CINCA
MCID: CNC002
MIFTS: 55

Cinca Syndrome (CINCA) malady

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

Aliases & Classifications for Cinca Syndrome

About this section
Sources:
12diseasecard, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 50Novoseek, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cinca Syndrome:

Name: Cinca Syndrome 52 54 70 12 50
Cryopyrin-Associated Periodic Syndromes 39 68
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 68
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 70
Chronic Infantile Neurological Cutaneous Articular Syndrome 54
Infantile-Onset Multisystem Inflammatory Disease 54
Neonatal Onset Multisystem Inflammatory Disease 70
Neonatal-Onset Multisystem Inflammatory Disease 54
 
Cryopyrin-Associated Periodic Syndrome 3 70
Prieur-Griscelli Syndrome 54
Nomid Syndrome 54
Iomid Syndrome 54
Caps3 70
Cinca 70
Nomid 70

Characteristics:

Orphanet epidemiological data:

54
cinca syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM52 607115
Orphanet54 ORPHA1451
ICD10 via Orphanet31 E85.0
MedGen37 C0409818
MeSH39 D056587

Summaries for Cinca Syndrome

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OMIM:52 Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early... (607115) more...

MalaCards based summary: Cinca Syndrome, also known as cryopyrin-associated periodic syndromes, is related to and cryopyrin-associated periodic syndrome, and has symptoms including Array, Array and Array. An important gene associated with Cinca Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways are Hypertrophy Model and Immune response IFN gamma signaling pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and neoplasm.

Genetics Home Reference:25 Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.

UniProtKB/Swiss-Prot:70 Chronic infantile neurologic cutaneous and articular syndrome: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.

Related Diseases for Cinca Syndrome

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Diseases related to Cinca Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
111.7
2cryopyrin-associated periodic syndrome11.2
3familial cold-induced inflammatory syndrome 110.9
4prostatitis10.2IL1R1, NLRP3
5pulmonary artery coming from the aorta10.2MEFV, NLRP3
6invasive aspergillosis10.2MEFV, NLRP3
7coloboma of optic papilla10.2IL1R1, IL1RAPL2, NLRP3
8cutaneous sclerosis10.1IL1R1, IL1RN, NLRP3
9gonadal disease10.1IL1RN, NLRP3
10oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies10.0MEFV, TNFRSF1A
11hepatocellular carcinoma10.0IL1B, IL1RN
12spondylocostal dysostosis-hypospadias-intellectual disability syndrome10.0MEFV, TNFRSF1A
13deafness, autosomal recessive 2510.0NLRP3, TNFRSF1A
14laryngotracheoesophageal cleft type 210.0IL18, IL1B
15malignant perineurioma10.0MEFV, TNFRSF1A
16stomatitis10.0IL18, IL1RN
17chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included10.0CASP1, IL1B, PYCARD
18malignant histiocytosis10.0IL1R1, MEFV, MVK, NLRP3
19senile cataract10.0IL1B, MEFV, NLRP3
20amelanotic melanoma10.0CASP1, IL1B, NLRP3
21dextrocardia10.0IL1B, IL1RN
22skin conditions10.0IL1B, IL1RN, NLRP3
23juvenile amyotrophic lateral sclerosis with dementia9.9CASP1, TNFRSF1A
24steroid dehydrogenase deficiency dental anomalies9.9IL18, IL1B
25bazex syndrome9.9IL1RN, TNFRSF1A
26bone angioendothelial sarcoma9.9IL1B, IL1RN, NLRP3
27tau syndrome9.9IL18, IL1B, MEFV
28bacterial conjunctivitis9.9IL18, TNFRSF1A
29candidiasis, familial, 4, autosomal recessive9.9MEFV, MVK, TNFRSF1A
30hydrocephalus9.9
31mechanical lagophthalmos9.9MEFV, MVK, TNFRSF1A
32cerebrum cancer9.9IL1B, TNFRSF1A
33isolated growth hormone deficiency9.9CASP1, IL18, IL1B
34retinal cancer9.9IL1B, MEFV, MVK, NLRP3
35classic type lipoma9.9CASP1, IL1B, IL1RN
36gastric leiomyoma9.9IL18, IL1B
37meier-gorlin syndrome 39.9IL1B, MEFV, MVK, NLRP3
38warthin tumor9.9IL1B, IL1R1, IL1RN, NLRP3
39senile reticular retinal degeneration9.9IL1B, IL1R1, IL1RN, NLRP3
40synovium cancer9.8IL18, IL1B, IL1RN
41kidney leiomyosarcoma9.8IL1RN, MEFV, TNFRSF1A
42primrose syndrome9.8IL1RN, TNFRSF1A
43immunodeficiency 99.8IL1RN, MVK, TNFRSF1A
44keratoconus9.8IL1B, IL1R1, IL1RAPL2, IL1RN
45gonococcal endophthalmia9.8IL1B, IL1RN, MEFV, NLRP3
46porokeratosis 3, disseminated superficial actinic9.8IL1B, IL1RN, MVK, NLRP3
47patau syndrome9.8IL1B, MEFV, TNFRSF1A
48pancreas lymphoma9.8IL1B, MEFV, TNFRSF1A
49mental retardation hypotonia skin hyperpigmentation9.8IL1B, IL1RN
50posterior uveitis9.7

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



Diseases related to cinca syndrome

Symptoms & Phenotypes for Cinca Syndrome

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Clinical features from OMIM:

607115

Human phenotypes related to Cinca Syndrome:

 54 64 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Frequent (79-30%) HP:0000256
2 hearing impairment54 Very frequent (99-80%)
3 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
4 visual impairment54 Frequent (79-30%)
5 proptosis64 54 Frequent (79-30%) HP:0000520
6 pseudopapilledema64 54 Very frequent (99-80%) HP:0000538
7 uveitis64 54 Very frequent (99-80%) HP:0000554
8 blindness64 54 Occasional (29-5%) HP:0000618
9 edema64 54 Frequent (79-30%) HP:0000969
10 purpura64 54 Occasional (29-5%) HP:0000979
11 urticaria64 54 Very frequent (99-80%) HP:0001025
12 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
13 intellectual disability64 54 Occasional (29-5%) HP:0001249
14 global developmental delay64 54 Occasional (29-5%) HP:0001263
15 meningitis64 54 Very frequent (99-80%) HP:0001287
16 abnormal joint morphology54 Frequent (79-30%)
17 joint dislocation64 54 Frequent (79-30%) HP:0001373
18 delayed closure of the anterior fontanelle64 54 Frequent (79-30%) HP:0001476
19 growth delay64 54 Occasional (29-5%) HP:0001510
20 premature birth64 54 Occasional (29-5%) HP:0001622
21 splenomegaly64 54 Frequent (79-30%) HP:0001744
22 abnormality of thrombocytes64 54 Frequent (79-30%) HP:0001872
23 abnormality of neutrophils64 54 Very frequent (99-80%) HP:0001874
24 anemia64 54 Frequent (79-30%) HP:0001903
25 abnormality of granulocytes54 Very frequent (99-80%)
26 fever64 54 Very frequent (99-80%) HP:0001945
27 leukocytosis64 54 Frequent (79-30%) HP:0001974
28 frontal bossing64 54 Frequent (79-30%) HP:0002007
29 nausea and vomiting64 54 Very frequent (99-80%) HP:0002017
30 migraine64 54 Very frequent (99-80%) HP:0002076
31 hepatomegaly64 54 Frequent (79-30%) HP:0002240
32 eeg abnormality64 54 Occasional (29-5%) HP:0002353
33 increased intracranial pressure64 54 Very frequent (99-80%) HP:0002516
34 skeletal dysplasia64 54 Frequent (79-30%) HP:0002652
35 lymphadenopathy64 54 Frequent (79-30%) HP:0002716
36 arthralgia64 54 Very frequent (99-80%) HP:0002829
37 myalgia64 54 Very frequent (99-80%) HP:0003326
38 elevated erythrocyte sedimentation rate64 54 Very frequent (99-80%) HP:0003565
39 reduced bone mineral density64 54 Occasional (29-5%) HP:0004349
40 elevated c-reactive protein level64 54 Very frequent (99-80%) HP:0011227
41 fatigue64 54 Very frequent (99-80%) HP:0012378
42 inflammatory abnormality of the eye54 Very frequent (99-80%)
43 retrobulbar optic neuritis64 54 Occasional (29-5%) HP:0100654
44 papule64 54 Very frequent (99-80%) HP:0200034

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-14.3CASP1, IL18, IL1B, NLRP3, PYCARD, TNFRSF1A

MGI Mouse Phenotypes related to Cinca Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6CASP1, IL1B, IL1R1, PYCARD, TNFRSF1A
2MP:00107717.4CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
3MP:00053977.1CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
4MP:00053767.1CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
5MP:00053877.0CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV

Drugs & Therapeutics for Cinca Syndrome

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

(show all 34)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ginsengapproved, nutraceuticalPhase 49650647-08-0
Synonyms:
Aralia ginseng root
Asian ginseng
Asian ginseng root
Chinese ginseng root
Ginseng (panax ginseng)
Ginseng extract
Ginseng, asian
Hong shen root
Insam root
Korean ginseng
 
Korean ginseng root
Ninjin root
Panax ginseng
Panax ginseng root
Panax ginseng root extract
Panax schinseng root
Panax verus root
Red ginseng
Ren seng root
Ren shen
Ren shen root
True ginseng root
2
Emtricitabineapproved, investigationalPhase 3457143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
3
Maravirocapproved, investigationalPhase 3144376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc
4
Tenofovirapproved, investigationalPhase 3759147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-9-(2-phosphonomethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
 
HHA & Tenofovir
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
5DolutegravirapprovedPhase 31501051375-16-654726191
6
Ritonavirapproved, investigationalPhase 3883155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
7
Lamivudineapproved, investigationalPhase 3621134678-17-460825
Synonyms:
(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(+/-)-3TC
(+/-)-BCH-189
(+/-)-SddC
(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine
(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-2'-Deoxy-3'-thiacytidine
(-)-BCH 189
(-)-BCH-189
(-)-SddC
(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine
(-)NGPB-21
(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To
134678-17-4
2',3' Dideoxy 3' thiacytidine
2',3'-Dideoxy-3'-thiacytidine
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)
3'-Thia-2',3'-dideoxycytidine
3TC
3TC & GNA
3TC & SST
3TC (AIDS INITIATIVE) (AIDS INITIATIVE)
3TC and NV-01
3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine
4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
480434-79-5
AC-1416
AC1L1TZZ
AC1Q6C34
BCH 189
BCH-189
BCH-790
BCH189
BIDD:GT0033
Bio-0652
C07065
C8H11N3O3S
CCRIS 9274
CHEBI:133986
CHEMBL141
CID60825
CPD000466319
D00353
D019259
 
DB00709
DRG-0126
DTHC
Epivir
Epivir (TN)
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714X
GR-109714X
GR109714X
HHA & 3TC
HHA & Lamivudine
HMS2051D21
HSDB 7155
Hepitec
Heptivir
Heptodin
Heptovir
L0217
LMV
LS-2107
Lamivir
Lamivudin
Lamivudina
Lamivudine
Lamivudine & GNA
Lamivudine (JAN/USP/INN)
Lamivudine [USAN:BAN:INN]
Lamivudine [USAN:INN:BAN]
Lamivudine [Usan:Ban:Inn]
Lamivudine, (2S-cis)-Isomer
Lamivudinum
MLS000759424
MLS001424097
MolPort-002-507-347
NCGC00159341-03
NCGC00159341-04
NSC620753
S1706_Selleck
SAM001246582
SAM002589994
SMR000466319
STK801940
UNII-2T8Q726O95
ZINC00012346
Zeffix
Zefix
beta-L-2',3'-Dideoxy-3'-thiacytidine
beta-L-3'-Thia-2',3'-dideoxycytidine
lamivudine
8
DarunavirapprovedPhase 3210635728-49-3, 206361-99-1213039
Synonyms:
(3-((4-aminobenzenesulfonyl)isobutylamino)-1-benzyl-2-hydroxypropyl)carbamic acid hexahydrofuro(2,3-b)furan-3-yl ester
(3R,3AS,6AR)-HEXAHYDROFURO[2,3-B]FURAN-3-YL(1S,2R)-3-[[(4-AMINOPHENYL)SULFONYL](ISOBUTYL)AMINO]-1-BENZYL-2-HYDROXYPROPYLCARBAMATE
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl(1S,2R)-3-[[(4-aminophenyl)sulfonyl](isobutyl)amino]-1-benzyl-2-hydroxypropylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-Hexahydrofuro(2,3-b)furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N1-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl [(2S,3R)-4-{[(4-aminophenyl)sulfonyl](2-methylpropyl)amino}-3-hydroxy-1-phenylbutan-2-yl]carbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
206361-99-1
2f80
2f81
2f8g
2hs1
2hs2
2idw
2ien
3bvb
3cyw
3d1z
3d20
618109-00-5
AC1L4U4V
AIDS073035
CHEBI:367163
CHEMBL1323
 
CID213039
Carbamic acid, [(1S,2R)-3-[[(4-aminophenyl)sulfonyl](2-methylpropyl)amino]-2-hydroxy-1-(phenylmethyl)propyl]-, (3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl ester
D03656
DB01264
Darunavir
Darunavir (USAN/INN)
Darunavir [USAN]
Darunavirum
Darunavirum [INN-Latin]
Darunavirum [INN-latin]
LS-187026
LS-187772
LS-191295
MolPort-003-846-141
N-((1S,2R)-3-(((4-Aminophenyl)sulfonyl)(2-methylpropyl)amino)-2-hydroxy-1-benzylpropyl)((1S,2R,5R)-4,6-dioxabicyclo(3.3.0)oct-2-yloxy)carboxamide
Prezista
Prezista(TM)
TMC 114
TMC-114
TMC114
UIC 94017
UIC-94017
UIC-96017
UNII-YO603Y8113
[(3aS,4R,6aR)-2,3,3a,4,5,6a-hexahydrofuro[2,3-b]furan-4-yl] N-[(2S,3R)-4-[(4-aminophenyl)sulfonyl-(2-methylpropyl)amino]-3-hydroxy-1-phenylbutan-2-yl]carbamate
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
9
Abacavirapproved, investigationalPhase 3214136470-78-565140, 441300
Synonyms:
(+/-)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
(+/-)-Abacavir
(1S,4R)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
136470-78-5
1592U89
168146-84-7
ABC
AC1L9AXG
Abacavir (INN)
Abacavir [INN]
Bio-0001
C07624
CHEBI:421707
 
CHEMBL1380
CID441300
D07057
DB01048
Epzicom
NCGC00164560-01
NCGC00164560-02
NSC742406
Trizivir
ZINC02015928
Ziagen
Ziagen (TM)(*Succinate salt*)
[(1S,4R)-4-[2-amino-6-(cyclopropylamino)purin-9-yl]cyclopent-2-en-1-yl]methanol
abacavir
{(1S-cis)-4-[2-amino-6-(cyclopropylamino)-9H-purin-9-yl]cyclopent-2-en-1-yl}methanol
10ImmunoglobulinsPhase 3, Phase 26394
11AntibodiesPhase 3, Phase 26394
12Antibodies, MonoclonalPhase 3, Phase 24039
13VaccinesPhase 36611
14Antirheumatic AgentsPhase 1, Phase 210956
15Interleukin 1 Receptor Antagonist ProteinPhase 2, Phase 199
16
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
17
Secretinapproved, investigational31108153-74-8
Synonyms:
108153-74-8
1393-25-5
67307-60-2 (citrate (salt))
9002-77-1
EINECS 215-733-3
Hormone of the duodenal mucosa that activates pancreatic secretion and lowers the blood sugar level
Human secretin
I06-1828
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-aspartyl-L-seryl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-glutamylglycyl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
LS-144747
RG 1068
SECREFLO
SECRETIN
SECRETIN-FERRING
 
SecreFlow
Secrepan
Secretin (human)
Secretin (porcine)
Secretin [INN:BAN:DCF:JAN]
Secretin-Kabi
Secretina
Secretina [INN-Spanish]
Secretine
Secretine [INN-French]
Secretinum
Secretinum [INN-Latin]
Secretolin
UNII-88C55N56UU
UNII-A0426J905J
Vitrum
18Vitamins5282
19pancreatin970
20Gastrointestinal Agents8402
21Hormones, Hormone Substitutes, and Hormone Antagonists13168
22Hormone Antagonists13180
23Hormones14415
24HIV Protease Inhibitors5470
25Nucleic Acid Synthesis Inhibitors4962
26Reverse Transcriptase Inhibitors1913
27Cytochrome P-450 Enzyme Inhibitors3917
28
protease inhibitors5471
Synonyms:
 
protease inhibitors
29Antiviral Agents9967
30Anti-HIV Agents3162
31Anti-Infective Agents22062
32Anti-Retroviral Agents3296
33Atazanavir Sulfate223
34Cytochrome P-450 CYP3A Inhibitors1715

Interventional clinical trials:

(show all 30)
idNameStatusNCT IDPhase
1Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and FeetCompletedNCT01664156Phase 4
2Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the HandsRecruitingNCT02645916Phase 4
3The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in CanadaCompletedNCT01105507Phase 3
4Efficacy, 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 DiseaseCompletedNCT01302860Phase 3
5Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension PhaseCompletedNCT00991146Phase 3
6Efficacy 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 DiseaseCompletedNCT00685373Phase 3
7Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)CompletedNCT00288704Phase 3
8Efficacy, 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 DiseaseCompletedNCT01576367Phase 3
9Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells SyndromeCompletedNCT00465985Phase 3
10Impact of Extremely Early Antiretroviral Therapy to Reduce VIral REservoir and Induce Functional CURE of HIV-1 InfectionRecruitingNCT02588820Phase 3
11Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and FeetNot yet recruitingNCT03083522Phase 3
12Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory DiseaseTerminatedNCT00770601Phase 3
13Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS)CompletedNCT01045772Phase 2
14Efficacy and Safety of Canakinumab in Schnitzler SyndromeCompletedNCT01276522Phase 2
15Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
16HL2351 CAPS Phase II StudyTerminatedNCT02853084Phase 2
17Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329Phase 1, Phase 2
18A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's DiseaseWithdrawnNCT01211977Phase 1, Phase 2
19The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
20Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsUnknown statusNCT00933296
21A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic ProceduresUnknown statusNCT01919359
22Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
23Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
24Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress DisorderCompletedNCT01517672
25Kineret CAPS Post Authorisation StudyRecruitingNCT02326376
26Phenomics in Autoimmune and Inflammatory DiseasesRecruitingNCT02466217
27Studies 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)RecruitingNCT00059748
28Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)RecruitingNCT02974595
29Simplification From Tenofovir Plus Lamivudine or Emtricitabine Plus Ritonavir-Boosted-Protease Inhibitor to Ritonavir-Boosted-Atazanavir Plus Lamivudine in Virologically-Suppressed-HIVInfected Adults With OsteopeniaRecruitingNCT02652793
30NT-proBNP in the Management of Discharged Patients With Acutely Decompensated Heart Failure and Preserved Ejection FractionRecruitingNCT02807168

Search NIH Clinical Center for Cinca Syndrome


Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Cinca Syndrome

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Anatomical Context for Cinca Syndrome

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MalaCards organs/tissues related to Cinca Syndrome:

36
Skin, Bone, Eye, Neutrophil

Publications for Cinca Syndrome

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Articles related to Cinca Syndrome:

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

Variations for Cinca Syndrome

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

70 (show all 20)
id Symbol AA change Variation ID SNP ID
1NLRP3p.Asp305AsnVAR_014105rs121908153
2NLRP3p.Phe311SerVAR_014106rs121908154
3NLRP3p.Phe575SerVAR_014108rs121908152
4NLRP3p.Thr350MetVAR_014366rs151344629
5NLRP3p.His360ArgVAR_014367rs180177434
6NLRP3p.Thr438AsnVAR_014368rs180177433
7NLRP3p.Met664ThrVAR_014370rs180177435
8NLRP3p.Tyr861CysVAR_023551rs180177452
9NLRP3p.Ile174ThrVAR_043679rs180177449
10NLRP3p.Arg262LeuVAR_043680rs180177442
11NLRP3p.Arg262ProVAR_043681rs180177442
12NLRP3p.Leu266HisVAR_043682rs180177436
13NLRP3p.Asp305GlyVAR_043683rs180177447
14NLRP3p.Gln308LysVAR_043684rs180177432
15NLRP3p.Glu356AspVAR_043686rs180177444
16NLRP3p.Thr407ProVAR_043687rs180177445
17NLRP3p.Thr438IleVAR_043688rs180177433
18NLRP3p.Phe525LeuVAR_043690rs180177439
19NLRP3p.Tyr572CysVAR_043691rs180177438
20NLRP3p.Leu634PheVAR_043692rs180177446

Clinvar genetic disease variations for Cinca Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP3NM_ 001243133.1(NLRP3): c.1718T> C (p.Phe573Ser)SNVPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
2NLRP3NM_ 001243133.1(NLRP3): c.907G> A (p.Asp303Asn)SNVPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
3NLRP3NM_ 001243133.1(NLRP3): c.926T> C (p.Phe309Ser)SNVPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677

Expression for genes affiliated with Cinca Syndrome

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Search GEO for disease gene expression data for Cinca Syndrome.

Pathways for genes affiliated with Cinca Syndrome

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Pathways related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idSuper pathwaysScoreTop Affiliating Genes
19.7IL18, IL1R1
2
Show member pathways
9.4CASP1, IL1B
39.3IL18, IL1B
49.3IL18, IL1B
5
Show member pathways
9.0CASP1, MEFV, NLRP3, PYCARD
6
Show member pathways
9.0IL18, IL1B, IL1R1
79.0IL18, IL1B, IL1R1
88.9CASP1, IL18, IL1B
98.9CASP1, IL18, IL1B
108.7IL18, IL1B, IL1R1, NLRP3
118.7CASP1, IL1B, NLRP3, PYCARD
128.7IL1B, IL1R1, TNFRSF1A
138.7IL1B, IL1R1, TNFRSF1A
148.7IL1B, IL1R1, TNFRSF1A
15
Show member pathways
8.6CASP1, IL1B, IL1R1, IL1RN
168.5IL18, IL1B, TNFRSF1A
17
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
18
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
198.5CASP1, IL18, IL1B, PYCARD
20
Show member pathways
8.3CASP1, IL1B, IL1R1, TNFRSF1A
21
Show member pathways
8.3CASP1, IL1B, IL1R1, TNFRSF1A
227.9CASP1, IL18, IL1B, MEFV, NLRP3, PYCARD
23
Show member pathways
7.8CASP1, IL18, IL1B, IL1R1, TNFRSF1A
247.7IL18, IL1B, IL1R1, IL1RN, TNFRSF1A
25
Show member pathways
7.4CASP1, IL18, IL1B, NLRP3, PYCARD, TNFRSF1A
26
Show member pathways
7.2CASP1, IL18, IL1B, IL1R1, IL1RN, TNFRSF1A
27
Show member pathways
7.1CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
28
Show member pathways
6.3CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV

GO Terms for genes affiliated with Cinca Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1AIM2 inflammasome complexGO:009716910.4CASP1, PYCARD
2NLRP1 inflammasome complexGO:00725589.8CASP1, PYCARD
3NLRP3 inflammasome complexGO:00725599.4CASP1, NLRP3, PYCARD
4extracellular regionGO:00055766.8CASP1, IL18, IL1B, IL1R1, IL1RN, NLRP3

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cysteine-type endopeptidase activityGO:200105610.5MEFV, PYCARD
2positive regulation of T-helper 2 cell differentiationGO:004563010.4IL18, NLRP3
3positive regulation of activated T cell proliferationGO:004210410.3IL18, PYCARD
4positive regulation of interleukin-6 secretionGO:200077810.2IL1B, PYCARD
5positive regulation of phagocytosisGO:005076610.2IL1B, PYCARD
6regulation of inflammatory responseGO:005072710.2CASP1, IL1R1, NLRP3
7cellular response to organic substanceGO:007131010.2CASP1, IL1B
8activation of cysteine-type endopeptidase activity involved in apoptotic processGO:000691910.2CASP1, NLRP3, PYCARD
9response to ATPGO:003319810.1CASP1, IL1B
10positive regulation of interleukin-1 beta secretionGO:005071810.1CASP1, NLRP3, PYCARD
11lipopolysaccharide-mediated signaling pathwayGO:003166310.1IL18, IL1B
12positive regulation of granulocyte macrophage colony-stimulating factor productionGO:003272510.1IL18, IL1B
13positive regulation of NF-kappaB import into nucleusGO:004234610.1IL18, IL1B
14regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.0PYCARD, TNFRSF1A
15positive regulation of NF-kappaB transcription factor activityGO:00510929.9IL1B, NLRP3, PYCARD
16interleukin-1 beta productionGO:00326119.9CASP1, IL1B, NLRP3
17regulation of establishment of endothelial barrierGO:19031409.8IL1B, TNFRSF1A
18positive regulation of interferon-gamma productionGO:00327299.7IL18, IL1B, PYCARD
19negative regulation of inflammatory responseGO:00507289.5MEFV, MVK, NLRP3, TNFRSF1A
20cellular response to mechanical stimulusGO:00712609.4CASP1, IL1B, TNFRSF1A
21positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3CASP1, IL1B, TNFRSF1A
22response to lipopolysaccharideGO:00324969.3CASP1, IL1B, TNFRSF1A
23cytokine-mediated signaling pathwayGO:00192219.1IL1B, IL1R1, IL1RAPL2, TNFRSF1A
24apoptotic processGO:00069158.7CASP1, IL1B, NLRP3, PYCARD, TNFRSF1A
25immune responseGO:00069558.5IL18, IL1B, IL1R1, IL1RN, TNFRSF1A
26inflammatory responseGO:00069547.8IL18, IL1B, IL1RN, MEFV, NLRP3, PYCARD
27signal transductionGO:00071657.2CASP1, IL1B, IL1R1, IL1RAPL2, NLRP3, PYCARD

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

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activator activity involved in apoptotic processGO:000865610.2CASP1, PYCARD
2interleukin-1 receptor activityGO:000490810.1IL1R1, IL1RAPL2
3interleukin-1 receptor bindingGO:00051499.3IL1B, IL1RN
4cytokine activityGO:00051259.2IL18, IL1B, IL1RN

Sources for Cinca Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet