CINCA
MCID: CNC002
MIFTS: 65

Cinca Syndrome (CINCA)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cinca Syndrome

MalaCards integrated aliases for Cinca Syndrome:

Name: Cinca Syndrome 56 12 52 25 58 73 13 54 15 37 39
Cinca 56 52 25 73
Nomid 56 52 25 73
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 25 29 6
Chronic Infantile Neurological Cutaneous Articular Syndrome 12 52 58
Neonatal Onset Multisystem Inflammatory Disease 52 25 73
Cryopyrin-Associated Periodic Syndrome 3 56 12 73
Prieur-Griscelli Syndrome 12 25 58
Iomid Syndrome 12 25 58
Chronic Neurologic Cutaneous and Articular Syndrome 56 12
Multisystem Inflammatory Disease, Neonatal-Onset 56 52
Infantile-Onset Multisystem Inflammatory Disease 12 58
Infantile Onset Multisystem Inflammatory Disease 52 25
Neonatal-Onset Multisystem Inflammatory Disease 12 58
Cryopyrin-Associated Periodic Syndromes 43 71
Nomid Syndrome 12 58
Caps3 56 73
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 71
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome 74
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 25
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 73
Multisystem Inflammatory Disease, Neonatal-Onset; Nomid 56
Chronic Neurologic, Cutaneous, and Articular Syndrome 25
Cryopyrin-Associated Periodic Syndrome 3; Caps3 56
Prieur Griscelli Syndrome 52
Iomid 52

Characteristics:

Orphanet epidemiological data:

58
cinca syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, neonatal to 3 years


HPO:

31
cinca syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Cinca Syndrome

Genetics Home Reference : 25 Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. The rash persists throughout life, although it changes in size and location. Affected individuals often have headaches, seizures, and vomiting resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Intellectual disability may occur in some people with this disorder. Hearing and vision problems may result from nerve damage and inflammation in various tissues of the eyes. People with NOMID experience joint inflammation, swelling, and cartilage overgrowth, causing characteristic prominent knees and other skeletal abnormalities that worsen over time. Joint deformities called contractures may restrict the movement of certain joints. Other features of this disorder include short stature with shortening of the lower legs and forearms, and characteristic facial features such as a prominent forehead and protruding eyes. Abnormal deposits of a protein called amyloid (amyloidosis) may cause progressive kidney damage.

MalaCards based summary : Cinca Syndrome, also known as cinca, is related to systemic onset juvenile idiopathic arthritis and exanthem, and has symptoms including recurrent fevers An important gene associated with Cinca 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 Ginseng and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are nausea and vomiting and increased intracranial pressure

Disease Ontology : 12 An autoimmune hypersensitivity disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has material basis in heterozygous mutation in the NLRP3 gene on chromosome 1q.

NIH Rare Diseases : 52 Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (congenital ) characterized by tissue damage of the nervous system, skin, and joints. Individuals with NOMID have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures , and vomiting resulting from chronic meningitis (inflammation of the tissue that covers and protects the brain and spinal cord); intellectual disability ; episodes of mild fever; and hearing and vision problems. NOMID is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the NLRP3 (CIAS1 ) gene . About 50% of affected individuals with NOMID are found to have mutations in this gene. This condition is inherited in an autosomal dominant manner. Treatment may include the use of medications to suppress the process of inflammation, such as anti-inflammatories, corticosteroids , and interleukin-1 beta receptors.

OMIM : 56 Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002). See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype. (607115)

UniProtKB/Swiss-Prot : 73 Chronic infantile neurologic cutaneous and articular syndrome: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.

Wikipedia : 74 Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes... more...

Related Diseases for Cinca Syndrome

Diseases related to Cinca Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 systemic onset juvenile idiopathic arthritis 32.4 IL1RN IL1RAPL2 IL1B IL18
2 exanthem 31.3 NLRP3 MEFV IL1RN CCR6
3 conjunctivitis 31.2 NLRP3 NLRP12 NLRC4
4 hereditary periodic fever syndrome 31.1 TNFRSF1A NLRP3 MEFV
5 arthropathy 31.0 NLRP3 IL1RN IL1RAPL2 IL1B
6 chronic meningitis 30.9 NLRP3 NLRP12 MVK MEFV IL1RN
7 macrophage activation syndrome 30.8 TNFRSF1A NLRC4 IL18
8 cold urticaria 30.8 NLRP3 IL1RAPL2 IL1R1
9 aseptic meningitis 30.8 NLRP3 IL1RN IL1R1 IL1B
10 scleritis 30.8 IL1RN IL1RAPL2 CCR6
11 cryopyrin-associated periodic syndrome 30.8 NLRP3 IL1RN IL1R1
12 autoinflammatory syndrome 30.8 NLRP3 NLRP12 NLRC4
13 gastroenteritis 30.7 NLRP12 IL1RN IL1B
14 papilledema 30.7 NLRP3 IL1RN IL1R1
15 hyper-igd syndrome 30.7 TNFRSF1A MVK IL1RN
16 panuveitis 30.6 NOD2 IL1RN CCR6
17 synovitis 30.6 TNFRSF1A IL1RN IL1B IL18
18 pericarditis 30.6 TNFRSF1A MEFV IL1RN IL1B
19 neurofibromatosis, type ii 30.5 PSTPIP1 MEFV IL1RN CCR6
20 wells syndrome 30.5 TNFRSF1A NLRP3 MEFV IL1RAPL2 IL1R1 IL1B
21 familial cold autoinflammatory syndrome 1 30.4 TNFRSF1A NLRP3 MEFV IL1R1 CASP1
22 amyloidosis 30.4 TNFRSF1A NLRP3 MEFV IL1RN
23 adult-onset still's disease 30.4 TNFRSF1A MEFV IL1RN IL1RAPL2 IL1R1 IL1B
24 juvenile rheumatoid arthritis 30.3 TNFRSF1A IL1RN IL1R1 IL1B IL18
25 sarcoidosis 1 30.3 NOD2 IL1RN IL1B IL18 CCR6
26 gout 30.2 PYCARD NLRP3 MEFV IL1R1 IL1B IL18
27 autoimmune disease 30.2 NLRP1 IL1RN IL1RAPL2 IL1R1 IL1B IL18
28 rheumatic disease 29.9 MEFV IL1RN IL1RAPL2 IL1R1 IL1B IL18
29 proteasome-associated autoinflammatory syndrome 1 29.9 NLRP3 MVK MEFV IL1RN IL1RAPL2 IL1R1
30 pyoderma 29.8 PSTPIP1 NOD2 NLRP3 MVK MEFV IL1RN
31 pyoderma gangrenosum 29.8 PSTPIP1 NOD2 NLRP3 MVK MEFV IL1RN
32 rheumatoid arthritis 29.8 TNFRSF1A NLRP1 IL1RN IL1RAPL2 IL1R1 IL1B
33 blau syndrome 29.6 PSTPIP1 NOD2 NLRP3 NLRP12 NLRC4 MVK
34 arthritis 29.3 TNFRSF1A PSTPIP1 NOD2 NLRP1 MEFV IL1RN
35 periodic fever, familial, autosomal dominant 29.3 TNFRSF1A PSTPIP1 NOD2 NLRP3 NLRP12 MVK
36 mevalonic aciduria 29.1 TNFRSF1A PSTPIP1 NOD2 NLRP3 NLRP12 NLRC4
37 familial mediterranean fever 28.4 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
38 muckle-wells syndrome 28.1 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP12
39 familial cold autoinflammatory syndrome 27.9 PYCARD PSTPIP1 NOD2 NLRP7 NLRP3 NLRP12
40 obsolete: cinca syndrome with nlrp3 mutations 12.2
41 obsolete: cinca syndrome without nlrp3 mutations 12.2
42 catastrophic antiphospholipid syndrome 11.6
43 inflammatory myopathy with abundant macrophages 10.6 TNFRSF1A MEFV
44 intermittent hydrarthrosis 10.6 TNFRSF1A MEFV
45 amyloidosis aa 10.5
46 idiopathic recurrent pericarditis 10.5 TNFRSF1A MEFV
47 juvenile ankylosing spondylitis 10.5 MEFV IL1RN
48 bone sarcoma 10.5 TNFRSF1A IL1RN IL1R1
49 cerebral artery occlusion 10.5 IL1RN IL1RAPL2 IL1B
50 relapsing fever 10.5 TNFRSF1A MVK MEFV

Graphical network of the top 20 diseases related to Cinca Syndrome:



Diseases related to Cinca Syndrome

Symptoms & Phenotypes for Cinca Syndrome

Human phenotypes related to Cinca Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 increased intracranial pressure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002516
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
6 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
7 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
8 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
9 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
10 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
11 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
12 uveitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000554
13 meningitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001287
14 abnormality of neutrophils 58 31 hallmark (90%) Very frequent (99-80%) HP:0001874
15 elevated c-reactive protein level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011227
16 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
17 pseudopapilledema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000538
18 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
19 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
20 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
21 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
22 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
23 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
24 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
25 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
26 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
27 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
28 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
29 delayed closure of the anterior fontanelle 58 31 frequent (33%) Frequent (79-30%) HP:0001476
30 abnormal thrombocyte morphology 31 frequent (33%) HP:0001872
31 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
32 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
33 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
34 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
35 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
36 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
37 purpura 58 31 occasional (7.5%) Occasional (29-5%) HP:0000979
38 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
39 retrobulbar optic neuritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100654
40 hearing impairment 58 Very frequent (99-80%)
41 arthritis 31 HP:0001369
42 visual impairment 58 Frequent (79-30%)
43 skin rash 31 HP:0000988
44 abnormality of thrombocytes 58 Frequent (79-30%)
45 inflammatory abnormality of the eye 58 Very frequent (99-80%)
46 abnormal joint morphology 58 Frequent (79-30%)
47 progressive sensorineural hearing impairment 31 HP:0000408
48 abnormality of granulocytes 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
frontal bossing

Head And Neck Eyes:
protruding eyes
visual defects, progressive

Skeletal:
joint inflammation
bone defects involving the growth cartilage or bone epiphysis

Skin Nails Hair Skin:
skin rash, persistent and migratory

Neurologic Central Nervous System:
meningitis, chronic, due to polymorphonuclear cell infiltration

Growth Other:
growth retardation

Head And Neck Ears:
hearing loss, sensorineural, progressive

Skeletal Limbs:
short distal limbs

Skin Nails Hair Skin Histology:
perivascular polymorphonuclear infiltrates

Metabolic Features:
fever, recurrent

Clinical features from OMIM:

607115

UMLS symptoms related to Cinca Syndrome:


recurrent fevers

GenomeRNAi Phenotypes related to Cinca 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 9.84 CASP1 IL18 IL1B NLRP1 NLRP3 NOD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 CASP1 IL18 IL1B NLRP1 NLRP3 NOD2

MGI Mouse Phenotypes related to Cinca Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 AIM2 ATN1 CASP1 CCR6 IL18 IL1B
2 homeostasis/metabolism MP:0005376 10.13 AIM2 ATN1 CASP1 CCR6 IL18 IL1B
3 cellular MP:0005384 10.11 AIM2 CASP1 IL18 IL1R1 IL1RN MEFV
4 immune system MP:0005387 10.09 AIM2 ATN1 CASP1 CCR6 IL18 IL1B
5 integument MP:0010771 9.61 ATN1 CASP1 IL18 IL1B IL1R1 IL1RN
6 skeleton MP:0005390 9.28 AIM2 IL1B IL1R1 IL1RN MEFV NLRC4

Drugs & Therapeutics for Cinca Syndrome

Drugs for Cinca Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# 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 501081-76-1 104924
3 Cinnamon Approved Phase 2, Phase 3
4
Calcium polycarbophil Approved Phase 2, Phase 3 126040-58-2
5 Vaccines Phase 3
6 Anti-Inflammatory Agents Phase 3
7 Mitogens Phase 2, Phase 3
8 Juzentaihoto Phase 2, Phase 3
9 Psyllium Phase 2, Phase 3
10 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
11 Antirheumatic Agents Phase 2, Phase 3
12 Antibodies, Monoclonal Phase 3
13 Immunologic Factors Phase 3
14 Antibodies Phase 3
15 Immunoglobulins Phase 3
16
Histamine Approved, Investigational Phase 2 51-45-6 774
17
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
18
Tranilast Investigational Phase 2 53902-12-8 93543
19 Neurotransmitter Agents Phase 2
20 Platelet Aggregation Inhibitors Phase 2
21 Analgesics, Non-Narcotic Phase 2
22 Anti-Inflammatory Agents, Non-Steroidal Phase 2
23
Histamine Phosphate Phase 2 51-74-1 65513
24 Histamine H1 Antagonists Phase 2
25 Histamine Antagonists Phase 2
26 Calcium, Dietary Phase 2
27 calcium channel blockers Phase 2
28 Analgesics Phase 2
29 Anti-Allergic Agents Phase 2
30 Hormones Phase 2

Interventional clinical trials:

(show all 34)
# 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 : a Randomized, Double-blind, Placebo-controlled Trial Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
3 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)
4 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)
5 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
6 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
7 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
8 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
9 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
10 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
11 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet - A Randomized, Double-blinded, Placebo Controlled, Multi-center Pilot Study Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
12 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
13 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Not yet recruiting NCT04018755 Phase 2, Phase 3
14 A Multi-Center, Open Label, 24-Month Treatment Study to Establish the Safety, Tolerability, Efficacy, Pharmacokinetics of Canakinumab (Anti-IL-1 Beta Antibody) in Patients With NOMID / CINCA Syndrome Terminated NCT00770601 Phase 3 Canakinumab
15 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
16 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
17 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
18 A Prospective, Single-Center, Randomized, Triple-Blinded, Placebo-Controlled Study of IL-1RA Treatment in Patients With Acute ACL Tear and Painful Effusions Recruiting NCT02930122 Phase 2 Saline (0.9%) and anakinra (150mg);anakinra (150mg) and Saline (0.9%)
19 Efficacy and Safety of Tranilast in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS): A Single-Arm Prospective Cohort Study Recruiting NCT03923140 Phase 2 Tranilast
20 Early Phase Administration of Anakinra as a Rescue Treatment for Inhaled Allergen Challenge-Induced Airway Inflammation Enrolling by invitation NCT03513471 Phase 1, Phase 2 Dermatophagoides Farinae
21 Late Phase Administration Anakinra as a Rescue Treatment for Inhaled Allergen Challenge-Induced Airway Inflammation Enrolling by invitation NCT03513458 Phase 1, Phase 2 Dermatophagoides Farinae
22 A Long-Term Outcome Study With the IL-1 Receptor Antagonist Anakinra/Kineret in Patients With Neonatal Onset Multisystem Inflammatory Disease (NOMID/CINCA Syndrome) A Therapeutic Approach to Study the Pathogenesis of This Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
23 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
24 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
25 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
26 A Phase 1, Randomised, Double-Blind, Placebo-Controlled, Single and Multiple Ascending Dose Study to Determine the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of IZD334 in Healthy Adult Participants as Well as an Open-label Cohort to Confirm the Safety, Pharmacokinetics, and Pharmacodynamics in Adult Patients With Cryopyrin-Associated Periodic Syndromes Recruiting NCT04086602 Phase 1 IZD334;Placebos
27 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
28 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
29 Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis Recruiting NCT00059748
30 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
31 Studies of the 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
32 Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases Recruiting NCT02466217
33 Non-interventional PASS to Evaluate Safety of Kineret in Treatment of CAPS in Routine Clinical Care With Regard to Serious Infections, Malignancies, Injection Site Reactions, Allergic Reactions, Medication Errors Including Re-use of Syringe Active, not recruiting NCT02326376 anakinra (Kineret)
34 Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases Active, not recruiting NCT03569644

Search NIH Clinical Center for Cinca Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


anakinra

Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Cinca Syndrome

Genetic tests related to Cinca Syndrome:

# Genetic test Affiliating Genes
1 Chronic Infantile Neurological, Cutaneous and Articular Syndrome 29 NLRP3

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

40
Skin, Brain, Spinal Cord, Eye, Bone, Kidney, Neutrophil

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show top 50) (show all 187)
# Title Authors PMID Year
1
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 61 56 6
12032915 2002
2
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 56
12483741 2002
3
Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. 54 56
16532456 2006
4
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. 61 56
12928894 2003
5
A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. 61 56
11247311 2001
6
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 6
11992256 2002
7
NOMID--a neonatal syndrome of multisystem inflammation. 56
2781338 1989
8
Neonatal onset multisystem inflammatory disease. 56
6847730 1983
9
Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. 56
7252669 1981
10
A novel Y331X nonsense mutation in TNFRSF1A gene in two unrelated Turkish families with periodic fever syndrome. 54 61
19804406 2010
11
Rilonacept in the treatment of chronic inflammatory disorders. 54 61
19649332 2009
12
[What's new in autoinflammatory diseases?]. 54 61
18403063 2008
13
Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies. 54 61
18609262 2008
14
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
15
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. 54 61
17473513 2007
16
[The molecular mechanism of autoinflammatory disease--lessons from the function of NOD protein families]. 54 61
17473508 2007
17
[Biological and clinical aspects of Muckle-Wells syndrome]. 54 61
17473514 2007
18
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. 54 61
16920754 2007
19
[The "self-inflammatory syndrome"]. 54 61
16019157 2006
20
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. 54 61
16449034 2006
21
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. 54 61
16255047 2005
22
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. 54 61
16100350 2005
23
The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide. 54 61
16134734 2005
24
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 54 61
15801036 2005
25
Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. 54 61
15476236 2004
26
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 54 61
14630794 2004
27
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. 54 61
14872505 2004
28
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. 54 61
12930324 2003
29
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. 54 61
12673085 2003
30
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. 54 61
12520003 2003
31
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. 54 61
12496512 2003
32
Cryopyrin-associated periodic fever syndrome in children: A case-based review. 61
31858722 2019
33
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019
34
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. 61
30967326 2019
35
The effects of land use and topographic changes on sediment connectivity in mountain catchments. 61
30743975 2019
36
Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID). 61
30066283 2019
37
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma. 61
31217698 2019
38
The extreme floods in the Ebro River basin since 1600 CE. 61
30059925 2019
39
IL-1β Enhances Wnt Signal by Inhibiting DKK1. 61
29956067 2018
40
[Skin ulcerations due to CINCA syndrome and its successful treatment with prostaglandin E1]. 61
30066026 2018
41
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade. 61
29766377 2018
42
Absolute Reliability and Concurrent Validity of the Stryd System for the Assessment of Running Stride Kinematics at Different Velocities. 61
29781934 2018
43
[Cryopyrin-associated periodic syndromes]. 61
29111302 2018
44
[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature]. 61
29496273 2018
45
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. 61
29032440 2018
46
Issues with the Specificity of Immunological Reagents for NLRP3: Implications for Age-related Macular Degeneration. 61
29323137 2018
47
Correction to: Yuki Harada et al., CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. 61
29219639 2018
48
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. 61
25867226 2017
49
[Genetics of cryopyrin-associated periodic syndrome]. 61
28197772 2017
50
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq. 61
28956000 2017

Variations for Cinca Syndrome

ClinVar genetic disease variations for Cinca Syndrome:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP3 NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser)SNV Pathogenic 4376 rs121908152 1:247588469-247588469 1:247425167-247425167
2 NLRP3 NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn)SNV Pathogenic 4377 rs121908153 1:247587658-247587658 1:247424356-247424356
3 NLRP3 NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser)SNV Pathogenic 4378 rs121908154 1:247587677-247587677 1:247424375-247424375
4 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro)SNV Pathogenic 4379 rs28937896 1:247587809-247587809 1:247424507-247424507
5 NLRP3 NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly)SNV Conflicting interpretations of pathogenicity 234290 rs147946775 1:247592912-247592912 1:247429610-247429610
6 NLRP3 NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met)SNV Conflicting interpretations of pathogenicity 234293 rs139814109 1:247607973-247607973 1:247444671-247444671
7 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met)SNV Conflicting interpretations of pathogenicity 4371 rs121908147 1:247587343-247587343 1:247424041-247424041
8 NLRP3 NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu)SNV Conflicting interpretations of pathogenicity 97990 rs180177462 1:247587695-247587695 1:247424393-247424393
9 NLRP3 NM_004895.4(NLRP3):c.2124C>T (p.Leu708=)SNV Conflicting interpretations of pathogenicity 138534 rs149493236 1:247588869-247588869 1:247425567-247425567
10 NLRP3 NM_004895.4(NLRP3):c.214G>A (p.Val72Met)SNV Conflicting interpretations of pathogenicity 245593 rs117287351 1:247582310-247582310 1:247419008-247419008
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.2113C>A (p.Gln705Lys)SNV Conflicting interpretations of pathogenicity 259561 rs35829419 1:247588858-247588858 1:247425556-247425556
13 NLRP3 NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys)SNV Conflicting interpretations of pathogenicity 536887 rs139833874 1:247588390-247588390 1:247425088-247425088
14 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)SNV Uncertain significance 583341 rs200378519 1:247588871-247588871 1:247425569-247425569
15 NLRP3 NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val)SNV Uncertain significance 570991 rs745564372 1:247588565-247588565 1:247425263-247425263
16 NLRP3 NM_004895.4(NLRP3):c.2104G>A (p.Asp702Asn)SNV Uncertain significance 625986 rs781561828 1:247588849-247588849 1:247425547-247425547
17 NLRP3 NM_004895.4(NLRP3):c.*604A>CSNV Uncertain significance 296962 rs1057515532 1:247612410-247612410 1:247449108-247449108
18 NLRP3 NM_004895.4(NLRP3):c.34A>C (p.Arg12=)SNV Uncertain significance 296938 rs1057515531 1:247582130-247582130 1:247418828-247418828
19 NLRP3 NM_004895.4(NLRP3):c.200C>G (p.Ala67Gly)SNV Uncertain significance 296939 rs763252989 1:247582296-247582296 1:247418994-247418994
20 NLRP3 NM_004895.4(NLRP3):c.1367G>A (p.Gly456Glu)SNV Uncertain significance 296947 rs199696688 1:247588112-247588112 1:247424810-247424810
21 NLRP3 NM_004895.4(NLRP3):c.*328_*331deldeletion Uncertain significance 296958 rs1057515460 1:247612132-247612135 1:247448830-247448833
22 NLRP3 NM_004895.4(NLRP3):c.-197G>ASNV Uncertain significance 296933 rs1042817230 1:247581900-247581900 1:247418598-247418598
23 NLRP3 NM_004895.4(NLRP3):c.-68G>ASNV Uncertain significance 296935 rs202076321 1:247582029-247582029 1:247418727-247418727
24 NLRP3 NM_004895.4(NLRP3):c.3048T>C (p.Ser1016=)SNV Uncertain significance 296954 rs1057515489 1:247611743-247611743 1:247448441-247448441
25 NLRP3 NM_004895.4(NLRP3):c.-476dupduplication Uncertain significance 296930 rs144128307 1:247581609-247581610 1:247418307-247418308
26 NLRP3 NM_004895.4(NLRP3):c.-679G>ASNV Uncertain significance 296924 rs768557674 1:247581418-247581418 1:247418116-247418116
27 NLRP3 NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu)SNV Uncertain significance 296953 rs1057515488 1:247599411-247599411 1:247436109-247436109
28 NLRP3 NM_004895.4(NLRP3):c.*324_*327deldeletion Uncertain significance 296957 rs886506882 1:247612127-247612130 1:247448825-247448828
29 NLRP3 NM_004895.4(NLRP3):c.-623C>TSNV Uncertain significance 296925 rs200090360 1:247581474-247581474 1:247418172-247418172
30 NLRP3 NM_004895.4(NLRP3):c.-62C>TSNV Uncertain significance 296936 rs201758466 1:247582035-247582035 1:247418733-247418733
31 NLRP3 NM_004895.4(NLRP3):c.-527C>GSNV Uncertain significance 296928 rs141994679 1:247581570-247581570 1:247418268-247418268
32 NLRP3 NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg)SNV Uncertain significance 234298 rs876660971 1:247587494-247587494 1:247424192-247424192
33 NLRP3 NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn)SNV Uncertain significance 234307 rs876660975 1:247607394-247607394 1:247444092-247444092
34 NLRP3 NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala)SNV Uncertain significance 234451 rs200089542 1:247607371-247607371 1:247444069-247444069
35 NLRP3 NM_004895.4(NLRP3):c.593G>A (p.Ser198Asn)SNV Likely benign 97965 rs180177459 1:247587338-247587338 1:247424036-247424036
36 NLRP3 NM_004895.4(NLRP3):c.1380C>T (p.His460=)SNV Likely benign 97929 rs180177481 1:247588125-247588125 1:247424823-247424823
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.-527C>TSNV Likely benign 296929 rs141994679 1:247581570-247581570 1:247418268-247418268
39 NLRP3 NM_004895.4(NLRP3):c.2307C>G (p.Gly769=)SNV Likely benign 296951 rs150229101 1:247593037-247593037 1:247429735-247429735
40 NLRP3 NM_004895.4(NLRP3):c.2430C>T (p.Leu810=)SNV Likely benign 296952 rs147154764 1:247597507-247597507 1:247434205-247434205
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.-704C>TSNV Likely benign 296923 rs199723383 1:247581393-247581393 1:247418091-247418091
43 NLRP3 NM_004895.4(NLRP3):c.-537A>TSNV Likely benign 296927 rs116502550 1:247581560-247581560 1:247418258-247418258
44 NLRP3 NM_004895.4(NLRP3):c.2191C>A (p.Arg731=)SNV Likely benign 296949 rs148590318 1:247592921-247592921 1:247429619-247429619
45 NLRP3 NM_004895.4(NLRP3):c.-116T>CSNV Likely benign 296934 rs202234129 1:247581981-247581981 1:247418679-247418679
46 NLRP3 NM_004895.4(NLRP3):c.404-5C>TSNV Likely benign 296943 rs200459664 1:247587144-247587144 1:247423842-247423842
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.209T>C (p.Met70Thr)SNV Likely benign 296940 rs147559626 1:247582305-247582305 1:247419003-247419003
49 NLRP3 NM_004895.4(NLRP3):c.-225G>ASNV Likely benign 296932 rs138900557 1:247581872-247581872 1:247418570-247418570
50 NLRP3 NM_004895.4(NLRP3):c.403+7G>ASNV Benign/Likely benign 296942 rs192297357 1:247586658-247586658 1:247423356-247423356

UniProtKB/Swiss-Prot genetic disease variations for Cinca Syndrome:

73 (show all 20)
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Asp305Asn VAR_014105 rs121908153
2 NLRP3 p.Phe311Ser VAR_014106 rs121908154
3 NLRP3 p.Phe575Ser VAR_014108 rs121908152
4 NLRP3 p.Thr350Met VAR_014366 rs151344629
5 NLRP3 p.His360Arg VAR_014367 rs180177434
6 NLRP3 p.Thr438Asn VAR_014368 rs180177433
7 NLRP3 p.Met664Thr VAR_014370 rs180177435
8 NLRP3 p.Tyr861Cys VAR_023551 rs180177452
9 NLRP3 p.Ile174Thr VAR_043679 rs180177449
10 NLRP3 p.Arg262Leu VAR_043680 rs180177442
11 NLRP3 p.Arg262Pro VAR_043681 rs180177442
12 NLRP3 p.Leu266His VAR_043682 rs180177436
13 NLRP3 p.Asp305Gly VAR_043683 rs180177447
14 NLRP3 p.Gln308Lys VAR_043684 rs180177432
15 NLRP3 p.Glu356Asp VAR_043686 rs180177444
16 NLRP3 p.Thr407Pro VAR_043687 rs180177445
17 NLRP3 p.Thr438Ile VAR_043688 rs180177433
18 NLRP3 p.Phe525Leu VAR_043690 rs180177439
19 NLRP3 p.Tyr572Cys VAR_043691 rs180177438
20 NLRP3 p.Leu634Phe VAR_043692 rs180177446

Expression for Cinca Syndrome

Search GEO for disease gene expression data for Cinca Syndrome.

Pathways for Cinca Syndrome

Pathways related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
2
Show member pathways
13.28 TNFRSF1A NOD2 IL1RN IL1R1 IL1B IL18
3
Show member pathways
13 TNFRSF1A PYCARD NOD2 NLRP7 NLRP3 NLRP12
4
Show member pathways
12.77 TNFRSF1A PYCARD NLRP3 IL1B IL18 CASP1
5
Show member pathways
12.69 PYCARD IL1B IL18 CASP1 AIM2
6 12.5 TNFRSF1A NLRP1 IL1RN IL1B AIM2
7
Show member pathways
12.28 NOD2 IL1RN IL1R1 IL1B CASP1
8 12.23 TNFRSF1A PYCARD NLRP3 NLRC4 IL1R1 IL1B
9 12.22 TNFRSF1A PYCARD NLRP3 IL1R1 IL1B IL18
10
Show member pathways
12.18 TNFRSF1A PYCARD NLRP3 IL1B CASP1
11 12.17 TNFRSF1A NOD2 IL1B IL18
12
Show member pathways
12.15 IL1RN IL1R1 IL1B IL18
13
Show member pathways
12.14 PYCARD NLRP3 IL1B CASP1
14 11.96 PYCARD NLRP3 MEFV IL1B IL18 CASP1
15
Show member pathways
11.87 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
16 11.83 PYCARD NLRC4 IL1B IL18 CASP1
17 11.82 TNFRSF1A IL1R1 IL1B
18 11.77 IL1R1 IL1B IL18 CCR6
19 11.74 PYCARD NLRP3 IL1B CASP1
20 11.69 PYCARD PSTPIP1 NOD2 NLRP7 NLRP3 NLRP12
21 11.64 IL1RN IL1B IL18
22 11.61 PYCARD NLRC4 IL1B IL18 CASP1
23 11.52 TNFRSF1A IL1RN IL1R1 IL1B IL18
24 11.35 PYCARD NOD2 NLRP7 NLRP3 NLRP12 NLRP1
25 11.21 NLRP3 IL1R1 IL1B IL18
26 11.12 NLRP1 IL1B IL18 CASP1
27 10.56 IL1B IL18 CASP1

GO Terms for Cinca Syndrome

Cellular components related to Cinca Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.21 PYCARD PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
2 NLRP3 inflammasome complex GO:0072559 9.33 PYCARD NLRP3 CASP1
3 inflammasome complex GO:0061702 9.32 NLRP3 NLRP1
4 IPAF inflammasome complex GO:0072557 9.26 NLRC4 CASP1
5 AIM2 inflammasome complex GO:0097169 9.13 PYCARD CASP1 AIM2
6 NLRP1 inflammasome complex GO:0072558 8.8 PYCARD NLRP1 CASP1

Biological processes related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.23 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 10.12 IL1RN IL1R1 IL1B IL18 CCR6 AIM2
5 innate immune response GO:0045087 10.08 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
6 regulation of apoptotic process GO:0042981 10.04 PYCARD NOD2 NLRP1 NLRC4 CASP1
7 defense response to bacterium GO:0042742 10 TNFRSF1A NOD2 NLRP1 NLRC4
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10 TNFRSF1A NOD2 IL1RN IL1B CASP1
9 cytokine-mediated signaling pathway GO:0019221 9.98 TNFRSF1A IL1RN IL1RAPL2 IL1R1 IL1B IL18
10 negative regulation of inflammatory response GO:0050728 9.96 TNFRSF1A NLRP3 NLRP12 MVK MEFV
11 interleukin-1-mediated signaling pathway GO:0070498 9.93 NOD2 IL1RN IL1R1 IL1B
12 positive regulation of inflammatory response GO:0050729 9.92 TNFRSF1A NLRP12 IL1B IL18
13 positive regulation of JNK cascade GO:0046330 9.92 PYCARD NOD2 IL1RN IL1B
14 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.91 PYCARD NLRP3 NLRP12 AIM2
15 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.9 NOD2 NLRP12 IL1B IL18
16 positive regulation of interleukin-6 production GO:0032755 9.89 PYCARD NOD2 IL1RN IL1B
17 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.88 PYCARD NLRP3 NLRP1 CASP1
18 cellular response to lipopolysaccharide GO:0071222 9.87 PYCARD NOD2 NLRP7 NLRP3 IL1RN IL1B
19 cellular response to mechanical stimulus GO:0071260 9.86 TNFRSF1A IL1B CASP1
20 cellular response to organic cyclic compound GO:0071407 9.85 NOD2 IL1B IL18
21 positive regulation of interferon-gamma production GO:0032729 9.85 PYCARD IL1R1 IL1B IL18
22 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.85 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 CASP1
23 activation of innate immune response GO:0002218 9.81 PYCARD NLRC4 AIM2
24 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.8 PYCARD NLRP7 MEFV
25 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.76 PYCARD NLRP12 NLRC4
26 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.74 PYCARD MEFV AIM2
27 regulation of inflammatory response GO:0050727 9.73 PYCARD NOD2 NLRP3 NLRP1 IL1R1 CASP1
28 positive regulation of interleukin-1 beta production GO:0032731 9.71 PYCARD NOD2 CASP1 AIM2
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 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.7 PYCARD NOD2 NLRP3 NLRC4 IL1B IL18
32 response to muramyl dipeptide GO:0032495 9.69 NOD2 NLRP1
33 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.69 IL1B IL18
34 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.69 IL1R1 IL1B IL18
35 pyroptosis GO:0070269 9.68 NLRC4 AIM2
36 interleukin-1 beta secretion GO:0050702 9.68 NLRC4 AIM2
37 detection of bacterium GO:0016045 9.68 NOD2 NLRC4
38 regulation of establishment of endothelial barrier GO:1903140 9.67 TNFRSF1A IL1B
39 positive regulation of T-helper 2 cell differentiation GO:0045630 9.67 NLRP3 IL18
40 interleukin-6 production GO:0032635 9.67 IL1B IL18
41 interleukin-1 beta production GO:0032611 9.67 PYCARD NLRP3 IL1B
42 cellular response to peptidoglycan GO:0071224 9.66 NOD2 NLRP3
43 positive regulation of type 2 immune response GO:0002830 9.66 NOD2 NLRP3
44 cytokine secretion involved in immune response GO:0002374 9.65 NOD2 NLRP3
45 detection of biotic stimulus GO:0009595 9.65 NOD2 NLRP3
46 positive regulation of interleukin-1 beta secretion GO:0050718 9.56 PYCARD NOD2 NLRP7 NLRP3 NLRP12 NLRP1
47 inflammatory response GO:0006954 9.4 TNFRSF1A PYCARD PSTPIP1 NLRP3 NLRP1 NLRC4

Molecular functions related to Cinca Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 TNFRSF1A PYCARD PSTPIP1 NOD2 NLRP7 NLRP3
2 identical protein binding GO:0042802 9.76 PYCARD PSTPIP1 NLRP3 NLRC4 MVK MEFV
3 CARD domain binding GO:0050700 9.43 NOD2 CASP1
4 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 PYCARD CASP1
5 interleukin-1 receptor binding GO:0005149 9.37 IL1RN IL1B
6 interleukin-1 binding GO:0019966 9.32 NLRP7 IL1R1
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 Cinca 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
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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