Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
CAPS
MCID: CRY008
MIFTS: 39

Cryopyrin-Associated Periodic Syndrome (CAPS)

Categories: Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Cryopyrin-Associated Periodic Syndrome

About this section

MalaCards integrated aliases for Cryopyrin-Associated Periodic Syndrome:

Name: Cryopyrin-Associated Periodic Syndrome 54
Cryopyrin Associated Periodic Syndrome 38 6
Cryopyrin-Associated Periodic Syndromes 74
Cryopyrinopathy 54
Caps 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 38 H00282
UMLS 74 C2316212
Sources

Summaries for Cryopyrin-Associated Periodic Syndrome

About this section
MalaCards based summary : Cryopyrin-Associated Periodic Syndrome, also known as cryopyrin associated periodic syndrome, is related to cinca syndrome and muckle-wells syndrome. An important gene associated with Cryopyrin-Associated Periodic Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Selenium Micronutrient Network. The drugs Ginseng and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and neutrophil.

Wikipedia : 77 Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease... more...

Sources

Related Diseases for Cryopyrin-Associated Periodic Syndrome

About this section

Diseases related to Cryopyrin-Associated Periodic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 cinca syndrome 33.3 IL1R1 IL1RN NLRP3
2 muckle-wells syndrome 33.0 CRP IL1R1 NLRP3
3 familial cold autoinflammatory syndrome 1 32.8 IL1R1 NLRP3
4 mevalonic aciduria 30.5 IL1RN NLRP3
5 amyloidosis aa 30.3 CRP SAA4
6 brucellosis 30.0 CRP IL1RN IL6
7 wells syndrome 29.9 CRP IL1R1 NLRP3
8 familial mediterranean fever 29.8 CRP IL1RN NLRP3 SAA4
9 exanthem 29.3 CRP IL1RN IL6 NLRP3
10 juvenile rheumatoid arthritis 29.2 CRP IL1R1 IL1RN IL6
11 catastrophic antiphospholipid syndrome 11.5
12 amyloidosis 10.3
13 urticaria 10.2
14 silicosis 10.2 IL1RN NLRP3
15 juvenile ankylosing spondylitis 10.2 IL1RN IL6
16 osteosclerotic myeloma 10.2 IL1RN IL6
17 necrotizing fasciitis 10.2 IL1RN IL6
18 cold urticaria 10.2 IL1R1 NLRP3
19 dengue shock syndrome 10.1 IL1RN IL6
20 idiopathic neutropenia 10.1 IL1RN IL6
21 pneumoconiosis 10.1 IL6 NLRP3
22 conjunctivitis 10.1 IL6 NLRP3
23 neisseria meningitidis infection 10.1 IL1R1 IL1RN
24 aggressive periodontitis 10.1 IL1RN IL6
25 rheumatoid arthritis, systemic juvenile 10.1 IL1R1 IL6
26 osteomyelitis 10.1 IL1RN IL6
27 periodic fever, familial, autosomal dominant 10.1
28 keratoendotheliitis fugax hereditaria 10.1
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
30 arthritis 10.1
31 cardiac arrest 10.1
32 sensorineural hearing loss 10.1
33 optic papillitis 10.1
34 nephrotic syndrome 10.1
35 uveitis 10.1
36 systemic onset juvenile idiopathic arthritis 10.1
37 post-transplant lymphoproliferative disease 10.1 IL1R1 IL6
38 radiculopathy 10.1 IL1R1 IL6
39 chronic meningitis 10.0 CRP NLRP3
40 hyper-igd syndrome 10.0 CRP IL1RN
41 cartilage disease 10.0 CRP IL1RN
42 pericardium disease 10.0 CRP IL1RN
43 orbital cellulitis 10.0 CRP IL1RN
44 cholangitis 10.0 CRP IL6
45 acute orbital inflammation 10.0 CRP IL1RN
46 castleman disease 10.0 CRP IL6
47 unicentric castleman disease 10.0 CRP SAA4
48 cold agglutinin disease 10.0 CRP IL6
49 uremic pruritus 10.0 CRP IL6
50 neutrophilia, hereditary 10.0 CRP IL6

Graphical network of the top 20 diseases related to Cryopyrin-Associated Periodic Syndrome:



Diseases related to Cryopyrin-Associated Periodic Syndrome
Sources

Symptoms & Phenotypes for Cryopyrin-Associated Periodic Syndrome

About this section
Sources

Drugs & Therapeutics for Cryopyrin-Associated Periodic Syndrome

About this section

Drugs for Cryopyrin-Associated Periodic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
2
Rilonacept Approved, Investigational Phase 3,Phase 2 501081-76-1 104924
3 Cinnamon Approved Phase 2, Phase 3
4
Calcium polycarbophil Approved Phase 2, Phase 3 126040-58-2
5 Antibodies, Monoclonal Phase 3,Phase 2
6 Immunoglobulins Phase 3,Phase 2
7 Antibodies Phase 3,Phase 2
8 Immunologic Factors Phase 3,Phase 2
9 Vaccines Phase 3
10 Anti-Inflammatory Agents Phase 3,Phase 2
11 Psyllium Phase 2, Phase 3
12 Mitogens Phase 2, Phase 3
13 Juzentaihoto Phase 2, Phase 3
14 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
15 Antirheumatic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Completed NCT02645916 Phase 4 Danggui-Sayuk-Ga-Osuyu-Saenggang-tang;Placebo: corn starch
2 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
3 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
4 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
5 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
6 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
7 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
8 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
9 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
10 RHAPSODY Phase 3 Study to Assess the Efficacy and Safety of Rilonacept Treatment in Subjects With Recurrent Pericarditis Recruiting NCT03737110 Phase 3 Rilonacept;Placebo
11 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet (UCHA) Recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
12 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Recruiting NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;Placebo
13 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
14 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
15 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
16 Efficacy and Safety of Canakinumab in Schnitzler Syndrome Completed NCT01276522 Phase 2 Canakinumab
17 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
18 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
19 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
20 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
21 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
22 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
23 Phenomics in Autoimmune and Inflammatory Diseases Recruiting NCT02466217
24 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT00059748
25 Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT02974595
26 Kineret CAPS Post Authorisation Study Active, not recruiting NCT02326376 anakinra (Kineret)

Search NIH Clinical Center for Cryopyrin-Associated Periodic Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :
Sources

Genetic Tests for Cryopyrin-Associated Periodic Syndrome

About this section
Sources

Anatomical Context for Cryopyrin-Associated Periodic Syndrome

About this section

MalaCards organs/tissues related to Cryopyrin-Associated Periodic Syndrome:

42
Skin, Eye, Neutrophil, Myeloid, Monocytes, Kidney
Sources

Publications for Cryopyrin-Associated Periodic Syndrome

About this section

Articles related to Cryopyrin-Associated Periodic Syndrome:

(show top 50) (show all 78)
# Title Authors Year
1
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review. ( 30772614 )
2019
2
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. ( 29366613 )
2018
3
Flare of a Cryopyrin-associated Periodic Syndrome Following Vaccination with Neisseria Meningitidis Polysaccharides. ( 29858461 )
2018
4
Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study. ( 29678136 )
2018
5
Cryopyrin-associated periodic syndrome in early childhood can be successfully treated with interleukin-1 blockades. ( 29331074 )
2018
6
Erythema nodosum in an adolescent patient with cryopyrin-associated periodic syndrome. ( 29988644 )
2018
7
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME-ASSOCIATED UVEITIS AND PAPILLITIS. ( 30134363 )
2018
8
Cryopyrin-associated periodic syndrome (CAPS) in a patient with NLRP3 T348M mutation. ( 30184330 )
2018
9
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome. ( 30385706 )
2018
10
A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. ( 30568124 )
2018
11
[Genetics of cryopyrin-associated periodic syndrome]. ( 28197772 )
2017
12
Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS). ( 28196516 )
2017
13
Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS). ( 29285715 )
2017
14
An Adult Patient With a Novel Mutation in NLRP3 Gene Associated With Cryopyrin-Associated Periodic Syndrome Mimicking Adult-Onset Still Disease. ( 29239927 )
2017
15
Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy. ( 29152264 )
2017
16
Early-onset urticaria: a marker of cryopyrin-associated periodic syndrome. ( 28512856 )
2017
17
Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). ( 27707729 )
2016
18
Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome. ( 26667214 )
2016
19
Chorea in a patient with cryopyrin-associated periodic syndrome. ( 26683645 )
2016
20
Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics. ( 27650144 )
2016
21
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. ( 27134254 )
2016
22
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. ( 27371654 )
2016
23
Late onset cryopyrin-associated periodic syndrome due to myeloid-restricted somatic NLRP3 mosaicism. ( 27273849 )
2016
24
Comment on: real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome: reply. ( 27208220 )
2016
25
Long-term safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients. ( 27974104 )
2016
26
Real-world experience and impact of canakinumab in cryopyrin-associated periodic syndrome: Results from the French observational study ENVOL. ( 27635935 )
2016
27
Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation. ( 25988971 )
2015
28
Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome. ( 26218404 )
2015
29
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts. ( 25979514 )
2015
30
A case of cryopyrin-associated periodic syndrome with kidney transplant failure. ( 28509262 )
2015
31
Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome. ( 26312542 )
2015
32
Sudden cardiac arrest secondary to cardiac amyloidosis in a young woman with cryopyrin-associated periodic syndrome. ( 25883259 )
2015
33
Neutrophilic urticarial dermatosis (NUD) indicating Cryopyrin-associated periodic syndrome associated with a novel mutation of the NLRP3 gene. ( 25732894 )
2015
34
Cryopyrin-associated periodic syndrome. ( 25438464 )
2014
35
Anakinra for cryopyrin-associated periodic syndrome. ( 24308832 )
2014
36
Cryopyrin-associated periodic syndrome. ( 25507981 )
2014
37
Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. ( 25038238 )
2014
38
Cryopyrin associated periodic syndrome with neurological involvement in a 50-year-old patient. ( 24517880 )
2014
39
Longterm followup of quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab, an anti-interleukin 1I^ monoclonal antibody. ( 25086140 )
2014
40
Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS). ( 24773462 )
2014
41
Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy. ( 25349319 )
2014
42
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation. ( 24501247 )
2014
43
Inhibition of the NF-I_B pathway as a candidate therapeutic strategy for cryopyrin-associated periodic syndrome. ( 24252030 )
2013
44
Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome. ( 23650909 )
2013
45
Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome. ( 23966762 )
2013
46
Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan. ( 23085882 )
2013
47
Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results). ( 23380020 )
2013
48
Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation. ( 23811320 )
2013
49
Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry. ( 24016338 )
2013
50
Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience. ( 24352339 )
2013
Sources

Variations for Cryopyrin-Associated Periodic Syndrome

About this section

ClinVar genetic disease variations for Cryopyrin-Associated Periodic Syndrome:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1020C> T (p.Pro340=) single nucleotide variant Benign/Likely benign rs41311573 GRCh38 Chromosome 1, 247424469: 247424469
2 NLRP3 NM_001243133.1(NLRP3): c.1020C> T (p.Pro340=) single nucleotide variant Benign/Likely benign rs41311573 GRCh37 Chromosome 1, 247587771: 247587771
3 NLRP3 NM_001243133.1(NLRP3): c.1316C> T (p.Ala439Val) single nucleotide variant Pathogenic rs121908146 GRCh37 Chromosome 1, 247588067: 247588067
4 NLRP3 NM_001243133.1(NLRP3): c.1316C> T (p.Ala439Val) single nucleotide variant Pathogenic rs121908146 GRCh38 Chromosome 1, 247424765: 247424765
5 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh37 Chromosome 1, 247587343: 247587343
6 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh38 Chromosome 1, 247424041: 247424041
7 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
8 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
9 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh37 Chromosome 1, 247587783: 247587783
10 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh38 Chromosome 1, 247424481: 247424481
11 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
12 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh38 Chromosome 1, 247424492: 247424492
13 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh37 Chromosome 1, 247587982: 247587982
14 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh38 Chromosome 1, 247424680: 247424680
15 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180177465 GRCh37 Chromosome 1, 247588057: 247588057
16 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180177465 GRCh38 Chromosome 1, 247424755: 247424755
17 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh37 Chromosome 1, 247588140: 247588140
18 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh38 Chromosome 1, 247424838: 247424838
19 NLRP3 NM_001243133.1(NLRP3): c.1463G> A (p.Arg488Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145268073 GRCh37 Chromosome 1, 247588214: 247588214
20 NLRP3 NM_001243133.1(NLRP3): c.1463G> A (p.Arg488Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145268073 GRCh38 Chromosome 1, 247424912: 247424912
21 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh37 Chromosome 1, 247588351: 247588351
22 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh38 Chromosome 1, 247425049: 247425049
23 NLRP3 NM_001243133.1(NLRP3): c.674C> T (p.Ala225Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180177493 GRCh37 Chromosome 1, 247587425: 247587425
24 NLRP3 NM_001243133.1(NLRP3): c.674C> T (p.Ala225Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180177493 GRCh38 Chromosome 1, 247424123: 247424123
25 NLRP3 NM_001243133.1(NLRP3): c.930C> T (p.Asp310=) single nucleotide variant Benign/Likely benign rs143840033 GRCh37 Chromosome 1, 247587681: 247587681
26 NLRP3 NM_001243133.1(NLRP3): c.930C> T (p.Asp310=) single nucleotide variant Benign/Likely benign rs143840033 GRCh38 Chromosome 1, 247424379: 247424379
27 NLRP3 NM_001243133.1(NLRP3): c.937A> G (p.Ile313Val) single nucleotide variant Uncertain significance rs180177501 GRCh37 Chromosome 1, 247587688: 247587688
28 NLRP3 NM_001243133.1(NLRP3): c.937A> G (p.Ile313Val) single nucleotide variant Uncertain significance rs180177501 GRCh38 Chromosome 1, 247424386: 247424386
29 NLRP3 NM_004895.4(NLRP3): c.786G> A (p.Arg262=) single nucleotide variant Benign rs4925543 GRCh38 Chromosome 1, 247424229: 247424229
30 NLRP3 NM_004895.4(NLRP3): c.786G> A (p.Arg262=) single nucleotide variant Benign rs4925543 GRCh37 Chromosome 1, 247587531: 247587531
31 NLRP3 NM_004895.4(NLRP3): c.1407C> T (p.Leu469=) single nucleotide variant Benign/Likely benign rs141637807 GRCh37 Chromosome 1, 247588152: 247588152
32 NLRP3 NM_004895.4(NLRP3): c.1407C> T (p.Leu469=) single nucleotide variant Benign/Likely benign rs141637807 GRCh38 Chromosome 1, 247424850: 247424850
33 NLRP3 NM_004895.4(NLRP3): c.230C> T (p.Ala77Val) single nucleotide variant Uncertain significance rs200288250 GRCh37 Chromosome 1, 247582326: 247582326
34 NLRP3 NM_004895.4(NLRP3): c.230C> T (p.Ala77Val) single nucleotide variant Uncertain significance rs200288250 GRCh38 Chromosome 1, 247419024: 247419024
35 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
36 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
37 NLRP3 NM_004895.4(NLRP3): c.2617G> A (p.Ala873Thr) single nucleotide variant Uncertain significance rs201867582 GRCh38 Chromosome 1, 247436088: 247436088
38 NLRP3 NM_004895.4(NLRP3): c.2617G> A (p.Ala873Thr) single nucleotide variant Uncertain significance rs201867582 GRCh37 Chromosome 1, 247599390: 247599390
39 NLRP3 NM_004895.4(NLRP3): c.2494C> A (p.Leu832Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs114158404 GRCh38 Chromosome 1, 247434269: 247434269
40 NLRP3 NM_004895.4(NLRP3): c.2494C> A (p.Leu832Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs114158404 GRCh37 Chromosome 1, 247597571: 247597571
41 NLRP3 NM_004895.4(NLRP3): c.3043A> G (p.Lys1015Glu) single nucleotide variant Uncertain significance rs771315000 GRCh37 Chromosome 1, 247611738: 247611738
42 NLRP3 NM_004895.4(NLRP3): c.3043A> G (p.Lys1015Glu) single nucleotide variant Uncertain significance rs771315000 GRCh38 Chromosome 1, 247448436: 247448436
43 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Conflicting interpretations of pathogenicity rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
44 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Conflicting interpretations of pathogenicity rs117287351 GRCh37 Chromosome 1, 247582310: 247582310
45 NLRP3 NM_004895.4(NLRP3): c.2157-7T> C single nucleotide variant Benign rs116546330 GRCh37 Chromosome 1, 247592880: 247592880
46 NLRP3 NM_004895.4(NLRP3): c.2157-7T> C single nucleotide variant Benign rs116546330 GRCh38 Chromosome 1, 247429578: 247429578
47 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35829419 GRCh37 Chromosome 1, 247588858: 247588858
48 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35829419 GRCh38 Chromosome 1, 247425556: 247425556
49 NLRP3 NM_004895.4(NLRP3): c.429C> T (p.Tyr143=) single nucleotide variant Benign/Likely benign rs56710146 GRCh38 Chromosome 1, 247423872: 247423872
50 NLRP3 NM_004895.4(NLRP3): c.429C> T (p.Tyr143=) single nucleotide variant Benign/Likely benign rs56710146 GRCh37 Chromosome 1, 247587174: 247587174
Sources

Expression for Cryopyrin-Associated Periodic Syndrome

About this section
Search GEO for disease gene expression data for Cryopyrin-Associated Periodic Syndrome.
Sources

Pathways for Cryopyrin-Associated Periodic Syndrome

About this section

Pathways related to Cryopyrin-Associated Periodic Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

Pathways related to Cryopyrin-Associated Periodic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Selenium Micronutrient Network 1
Show member pathways
 11.77 CRP IL6 SAA4
2
IL-1 Family Signaling Pathways 66
Show member pathways
 11.38 IL1R1 IL1RN IL6
3
Pertussis 38
11.28 IL6 NLRP3
4
Microglia Activation During Neuroinflammation: Microglia Polarization 66
11.22 IL1RN IL6
5
IL1 and megakaryocytes in obesity 1
10.72 IL1R1 NLRP3
6
Interleukin-10 signaling 67
10.49 IL1R1 IL1RN IL6
7
Overview of nanoparticle effects 1
10.43 CRP IL6
Sources

GO Terms for Cryopyrin-Associated Periodic Syndrome

About this section

Cellular components related to Cryopyrin-Associated Periodic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.1 CRP IL1R1 IL1RN IL6 NLRP3 SAA4

Biological processes related to Cryopyrin-Associated Periodic Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.71 IL1R1 IL1RN IL6
2 cytokine-mediated signaling pathway GO:0019221 9.63 IL1R1 IL1RN IL6
3 cellular response to lipopolysaccharide GO:0071222 9.58 IL1RN IL6 NLRP3
4 regulation of inflammatory response GO:0050727 9.52 IL1R1 NLRP3
5 response to glucocorticoid GO:0051384 9.51 IL1RN IL6
6 defense response to Gram-positive bacterium GO:0050830 9.5 CRP IL6 NLRP3
7 positive regulation of interleukin-6 production GO:0032755 9.49 IL1RN IL6
8 interleukin-1-mediated signaling pathway GO:0070498 9.48 IL1R1 IL1RN
9 negative regulation of lipid storage GO:0010888 9.37 CRP IL6
10 positive regulation of T-helper 2 cell cytokine production GO:2000553 9.26 IL6 NLRP3
11 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.16 IL1RN IL6
12 response to interleukin-1 GO:0070555 9.13 IL1R1
13 acute-phase response GO:0006953 9.13 CRP IL6 SAA4
14 inflammatory response GO:0006954 9.02 CRP IL1R1 IL1RN IL6 NLRP3
Sources

Sources for Cryopyrin-Associated Periodic Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....