CINCA
MCID: CNC002
MIFTS: 55

Cinca Syndrome (CINCA) malady

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

Aliases & Classifications for Cinca Syndrome

Aliases & Descriptions for Cinca Syndrome:

Name: Cinca Syndrome 54 56 66 13 52
Cryopyrin-Associated Periodic Syndromes 42 69
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 69
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 66
Chronic Infantile Neurological Cutaneous Articular Syndrome 56
Infantile-Onset Multisystem Inflammatory Disease 56
Neonatal-Onset Multisystem Inflammatory Disease 56
Neonatal Onset Multisystem Inflammatory Disease 66
Cryopyrin-Associated Periodic Syndrome 3 66
Prieur-Griscelli Syndrome 56
Iomid Syndrome 56
Nomid Syndrome 56
Cinca 66
Nomid 66
Caps3 66

Characteristics:

Orphanet epidemiological data:

56
cinca syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 607115
Orphanet 56 ORPHA1451
ICD10 via Orphanet 34 E85.0
MedGen 40 C0409818
MeSH 42 D056587

Summaries for Cinca Syndrome

OMIM : 54 Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early... (607115) more...

MalaCards based summary : Cinca Syndrome, also known as cryopyrin-associated periodic syndromes, is related to cryopyrin-associated periodic syndrome and familial cold-induced inflammatory syndrome 1, and has symptoms including arthralgia, fatigue and myalgia. 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 Ritonavir have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

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.

UniProtKB/Swiss-Prot : 66 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.

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 66)
id Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 11.2
2 familial cold-induced inflammatory syndrome 1 10.9
3 prostatitis 10.2 IL1R1 NLRP3
4 pulmonary artery coming from the aorta 10.2 MEFV NLRP3
5 invasive aspergillosis 10.2 MEFV NLRP3
6 coloboma of optic papilla 10.2 IL1R1 IL1RAPL2 NLRP3
7 cutaneous sclerosis 10.1 IL1R1 IL1RN NLRP3
8 gonadal disease 10.1 IL1RN NLRP3
9 oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies 10.0 MEFV TNFRSF1A
10 hepatocellular carcinoma 10.0 IL1B IL1RN
11 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 10.0 MEFV TNFRSF1A
12 deafness, autosomal recessive 25 10.0 NLRP3 TNFRSF1A
13 laryngotracheoesophageal cleft type 2 10.0 IL18 IL1B
14 malignant perineurioma 10.0 MEFV TNFRSF1A
15 stomatitis 10.0 IL18 IL1RN
16 chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included 10.0 CASP1 IL1B PYCARD
17 malignant histiocytosis 10.0 IL1R1 MEFV MVK NLRP3
18 senile cataract 10.0 IL1B MEFV NLRP3
19 amelanotic melanoma 10.0 CASP1 IL1B NLRP3
20 dextrocardia 10.0 IL1B IL1RN
21 skin conditions 10.0 IL1B IL1RN NLRP3
22 juvenile amyotrophic lateral sclerosis with dementia 9.9 CASP1 TNFRSF1A
23 steroid dehydrogenase deficiency dental anomalies 9.9 IL18 IL1B
24 bazex syndrome 9.9 IL1RN TNFRSF1A
25 bone angioendothelial sarcoma 9.9 IL1B IL1RN NLRP3
26 tau syndrome 9.9 IL18 IL1B MEFV
27 bacterial conjunctivitis 9.9 IL18 TNFRSF1A
28 candidiasis, familial, 4, autosomal recessive 9.9 MEFV MVK TNFRSF1A
29 hydrocephalus 9.9
30 mechanical lagophthalmos 9.9 MEFV MVK TNFRSF1A
31 cerebrum cancer 9.9 IL1B TNFRSF1A
32 isolated growth hormone deficiency 9.9 CASP1 IL18 IL1B
33 retinal cancer 9.9 IL1B MEFV MVK NLRP3
34 classic type lipoma 9.9 CASP1 IL1B IL1RN
35 gastric leiomyoma 9.9 IL18 IL1B
36 meier-gorlin syndrome 3 9.9 IL1B MEFV MVK NLRP3
37 warthin tumor 9.9 IL1B IL1R1 IL1RN NLRP3
38 senile reticular retinal degeneration 9.9 IL1B IL1R1 IL1RN NLRP3
39 synovium cancer 9.8 IL18 IL1B IL1RN
40 kidney leiomyosarcoma 9.8 IL1RN MEFV TNFRSF1A
41 primrose syndrome 9.8 IL1RN TNFRSF1A
42 immunodeficiency 9 9.8 IL1RN MVK TNFRSF1A
43 keratoconus 9.8 IL1B IL1R1 IL1RAPL2 IL1RN
44 gonococcal endophthalmia 9.8 IL1B IL1RN MEFV NLRP3
45 porokeratosis 3, disseminated superficial actinic 9.8 IL1B IL1RN MVK NLRP3
46 patau syndrome 9.8 IL1B MEFV TNFRSF1A
47 pancreas lymphoma 9.8 IL1B MEFV TNFRSF1A
48 mental retardation hypotonia skin hyperpigmentation 9.8 IL1B IL1RN
49 posterior uveitis 9.7
50 uveitis 9.7

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



Diseases related to Cinca Syndrome

Symptoms & Phenotypes for Cinca Syndrome

Clinical features from OMIM:

607115

Human phenotypes related to Cinca Syndrome:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 edema 56 32 Frequent (79-30%) HP:0000969
5 fever 56 32 Very frequent (99-80%) HP:0001945
6 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
7 macrocephaly 56 32 Frequent (79-30%) HP:0000256
8 joint dislocation 56 32 Frequent (79-30%) HP:0001373
9 frontal bossing 56 32 Frequent (79-30%) HP:0002007
10 intellectual disability 56 32 Occasional (29-5%) HP:0001249
11 eeg abnormality 56 32 Occasional (29-5%) HP:0002353
12 global developmental delay 56 32 Occasional (29-5%) HP:0001263
13 splenomegaly 56 32 Frequent (79-30%) HP:0001744
14 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
15 increased intracranial pressure 56 32 Very frequent (99-80%) HP:0002516
16 skeletal dysplasia 56 32 Frequent (79-30%) HP:0002652
17 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
18 blindness 56 32 Occasional (29-5%) HP:0000618
19 anemia 56 32 Frequent (79-30%) HP:0001903
20 reduced bone mineral density 56 32 Occasional (29-5%) HP:0004349
21 growth delay 56 32 Occasional (29-5%) HP:0001510
22 migraine 56 32 Very frequent (99-80%) HP:0002076
23 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
24 purpura 56 32 Occasional (29-5%) HP:0000979
25 abnormality of thrombocytes 56 32 Frequent (79-30%) HP:0001872
26 leukocytosis 56 32 Frequent (79-30%) HP:0001974
27 meningitis 56 32 Very frequent (99-80%) HP:0001287
28 urticaria 56 32 Very frequent (99-80%) HP:0001025
29 proptosis 56 32 Frequent (79-30%) HP:0000520
30 abnormality of neutrophils 56 32 Very frequent (99-80%) HP:0001874
31 papule 56 32 Very frequent (99-80%) HP:0200034
32 elevated c-reactive protein level 56 32 Very frequent (99-80%) HP:0011227
33 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
34 premature birth 56 32 Occasional (29-5%) HP:0001622
35 uveitis 56 32 Very frequent (99-80%) HP:0000554
36 retrobulbar optic neuritis 56 32 Occasional (29-5%) HP:0100654
37 elevated erythrocyte sedimentation rate 56 32 Very frequent (99-80%) HP:0003565
38 pseudopapilledema 56 32 Very frequent (99-80%) HP:0000538
39 delayed closure of the anterior fontanelle 56 32 Frequent (79-30%) HP:0001476
40 hearing impairment 56 Very frequent (99-80%)
41 visual impairment 56 Frequent (79-30%)
42 inflammatory abnormality of the eye 56 Very frequent (99-80%)
43 abnormal joint morphology 56 Frequent (79-30%)
44 abnormality of granulocytes 56 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Cinca Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 CASP1 IL18 IL1B NLRP3 PYCARD TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 CASP1 IL18 IL1B NLRP3 PYCARD TNFRSF1A

MGI Mouse Phenotypes related to Cinca Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
2 homeostasis/metabolism MP:0005376 9.91 IL18 IL1B IL1R1 IL1RN MEFV NLRP3
3 immune system MP:0005387 9.81 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
4 integument MP:0010771 9.56 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
5 neoplasm MP:0002006 9.02 CASP1 IL1B IL1R1 PYCARD TNFRSF1A

Drugs & Therapeutics for Cinca Syndrome

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

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ginseng Approved, Nutraceutical Phase 4 50647-08-0
2
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
3
Tenofovir Approved, Investigational Phase 3 147127-20-6 464205
4
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
5
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
6
Maraviroc Approved, Investigational Phase 3 376348-65-1 3002977
7
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
8
Darunavir Approved Phase 3 635728-49-3, 206361-99-1 213039
9 Dolutegravir Approved Phase 3 1051375-16-6 54726191
10 Vaccines Phase 3
11 Immunoglobulins Phase 3,Phase 2
12 Antibodies, Monoclonal Phase 3,Phase 2
13 Antibodies Phase 3,Phase 2
14 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
15 Antirheumatic Agents Phase 1, Phase 2
16
Secretin Approved, Investigational 108153-74-8
17
Pancrelipase Approved 53608-75-6
18 Vitamins
19 pancreatin
20 Gastrointestinal Agents
21 Hormone Antagonists
22 Hormones
23 Hormones, Hormone Substitutes, and Hormone Antagonists
24
protease inhibitors
25 HIV Protease Inhibitors
26 Cytochrome P-450 CYP3A Inhibitors
27 Cytochrome P-450 Enzyme Inhibitors
28 Nucleic Acid Synthesis Inhibitors
29 Anti-HIV Agents
30 Anti-Infective Agents
31 Anti-Retroviral Agents
32 Reverse Transcriptase Inhibitors
33 Atazanavir Sulfate
34 Antiviral Agents

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4
2 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Recruiting NCT02645916 Phase 4
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
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
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
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
7 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
8 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
9 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3
10 Impact of Extremely Early Antiretroviral Therapy to Reduce VIral REservoir and Induce Functional CURE of HIV-1 Infection Recruiting NCT02588820 Phase 3
11 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Not yet recruiting NCT03083522 Phase 3
12 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3
13 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2
14 Efficacy and Safety of Canakinumab in Schnitzler Syndrome Completed NCT01276522 Phase 2
15 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2
16 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2
17 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2
18 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2
19 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1
20 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Unknown status NCT00933296
21 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Unknown status NCT01919359
22 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
23 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906
24 Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress Disorder Completed NCT01517672
25 Kineret CAPS Post Authorisation Study Recruiting NCT02326376
26 Phenomics in Autoimmune and Inflammatory Diseases Recruiting NCT02466217
27 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
28 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
29 Simplification From Tenofovir Plus Lamivudine or Emtricitabine Plus Ritonavir-Boosted-Protease Inhibitor to Ritonavir-Boosted-Atazanavir Plus Lamivudine in Virologically-Suppressed-HIVInfected Adults With Osteopenia Recruiting NCT02652793
30 NT-proBNP in the Management of Discharged Patients With Acutely Decompensated Heart Failure and Preserved Ejection Fraction Recruiting NCT02807168

Search NIH Clinical Center for Cinca Syndrome

Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Cinca Syndrome

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

39
Skin, Bone, Eye, Neutrophil

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show all 26)
id Title Authors Year
1
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 27320017 )
2016
2
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. ( 27927236 )
2016
3
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 25867226 )
2015
4
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. ( 26585548 )
2015
5
Neonatal treatment of CINCA syndrome. ( 25584041 )
2014
6
CINCA syndrome in an infant presenting with hydrocephalus. ( 24618115 )
2014
7
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. ( 22333493 )
2012
8
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. ( 22723549 )
2012
9
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. ( 20005004 )
2010
10
Post-inflammatory retinal dystrophy in CINCA syndrome. ( 19424698 )
2010
11
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 21686518 )
2009
12
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. ( 19890791 )
2009
13
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. ( 17891446 )
2008
14
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. ( 18558058 )
2008
15
Anesthesia in an infant with a CINCA syndrome. ( 18312510 )
2008
16
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. ( 17473513 )
2007
17
CINCA Syndrome. ( 18175851 )
2007
18
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. ( 16920754 )
2007
19
Anakinra in mutation-negative CINCA syndrome. ( 16440135 )
2007
20
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 17179131 )
2007
21
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. ( 17244662 )
2007
22
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. ( 16449034 )
2006
23
Hydrocephalus in CINCA syndrome treated with anakinra. ( 16525848 )
2006
24
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. ( 16100350 )
2005
25
Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 15671048 )
2005
26
Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased tumour necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with CINCA syndrome. ( 16284353 )
2005

Variations for Cinca Syndrome

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

66 (show all 20)
id 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

ClinVar genetic disease variations for Cinca Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
2 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
3 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677

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 28)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
2
Show member pathways
13.14 CASP1 IL18 IL1B IL1R1 IL1RN TNFRSF1A
3
Show member pathways
13.09 CASP1 IL18 IL1B IL1R1 TNFRSF1A
4
Show member pathways
12.6 CASP1 IL18 IL1B NLRP3 PYCARD TNFRSF1A
5
Show member pathways
12.59 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
6
Show member pathways
12.54 CASP1 IL18 IL1B PYCARD
7 12.51 CASP1 IL1B IL1R1 TNFRSF1A
8
Show member pathways
12.44 CASP1 IL1B IL1R1 TNFRSF1A
9
Show member pathways
12.12 CASP1 IL1B IL1R1 IL1RN
10 12.05 IL18 IL1B TNFRSF1A
11 11.91 IL1B IL1R1 TNFRSF1A
12 11.86 IL1B IL1R1 TNFRSF1A
13
Show member pathways
11.86 CASP1 MEFV NLRP3 PYCARD
14
Show member pathways
11.8 IL18 IL1B IL1R1
15 11.71 IL1B IL1R1 TNFRSF1A
16 11.69 CASP1 IL18 IL1B PYCARD
17
Show member pathways
11.65 CASP1 IL1B
18 11.62 IL18 IL1B IL1R1
19 11.59 CASP1 IL1B NLRP3 PYCARD
20 11.41 CASP1 IL18 IL1B PYCARD
21 11.18 IL18 IL1B
22 11.13 IL18 IL1B
23 11.04 IL18 IL1B IL1R1 IL1RN TNFRSF1A
24 11 CASP1 IL18 IL1B
25 10.96 IL18 IL1B IL1R1 NLRP3
26 10.91 IL18 IL1R1
27 10.71 CASP1 IL18 IL1B MEFV NLRP3 PYCARD
28 10.34 CASP1 IL18 IL1B

GO Terms for Cinca Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 CASP1 IL18 IL1B IL1R1 IL1RN NLRP3
2 AIM2 inflammasome complex GO:0097169 9.26 CASP1 PYCARD
3 NLRP1 inflammasome complex GO:0072558 9.16 CASP1 PYCARD
4 NLRP3 inflammasome complex GO:0072559 8.8 CASP1 NLRP3 PYCARD

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.93 CASP1 IL1B NLRP3 PYCARD TNFRSF1A
2 immune response GO:0006955 9.8 IL18 IL1B IL1R1 IL1RN TNFRSF1A
3 response to lipopolysaccharide GO:0032496 9.79 CASP1 IL1B TNFRSF1A
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.77 CASP1 IL1B TNFRSF1A
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.74 IL1B NLRP3 PYCARD
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.7 CASP1 NLRP3 PYCARD
7 cellular response to mechanical stimulus GO:0071260 9.67 CASP1 IL1B TNFRSF1A
8 cellular response to organic substance GO:0071310 9.63 CASP1 IL1B
9 lipopolysaccharide-mediated signaling pathway GO:0031663 9.63 IL18 IL1B
10 regulation of inflammatory response GO:0050727 9.63 CASP1 IL1R1 NLRP3
11 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.62 PYCARD TNFRSF1A
12 cytokine-mediated signaling pathway GO:0019221 9.62 IL1B IL1R1 IL1RAPL2 TNFRSF1A
13 positive regulation of phagocytosis GO:0050766 9.61 IL1B PYCARD
14 positive regulation of activated T cell proliferation GO:0042104 9.61 IL18 PYCARD
15 positive regulation of NF-kappaB import into nucleus GO:0042346 9.59 IL18 IL1B
16 positive regulation of interleukin-6 secretion GO:2000778 9.58 IL1B PYCARD
17 response to ATP GO:0033198 9.58 CASP1 IL1B
18 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.56 IL18 IL1B
19 positive regulation of interferon-gamma production GO:0032729 9.54 IL18 IL1B PYCARD
20 positive regulation of T-helper 2 cell differentiation GO:0045630 9.51 IL18 NLRP3
21 regulation of establishment of endothelial barrier GO:1903140 9.48 IL1B TNFRSF1A
22 negative regulation of inflammatory response GO:0050728 9.46 MEFV MVK NLRP3 TNFRSF1A
23 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.43 MEFV PYCARD
24 positive regulation of interleukin-1 beta secretion GO:0050718 9.43 CASP1 NLRP3 PYCARD
25 inflammatory response GO:0006954 9.17 IL18 IL1B IL1RN MEFV NLRP3 PYCARD
26 interleukin-1 beta production GO:0032611 9.13 CASP1 IL1B NLRP3
27 signal transduction GO:0007165 10.09 CASP1 IL1B IL1R1 IL1RAPL2 NLRP3 PYCARD

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 IL18 IL1B IL1RN
2 interleukin-1 receptor binding GO:0005149 9.16 IL1B IL1RN
3 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.96 CASP1 PYCARD
4 interleukin-1 receptor activity GO:0004908 8.62 IL1R1 IL1RAPL2

Sources for Cinca Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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