MWS
MCID: MCK007
MIFTS: 63

Muckle-Wells Syndrome (MWS)

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

Aliases & Classifications for Muckle-Wells Syndrome

MalaCards integrated aliases for Muckle-Wells Syndrome:

Name: Muckle-Wells Syndrome 56 12 74 52 25 58 73 13 54 15 39 71
Urticaria-Deafness-Amyloidosis Syndrome 56 52 25 73
Uda Syndrome 56 52 25 73
Familial Amyloid Nephropathy with Urticaria and Deafness 25 29 6
Mws 56 25 73
Neutrophilic Urticaria 58 71
Cryopyrin-Associated Periodic Syndrome 2; Caps2 56
Cryopyrin-Associated Periodic Syndrome 2 56
Urticaria, Deafness and Amyloidosis 52
Urticaria-Deafness-Amyloidosis 74
Muckle Wells Syndrome 52
Caps2 56

Characteristics:

Orphanet epidemiological data:

58
muckle-wells syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult,elderly;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
episodes last 1 to 2 days
see also familial cold autoinflammatory syndrome , an allelic disorder with overlapping features


HPO:

31
muckle-wells syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

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


Summaries for Muckle-Wells Syndrome

Genetics Home Reference : 25 Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.

MalaCards based summary : Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to cryopyrin-associated periodic syndrome and familial cold autoinflammatory syndrome 1, and has symptoms including lower extremity pain An important gene associated with Muckle-Wells Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Rilonacept and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and neutrophil, and related phenotypes are splenomegaly and hepatomegaly

NIH Rare Diseases : 52 Muckle-Wells syndrome is an autoinflammatory disease , and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye ; progressive sensorineural deafness ; and amyloidosis . It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes medications such as canakinumab and rilonacept.

OMIM : 56 Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features. (191900)

UniProtKB/Swiss-Prot : 73 Muckle-Wells syndrome: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs.

Wikipedia : 74 Muckle-Wells syndrome (MWS), is a rare autosomal dominant disease which causes sensorineural deafness... more...

Related Diseases for Muckle-Wells Syndrome

Diseases related to Muckle-Wells Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 32.8 NLRP3 IL1RN IL1R1 CRP
2 familial cold autoinflammatory syndrome 1 32.6 TNFRSF1A NLRP3 MEFV IL1R1 CASP1
3 amyloidosis aa 31.5 MEFV CRP
4 cold urticaria 31.3 NLRP3 IL1RAPL2 IL1R1
5 amyloidosis 31.3 TNFRSF1A NLRP3 MEFV IL1RN CRP
6 hereditary periodic fever syndrome 31.1 TNFRSF1A NLRP3 MEFV
7 exanthem 31.0 NLRP3 MEFV IL1RN CXCL8 CRP
8 wells syndrome 30.9 TNFRSF1A NLRP3 MEFV IL1RAPL2 IL1R1 IL1B
9 autoinflammatory syndrome 30.9 NLRP3 NLRP12 NLRC4
10 conjunctivitis 30.8 NLRP3 NLRP12 NLRC4 CXCL8
11 leprosy 3 30.6 NOD2 IL1B CXCL8
12 papilledema 30.6 NLRP3 IL1RN IL1R1 CRP
13 arthropathy 30.5 NLRP3 IL1RN IL1RAPL2 IL1B CRP
14 otitis media 30.4 IL1B CXCL8 CRP
15 uveitis 30.4 TNFRSF1A NOD2 IL1R1 CXCL8
16 aseptic meningitis 30.3 NLRP3 IL1RN IL1R1 IL1B CXCL8
17 visceral leishmaniasis 30.2 IL1B IL18 CXCL8 CRP
18 sleep apnea 30.1 IL1B CXCL8 CRP
19 osteoarthritis 30.1 IL1RN IL1R1 IL1B CXCL8 CRP
20 relapsing fever 30.1 TNFRSF1A MVK MEFV CRP
21 physical urticaria 30.0 NLRP3 CRP
22 leishmaniasis 29.9 TNFRSF1A IL1B IL18 CXCL8 CRP
23 pericarditis 29.8 TNFRSF1A MEFV IL1RN IL1B CXCL8 CRP
24 hyper-igd syndrome 29.7 TNFRSF1A MVK IL1RN CRP
25 synovitis 29.5 TNFRSF1A IL1RN IL1B IL18 CXCL8 CRP
26 rheumatic disease 29.3 MEFV IL1RN IL1RAPL2 IL1R1 IL1B IL18
27 peritonitis 29.3 NLRP3 MEFV IL1B IL18 CXCL8 CRP
28 gastroenteritis 29.3 NLRP12 IL1RN IL1B CXCL8 CRP
29 pharyngitis 29.2 NLRP3 MVK MEFV IL1RN IL1B CXCL8
30 multiple sclerosis 29.2 TNFRSF1A IL1RN IL1R1 IL1B IL18 CXCL8
31 chronic meningitis 29.1 NLRP3 NLRP12 MVK MEFV IL1RN CRP
32 bone inflammation disease 28.9 TNFRSF1A NLRP3 IL1RN IL1B IL18 CXCL8
33 autoimmune disease 28.8 NLRP1 IL1RN IL1RAPL2 IL1R1 IL1B IL18
34 adult-onset still's disease 28.6 TNFRSF1A MEFV IL1RN IL1RAPL2 IL1R1 IL1B
35 systemic lupus erythematosus 28.4 TNFRSF1A NLRP1 IL1RN IL1R1 IL1B IL18
36 proteasome-associated autoinflammatory syndrome 1 28.4 NLRP3 MVK MEFV IL1RN IL1RAPL2 IL1R1
37 schnitzler syndrome 26.9 PYCARD NLRP3 NLRP12 MVK IL1RN IL1RAPL2
38 periodic fever, familial, autosomal dominant 26.7 TNFRSF1A PSTPIP1 NOD2 NLRP3 NLRP12 MVK
39 familial mediterranean fever 25.7 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
40 familial cold autoinflammatory syndrome 25.7 PYCARD PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
41 cinca syndrome 24.9 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP12
42 mowat-wilson syndrome 12.2
43 marden-walker syndrome 12.1
44 branchiootic syndrome 1 10.9
45 urticaria 10.8
46 sensorineural hearing loss 10.7
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
48 inflammatory myopathy with abundant macrophages 10.5 TNFRSF1A MEFV
49 intermittent hydrarthrosis 10.5 TNFRSF1A MEFV
50 idiopathic recurrent pericarditis 10.5 TNFRSF1A MEFV

Graphical network of the top 20 diseases related to Muckle-Wells Syndrome:



Diseases related to Muckle-Wells Syndrome

Symptoms & Phenotypes for Muckle-Wells Syndrome

Human phenotypes related to Muckle-Wells Syndrome:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
4 cranial nerve paralysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006824
5 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
6 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
7 uveitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000554
8 conjunctivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000509
9 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
10 episcleritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100534
11 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
12 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
13 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
14 urticaria 58 31 frequent (33%) Frequent (79-30%) HP:0001025
15 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
16 elevated erythrocyte sedimentation rate 58 31 frequent (33%) Frequent (79-30%) HP:0003565
17 renal amyloidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001917
18 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
21 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
22 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
23 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
24 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
25 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
26 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
27 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
28 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
29 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
30 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
31 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
32 abnormality of the genital system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000078
33 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
34 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
35 abnormality of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000366
36 recurrent aphthous stomatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011107
37 hearing impairment 31 HP:0000365
38 renal insufficiency 31 HP:0000083
39 abnormality of metabolism/homeostasis 58 Frequent (79-30%)
40 abnormality of the mouth 31 HP:0000153
41 leukocytosis 31 HP:0001974
42 abnormality of the skin 31 HP:0000951
43 recurrent fever 31 HP:0001954

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
lower extremity pain

Skeletal:
arthralgia, episodic

Muscle Soft Tissue:
myalgia, episodic

Immunology:
polymorphonuclear leukocytosis, episodic
increased il6, episodic

Head And Neck Ears:
sensorineural deafness, progressive, late-onset

Head And Neck Mouth:
aphthous ulcers

Genitourinary Kidneys:
renal failure
renal amyloidosis, late-onset

Skin Nails Hair Skin:
maculopapular rash, episodic
rash may or may not be pruritic

Metabolic Features:
fever, episodic

Laboratory Abnormalities:
polymorphonuclear leukocytosis, episodic
increased il6, episodic
increased erythrocyte sedimentation rate, episodic

Head And Neck Eyes:
conjunctivitis, episodic

Clinical features from OMIM:

191900

UMLS symptoms related to Muckle-Wells Syndrome:


lower extremity pain

GenomeRNAi Phenotypes related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 CASP1 CXCL8 IL18 IL1B NLRP1 NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 CASP1 CXCL8 IL18 IL1B NLRP1 NLRP3

MGI Mouse Phenotypes related to Muckle-Wells Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
2 homeostasis/metabolism MP:0005376 10.07 CASP1 CRP IL18 IL1B IL1R1 IL1RN
3 immune system MP:0005387 10.03 CASP1 CRP IL18 IL1B IL1R1 IL1RN
4 digestive/alimentary MP:0005381 9.91 CASP1 IL18 NLRP12 NLRP3 NOD2 PYCARD
5 integument MP:0010771 9.56 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
6 neoplasm MP:0002006 9.1 CASP1 IL1B IL1R1 NLRP12 PYCARD TNFRSF1A

Drugs & Therapeutics for Muckle-Wells Syndrome

Drugs for Muckle-Wells Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3
4 Antibodies Phase 3
5 Immunologic Factors Phase 3
6 Anti-Inflammatory Agents Phase 3
7 Vaccines Phase 3
8 Antirheumatic Agents Phase 1, Phase 2
9 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Three-part,Multicenter Study,With a Randomized,Double-blind,Placebo Controlled,Withdrawal Design in Part II to Assess Efficacy,Safety,and Tolerability of ACZ885(Anti-interleukin-1beta Monoclonal Antibody)in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
2 An Open-label, Efficacy and Safety Study of Canakinumab (Anti-interleukin-1β Monoclonal Antibody) Administered for 6 Months (24 Weeks) in Japanese Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease, Followed by an Extension Phase to Provide Canakinumab to Study Patients Until it is Approved and Marketed in Japan Completed NCT00991146 Phase 3 canakinumab
3 An Open-label, Long-term Safety and Efficacy Study of ACZ885 (Anti-interleukin-1β Monoclonal Antibody) Administered for at Least 6 Months 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)
4 An Open-label Extension Study to Assess Efficacy, Safety and Tolerability of Canakinumab and the Efficacy and Safety of Childhood Vaccinations in Patients With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01576367 Phase 3
5 An Open Label Study to Assess the Safety, Tolerability and Efficacy of Canakinumab (ACZ885) in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
6 A One-year Open-label, Multicenter Trial to Assess Efficacy, Safety and Tolerability of Canakinumab (ACZ885) and the Efficacy and Safety of Childhood Vaccinations in Patients Aged 4 Years or Younger With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01302860 Phase 3 ACZ885
7 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
8 IL1T-AI-0505: A Multi-center, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, & Efficacy of Rilonacept in Subjects With Cryopyrin-Associated Periodic Syndromes (CAPS) Using Parallel Group & Randomized Withdrawal Designs Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
9 A Single-Centre, Open Label Study of the Safety and Tolerability of Rilonacept in Subjects Living in Germany With Muckle-Wells Syndrome (MWS), a Cryopyrin-Associated Periodic Syndrome (CAPS), or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
10 An Open-Label, Phase II Dose Titration Study of ACZ885 (Human Anti-IL-1β Monoclonal Antibody) to Assess the Clinical Efficacy, Safety, Pharmacokinetics and Pharmacodynamics in Patients With NALP3 Mutations Completed NCT00487708 Phase 2 canakinumab
11 Continuation of a Pilot Open-Label Study of IL 1 Trap in Adult Subjects With Autoinflammatory Diseases: A Therapeutic Approach to Study Pathogenesis Completed NCT00094900 Phase 2 IL-1 Trap
12 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
13 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
14 An Open Label, Single Arm Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of HL2351 in Patients With Cryopyrin Associated Periodic Syndromes Terminated NCT02853084 Phase 2 HL2351
15 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome (FCAS) / Muckle-Wells Syndrome (MWS) and Behcet's Disease (BD) Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
16 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
17 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
18 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373

Search NIH Clinical Center for Muckle-Wells Syndrome

Genetic Tests for Muckle-Wells Syndrome

Genetic tests related to Muckle-Wells Syndrome:

# Genetic test Affiliating Genes
1 Familial Amyloid Nephropathy with Urticaria and Deafness 29 NLRP3

Anatomical Context for Muckle-Wells Syndrome

MalaCards organs/tissues related to Muckle-Wells Syndrome:

40
Skin, Eye, Neutrophil, Kidney, Bone, Brain, Monocytes

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 259)
# Title Authors PMID Year
1
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 61 56 6
11992256 2002
2
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 61 56 6
11687797 2001
3
A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses. 61 56
19501001 2009
4
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 61 6
12032915 2002
5
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. 61 56
10486324 1999
6
Muckle-Wells syndrome: case report and review of cutaneous pathology. 61 56
9704852 1998
7
Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? 61 56
9797932 1998
8
Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome? 61 56
8737977 1996
9
Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. 61 56
7802040 1994
10
Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue. 61 56
6406764 1983
11
[Intermittent rheumatism revealing a familial syndrome. Arthritis--urticarian eruptions--deafness: Muckle-Wells syndrome without kidney amylosis]. 61 56
1083554 1976
12
Amyloidosis, deafness, urticaria, and limb pains: a hereditary syndrome. 56
5769632 1969
13
Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. 56
14476827 1962
14
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. 54 61
19180500 2009
15
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. 54 61
18558058 2008
16
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. 54 61
18311804 2008
17
Cryopyrin-associated periodic syndromes and autoinflammation. 54 61
17927785 2008
18
Primer: inflammasomes and interleukin 1beta in inflammatory disorders. 54 61
18172447 2008
19
Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. 54 61
17763411 2007
20
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. 54 61
17486372 2007
21
The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. 54 61
17431422 2007
22
[Biological and clinical aspects of Muckle-Wells syndrome]. 54 61
17473514 2007
23
[The molecular mechanism of autoinflammatory disease--lessons from the function of NOD protein families]. 54 61
17473508 2007
24
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). 54 61
18084703 2007
25
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. 54 61
17300660 2007
26
[Muckle-Wells syndrome: a rare periodic fever syndrome]. 54 61
16901068 2006
27
[The "self-inflammatory syndrome"]. 54 61
16019157 2006
28
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. 54 61
16531551 2006
29
Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. 54 61
16407888 2006
30
Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. 54 61
16279571 2005
31
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. 54 61
16081838 2005
32
Successful treatment of acute visual loss in Muckle-Wells syndrome with interleukin 1 receptor antagonist. 54 61
16014694 2005
33
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 54 61
15801036 2005
34
Identification of bacterial muramyl dipeptide as activator of the NALP3/cryopyrin inflammasome. 54 61
15530394 2004
35
Structural, expression, and evolutionary analysis of mouse CIAS1. 54 61
15302403 2004
36
Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. 54 61
15270877 2004
37
Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. 54 61
15071491 2004
38
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. 54 61
12930324 2003
39
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. 54 61
12815153 2003
40
Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. 54 61
12615073 2003
41
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. 54 61
12520003 2003
42
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. 54 61
12496512 2003
43
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 54 61
12483741 2002
44
PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. 54 61
11786556 2002
45
Ocular Involvement in Muckle-Wells Syndrome. 61
30556770 2020
46
Erratum: Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. 61
31929316 2020
47
Cryopyrin-associated periodic fever syndrome in children: A case-based review. 61
31858722 2019
48
The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome. 61
31846928 2019
49
Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger. 61
31161734 2019
50
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019

Variations for Muckle-Wells Syndrome

ClinVar genetic disease variations for Muckle-Wells Syndrome:

6 (show top 50) (show all 74) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP3 NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val)SNV Pathogenic 4373 rs121908149 1:247587806-247587806 1:247424504-247424504
2 NLRP3 NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp)SNV Pathogenic 4374 rs121908150 1:247587529-247587529 1:247424227-247424227
3 NLRP3 NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg)SNV Pathogenic 4375 rs121908151 1:247588456-247588456 1:247425154-247425154
4 NLRP3 NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn)SNV Pathogenic 4377 rs121908153 1:247587658-247587658 1:247424356-247424356
5 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro)SNV Pathogenic 4379 rs28937896 1:247587809-247587809 1:247424507-247424507
6 NLRP3 NM_004895.4(NLRP3):c.1049C>T (p.Thr350Met)SNV Pathogenic 97909 rs151344629 1:247587794-247587794 1:247424492-247424492
7 NLRP3 NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu)SNV Conflicting interpretations of pathogenicity 97990 rs180177462 1:247587695-247587695 1:247424393-247424393
8 NLRP3 NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly)SNV Conflicting interpretations of pathogenicity 234290 rs147946775 1:247592912-247592912 1:247429610-247429610
9 NLRP3 NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met)SNV Conflicting interpretations of pathogenicity 234293 rs139814109 1:247607973-247607973 1:247444671-247444671
10 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met)SNV Conflicting interpretations of pathogenicity 4371 rs121908147 1:247587343-247587343 1:247424041-247424041
11 NLRP3 NM_004895.4(NLRP3):c.1590C>T (p.Ala530=)SNV Conflicting interpretations of pathogenicity 138532 rs201644343 1:247588335-247588335 1:247425033-247425033
12 NLRP3 NM_004895.4(NLRP3):c.2124C>T (p.Leu708=)SNV Conflicting interpretations of pathogenicity 138534 rs149493236 1:247588869-247588869 1:247425567-247425567
13 NLRP3 NM_004895.4(NLRP3):c.214G>A (p.Val72Met)SNV Conflicting interpretations of pathogenicity 245593 rs117287351 1:247582310-247582310 1:247419008-247419008
14 NLRP3 NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys)SNV Conflicting interpretations of pathogenicity 259561 rs35829419 1:247588858-247588858 1:247425556-247425556
15 NLRP3 NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys)SNV Conflicting interpretations of pathogenicity 536887 rs139833874 1:247588390-247588390 1:247425088-247425088
16 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)SNV Uncertain significance 583341 rs200378519 1:247588871-247588871 1:247425569-247425569
17 NLRP3 NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val)SNV Uncertain significance 570991 rs745564372 1:247588565-247588565 1:247425263-247425263
18 NLRP3 NM_004895.4(NLRP3):c.2104G>A (p.Asp702Asn)SNV Uncertain significance 625986 rs781561828 1:247588849-247588849 1:247425547-247425547
19 NLRP3 NM_004895.4(NLRP3):c.*328_*331deldeletion Uncertain significance 296958 rs1057515460 1:247612132-247612135 1:247448830-247448833
20 NLRP3 NM_004895.4(NLRP3):c.*604A>CSNV Uncertain significance 296962 rs1057515532 1:247612410-247612410 1:247449108-247449108
21 NLRP3 NM_004895.4(NLRP3):c.34A>C (p.Arg12=)SNV Uncertain significance 296938 rs1057515531 1:247582130-247582130 1:247418828-247418828
22 NLRP3 NM_004895.4(NLRP3):c.200C>G (p.Ala67Gly)SNV Uncertain significance 296939 rs763252989 1:247582296-247582296 1:247418994-247418994
23 NLRP3 NM_004895.4(NLRP3):c.1367G>A (p.Gly456Glu)SNV Uncertain significance 296947 rs199696688 1:247588112-247588112 1:247424810-247424810
24 NLRP3 NM_004895.4(NLRP3):c.-527C>GSNV Uncertain significance 296928 rs141994679 1:247581570-247581570 1:247418268-247418268
25 NLRP3 NM_004895.4(NLRP3):c.-197G>ASNV Uncertain significance 296933 rs1042817230 1:247581900-247581900 1:247418598-247418598
26 NLRP3 NM_004895.4(NLRP3):c.-68G>ASNV Uncertain significance 296935 rs202076321 1:247582029-247582029 1:247418727-247418727
27 NLRP3 NM_004895.4(NLRP3):c.3048T>C (p.Ser1016=)SNV Uncertain significance 296954 rs1057515489 1:247611743-247611743 1:247448441-247448441
28 NLRP3 NM_004895.4(NLRP3):c.-679G>ASNV Uncertain significance 296924 rs768557674 1:247581418-247581418 1:247418116-247418116
29 NLRP3 NM_004895.4(NLRP3):c.-476dupduplication Uncertain significance 296930 rs144128307 1:247581609-247581610 1:247418307-247418308
30 NLRP3 NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu)SNV Uncertain significance 296953 rs1057515488 1:247599411-247599411 1:247436109-247436109
31 NLRP3 NM_004895.4(NLRP3):c.*324_*327deldeletion Uncertain significance 296957 rs886506882 1:247612127-247612130 1:247448825-247448828
32 NLRP3 NM_004895.4(NLRP3):c.-623C>TSNV Uncertain significance 296925 rs200090360 1:247581474-247581474 1:247418172-247418172
33 NLRP3 NM_004895.4(NLRP3):c.-62C>TSNV Uncertain significance 296936 rs201758466 1:247582035-247582035 1:247418733-247418733
34 NLRP3 NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg)SNV Uncertain significance 234298 rs876660971 1:247587494-247587494 1:247424192-247424192
35 NLRP3 NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn)SNV Uncertain significance 234307 rs876660975 1:247607394-247607394 1:247444092-247444092
36 NLRP3 NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala)SNV Uncertain significance 234451 rs200089542 1:247607371-247607371 1:247444069-247444069
37 NLRP3 NM_004895.4(NLRP3):c.-454G>ASNV Likely benign 103034 rs199475727 1:247581643-247581643 1:247418341-247418341
38 NLRP3 NM_004895.4(NLRP3):c.1380C>T (p.His460=)SNV Likely benign 97929 rs180177481 1:247588125-247588125 1:247424823-247424823
39 NLRP3 NM_004895.4(NLRP3):c.593G>A (p.Ser198Asn)SNV Likely benign 97965 rs180177459 1:247587338-247587338 1:247424036-247424036
40 NLRP3 NM_004895.4(NLRP3):c.-704C>TSNV Likely benign 296923 rs199723383 1:247581393-247581393 1:247418091-247418091
41 NLRP3 NM_004895.4(NLRP3):c.1251C>T (p.Ile417=)SNV Likely benign 296946 rs139852370 1:247587996-247587996 1:247424694-247424694
42 NLRP3 NM_004895.4(NLRP3):c.2307C>G (p.Gly769=)SNV Likely benign 296951 rs150229101 1:247593037-247593037 1:247429735-247429735
43 NLRP3 NM_004895.4(NLRP3):c.2430C>T (p.Leu810=)SNV Likely benign 296952 rs147154764 1:247597507-247597507 1:247434205-247434205
44 NLRP3 NM_004895.4(NLRP3):c.-116T>CSNV Likely benign 296934 rs202234129 1:247581981-247581981 1:247418679-247418679
45 NLRP3 NM_004895.4(NLRP3):c.404-5C>TSNV Likely benign 296943 rs200459664 1:247587144-247587144 1:247423842-247423842
46 NLRP3 NM_004895.4(NLRP3):c.-537A>TSNV Likely benign 296927 rs116502550 1:247581560-247581560 1:247418258-247418258
47 NLRP3 NM_004895.4(NLRP3):c.283+11G>ASNV Likely benign 296941 rs577522959 1:247582390-247582390 1:247419088-247419088
48 NLRP3 NM_004895.4(NLRP3):c.-527C>TSNV Likely benign 296929 rs141994679 1:247581570-247581570 1:247418268-247418268
49 NLRP3 NM_004895.4(NLRP3):c.2191C>A (p.Arg731=)SNV Likely benign 296949 rs148590318 1:247592921-247592921 1:247429619-247429619
50 NLRP3 NM_004895.4(NLRP3):c.209T>C (p.Met70Thr)SNV Likely benign 296940 rs147559626 1:247582305-247582305 1:247419003-247419003

UniProtKB/Swiss-Prot genetic disease variations for Muckle-Wells Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Val200Met VAR_013227 rs121908147
2 NLRP3 p.Ala354Val VAR_013228 rs121908149
3 NLRP3 p.Arg262Trp VAR_014104 rs121908150
4 NLRP3 p.Asp305Asn VAR_014105 rs121908153
5 NLRP3 p.Gly571Arg VAR_014107 rs121908151
6 NLRP3 p.Leu307Pro VAR_014124 rs180177431
7 NLRP3 p.Thr350Met VAR_014366 rs151344629
8 NLRP3 p.Ala441Thr VAR_014369 rs180177430

Expression for Muckle-Wells Syndrome

Search GEO for disease gene expression data for Muckle-Wells Syndrome.

Pathways for Muckle-Wells Syndrome

Pathways related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
2
Show member pathways
13.31 TNFRSF1A NOD2 IL1RN IL1R1 IL1B IL18
3
Show member pathways
13.11 TNFRSF1A PYCARD NOD2 NLRP3 NLRP12 NLRP1
4
Show member pathways
12.81 TNFRSF1A PYCARD NLRP3 IL1B IL18 CXCL8
5
Show member pathways
12.69 PYCARD IL1B IL18 CXCL8 CASP1
6
Show member pathways
12.29 NOD2 IL1RN IL1R1 IL1B CASP1
7 12.28 TNFRSF1A PYCARD NLRP3 NLRC4 IL1R1 IL1B
8 12.23 TNFRSF1A PYCARD NLRP3 IL1R1 IL1B IL18
9
Show member pathways
12.22 IL1RN IL1R1 IL1B IL18 CXCL8
10
Show member pathways
12.2 TNFRSF1A PYCARD NLRP3 IL1B CASP1
11 12.17 TNFRSF1A NOD2 IL1B IL18
12
Show member pathways
12.14 PYCARD NLRP3 IL1B CASP1
13 12.03 PYCARD NLRP3 MEFV IL1B IL18 CXCL8
14 11.9 TNFRSF1A IL1R1 IL1B CXCL8
15 11.88 TNFRSF1A NOD2 IL1B
16 11.86 PYCARD NLRC4 IL1B IL18 CXCL8 CASP1
17 11.83 IL1R1 IL1B CXCL8
18
Show member pathways
11.82 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
19 11.8 PYCARD NLRP3 IL1B CXCL8 CASP1
20 11.79 IL1B IL18 CXCL8
21 11.72 IL1R1 IL1B IL18
22 11.69 PYCARD NLRC4 IL1B IL18 CXCL8 CASP1
23 11.66 IL1RN IL1B IL18
24 11.66 PYCARD PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
25
Show member pathways
11.6 TNFRSF1A IL1B CXCL8
26 11.54 TNFRSF1A IL1RN IL1R1 IL1B IL18 CXCL8
27 11.49 IL1B IL18 CXCL8
28 11.27 PYCARD NOD2 NLRP3 NLRP12 NLRP1 NLRC4
29 11.24 NLRP3 IL1R1 IL1B IL18
30 11.15 NLRP1 IL1B IL18 CASP1
31 10.57 IL1B IL18 CASP1

GO Terms for Muckle-Wells Syndrome

Cellular components related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 TNFRSF1A PYCARD NLRP3 IL1RN IL1R1 IL1B
2 inflammasome complex GO:0061702 9.37 NLRP3 NLRP1
3 AIM2 inflammasome complex GO:0097169 9.26 PYCARD CASP1
4 IPAF inflammasome complex GO:0072557 9.16 NLRC4 CASP1
5 NLRP3 inflammasome complex GO:0072559 9.13 PYCARD NLRP3 CASP1
6 NLRP1 inflammasome complex GO:0072558 8.8 PYCARD NLRP1 CASP1

Biological processes related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 TNFRSF1A PYCARD PSTPIP1 NLRP3 NLRP12 IL1RN
2 apoptotic process GO:0006915 10.14 TNFRSF1A PYCARD NLRP3 NLRP1 NLRC4 IL1B
3 immune system process GO:0002376 10.13 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
4 immune response GO:0006955 10.07 IL1RN IL1R1 IL1B IL18 CXCL8
5 innate immune response GO:0045087 10.06 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
6 regulation of apoptotic process GO:0042981 10.02 PYCARD NOD2 NLRP1 NLRC4 CASP1
7 defense response to bacterium GO:0042742 9.98 TNFRSF1A NOD2 NLRP1 NLRC4
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.97 TNFRSF1A NOD2 IL1RN IL1B CASP1
9 defense response GO:0006952 9.94 TNFRSF1A NOD2 NLRP3 CXCL8
10 interleukin-1-mediated signaling pathway GO:0070498 9.92 NOD2 IL1RN IL1R1 IL1B
11 negative regulation of inflammatory response GO:0050728 9.92 TNFRSF1A NLRP3 NLRP12 MVK MEFV
12 positive regulation of inflammatory response GO:0050729 9.91 TNFRSF1A NLRP12 IL1B IL18
13 positive regulation of JNK cascade GO:0046330 9.91 PYCARD NOD2 IL1RN IL1B
14 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.91 PYCARD NOD2 NLRP3 NLRC4 IL1B IL18
15 cellular response to lipopolysaccharide GO:0071222 9.87 PYCARD NOD2 NLRP3 IL1RN IL1B CXCL8
16 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.86 PYCARD NLRP3 NLRP12
17 neutrophil chemotaxis GO:0030593 9.86 IL1RN IL1B CXCL8
18 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.86 NOD2 NLRP12 IL1B IL18
19 cellular response to mechanical stimulus GO:0071260 9.85 TNFRSF1A IL1B CASP1
20 positive regulation of interleukin-6 production GO:0032755 9.85 PYCARD NOD2 IL1RN IL1B
21 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.85 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 CASP1
22 cellular response to organic cyclic compound GO:0071407 9.84 NOD2 IL1B IL18
23 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.84 PYCARD NLRP3 NLRP1 CASP1
24 positive regulation of interferon-gamma production GO:0032729 9.81 PYCARD IL1R1 IL1B IL18
25 positive regulation of interleukin-1 beta production GO:0032731 9.77 PYCARD NOD2 CASP1
26 cytokine-mediated signaling pathway GO:0019221 9.76 TNFRSF1A IL1RN IL1RAPL2 IL1R1 IL1B IL18
27 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.74 PYCARD NLRP12 NLRC4
28 regulation of inflammatory response GO:0050727 9.73 PYCARD NOD2 NLRP3 NLRP1 IL1R1 CASP1
29 positive regulation of interleukin-17 production GO:0032740 9.7 NOD2 IL18
30 positive regulation of neuroinflammatory response GO:0150078 9.7 IL1B IL18
31 neutrophil activation GO:0042119 9.69 IL18 CXCL8
32 response to muramyl dipeptide GO:0032495 9.69 NOD2 NLRP1
33 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.68 IL1B IL18
34 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.67 PYCARD MEFV
35 detection of bacterium GO:0016045 9.67 NOD2 NLRC4
36 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.67 IL1R1 IL1B IL18
37 regulation of establishment of endothelial barrier GO:1903140 9.66 TNFRSF1A IL1B
38 positive regulation of T-helper 2 cell differentiation GO:0045630 9.65 NLRP3 IL18
39 interleukin-6 production GO:0032635 9.65 IL1B IL18
40 cellular response to peptidoglycan GO:0071224 9.65 NOD2 NLRP3
41 interleukin-1 beta production GO:0032611 9.65 PYCARD NLRP3 IL1B
42 positive regulation of type 2 immune response GO:0002830 9.64 NOD2 NLRP3
43 cytokine secretion involved in immune response GO:0002374 9.63 NOD2 NLRP3
44 detection of biotic stimulus GO:0009595 9.63 NOD2 NLRP3
45 inflammatory response GO:0006954 9.44 TNFRSF1A PYCARD PSTPIP1 NLRP3 NLRP1 NLRC4
46 positive regulation of interleukin-1 beta secretion GO:0050718 9.43 PYCARD NOD2 NLRP3 NLRP12 NLRP1 CASP1

Molecular functions related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP12
2 identical protein binding GO:0042802 9.76 PYCARD PSTPIP1 NLRP3 NLRC4 MVK MEFV
3 cytokine activity GO:0005125 9.62 IL1RN IL1B IL18 CXCL8
4 CARD domain binding GO:0050700 9.43 NOD2 CASP1
5 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 PYCARD CASP1
6 interleukin-1 receptor binding GO:0005149 9.37 IL1RN IL1B
7 interleukin-1 receptor activity GO:0004908 9.26 IL1RAPL2 IL1R1
8 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.92 PYCARD NLRP12 NLRP1 CASP1

Sources for Muckle-Wells Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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