CINCA
MCID: CNC002
MIFTS: 64

Cinca Syndrome (CINCA)

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

Aliases & Classifications for Cinca Syndrome

MalaCards integrated aliases for Cinca Syndrome:

Name: Cinca Syndrome 58 12 54 26 60 76 13 56 15 39
Cinca 58 54 26 76
Nomid 58 54 26 76
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 26 30 6
Chronic Infantile Neurological Cutaneous Articular Syndrome 12 54 60
Neonatal Onset Multisystem Inflammatory Disease 54 26 76
Cryopyrin-Associated Periodic Syndrome 3 58 12 76
Prieur-Griscelli Syndrome 12 26 60
Iomid Syndrome 12 26 60
Chronic Neurologic Cutaneous and Articular Syndrome 58 12
Multisystem Inflammatory Disease, Neonatal-Onset 58 54
Infantile-Onset Multisystem Inflammatory Disease 12 60
Infantile Onset Multisystem Inflammatory Disease 54 26
Neonatal-Onset Multisystem Inflammatory Disease 12 60
Cryopyrin-Associated Periodic Syndromes 45 74
Nomid Syndrome 12 60
Caps3 58 76
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 74
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome 77
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 26
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 76
Multisystem Inflammatory Disease, Neonatal-Onset; Nomid 58
Chronic Neurologic, Cutaneous, and Articular Syndrome 26
Cryopyrin-Associated Periodic Syndrome 3; Caps3 58
Prieur Griscelli Syndrome 54
Cinca Syndrome ) 41
Iomid 54

Characteristics:

Orphanet epidemiological data:

60
cinca syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, neonatal to 3 years


HPO:

33
cinca syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cinca Syndrome

NIH Rare Diseases : 54 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.

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 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 PEDF Induced Signaling. The drugs Topiramate and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, 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.

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 101)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 32.3 IL1R1 IL1RN NLRP3
2 systemic onset juvenile idiopathic arthritis 31.9 IL18 MEFV
3 muckle-wells syndrome 31.0 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
4 familial cold autoinflammatory syndrome 1 30.2 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
5 amyloidosis 30.2 MEFV NLRP3 TNFRSF1A
6 mevalonic aciduria 30.2 IL1RN MVK NLRP3
7 exanthem 30.1 IL1RN NLRP3
8 aseptic meningitis 30.0 IL1B IL1R1 IL1RN NLRP3
9 joint disorders 29.8 IL1B IL1R1 IL1RN
10 arthritis 29.7 IL18 IL1B IL1RN
11 juvenile rheumatoid arthritis 29.6 IL18 IL1B IL1R1 IL1RN
12 periodic fever, familial, autosomal dominant 29.5 MEFV MVK NLRP3 TNFRSF1A
13 wells syndrome 29.3 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
14 rheumatoid arthritis 28.8 IL18 IL1B IL1R1 IL1RN TNFRSF1A
15 adult-onset still's disease 28.5 IL18 IL1B IL1R1 IL1RN MEFV TNFRSF1A
16 familial mediterranean fever 28.1 CASP1 IL1B IL1RN MEFV MVK NLRP3
17 catastrophic antiphospholipid syndrome 11.5
18 pyoderma 10.3 IL1R1 MEFV
19 cold urticaria 10.3 IL1R1 NLRP3
20 psoriatic juvenile idiopathic arthritis 10.3 MEFV NLRP3
21 erysipeloid 10.3 MEFV NLRP3
22 urticaria 10.2
23 amyloidosis aa 10.2
24 meningitis 10.2
25 tinea favosa 10.2 CASP1 NLRP3
26 juvenile ankylosing spondylitis 10.2 IL1RN MEFV
27 neisseria meningitidis infection 10.2 IL1R1 IL1RN
28 hydrocephalus 10.1
29 uveitis 10.1
30 pericardium disease 10.1 IL1RN MEFV
31 keratitis, hereditary 10.1
32 stromal keratitis 10.1
33 pyoderma gangrenosum 10.1 MEFV MVK NLRP3
34 autoinflammation with arthritis and dyskeratosis 10.1 CASP1 IL18
35 keratoendotheliitis fugax hereditaria 10.1
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
37 cardiac arrest 10.1
38 sensorineural hearing loss 10.1
39 optic papillitis 10.1
40 nephrotic syndrome 10.1
41 choreatic disease 10.1
42 rapidly involuting congenital hemangioma 10.1
43 pseudopapilledema 10.1
44 meningoencephalitis 10.1
45 subdural empyema 10.1
46 pleural empyema 10.1
47 necrotizing fasciitis 10.0 IL18 IL1RN
48 osteosclerotic myeloma 10.0 IL1B IL1RN
49 inflammatory myopathy with abundant macrophages 10.0 MEFV TNFRSF1A
50 intermittent hydrarthrosis 10.0 MEFV TNFRSF1A

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:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 increased intracranial pressure 60 33 hallmark (90%) Very frequent (99-80%) HP:0002516
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
5 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
6 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
7 migraine 60 33 hallmark (90%) Very frequent (99-80%) HP:0002076
8 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
9 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
10 meningitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001287
11 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
12 abnormality of neutrophils 60 33 hallmark (90%) Very frequent (99-80%) HP:0001874
13 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
14 elevated c-reactive protein level 60 33 hallmark (90%) Very frequent (99-80%) HP:0011227
15 uveitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000554
16 elevated erythrocyte sedimentation rate 60 33 hallmark (90%) Very frequent (99-80%) HP:0003565
17 pseudopapilledema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000538
18 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
19 joint dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001373
20 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
21 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
22 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
23 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
24 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
25 edema 60 33 frequent (33%) Frequent (79-30%) HP:0000969
26 leukocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0001974
27 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
28 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
29 delayed closure of the anterior fontanelle 60 33 frequent (33%) Frequent (79-30%) HP:0001476
30 abnormal thrombocyte morphology 33 frequent (33%) HP:0001872
31 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
32 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
33 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
34 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
35 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
36 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
37 purpura 60 33 occasional (7.5%) Occasional (29-5%) HP:0000979
38 premature birth 60 33 occasional (7.5%) Occasional (29-5%) HP:0001622
39 retrobulbar optic neuritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100654
40 hearing impairment 60 Very frequent (99-80%)
41 arthritis 33 HP:0001369
42 visual impairment 60 Frequent (79-30%)
43 abnormality of thrombocytes 60 Frequent (79-30%)
44 inflammatory abnormality of the eye 60 Very frequent (99-80%)
45 abnormal joint morphology 60 Frequent (79-30%)
46 progressive sensorineural hearing impairment 33 HP:0000408
47 abnormality of granulocytes 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 CASP1 IL18 IL1B NLRP3 PYCARD TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 CASP1 IL18 IL1B NLRP3 PYCARD TNFRSF1A

MGI Mouse Phenotypes related to Cinca Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
2 cellular MP:0005384 10.03 CASP1 IL18 IL1R1 IL1RN MEFV NLRC4
3 growth/size/body region MP:0005378 10.01 IL18 IL1B IL1R1 IL1RN MEFV NLRP3
4 homeostasis/metabolism MP:0005376 9.97 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
5 immune system MP:0005387 9.96 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
6 integument MP:0010771 9.76 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
7 neoplasm MP:0002006 9.35 CASP1 IL1B IL1R1 PYCARD TNFRSF1A
8 skeleton MP:0005390 9.17 IL1B IL1R1 IL1RN MEFV NLRC4 NLRP3

Drugs & Therapeutics for Cinca Syndrome

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4 97240-79-4 5284627
2 Hypoglycemic Agents Phase 4
3 Anticonvulsants Phase 4
4 Immunologic Factors Phase 3
5 Antibodies, Monoclonal Phase 3
6 Antibodies Phase 3
7 Immunoglobulins Phase 3
8 Vaccines Phase 3
9
Rilonacept Approved, Investigational Phase 2 501081-76-1 104924
10 Antirheumatic Agents Phase 1, Phase 2
11 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2,Phase 2
12 Anti-Inflammatory Agents Phase 2
13
Secretin Approved 108153-74-8
14
Pancrelipase Approved, Investigational 53608-75-6
15 Gastrointestinal Agents
16 pancreatin
17 Hormones, Hormone Substitutes, and Hormone Antagonists
18 Hormones
19 Hormone Antagonists
20 Vitamins Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Placebo Controled Clinical Trial Using Topiramate To Treat Posttraumatic Stress Disorder (PTSD) Patients. Completed NCT00725920 Phase 4 Topiramate;placebo control group
2 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
3 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)
4 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
5 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
6 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
7 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)
8 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
9 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
10 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
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 Not Applicable
13 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
14 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Completed NCT01919359 Not Applicable
15 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641

Search NIH Clinical Center for Cinca Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 NLRP3

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

42
Skin, Bone, Brain, Spinal Cord, Eye, Neutrophil, Pancreas

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show top 50) (show all 53)
# 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
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade. ( 29766377 )
2018
3
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 25867226 )
2017
4
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. ( 26585548 )
2016
5
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 27320017 )
2016
6
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. ( 27927236 )
2016
7
Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy. ( 26316056 )
2015
8
Successful Treatment of CINCA/NOMID Syndrome with Interleukin-1 Blockade. ( 26234003 )
2015
9
CINCA syndrome in an infant presenting with hydrocephalus. ( 24618115 )
2014
10
Neonatal treatment of CINCA syndrome. ( 25584041 )
2014
11
Failure of tocilizumab treatment in a CINCA patient: clinical and pathogenic implications. ( 23481539 )
2013
12
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. ( 22333493 )
2012
13
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. ( 22723549 )
2012
14
Long-term response after 6-year treatment with anakinra and onset of focal bone erosion in neonatal-onset multisystem inflammatory disease (NOMID/CINCA). ( 21240490 )
2011
15
Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. ( 21538043 )
2011
16
Effect of anakinra on arthropathy in CINCA/NOMID syndrome. ( 20230645 )
2010
17
Post-inflammatory retinal dystrophy in CINCA syndrome. ( 19424698 )
2010
18
Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. ( 20889617 )
2010
19
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. ( 20005004 )
2010
20
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. ( 19890791 )
2009
21
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 21686518 )
2009
22
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. ( 17891446 )
2008
23
Anesthesia in an infant with a CINCA syndrome. ( 18312510 )
2008
24
A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation. ( 17684747 )
2008
25
Spatial variation of DDT and its metabolites in fish and sediment from Cinca River, a tributary of Ebro River (Spain). ( 17910971 )
2008
26
Levels and distribution of DDT in the Cinca River (Spain). ( 18605385 )
2008
27
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. ( 18609262 )
2008
28
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. ( 18558058 )
2008
29
Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). ( 17136361 )
2007
30
Anakinra in mutation-negative CINCA syndrome. ( 16440135 )
2007
31
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. ( 16920754 )
2007
32
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 17179131 )
2007
33
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. ( 17244662 )
2007
34
CINCA Syndrome. ( 18175851 )
2007
35
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. ( 17473513 )
2007
36
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. ( 16449034 )
2006
37
Hydrocephalus in CINCA syndrome treated with anakinra. ( 16525848 )
2006
38
Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 15671048 )
2005
39
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. ( 16100350 )
2005
40
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
41
Brominated flame retardants in Alburnus alburnus from Cinca River Basin (Spain). ( 15519725 )
2005
42
The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide. ( 16134734 )
2005
43
Anakinra in mutation-negative NOMID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel. ( 15529342 )
2004
44
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. ( 14630794 )
2004
45
Occurrence and bioavailability of polybrominated diphenyl ethers and hexabromocyclododecane in sediment and fish from the Cinca River, a tributary of the Ebro River (Spain). ( 15180056 )
2004
46
Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome. ( 14690147 )
2003
47
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. ( 12930324 )
2003
48
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. ( 11992256 )
2002
49
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. ( 12032915 )
2002
50
The CINCA syndrome: a rare cause of chronic arthritis and multisystem inflammatory disorders. ( 11196366 )
2000

Variations for Cinca Syndrome

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

76 (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 (show top 50) (show all 144)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh37 Chromosome 1, 247587343: 247587343
2 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh38 Chromosome 1, 247424041: 247424041
3 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
4 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh38 Chromosome 1, 247425167: 247425167
5 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
6 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
7 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677
8 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh38 Chromosome 1, 247424375: 247424375
9 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh37 Chromosome 1, 247587809: 247587809
10 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh38 Chromosome 1, 247424507: 247424507
11 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh37 Chromosome 1, 247587783: 247587783
12 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh38 Chromosome 1, 247424481: 247424481
13 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh37 Chromosome 1, 247587982: 247587982
14 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh38 Chromosome 1, 247424680: 247424680
15 NLRP3 NM_001243133.1(NLRP3): c.1374C> T (p.His458=) single nucleotide variant Likely benign rs180177481 GRCh37 Chromosome 1, 247588125: 247588125
16 NLRP3 NM_001243133.1(NLRP3): c.1374C> T (p.His458=) single nucleotide variant Likely benign rs180177481 GRCh38 Chromosome 1, 247424823: 247424823
17 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh37 Chromosome 1, 247588140: 247588140
18 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh38 Chromosome 1, 247424838: 247424838
19 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh37 Chromosome 1, 247588351: 247588351
20 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh38 Chromosome 1, 247425049: 247425049
21 NLRP3 NM_001243133.1(NLRP3): c.587G> A (p.Ser196Asn) single nucleotide variant Likely benign rs180177459 GRCh37 Chromosome 1, 247587338: 247587338
22 NLRP3 NM_001243133.1(NLRP3): c.587G> A (p.Ser196Asn) single nucleotide variant Likely benign rs180177459 GRCh38 Chromosome 1, 247424036: 247424036
23 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh37 Chromosome 1, 247587695: 247587695
24 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh38 Chromosome 1, 247424393: 247424393
25 NLRP3 NM_001079821.2(NLRP3): c.-39+51G> A single nucleotide variant Likely benign rs199475727 GRCh37 Chromosome 1, 247581643: 247581643
26 NLRP3 NM_001079821.2(NLRP3): c.-39+51G> A single nucleotide variant Likely benign rs199475727 GRCh38 Chromosome 1, 247418341: 247418341
27 NLRP3 NM_004895.4(NLRP3): c.213C> T (p.Ala71=) single nucleotide variant Benign/Likely benign rs200082602 GRCh37 Chromosome 1, 247582309: 247582309
28 NLRP3 NM_004895.4(NLRP3): c.213C> T (p.Ala71=) single nucleotide variant Benign/Likely benign rs200082602 GRCh38 Chromosome 1, 247419007: 247419007
29 NLRP3 NM_004895.4(NLRP3): c.732G> A (p.Ala244=) single nucleotide variant Benign rs3806268 GRCh37 Chromosome 1, 247587477: 247587477
30 NLRP3 NM_004895.4(NLRP3): c.732G> A (p.Ala244=) single nucleotide variant Benign rs3806268 GRCh38 Chromosome 1, 247424175: 247424175
31 NLRP3 NM_004895.4(NLRP3): c.1050G> A (p.Thr350=) single nucleotide variant Benign/Likely benign rs143140947 GRCh37 Chromosome 1, 247587795: 247587795
32 NLRP3 NM_004895.4(NLRP3): c.1050G> A (p.Thr350=) single nucleotide variant Benign/Likely benign rs143140947 GRCh38 Chromosome 1, 247424493: 247424493
33 NLRP3 NM_004895.4(NLRP3): c.1590C> T (p.Ala530=) single nucleotide variant Conflicting interpretations of pathogenicity rs201644343 GRCh37 Chromosome 1, 247588335: 247588335
34 NLRP3 NM_004895.4(NLRP3): c.1590C> T (p.Ala530=) single nucleotide variant Conflicting interpretations of pathogenicity rs201644343 GRCh38 Chromosome 1, 247425033: 247425033
35 NLRP3 NM_004895.4(NLRP3): c.1926C> T (p.Phe642=) single nucleotide variant Benign/Likely benign rs34698071 GRCh37 Chromosome 1, 247588671: 247588671
36 NLRP3 NM_004895.4(NLRP3): c.1926C> T (p.Phe642=) single nucleotide variant Benign/Likely benign rs34698071 GRCh38 Chromosome 1, 247425369: 247425369
37 NLRP3 NM_004895.4(NLRP3): c.2124C> T (p.Leu708=) single nucleotide variant Conflicting interpretations of pathogenicity rs149493236 GRCh37 Chromosome 1, 247588869: 247588869
38 NLRP3 NM_004895.4(NLRP3): c.2124C> T (p.Leu708=) single nucleotide variant Conflicting interpretations of pathogenicity rs149493236 GRCh38 Chromosome 1, 247425567: 247425567
39 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh38 Chromosome 1, 247424192: 247424192
40 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh37 Chromosome 1, 247587494: 247587494
41 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
42 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
43 NLRP3 NM_004895.4(NLRP3): c.2790A> C (p.Lys930Asn) single nucleotide variant Uncertain significance rs876660975 GRCh38 Chromosome 1, 247444092: 247444092
44 NLRP3 NM_004895.4(NLRP3): c.2790A> C (p.Lys930Asn) single nucleotide variant Uncertain significance rs876660975 GRCh37 Chromosome 1, 247607394: 247607394
45 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh38 Chromosome 1, 247444069: 247444069
46 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh37 Chromosome 1, 247607371: 247607371
47 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh37 Chromosome 1, 247607973: 247607973
48 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh38 Chromosome 1, 247444671: 247444671
49 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Conflicting interpretations of pathogenicity rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
50 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Conflicting interpretations of pathogenicity rs117287351 GRCh37 Chromosome 1, 247582310: 247582310

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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CASP1 IL18 IL1B IL1R1 IL1RN MEFV
2
Show member pathways
13.48 CASP1 IL18 IL1B IL1R1 IL1RN TNFRSF1A
3
Show member pathways
13.17 CASP1 IL18 IL1B IL1R1 IL1RN TNFRSF1A
4
Show member pathways
13.11 CASP1 IL18 IL1B IL1R1 TNFRSF1A
5
Show member pathways
12.79 CASP1 IL18 IL1B MEFV NLRC4 NLRP3
6 12.61 CASP1 IL1B IL1R1 TNFRSF1A
7
Show member pathways
12.6 CASP1 IL18 IL1B PYCARD
8
Show member pathways
12.46 CASP1 IL1B IL1R1 TNFRSF1A
9
Show member pathways
12.17 CASP1 IL1B IL1R1 IL1RN
10
Show member pathways
12.09 IL18 IL1B IL1R1 IL1RN
11
Show member pathways
12.09 CASP1 IL1B NLRP3 PYCARD TNFRSF1A
12 12.08 IL18 IL1B TNFRSF1A
13
Show member pathways
12.08 CASP1 IL1B NLRP3 PYCARD
14 11.95 IL1B IL1R1 TNFRSF1A
15
Show member pathways
11.93 CASP1 IL18 IL1B IL1R1 TNFRSF1A
16 11.91 CASP1 NLRC4 PYCARD
17
Show member pathways
11.9 IL18 IL1B IL1R1
18 11.89 IL1B IL1R1 TNFRSF1A
19
Show member pathways
11.86 CASP1 MEFV NLRC4 NLRP3 PYCARD
20
Show member pathways
11.83 IL18 IL1B IL1R1
21 11.77 IL1B IL1R1 TNFRSF1A
22 11.66 IL18 IL1B IL1R1
23 11.66 CASP1 IL1B NLRP3 PYCARD
24 11.65 CASP1 IL18 IL1B NLRC4 PYCARD
25 11.59 IL18 IL1B IL1RN
26 11.29 CASP1 IL18 IL1B NLRC4 PYCARD
27 11.23 IL18 IL1B
28 11.16 IL18 IL1B
29 11.07 IL18 IL1B IL1R1 NLRP3
30 11.04 IL18 IL1B IL1R1 IL1RN TNFRSF1A
31 11.03 CASP1 IL18 IL1B
32 10.94 IL18 IL1R1
33 10.78 CASP1 IL18 IL1B MEFV NLRC4 NLRP3
34 10.45 CASP1 IL18 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 extracellular region GO:0005576 9.87 IL18 IL1B IL1R1 IL1RN NLRP3 PYCARD
2 NLRP1 inflammasome complex GO:0072558 9.26 CASP1 PYCARD
3 AIM2 inflammasome complex GO:0097169 9.16 CASP1 PYCARD
4 IPAF inflammasome complex GO:0072557 8.96 CASP1 NLRC4
5 NLRP3 inflammasome complex GO:0072559 8.8 CASP1 NLRP3 PYCARD

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.96 MEFV NLRC4 NLRP3 PYCARD
2 innate immune response GO:0045087 9.95 MEFV NLRC4 NLRP3 PYCARD
3 apoptotic process GO:0006915 9.95 CASP1 IL1B NLRC4 NLRP3 PYCARD TNFRSF1A
4 immune response GO:0006955 9.94 IL18 IL1B IL1R1 IL1RN
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.81 CASP1 IL1B IL1RN TNFRSF1A
6 cellular response to lipopolysaccharide GO:0071222 9.8 CASP1 IL1B IL1RN NLRP3 PYCARD
7 positive regulation of JNK cascade GO:0046330 9.78 IL1B IL1RN PYCARD
8 cellular response to mechanical stimulus GO:0071260 9.77 CASP1 IL1B TNFRSF1A
9 negative regulation of inflammatory response GO:0050728 9.76 MEFV MVK NLRP3 TNFRSF1A
10 regulation of inflammatory response GO:0050727 9.74 IL1R1 NLRP3 PYCARD
11 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.73 CASP1 NLRC4 NLRP3 PYCARD
12 positive regulation of interleukin-6 production GO:0032755 9.72 IL1B IL1RN PYCARD
13 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.72 IL18 IL1B NLRC4 NLRP3 PYCARD
14 interleukin-1-mediated signaling pathway GO:0070498 9.71 IL1B IL1R1 IL1RN
15 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.7 CASP1 NLRP3 PYCARD
16 cellular response to organic substance GO:0071310 9.68 CASP1 IL1B
17 positive regulation of phagocytosis GO:0050766 9.67 IL1B PYCARD
18 lipopolysaccharide-mediated signaling pathway GO:0031663 9.67 IL18 IL1B
19 positive regulation of interleukin-1 beta secretion GO:0050718 9.67 CASP1 NLRP3 PYCARD
20 positive regulation of interferon-gamma production GO:0032729 9.67 IL18 IL1B IL1R1 PYCARD
21 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.66 PYCARD TNFRSF1A
22 positive regulation of activated T cell proliferation GO:0042104 9.65 IL18 PYCARD
23 positive regulation of interleukin-6 secretion GO:2000778 9.65 IL1B PYCARD
24 activation of innate immune response GO:0002218 9.63 NLRC4 PYCARD
25 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.63 MEFV PYCARD
26 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.62 NLRC4 PYCARD
27 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.62 IL18 IL1B
28 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.61 MEFV PYCARD
29 interleukin-6 production GO:0032635 9.59 IL18 IL1B
30 positive regulation of T-helper 2 cell differentiation GO:0045630 9.58 IL18 NLRP3
31 regulation of establishment of endothelial barrier GO:1903140 9.58 IL1B TNFRSF1A
32 positive regulation of neuroinflammatory response GO:0150078 9.56 IL18 IL1B
33 interleukin-1 beta production GO:0032611 9.43 IL1B NLRP3 PYCARD
34 cytokine-mediated signaling pathway GO:0019221 9.43 CASP1 IL18 IL1B IL1R1 IL1RN TNFRSF1A
35 response to interleukin-1 GO:0070555 9.36 IL1R1
36 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.33 IL18 IL1B IL1R1
37 inflammatory response GO:0006954 9.28 IL18 IL1B IL1R1 IL1RN MEFV NLRC4
38 signal transduction GO:0007165 10.12 CASP1 IL1B IL1R1 NLRP3 PYCARD TNFRSF1A

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.54 IL18 IL1B IL1RN
2 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.32 CASP1 PYCARD
3 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.16 CASP1 PYCARD
4 identical protein binding GO:0042802 9.1 CASP1 MEFV MVK NLRC4 NLRP3 PYCARD
5 interleukin-1 receptor binding GO:0005149 8.96 IL1B IL1RN
6 protein binding GO:0005515 10 CASP1 IL18 IL1B IL1R1 IL1RN MEFV

Sources for Cinca Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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