CINCA
MCID: CNC002
MIFTS: 62

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 57 12 53 25 59 75 13 55 15 38
Cinca 57 53 25 75
Nomid 57 53 25 75
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 25 29 6
Chronic Infantile Neurological Cutaneous Articular Syndrome 12 53 59
Neonatal Onset Multisystem Inflammatory Disease 53 25 75
Cryopyrin-Associated Periodic Syndrome 3 57 12 75
Prieur-Griscelli Syndrome 12 25 59
Iomid Syndrome 12 25 59
Chronic Neurologic Cutaneous and Articular Syndrome 57 12
Multisystem Inflammatory Disease, Neonatal-Onset 57 53
Infantile-Onset Multisystem Inflammatory Disease 12 59
Infantile Onset Multisystem Inflammatory Disease 53 25
Neonatal-Onset Multisystem Inflammatory Disease 12 59
Cryopyrin-Associated Periodic Syndromes 44 73
Nomid Syndrome 12 59
Caps3 57 75
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 73
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome 76
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 25
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 75
Multisystem Inflammatory Disease, Neonatal-Onset; Nomid 57
Chronic Neurologic, Cutaneous, and Articular Syndrome 25
Cryopyrin-Associated Periodic Syndrome 3; Caps3 57
Prieur Griscelli Syndrome 53
Cinca Syndrome ) 40
Iomid 53

Characteristics:

Orphanet epidemiological data:

59
cinca syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, neonatal to 3 years


HPO:

32
cinca syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cinca Syndrome

NIH Rare Diseases : 53 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.

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 Toll-like Receptor Signaling Pathway. The drugs Topiramate and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are macrocephaly and joint dislocation

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 : 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 : 57 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 : 75 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 : 76 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 86)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 32.1 IL1R1 IL1RN NLRP3
2 systemic onset juvenile idiopathic arthritis 31.7 IL1RN MEFV
3 muckle-wells syndrome 31.7 CASP1 IL1B IL1R1 MEFV NLRP3
4 familial cold autoinflammatory syndrome 1 30.9 CASP1 IL1B IL1R1 MEFV NLRP3
5 exanthem 30.2 IL1RN NLRP3
6 mevalonic aciduria 30.0 IL1RN MVK NLRP3
7 wells syndrome 29.9 IL1B IL1R1 MEFV NLRP3
8 periodic fever, familial, autosomal dominant 29.9 MEFV MVK NLRP3
9 aseptic meningitis 29.9 IL1B IL1R1 IL1RN NLRP3
10 juvenile rheumatoid arthritis 29.9 IL1B IL1R1 IL1RN
11 familial mediterranean fever 28.8 CASP1 IL1B IL1RN MEFV MVK NLRP3
12 catastrophic antiphospholipid syndrome 11.5
13 amyloidosis 10.3
14 urticaria 10.2
15 amyloidosis aa 10.2
16 meningitis 10.2
17 cold urticaria 10.2 IL1R1 NLRP3
18 pyoderma 10.2 IL1R1 MEFV
19 psoriatic juvenile idiopathic arthritis 10.2 MEFV NLRP3
20 erysipeloid 10.1 MEFV NLRP3
21 hydrocephalus 10.1
22 uveitis 10.1
23 stromal keratitis 10.1
24 neisseria meningitidis infection 10.1 IL1R1 IL1RN
25 rheumatoid arthritis 10.1
26 tinea favosa 10.1 CASP1 NLRP3
27 juvenile ankylosing spondylitis 10.1 IL1RN MEFV
28 paratyphoid fever 10.1 CASP1 IL1R1
29 keratoendotheliitis fugax hereditaria 10.1
30 cardiac arrest 10.1
31 optic papillitis 10.1
32 nephrotic syndrome 10.1
33 relapsing fever 10.1 MEFV MVK
34 pseudopapilledema 10.1
35 meningoencephalitis 10.1
36 subdural empyema 10.1
37 hyper-igd syndrome 10.0 IL1RN MVK
38 pericardium disease 10.0 IL1RN MEFV
39 brucellosis 10.0 IL1RN MEFV
40 pyle disease 10.0
41 arthritis 10.0
42 posterior uveitis 10.0
43 papilledema 10.0
44 arthropathy 10.0
45 fundus dystrophy 10.0
46 gastric cancer, hereditary diffuse 9.9 IL1B IL1RN
47 pharyngitis 9.9 IL1B MEFV
48 osteosclerotic myeloma 9.9 IL1B IL1RN
49 meningococcemia 9.9 IL1B IL1RN
50 palindromic rheumatism 9.9 IL1B MEFV

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:

57
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:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
6 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
7 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
9 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
10 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
11 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
12 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
13 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
14 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
15 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
16 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
17 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
18 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
19 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
20 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
21 migraine 59 32 hallmark (90%) Very frequent (99-80%) HP:0002076
22 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
23 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
24 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
25 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
26 meningitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001287
27 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
28 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
29 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
30 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
31 elevated c-reactive protein level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011227
32 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
33 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
34 uveitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000554
35 retrobulbar optic neuritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100654
36 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
37 pseudopapilledema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000538
38 delayed closure of the anterior fontanelle 59 32 frequent (33%) Frequent (79-30%) HP:0001476
39 hearing impairment 59 Very frequent (99-80%)
40 arthritis 32 HP:0001369
41 visual impairment 59 Frequent (79-30%)
42 abnormality of thrombocytes 59 Frequent (79-30%)
43 inflammatory abnormality of the eye 59 Very frequent (99-80%)
44 abnormal joint morphology 59 Frequent (79-30%)
45 progressive sensorineural hearing impairment 32 HP:0000408
46 abnormality of granulocytes 59 Very frequent (99-80%)
47 abnormal thrombocyte morphology 32 frequent (33%) HP:0001872

UMLS symptoms related to Cinca Syndrome:


recurrent fevers

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.92 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
2 homeostasis/metabolism MP:0005376 9.8 CASP1 IL1B IL1R1 IL1RN MEFV NLRP3
3 immune system MP:0005387 9.76 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
4 integument MP:0010771 9.43 CASP1 IL1B IL1R1 IL1RN MEFV NLRP3
5 skeleton MP:0005390 9.1 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 Protective Agents Phase 4
3 Anticonvulsants Phase 4
4 Anti-Obesity Agents Phase 4
5 Neuroprotective Agents Phase 4
6 Immunoglobulins Phase 3
7 Immunologic Factors Phase 3
8 Antibodies, Monoclonal Phase 3
9 Antibodies Phase 3
10 Vaccines Phase 3
11 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2,Phase 2
12 Antirheumatic Agents Phase 1, Phase 2
13
Secretin Approved 108153-74-8
14
Pancrelipase Approved, Investigational 53608-75-6
15 Gastrointestinal Agents
16 pancreatin
17 Hormone Antagonists
18 Hormones
19 Hormones, Hormone Substitutes, and 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 73 / NDF-RT 51 :


Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Cinca Syndrome

Genetic tests related to Cinca Syndrome:

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

Anatomical Context for Cinca Syndrome

MalaCards organs/tissues related to Cinca Syndrome:

41
Skin, Brain, Spinal Cord, Bone, Eye, Neutrophil

Publications for Cinca Syndrome

Articles related to Cinca Syndrome:

(show all 44)
# 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
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. ( 27927236 )
2016
4
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 27320017 )
2016
5
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. ( 26585548 )
2015
6
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. ( 25867226 )
2015
7
Successful Treatment of CINCA/NOMID Syndrome with Interleukin-1 Blockade. ( 26234003 )
2015
8
CINCA syndrome in an infant presenting with hydrocephalus. ( 24618115 )
2014
9
Neonatal treatment of CINCA syndrome. ( 25584041 )
2014
10
Failure of tocilizumab treatment in a CINCA patient: clinical and pathogenic implications. ( 23481539 )
2013
11
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. ( 22333493 )
2012
12
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. ( 22723549 )
2012
13
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
14
Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. ( 21538043 )
2011
15
Post-inflammatory retinal dystrophy in CINCA syndrome. ( 19424698 )
2010
16
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. ( 20005004 )
2010
17
Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. ( 20889617 )
2010
18
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. ( 19890791 )
2009
19
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 21686518 )
2009
20
Anesthesia in an infant with a CINCA syndrome. ( 18312510 )
2008
21
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. ( 18558058 )
2008
22
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. ( 17891446 )
2008
23
A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation. ( 17684747 )
2008
24
Spatial variation of DDT and its metabolites in fish and sediment from Cinca River, a tributary of Ebro River (Spain). ( 17910971 )
2008
25
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. ( 17244662 )
2007
26
Anakinra in mutation-negative CINCA syndrome. ( 16440135 )
2007
27
CINCA Syndrome. ( 18175851 )
2007
28
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. ( 16920754 )
2007
29
[Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. ( 17473513 )
2007
30
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. ( 17179131 )
2007
31
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. ( 16449034 )
2006
32
Hydrocephalus in CINCA syndrome treated with anakinra. ( 16525848 )
2006
33
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
34
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. ( 16100350 )
2005
35
Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. ( 15671048 )
2005
36
Brominated flame retardants in Alburnus alburnus from Cinca River Basin (Spain). ( 15519725 )
2005
37
Anakinra in mutation-negative NOMID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel. ( 15529342 )
2004
38
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
39
Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome. ( 14690147 )
2003
40
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. ( 12930324 )
2003
41
The CINCA syndrome: a rare cause of chronic arthritis and multisystem inflammatory disorders. ( 11196366 )
2000
42
The CINCA syndrome: a rare cause of uveitis in childhood. ( 8965228 )
1996
43
Mercury concentrations in three species of freshwater fishes from the lower Gállego and Cinca Rivers, Spain. ( 8694878 )
1996
44
A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. ( 3482735 )
1987

Variations for Cinca Syndrome

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

75 (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 132)
# 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.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh37 Chromosome 1, 247587783: 247587783
10 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh38 Chromosome 1, 247424481: 247424481
11 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh37 Chromosome 1, 247587982: 247587982
12 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh38 Chromosome 1, 247424680: 247424680
13 NLRP3 NM_001243133.1(NLRP3): c.1374C> T (p.His458=) single nucleotide variant Likely benign rs180177481 GRCh37 Chromosome 1, 247588125: 247588125
14 NLRP3 NM_001243133.1(NLRP3): c.1374C> T (p.His458=) single nucleotide variant Likely benign rs180177481 GRCh38 Chromosome 1, 247424823: 247424823
15 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh37 Chromosome 1, 247588140: 247588140
16 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh38 Chromosome 1, 247424838: 247424838
17 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh37 Chromosome 1, 247588351: 247588351
18 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh38 Chromosome 1, 247425049: 247425049
19 NLRP3 NM_001243133.1(NLRP3): c.587G> A (p.Ser196Asn) single nucleotide variant Likely benign rs180177459 GRCh37 Chromosome 1, 247587338: 247587338
20 NLRP3 NM_001243133.1(NLRP3): c.587G> A (p.Ser196Asn) single nucleotide variant Likely benign rs180177459 GRCh38 Chromosome 1, 247424036: 247424036
21 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh37 Chromosome 1, 247587695: 247587695
22 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh38 Chromosome 1, 247424393: 247424393
23 NLRP3 NM_001079821.2(NLRP3): c.-39+51G> A single nucleotide variant Likely benign rs199475727 GRCh37 Chromosome 1, 247581643: 247581643
24 NLRP3 NM_001079821.2(NLRP3): c.-39+51G> A single nucleotide variant Likely benign rs199475727 GRCh38 Chromosome 1, 247418341: 247418341
25 NLRP3 NM_004895.4(NLRP3): c.213C> T (p.Ala71=) single nucleotide variant Benign/Likely benign rs200082602 GRCh37 Chromosome 1, 247582309: 247582309
26 NLRP3 NM_004895.4(NLRP3): c.213C> T (p.Ala71=) single nucleotide variant Benign/Likely benign rs200082602 GRCh38 Chromosome 1, 247419007: 247419007
27 NLRP3 NM_004895.4(NLRP3): c.732G> A (p.Ala244=) single nucleotide variant Benign rs3806268 GRCh37 Chromosome 1, 247587477: 247587477
28 NLRP3 NM_004895.4(NLRP3): c.732G> A (p.Ala244=) single nucleotide variant Benign rs3806268 GRCh38 Chromosome 1, 247424175: 247424175
29 NLRP3 NM_004895.4(NLRP3): c.1050G> A (p.Thr350=) single nucleotide variant Benign/Likely benign rs143140947 GRCh37 Chromosome 1, 247587795: 247587795
30 NLRP3 NM_004895.4(NLRP3): c.1050G> A (p.Thr350=) single nucleotide variant Benign/Likely benign rs143140947 GRCh38 Chromosome 1, 247424493: 247424493
31 NLRP3 NM_004895.4(NLRP3): c.1590C> T (p.Ala530=) single nucleotide variant Conflicting interpretations of pathogenicity rs201644343 GRCh37 Chromosome 1, 247588335: 247588335
32 NLRP3 NM_004895.4(NLRP3): c.1590C> T (p.Ala530=) single nucleotide variant Conflicting interpretations of pathogenicity rs201644343 GRCh38 Chromosome 1, 247425033: 247425033
33 NLRP3 NM_004895.4(NLRP3): c.1926C> T (p.Phe642=) single nucleotide variant Benign/Likely benign rs34698071 GRCh37 Chromosome 1, 247588671: 247588671
34 NLRP3 NM_004895.4(NLRP3): c.1926C> T (p.Phe642=) single nucleotide variant Benign/Likely benign rs34698071 GRCh38 Chromosome 1, 247425369: 247425369
35 NLRP3 NM_004895.4(NLRP3): c.2124C> T (p.Leu708=) single nucleotide variant Conflicting interpretations of pathogenicity rs149493236 GRCh37 Chromosome 1, 247588869: 247588869
36 NLRP3 NM_004895.4(NLRP3): c.2124C> T (p.Leu708=) single nucleotide variant Conflicting interpretations of pathogenicity rs149493236 GRCh38 Chromosome 1, 247425567: 247425567
37 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh38 Chromosome 1, 247424192: 247424192
38 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh37 Chromosome 1, 247587494: 247587494
39 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
40 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
41 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh38 Chromosome 1, 247444069: 247444069
42 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh37 Chromosome 1, 247607371: 247607371
43 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh37 Chromosome 1, 247607973: 247607973
44 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh38 Chromosome 1, 247444671: 247444671
45 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
46 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh37 Chromosome 1, 247582310: 247582310
47 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh37 Chromosome 1, 247587408: 247587408
48 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh38 Chromosome 1, 247424106: 247424106
49 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh37 Chromosome 1, 247588053: 247588053
50 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh38 Chromosome 1, 247424751: 247424751

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CASP1 IL1B IL1R1 IL1RN MEFV NLRC4
2
Show member pathways
12.7 CASP1 IL1B MEFV NLRC4 NLRP3 PYCARD
3
Show member pathways
12.54 CASP1 IL1B NLRP3 PYCARD
4
Show member pathways
12.09 CASP1 IL1B IL1R1 IL1RN
5
Show member pathways
12 CASP1 IL1B NLRP3 PYCARD
6
Show member pathways
11.98 IL1B IL1R1 IL1RN
7
Show member pathways
11.97 CASP1 IL1B NLRP3 PYCARD
8 11.83 CASP1 NLRC4 PYCARD
9 11.56 CASP1 IL1B NLRC4 PYCARD
10 11.44 CASP1 IL1B NLRP3 PYCARD
11
Show member pathways
11.41 CASP1 MEFV NLRC4 NLRP3 PYCARD
12 11.36 IL1B IL1R1 IL1RN
13
Show member pathways
11.21 IL1B IL1R1
14 11.2 CASP1 IL1B NLRC4 PYCARD
15 10.98 IL1B IL1R1 NLRP3
16 10.91 CASP1 IL1B
17 10.71 CASP1 IL1B MEFV NLRC4 NLRP3 PYCARD
18 10.37 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 9.92 CASP1 IL1B IL1RN MEFV MVK NLRC4
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 31)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.92 MEFV NLRC4 NLRP3 PYCARD
2 apoptotic process GO:0006915 9.92 CASP1 IL1B NLRC4 NLRP3 PYCARD
3 innate immune response GO:0045087 9.91 MEFV NLRC4 NLRP3 PYCARD
4 cytokine-mediated signaling pathway GO:0019221 9.85 CASP1 IL1B IL1R1 IL1RN
5 regulation of apoptotic process GO:0042981 9.82 CASP1 NLRC4 PYCARD
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.79 CASP1 IL1B IL1RN
7 negative regulation of inflammatory response GO:0050728 9.75 MEFV MVK NLRP3
8 positive regulation of JNK cascade GO:0046330 9.74 IL1B IL1RN PYCARD
9 regulation of inflammatory response GO:0050727 9.71 IL1R1 NLRP3 PYCARD
10 positive regulation of interleukin-6 production GO:0032755 9.67 IL1B IL1RN PYCARD
11 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 IL1B NLRC4 NLRP3 PYCARD
12 cellular response to organic substance GO:0071310 9.65 CASP1 IL1B
13 positive regulation of JUN kinase activity GO:0043507 9.65 IL1B IL1RN
14 positive regulation of phagocytosis GO:0050766 9.64 IL1B PYCARD
15 response to interleukin-1 GO:0070555 9.63 IL1R1 IL1RN
16 positive regulation of interleukin-6 secretion GO:2000778 9.63 IL1B PYCARD
17 interleukin-1-mediated signaling pathway GO:0070498 9.63 IL1B IL1R1 IL1RN
18 activation of innate immune response GO:0002218 9.62 NLRC4 PYCARD
19 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.61 CASP1 NLRP3 PYCARD
20 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.6 MEFV PYCARD
21 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.59 NLRC4 PYCARD
22 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.58 MEFV PYCARD
23 positive regulation of interferon-gamma production GO:0032729 9.58 IL1B IL1R1 PYCARD
24 negative regulation of glutamate secretion GO:0014050 9.56 IL1B IL1RN
25 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.56 CASP1 NLRC4 NLRP3 PYCARD
26 cellular response to lipopolysaccharide GO:0071222 9.55 CASP1 IL1B IL1RN NLRP3 PYCARD
27 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.51 IL1B IL1R1
28 positive regulation of interleukin-1 beta secretion GO:0050718 9.5 CASP1 NLRP3 PYCARD
29 chronic inflammatory response to antigenic stimulus GO:0002439 9.48 IL1B IL1RN
30 inflammatory response GO:0006954 9.17 IL1B IL1R1 IL1RN MEFV NLRC4 NLRP3
31 interleukin-1 beta production GO:0032611 9.13 IL1B NLRP3 PYCARD

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 CASP1 IL1B IL1R1 IL1RN MEFV MVK
2 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.26 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

Sources for Cinca Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....