Test BI 655130 in Patients With a Flare-up of a Skin Disease Called Generalized Pustular Psoriasis Not yet recruiting NCT03782792 Phase 2 BI 655130;Placebo
19 Efficacy Study of TEPSO® Socks in Improving Palmoplantar Pustulosis Terminated NCT01197989 Phase 2
20 BI655130 Single Dose in Generalized Pustular Psoriasis Completed NCT02978690 Phase 1 BI655130
21 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, Thyroid, T Cells, Tonsil

Publications for Psoriasis 14, Pustular

Articles related to Psoriasis 14, Pustular:

(show top 50) (show all 311)
# 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
Investigation of Psoriasis Susceptibility Loci in Psoriatic Arthritis and a Generalized Pustular Psoriasis Cohort. ( 30471759 )
2018
18
Generalized pustular psoriasis complicated with bullous pemphigoid. ( 30516289 )
2018
19
Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation. ( 30430544 )
2018
20
Gastrointestinal bleeding with severe mucosal involvement in a patient with generalized pustular psoriasis without IL36RN mutation. ( 30474867 )
2018
21
Secukinumab in Generalized Pustular Psoriasis. ( 30505796 )
2018
22
Adalimumab treatment in Japanese patients with generalized pustular psoriasis: Results of an open-label phase 3 study. ( 30302793 )
2018
23
Long-term efficacy and safety of ixekizumab in Japanese patients with erythrodermic or generalized pustular psoriasis: subgroup analyses of an open-label, phase 3 study (UNCOVER-J). ( 30317671 )
2018
24
Variants of CARD14 are predisposing factors for generalized pustular psoriasis (GPP) with psoriasis vulgaris but not for GPP alone in a Chinese population. ( 30387497 )
2018
25
Japanese guidelines for the management and treatment of generalized pustular psoriasis: The new pathogenesis and treatment of GPP. ( 30230572 )
2018
26
Successful treatment of refractory juvenile generalized pustular psoriasis with secukinumab monotherapy: A case report and review of published work. ( 30230584 )
2018
27
Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China: A case-control study. ( 30075588 )
2018
28
Generalized pustular psoriasis as an unusual cause of acquired haemophilia A. ( 30105997 )
2018
29
Terbinafine-induced generalized pustular psoriasis in a patient carrying CARD14 mutation. ( 30144153 )
2018
30
A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. ( 27802907 )
2017
31
Generalized pustular psoriasis in a 92-year-old man with a homozygous nonsense mutation in IL36RN. ( 29215143 )
2017
32
Case of generalized pustular psoriasis presenting with both pleural effusion and pericardial effusion collection. ( 28636215 )
2017
33
Psoriasis verrucosa complicated by generalized pustular psoriasis. ( 29235672 )
2017
34
Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation. ( 28295164 )
2017
35
Generalized Pustular Psoriasis. ( 28629688 )
2017
36
Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia. ( 28194751 )
2017
37
Generalized pustular psoriasis treated with apremilast in a patient with multiple medical comorbidities. ( 29034298 )
2017
38
Successful Secukinumab treatment of generalized pustular psoriasis and erythrodermic psoriasis. ( 28319281 )
2017
39
Unopposed IL-36 activity promotes clonal CD4<sup>+</sup>T-cell responses with IL-17A production in generalized pustular psoriasis. ( 29288651 )
2017
40
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
41
Acquired hemophilia A following generalized pustular psoriasis of pregnancy. ( 28771773 )
2017
42
Generalized pustular psoriasis: A possible association with severe hypocalcaemia due to primary hypoparathyroidism. ( 28106254 )
2017
43
Clinical features of von Zumbusch type of generalized pustular psoriasis in children: a retrospective study of 26 patients in southwestern China. ( 29186241 )
2017
44
Interleukin-17 blockade in generalized pustular psoriasis - new hope for severely ill patients. ( 28300318 )
2017
45
Recalcitrant infantile generalized pustular psoriasis successfully treated with acitretin and narrowband ultraviolet B. ( 28106270 )
2017
46
Generalized Pustular Psoriasis Associated with Shock. ( 26976288 )
2016
47
Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy. ( 26870904 )
2016
48
A Case of Acrodermatitis Continua Accompanying with Osteolysis and Atrophy of the Distal Phalanx That Evoluted into Generalized Pustular Psoriasis. ( 27904292 )
2016
49
Generalized pustular psoriasis induced by systemic steroid dose reduction. ( 27828647 )
2016
50
Efficacy and safety of brodalumab in patients with generalized pustular psoriasis and psoriatic erythroderma: results from a 52-week, open-label study. ( 27106510 )
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 121)
# 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_012275.2(IL36RN): c.338C> T (p.Ser113Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144478519 GRCh37 Chromosome 2, 113820124: 113820124
4 IL36RN NM_012275.2(IL36RN): c.338C> T (p.Ser113Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144478519 GRCh38 Chromosome 2, 113062547: 113062547
5 IL36RN NM_173170.1(IL36RN): c.142C> T (p.Arg48Trp) single nucleotide variant Pathogenic rs151325121 GRCh37 Chromosome 2, 113819727: 113819727
6 IL36RN NM_173170.1(IL36RN): c.142C> T (p.Arg48Trp) single nucleotide variant Pathogenic rs151325121 GRCh38 Chromosome 2, 113062150: 113062150
7 IL36RN NM_012275.2(IL36RN): c.115+6T> C single nucleotide variant Pathogenic rs148755083 GRCh38 Chromosome 2, 113060943: 113060943
8 IL36RN NM_012275.2(IL36RN): c.115+6T> C single nucleotide variant Pathogenic rs148755083 GRCh37 Chromosome 2, 113818520: 113818520
9 IL36RN NM_012275.2(IL36RN): c.368C> G (p.Thr123Arg) single nucleotide variant Pathogenic rs397514629 GRCh37 Chromosome 2, 113820154: 113820154
10 IL36RN NM_012275.2(IL36RN): c.368C> G (p.Thr123Arg) single nucleotide variant Pathogenic rs397514629 GRCh38 Chromosome 2, 113062577: 113062577
11 IL36RN NM_012275.2(IL36RN): c.28C> T (p.Arg10Ter) single nucleotide variant Uncertain significance rs397514630 GRCh37 Chromosome 2, 113817043: 113817043
12 IL36RN NM_012275.2(IL36RN): c.28C> T (p.Arg10Ter) single nucleotide variant Uncertain significance rs397514630 GRCh38 Chromosome 2, 113059466: 113059466
13 IL36RN NM_012275.2(IL36RN): c.333C> T (p.Phe111=) single nucleotide variant Uncertain significance rs199824136 GRCh37 Chromosome 2, 113820119: 113820119
14 IL36RN NM_012275.2(IL36RN): c.333C> T (p.Phe111=) single nucleotide variant Uncertain significance rs199824136 GRCh38 Chromosome 2, 113062542: 113062542
15 IL36RN NM_012275.2(IL36RN): c.333C> T (p.Phe111=) single nucleotide variant Uncertain significance rs199824136 NCBI36 Chromosome 2, 113536590: 113536590
16 IL36RN NM_012275.2(IL36RN): c.104A> G (p.Lys35Arg) single nucleotide variant Pathogenic rs187015338 GRCh38 Chromosome 2, 113060926: 113060926
17 IL36RN NM_012275.2(IL36RN): c.104A> G (p.Lys35Arg) single nucleotide variant Pathogenic rs187015338 GRCh37 Chromosome 2, 113818503: 113818503
18 IL36RN NM_012275.2(IL36RN): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs199932303 GRCh38 Chromosome 2, 113062513: 113062513
19 IL36RN NM_012275.2(IL36RN): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs199932303 GRCh37 Chromosome 2, 113820090: 113820090
20 IL36RN NM_012275.2(IL36RN): c.*946T> C single nucleotide variant Benign rs957201 GRCh38 Chromosome 2, 113063623: 113063623
21 IL36RN NM_012275.2(IL36RN): c.*946T> C single nucleotide variant Benign rs957201 GRCh37 Chromosome 2, 113821200: 113821200
22 IL36RN NM_012275.2(IL36RN): c.*1399T> C single nucleotide variant Benign rs768627 GRCh38 Chromosome 2, 113064076: 113064076
23 IL36RN NM_012275.2(IL36RN): c.*1399T> C single nucleotide variant Benign rs768627 GRCh37 Chromosome 2, 113821653: 113821653
24 IL36RN NM_012275.2(IL36RN): c.*1660G> A single nucleotide variant Uncertain significance rs74502334 GRCh38 Chromosome 2, 113064337: 113064337
25 IL36RN NM_012275.2(IL36RN): c.*1660G> A single nucleotide variant Uncertain significance rs74502334 GRCh37 Chromosome 2, 113821914: 113821914
26 IL36RN NM_012275.2(IL36RN): c.*1844A> G single nucleotide variant Uncertain significance rs776033400 GRCh38 Chromosome 2, 113064521: 113064521
27 IL36RN NM_012275.2(IL36RN): c.*1844A> G single nucleotide variant Uncertain significance rs776033400 GRCh37 Chromosome 2, 113822098: 113822098
28 IL36RN NM_012275.2(IL36RN): c.*1881G> T single nucleotide variant Likely benign rs996878 GRCh38 Chromosome 2, 113064558: 113064558
29 IL36RN NM_012275.2(IL36RN): c.*1881G> T single nucleotide variant Likely benign rs996878 GRCh37 Chromosome 2, 113822135: 113822135
30 IL36RN NM_012275.2(IL36RN): c.*1942C> G single nucleotide variant Uncertain significance rs886054772 GRCh38 Chromosome 2, 113064619: 113064619
31 IL36RN NM_012275.2(IL36RN): c.*1942C> G single nucleotide variant Uncertain significance rs886054772 GRCh37 Chromosome 2, 113822196: 113822196
32 IL36RN NM_012275.2(IL36RN): c.-156G> C single nucleotide variant Uncertain significance rs552166255 GRCh37 Chromosome 2, 113816690: 113816690
33 IL36RN NM_012275.2(IL36RN): c.-156G> C single nucleotide variant Uncertain significance rs552166255 GRCh38 Chromosome 2, 113059113: 113059113
34 IL36RN NM_012275.2(IL36RN): c.248T> A (p.Val83Glu) single nucleotide variant Uncertain significance rs886054767 GRCh37 Chromosome 2, 113820034: 113820034
35 IL36RN NM_012275.2(IL36RN): c.248T> A (p.Val83Glu) single nucleotide variant Uncertain significance rs886054767 GRCh38 Chromosome 2, 113062457: 113062457
36 IL36RN NM_012275.2(IL36RN): c.*308T> G single nucleotide variant Uncertain significance rs114200724 GRCh38 Chromosome 2, 113062985: 113062985
37 IL36RN NM_012275.2(IL36RN): c.*308T> G single nucleotide variant Uncertain significance rs114200724 GRCh37 Chromosome 2, 113820562: 113820562
38 IL36RN NM_012275.2(IL36RN): c.*401A> T single nucleotide variant Benign rs3180234 GRCh38 Chromosome 2, 113063078: 113063078
39 IL36RN NM_012275.2(IL36RN): c.*401A> T single nucleotide variant Benign rs3180234 GRCh37 Chromosome 2, 113820655: 113820655
40 IL36RN NM_012275.2(IL36RN): c.*478T> C single nucleotide variant Benign rs2515403 GRCh38 Chromosome 2, 113063155: 113063155
41 IL36RN NM_012275.2(IL36RN): c.*478T> C single nucleotide variant Benign rs2515403 GRCh37 Chromosome 2, 113820732: 113820732
42 IL36RN NM_012275.2(IL36RN): c.*935G> C single nucleotide variant Likely benign rs11675540 GRCh38 Chromosome 2, 113063612: 113063612
43 IL36RN NM_012275.2(IL36RN): c.*935G> C single nucleotide variant Likely benign rs11675540 GRCh37 Chromosome 2, 113821189: 113821189
44 IL36RN NM_012275.2(IL36RN): c.*1051T> C single nucleotide variant Uncertain significance rs886054769 GRCh38 Chromosome 2, 113063728: 113063728
45 IL36RN NM_012275.2(IL36RN): c.*1051T> C single nucleotide variant Uncertain significance rs886054769 GRCh37 Chromosome 2, 113821305: 113821305
46 IL36RN NM_012275.2(IL36RN): c.*1082C> A single nucleotide variant Likely benign rs957200 GRCh38 Chromosome 2, 113063759: 113063759
47 IL36RN NM_012275.2(IL36RN): c.*1082C> A single nucleotide variant Likely benign rs957200 GRCh37 Chromosome 2, 113821336: 113821336
48 IL36RN NM_012275.2(IL36RN): c.*1258C> A single nucleotide variant Uncertain significance rs147788845 GRCh38 Chromosome 2, 113063935: 113063935
49 IL36RN NM_012275.2(IL36RN): c.*1258C> A single nucleotide variant Uncertain significance rs147788845 GRCh37 Chromosome 2, 113821512: 113821512
50 IL36RN NM_012275.2(IL36RN): c.*1987G> A single nucleotide variant Likely benign rs996879 GRCh38 Chromosome 2, 113064664: 113064664

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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