MCID: CNC002
MIFTS: 62

Cinca Syndrome

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

Aliases & Classifications for Cinca Syndrome

MalaCards integrated aliases for Cinca Syndrome:

Name: Cinca Syndrome 53 12 49 24 55 71 13 51 14 37
Cinca 53 49 24 71
Nomid 53 49 24 71
Chronic Infantile Neurological Cutaneous Articular Syndrome 12 49 55
Neonatal Onset Multisystem Inflammatory Disease 49 24 71
Cryopyrin-Associated Periodic Syndrome 3 53 12 71
Prieur-Griscelli Syndrome 12 24 55
Iomid Syndrome 12 24 55
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 24 28
Chronic Neurologic Cutaneous and Articular Syndrome 53 12
Multisystem Inflammatory Disease, Neonatal-Onset 53 49
Infantile-Onset Multisystem Inflammatory Disease 12 55
Infantile Onset Multisystem Inflammatory Disease 49 24
Neonatal-Onset Multisystem Inflammatory Disease 12 55
Cryopyrin-Associated Periodic Syndromes 41 69
Nomid Syndrome 12 55
Caps3 53 71
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 69
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome 72
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 24
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 71
Multisystem Inflammatory Disease, Neonatal-Onset; Nomid 53
Chronic Neurologic, Cutaneous, and Articular Syndrome 24
Cryopyrin-Associated Periodic Syndrome 3; Caps3 53
Prieur Griscelli Syndrome 49
Iomid 49

Characteristics:

Orphanet epidemiological data:

55
cinca syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, neonatal to 3 years


HPO:

31
cinca syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cinca Syndrome

NIH Rare Diseases : 49 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 cinca, is related to cryopyrin-associated periodic syndrome and systemic onset juvenile idiopathic arthritis, 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 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 Synthetic lethal with MLN4924 (a NAE inhibitor)

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.

Genetics Home Reference : 24 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 : 53 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 : 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.

Wikipedia : 72 Neonatal-onset multisystem inflammatory disease (abbreviated NOMID, also known as chronic infantile... 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 71)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 31.9 IL1R1 IL1RN NLRP3
2 systemic onset juvenile idiopathic arthritis 31.3 IL1B MEFV
3 muckle-wells syndrome 30.7 CASP1 IL1B IL1R1 MEFV NLRP3
4 papilledema 30.3 IL1R1 NLRP3
5 familial cold autoinflammatory syndrome 1 29.9 CASP1 IL1B IL1R1 MEFV NLRP3
6 cold urticaria 10.4 IL1R1 NLRP3
7 psoriatic juvenile idiopathic arthritis 10.3 MEFV NLRP3
8 erysipeloid 10.3 MEFV NLRP3
9 pyoderma 10.2 IL1R1 MEFV
10 vulvovaginal candidiasis 10.2 IL1RN NLRP3
11 neisseria meningitidis infection 10.2 IL1R1 IL1RN
12 exanthem 10.2 IL1RN NLRP3
13 paratyphoid fever 10.2 CASP1 IL1R1
14 relapsing fever 10.2 MEFV MVK
15 hyper-igd syndrome 10.1 IL1RN MVK
16 legionnaires' disease 10.1 CASP1 NLRC4
17 legionellosis 10.0 CASP1 NLRC4
18 brucellosis 10.0 IL1RN MEFV
19 ocular hypertension 10.0
20 hydrocephalus 10.0
21 periodic fever, familial, autosomal dominant 10.0 MEFV MVK NLRP3
22 pyoderma gangrenosum 10.0 MEFV MVK NLRP3
23 gastric cancer, hereditary diffuse 9.9 IL1B IL1RN
24 pharyngitis 9.9 IL1B MEFV
25 cerebral artery occlusion 9.9 IL1B IL1RN
26 palindromic rheumatism 9.9 IL1B MEFV
27 osteosclerotic myeloma 9.9 IL1B IL1RN
28 meningococcemia 9.9 IL1B IL1RN
29 arthropathy 9.9
30 root resorption 9.8 IL1B IL1RN
31 dengue shock syndrome 9.8 IL1B IL1RN
32 posterior uveitis 9.8
33 uveitis 9.8
34 retinitis 9.8
35 pericarditis 9.8 IL1B MEFV
36 idiopathic neutropenia 9.8 IL1B IL1RN
37 somatoform disorder 9.8 IL1B IL1RN
38 gastric ulcer 9.8 IL1B IL1RN
39 chorioamnionitis 9.8 IL1B IL1R1
40 peptic ulcer disease 9.7 IL1B IL1RN
41 silicosis 9.7 IL1B IL1RN NLRP3
42 bone inflammation disease 9.7 IL1B IL1RN NLRP3
43 aggressive periodontitis 9.7 IL1B IL1RN
44 pneumoconiosis 9.7 IL1B NLRP3
45 joint disorders 9.7 IL1B IL1R1 IL1RN
46 autoinflammation, lipodystrophy, and dermatosis syndrome 9.7 IL1B IL1R1 IL1RN
47 juvenile rheumatoid arthritis 9.7 IL1B IL1R1 IL1RN
48 typhoid fever 9.6 CASP1 IL1B
49 salmonellosis 9.6 CASP1 IL1B
50 pulmonary fibrosis, idiopathic 9.6 IL1B IL1R1 IL1RN

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:

53
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

Human phenotypes related to Cinca Syndrome:

55 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003326
4 edema 55 31 frequent (33%) Frequent (79-30%) HP:0000969
5 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
6 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
7 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
8 joint dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0001373
9 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
10 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
11 eeg abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0002353
12 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
13 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
14 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
15 increased intracranial pressure 55 31 hallmark (90%) Very frequent (99-80%) HP:0002516
16 skeletal dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0002652
17 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
18 blindness 55 31 occasional (7.5%) Occasional (29-5%) HP:0000618
19 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
20 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
21 growth delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001510
22 migraine 55 31 hallmark (90%) Very frequent (99-80%) HP:0002076
23 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
24 purpura 55 31 occasional (7.5%) Occasional (29-5%) HP:0000979
25 leukocytosis 55 31 frequent (33%) Frequent (79-30%) HP:0001974
26 meningitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001287
27 urticaria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001025
28 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
29 abnormality of neutrophils 55 31 hallmark (90%) Very frequent (99-80%) HP:0001874
30 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034
31 elevated c-reactive protein level 55 31 hallmark (90%) Very frequent (99-80%) HP:0011227
32 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
33 premature birth 55 31 occasional (7.5%) Occasional (29-5%) HP:0001622
34 uveitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000554
35 retrobulbar optic neuritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100654
36 elevated erythrocyte sedimentation rate 55 31 hallmark (90%) Very frequent (99-80%) HP:0003565
37 pseudopapilledema 55 31 hallmark (90%) Very frequent (99-80%) HP:0000538
38 delayed closure of the anterior fontanelle 55 31 frequent (33%) Frequent (79-30%) HP:0001476
39 hearing impairment 55 Very frequent (99-80%)
40 visual impairment 55 Frequent (79-30%)
41 abnormality of thrombocytes 55 Frequent (79-30%)
42 inflammatory abnormality of the eye 55 Very frequent (99-80%)
43 abnormal joint morphology 55 Frequent (79-30%)
44 progressive sensorineural hearing impairment 31 HP:0000408
45 abnormality of granulocytes 55 Very frequent (99-80%)
46 abnormal thrombocyte morphology 31 frequent (33%) HP:0001872

UMLS symptoms related to Cinca Syndrome:


recurrent fevers

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

25
# 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:

43
# 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 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
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)
# 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, Investigational 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 14)

# 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 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

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 NLRP3

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

38
Skin, Brain, Spinal Cord, Bone, Eye, Neutrophil, Pancreas

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show all 27)
# Title Authors Year
1
Correction to: Yuki Harada et al., CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 29219639 )
2018
2
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. ( 27927236 )
2016
3
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 27320017 )
2016
4
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. ( 26585548 )
2015
5
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 25867226 )
2015
6
Neonatal treatment of CINCA syndrome. ( 25584041 )
2014
7
CINCA syndrome in an infant presenting with hydrocephalus. ( 24618115 )
2014
8
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. ( 22723549 )
2012
9
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. ( 22333493 )
2012
10
Post-inflammatory retinal dystrophy in CINCA syndrome. ( 19424698 )
2010
11
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. ( 20005004 )
2010
12
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 21686518 )
2009
13
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. ( 19890791 )
2009
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
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. ( 17891446 )
2008
17
CINCA Syndrome. ( 18175851 )
2007
18
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 17179131 )
2007
19
Anakinra in mutation-negative CINCA syndrome. ( 16440135 )
2007
20
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. ( 17473513 )
2007
21
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. ( 17244662 )
2007
22
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. ( 16920754 )
2007
23
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. ( 16449034 )
2006
24
Hydrocephalus in CINCA syndrome treated with anakinra. ( 16525848 )
2006
25
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. ( 16100350 )
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
27
Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 15671048 )
2005

Variations for Cinca Syndrome

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

71 (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

ClinVar genetic disease variations for Cinca Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
2 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
3 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
4 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
2
Show member pathways
12.53 CASP1 IL1B NLRP3 PYCARD
3
Show member pathways
12.38 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
4
Show member pathways
12.07 CASP1 IL1B IL1R1 IL1RN
5
Show member pathways
11.98 CASP1 IL1B NLRP3 PYCARD
6 11.82 CASP1 NLRC4 PYCARD
7
Show member pathways
11.61 CASP1 MEFV NLRC4 NLRP3 PYCARD
8 11.6 CASP1 IL1B NLRC4 PYCARD
9
Show member pathways
11.57 CASP1 IL1B
10 11.5 CASP1 IL1B NLRP3 PYCARD
11 11.34 IL1B IL1R1 IL1RN
12 11.3 CASP1 IL1B NLRC4 PYCARD
13
Show member pathways
11.2 IL1B IL1R1
14 10.98 IL1B IL1R1 NLRP3
15 10.89 CASP1 IL1B
16 10.71 CASP1 IL1B MEFV NLRC4 NLRP3 PYCARD
17 10.34 CASP1 IL1B

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 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 25)
# 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 9.87 MEFV NLRC4 NLRP3 PYCARD
3 immune system process GO:0002376 9.86 MEFV NLRC4 NLRP3 PYCARD
4 regulation of apoptotic process GO:0042981 9.8 CASP1 NLRC4 PYCARD
5 cellular response to lipopolysaccharide GO:0071222 9.71 CASP1 NLRP3 PYCARD
6 negative regulation of inflammatory response GO:0050728 9.69 MEFV MVK NLRP3
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 IL1B NLRC4 NLRP3 PYCARD
8 positive regulation of interleukin-6 production GO:0032755 9.62 IL1B PYCARD
9 positive regulation of interferon-gamma production GO:0032729 9.61 IL1B PYCARD
10 cellular response to organic substance GO:0071310 9.61 CASP1 IL1B
11 response to bacterium GO:0009617 9.6 CASP1 PYCARD
12 positive regulation of phagocytosis GO:0050766 9.59 IL1B PYCARD
13 positive regulation of interleukin-6 secretion GO:2000778 9.58 IL1B PYCARD
14 activation of innate immune response GO:0002218 9.58 NLRC4 PYCARD
15 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.58 CASP1 NLRP3 PYCARD
16 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.56 CASP1 NLRC4 NLRP3 PYCARD
17 response to ATP GO:0033198 9.55 CASP1 IL1B
18 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.52 NLRC4 PYCARD
19 positive regulation of interleukin-1 beta secretion GO:0050718 9.5 CASP1 NLRP3 PYCARD
20 pyroptosis GO:0070269 9.49 CASP1 NLRC4
21 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.46 MEFV PYCARD
22 regulation of inflammatory response GO:0050727 9.46 CASP1 IL1R1 NLRP3 PYCARD
23 fever generation GO:0001660 9.43 IL1B IL1RN
24 inflammatory response GO:0006954 9.43 IL1B IL1RN MEFV NLRC4 NLRP3 PYCARD
25 interleukin-1 beta production GO:0032611 8.92 CASP1 IL1B NLRP3 PYCARD

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

# 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 9.1 CASP1 MEFV MVK NLRC4 NLRP3 PYCARD
4 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.96 CASP1 PYCARD

Sources for Cinca Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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