MCID: CNC002
MIFTS: 61

Cinca Syndrome

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

Aliases & Classifications for Cinca Syndrome

MalaCards integrated aliases for Cinca Syndrome:

Name: Cinca Syndrome 54 12 50 24 25 56 71 13 52 14 38
Nomid 50 24 25 71
Chronic Infantile Neurological Cutaneous Articular Syndrome 12 50 56
Neonatal-Onset Multisystem Inflammatory Disease 12 24 56
Neonatal Onset Multisystem Inflammatory Disease 50 25 71
Prieur-Griscelli Syndrome 12 25 56
Iomid Syndrome 12 25 56
Cinca 50 25 71
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 25 29
Infantile-Onset Multisystem Inflammatory Disease 12 56
Infantile Onset Multisystem Inflammatory Disease 50 25
Cryopyrin-Associated Periodic Syndrome 3 12 71
Cryopyrin-Associated Periodic Syndromes 42 69
Nomid Syndrome 12 56
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 69
Chronic Infantile Neurological Cutaneous and Articular Syndrome 24
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 25
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 71
Chronic Neurologic, Cutaneous, and Articular Syndrome 25
Chronic Neurologic Cutaneous and Articular Syndrome 12
Multisystem Inflammatory Disease, Neonatal-Onset 50
Prieur Griscelli Syndrome 50
Iomid 50
Caps3 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, neonatal to 3 years


Classifications:



Summaries for Cinca Syndrome

NIH Rare Diseases : 50 chronic infantile neurologic cutaneous articular (cinca) syndrome is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. individuals with cinca syndrome 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. cinca syndrome 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 cinca syndrome 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. last updated: 10/25/2016

MalaCards based summary : Cinca Syndrome, also known as nomid, is related to familial cold-induced inflammatory syndrome 1 and muckle-wells syndrome, and has symptoms including migraine, hepatomegaly and splenomegaly. 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 Influenza A. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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)

Disease Ontology : 12 A hypersensitivity reaction type II 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.

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 77)
id Related Disease Score Top Affiliating Genes
1 familial cold-induced inflammatory syndrome 1 29.7 CASP1 IL1B IL1R1 MEFV NLRP3
2 muckle-wells syndrome 28.2 CASP1 IL1B IL1R1 MEFV NLRP3
3 cryopyrin-associated periodic syndrome 11.0
4 collagenous gastritis 10.6 IL1R1 NLRP3
5 prostatitis 10.6 IL1R1 NLRP3
6 ptosis coloboma mental retardation 10.5 MEFV NLRP3
7 adiaspiromycosis 10.5 MEFV NLRP3
8 myopathy 10.4 IL1R1 MEFV
9 neonatal meningitis 10.4 IL1R1 IL1RN
10 early congenital syphilis 10.3 IL1RN NLRP3
11 vagina leiomyosarcoma 10.3 IL1RN MEFV
12 mechanical lagophthalmos 10.3 MEFV MVK
13 pyrimidine metabolic disorder 10.3 IL1RN MEFV
14 porokeratosis 3, multiple types 10.2 IL1RN MVK
15 common cold 10.2 CASP1 NLRC4
16 crystal arthropathies 10.1 IL1R1 IL1RN NLRP3
17 nasopharyngitis 10.1 CASP1 NLRC4
18 esophagus melanoma 10.1 IL1RN MEFV
19 aseptic meningitis 10.0
20 meningitis 10.0
21 wells syndrome 10.0
22 multiple sclerosis 5 10.0 MEFV MVK NLRP3
23 tabatznik syndrome 10.0 IL1B MEFV
24 lip cancer 10.0 MEFV MVK NLRP3
25 hyper-igd syndrome 9.9 IL1RN MVK NLRP3
26 gastric cancer risk after h. pylori infection 9.9 IL1B IL1RN
27 ocular hypertension 9.9
28 patau syndrome 9.9 IL1B MEFV
29 hydrocephalus 9.9
30 indolent myeloma 9.9 IL1B IL1RN
31 mental retardation dysmorphism hypogonadism diabetes 9.9 IL1B IL1RN
32 pseudopapilledema 9.9
33 arthropathy 9.9
34 glossitis 9.8 IL1B IL1RN
35 askin's tumor 9.8 IL1B IL1RN
36 osmotic diarrhea 9.8 IL1B IL1RN
37 pancreas lymphoma 9.8 IL1B MEFV
38 placenta accreta 9.8 IL1B IL1RN
39 iida kannari syndrome 9.8 IL1B IL1RN
40 tibialis tendinitis 9.8 IL1B IL1RN
41 neonatal period electroclinical syndrome 9.8 IL1B IL1R1
42 posterior uveitis 9.7
43 uveitis 9.7
44 papilledema 9.7
45 retinitis 9.7
46 extrahepatic bile duct papillary adenoma 9.7 IL1B IL1RN
47 congenital nystagmus 9.7 IL1B MEFV NLRP3
48 sinusitis 9.6 IL1B IL1RN NLRP3
49 autosomal recessive type iv ehlers-danlos syndrome 9.6 IL1B IL1RN
50 asbestosis 9.6 IL1B NLRP3

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



Diseases related to Cinca Syndrome

Symptoms & Phenotypes for Cinca Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
growth retardation

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

Head And Neck- Head:
frontal bossing

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

Human phenotypes related to Cinca Syndrome:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 migraine 56 32 hallmark (90%) Very frequent (99-80%) HP:0002076
2 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
3 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
4 anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001903
5 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
6 premature birth 56 32 occasional (7.5%) Occasional (29-5%) HP:0001622
7 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
8 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
9 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
10 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
11 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 blindness 56 32 occasional (7.5%) Occasional (29-5%) HP:0000618
13 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
14 purpura 56 32 occasional (7.5%) Occasional (29-5%) HP:0000979
15 fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001945
16 lymphadenopathy 56 32 frequent (33%) Frequent (79-30%) HP:0002716
17 edema 56 32 frequent (33%) Frequent (79-30%) HP:0000969
18 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
19 skeletal dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002652
20 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
21 leukocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001974
22 urticaria 56 32 hallmark (90%) Very frequent (99-80%) HP:0001025
23 uveitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000554
24 joint dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0001373
25 meningitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001287
26 increased intracranial pressure 56 32 hallmark (90%) Very frequent (99-80%) HP:0002516
27 growth delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001510
28 pseudopapilledema 56 32 hallmark (90%) Very frequent (99-80%) HP:0000538
29 elevated erythrocyte sedimentation rate 56 32 hallmark (90%) Very frequent (99-80%) HP:0003565
30 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
31 eeg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0002353
32 reduced bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0004349
33 abnormality of thrombocytes 56 32 frequent (33%) Frequent (79-30%) HP:0001872
34 abnormality of neutrophils 56 32 hallmark (90%) Very frequent (99-80%) HP:0001874
35 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
36 elevated c-reactive protein level 56 32 hallmark (90%) Very frequent (99-80%) HP:0011227
37 retrobulbar optic neuritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100654
38 delayed closure of the anterior fontanelle 56 32 frequent (33%) Frequent (79-30%) HP:0001476
39 visual impairment 56 Frequent (79-30%)
40 brachydactyly 32 hallmark (90%) HP:0001156
41 hearing impairment 56 Very frequent (99-80%)
42 brachydactyly syndrome 56 Very frequent (99-80%)
43 inflammatory abnormality of the eye 56 Very frequent (99-80%)
44 abnormal joint morphology 56 Frequent (79-30%)
45 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 9.28 CASP1 IL1B NLRP3 PYCARD
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 CASP1 IL1B NLRC4 NLRP3 PYCARD

MGI Mouse Phenotypes related to Cinca Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.76 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
2 immune system MP:0005387 9.56 NLRC4 NLRP3 PYCARD CASP1 IL1B IL1R1
3 integument MP:0010771 9.1 CASP1 IL1B IL1R1 IL1RN MEFV NLRP3

Drugs & Therapeutics for Cinca Syndrome

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

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3
4 Vaccines Phase 3
5 Antirheumatic Agents Phase 1, Phase 2
6 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2
7
Pancrelipase Approved 53608-75-6
8
Secretin Approved, Investigational 108153-74-8
9 Vitamins
10 Gastrointestinal Agents
11 Hormone Antagonists
12 Hormones
13 Hormones, Hormone Substitutes, and Hormone Antagonists
14 pancreatin

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
2 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
3 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
4 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
5 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
6 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
7 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
8 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
9 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
10 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Unknown status NCT01919359
11 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
12 Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress Disorder Completed NCT01517672
13 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
14 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
15 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

Search NIH Clinical Center for Cinca Syndrome

Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Cinca Syndrome

Genetic tests related to Cinca Syndrome:

id Genetic test Affiliating Genes
1 Chronic Infantile Neurological, Cutaneous and Articular Syndrome 29
2 Chronic Infantile Neurological Cutaneous and Articular Syndrome 24 NLRP3

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

39
Skin, Brain, Spinal Cord, Bone, Eye, Pancreas, Neutrophil

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show all 26)
id Title Authors Year
1
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. ( 27927236 )
2016
2
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 27320017 )
2016
3
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. ( 26585548 )
2015
4
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 25867226 )
2015
5
Neonatal treatment of CINCA syndrome. ( 25584041 )
2014
6
CINCA syndrome in an infant presenting with hydrocephalus. ( 24618115 )
2014
7
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. ( 22723549 )
2012
8
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. ( 22333493 )
2012
9
Post-inflammatory retinal dystrophy in CINCA syndrome. ( 19424698 )
2010
10
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. ( 20005004 )
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
Anesthesia in an infant with a CINCA syndrome. ( 18312510 )
2008
15
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. ( 18558058 )
2008
16
Anakinra in mutation-negative CINCA syndrome. ( 16440135 )
2007
17
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. ( 17244662 )
2007
18
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 17179131 )
2007
19
CINCA Syndrome. ( 18175851 )
2007
20
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. ( 16920754 )
2007
21
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. ( 17473513 )
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:

71 (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 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
2
Show member pathways
12.52 CASP1 IL1B NLRP3 PYCARD
3
Show member pathways
12.39 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
4
Show member pathways
12.04 CASP1 IL1B IL1R1 IL1RN
5 11.81 CASP1 NLRC4 PYCARD
6
Show member pathways
11.61 CASP1 MEFV NLRC4 NLRP3 PYCARD
7 11.6 CASP1 IL1B NLRC4 PYCARD
8
Show member pathways
11.56 CASP1 IL1B
9 11.5 CASP1 IL1B NLRP3 PYCARD
10 11.32 IL1B IL1R1 IL1RN
11 11.3 CASP1 IL1B NLRC4 PYCARD
12
Show member pathways
11.19 IL1B IL1R1
13 10.98 IL1B IL1R1 NLRP3
14 10.88 CASP1 IL1B
15 10.71 CASP1 IL1B MEFV NLRC4 NLRP3 PYCARD
16 10.32 CASP1 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 cytoplasm GO:0005737 9.97 CASP1 IL1B IL1RN MEFV MVK NLRC4
2 extracellular region GO:0005576 9.8 CASP1 IL1B IL1R1 IL1RN NLRP3 PYCARD
3 AIM2 inflammasome complex GO:0097169 9.26 CASP1 PYCARD
4 IPAF inflammasome complex GO:0072557 9.16 CASP1 NLRC4
5 NLRP1 inflammasome complex GO:0072558 8.96 CASP1 PYCARD
6 NLRP3 inflammasome complex GO:0072559 8.8 CASP1 NLRP3 PYCARD

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.88 CASP1 IL1B NLRC4 NLRP3 PYCARD
2 innate immune response GO:0045087 9.86 MEFV NLRC4 NLRP3 PYCARD
3 immune system process GO:0002376 9.84 MEFV NLRC4 NLRP3 PYCARD
4 regulation of apoptotic process GO:0042981 9.79 CASP1 NLRC4 PYCARD
5 negative regulation of inflammatory response GO:0050728 9.69 MEFV MVK NLRP3
6 regulation of inflammatory response GO:0050727 9.63 CASP1 IL1R1 NLRP3
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.62 IL1B NLRC4 NLRP3 PYCARD
8 positive regulation of interleukin-6 production GO:0032755 9.61 IL1B PYCARD
9 positive regulation of interferon-gamma production GO:0032729 9.6 IL1B PYCARD
10 cellular response to organic substance GO:0071310 9.59 CASP1 IL1B
11 positive regulation of phagocytosis GO:0050766 9.58 IL1B PYCARD
12 positive regulation of interleukin-6 secretion GO:2000778 9.58 IL1B PYCARD
13 activation of innate immune response GO:0002218 9.57 NLRC4 PYCARD
14 response to ATP GO:0033198 9.55 CASP1 IL1B
15 cellular response to lipopolysaccharide GO:0071222 9.52 NLRP3 PYCARD
16 pyroptosis GO:0070269 9.49 CASP1 NLRC4
17 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.46 CASP1 NLRC4 NLRP3 PYCARD
18 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.43 MEFV PYCARD
19 positive regulation of interleukin-1 beta secretion GO:0050718 9.43 CASP1 NLRP3 PYCARD
20 inflammatory response GO:0006954 9.43 IL1B IL1RN MEFV NLRC4 NLRP3 PYCARD
21 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.37 NLRP3 PYCARD
22 fever generation GO:0001660 9.1 IL1B
23 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

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

id Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 9.26 IL1B IL1RN
2 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.16 CASP1 PYCARD
3 identical protein binding GO:0042802 8.92 MVK NLRC4 NLRP3 PYCARD
4 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.65 PYCARD

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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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