MCID: CNC002
MIFTS: 56

Cinca Syndrome 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
Iomid Syndrome 54
Nomid Syndrome 54
Caps3 70
Nomid 70
Cinca 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 familial cold-induced inflammatory syndrome 1 and cryopyrin-associated periodic syndrome, and has symptoms including abnormality of the oral cavity, sensorineural hearing impairment and optic atrophy. An important gene associated with Cinca Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways are Hypertrophy Model and African trypanosomiasis. Affiliated tissues include skin, eye and bone, 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 74)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold-induced inflammatory syndrome 129.3CASP1, IL1B, IL1R1, MEFV, NLRP3, TNFRSF1A
2cryopyrin-associated periodic syndrome11.2
3chronic infantile neurological cutaneous articular syndrome11.1
4juvenile spondyloarthropathy10.5MEFV, NLRP3
5collagenous gastritis10.3IL1R1, IL1RAPL2, NLRP3
6pharyngitis10.3IL1RN, NLRP3
7prostate leiomyosarcoma10.3IL1RN, MEFV
8pyrimidine metabolic disorder10.2IL1RN, MEFV
9vaginal squamous tumor10.2IL1RAPL2, IL1RN
10carbon baby syndrome10.2IL1R1, IL1RN, NLRP3
11leukoplakia10.2IL18, IL1R1
12early congenital syphilis10.1IL1RN, NLRP3
13neurofibroma of the esophagus10.1IL18, IL1RN
14gastric cancer risk after h. pylori infection10.1IL1B, IL1RN
15mental retardation anophthalmia craniosynostosis10.1IL1B, IL1RN
16midline interhemispheric variant of holoprosencephaly10.1IL18, IL1B
17peri-anal fistula10.1IL1B, IL1RN
18autosomal recessive secondary polycythemia not associated with vhl gene10.0MEFV, TNFRSF1A
19adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency10.0MEFV, TNFRSF1A
20non-secretory myeloma10.0IL1B, IL1RN
21qualitative platelet defect10.0IL18, IL1B
22sterility due to immotile flagella10.0IL18, IL1B
23pure mitochondrial myopathy10.0MEFV, TNFRSF1A
24syphilitic encephalitis10.0IL18, IL1B
25primary biliary cirrhosis10.0IL1R1, TNFRSF1A
26gait apraxia10.0NLRP3, TNFRSF1A
27human monocytic ehrlichiosis10.0IL18, IL1B
28pulmonary systemic sclerosis10.0IL1B, IL1R1, IL1RAPL2
29anaerobic meningitis9.9IL1B, IL1RN
30lymphocele9.9CASP1, IL1B, NLRP3
31osmotic diarrhea9.9IL1B, IL1RN
32dystonia 17, torsion, autosomal recessive9.9CASP1, IL1B, PYCARD
33askin's tumor9.9IL1B, IL1RN
34hydrocephalus9.9
35nasopharyngitis9.9CASP1, IL1B, PYCARD
36sinusitis9.9IL1B, IL1RN, NLRP3
37primrose syndrome9.8IL1RN, TNFRSF1A
38arthropathy9.8
39tibialis tendinitis9.8IL1B, IL1RN
40lower gum cancer9.8MEFV, NLRP3, TNFRSF1A
41histiocytoid hemangioma9.8IL1B, IL1RN
42kidney rhabdoid cancer9.8IL1B, TNFRSF1A
43lens disease9.8IL1RN, TNFRSF1A
44posterior uveitis9.7
45uveitis9.7
46papilledema9.7
47retinitis9.7
48astrocytoma9.7CASP1, IL1R1, TNFRSF1A
49isolated congenital auditory ossicle malformation9.7IL18, IL1B
50multiple sclerosis 59.7MEFV, MVK, TNFRSF1A

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:

 64 54 (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity64 hallmark (90%) HP:0000163
2 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
3 optic atrophy64 hallmark (90%) HP:0000648
4 urticaria64 54 hallmark (90%) Very frequent (99-80%) HP:0001025
5 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
6 meningitis64 54 hallmark (90%) Very frequent (99-80%) HP:0001287
7 abnormality of neutrophils64 54 hallmark (90%) Very frequent (99-80%) HP:0001874
8 nausea and vomiting64 54 hallmark (90%) Very frequent (99-80%) HP:0002017
9 migraine64 54 hallmark (90%) Very frequent (99-80%) HP:0002076
10 increased intracranial pressure64 54 hallmark (90%) Very frequent (99-80%) HP:0002516
11 arthralgia64 54 hallmark (90%) Very frequent (99-80%) HP:0002829
12 myalgia64 54 hallmark (90%) Very frequent (99-80%) HP:0003326
13 abnormality of temperature regulation64 hallmark (90%) HP:0004370
14 inflammatory abnormality of the eye64 54 hallmark (90%) Very frequent (99-80%) HP:0100533
15 abnormality of the fontanelles or cranial sutures64 typical (50%) HP:0000235
16 macrocephaly64 54 typical (50%) Frequent (79-30%) HP:0000256
17 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
18 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
19 edema64 54 typical (50%) Frequent (79-30%) HP:0000969
20 polyneuropathy64 typical (50%) HP:0001271
21 arthritis64 typical (50%) HP:0001369
22 splenomegaly64 54 typical (50%) Frequent (79-30%) HP:0001744
23 abnormality of thrombocytes64 54 typical (50%) Frequent (79-30%) HP:0001872
24 anemia64 54 typical (50%) Frequent (79-30%) HP:0001903
25 leukocytosis64 54 typical (50%) Frequent (79-30%) HP:0001974
26 frontal bossing64 54 typical (50%) Frequent (79-30%) HP:0002007
27 hepatomegaly64 54 typical (50%) Frequent (79-30%) HP:0002240
28 skeletal dysplasia64 54 typical (50%) Frequent (79-30%) HP:0002652
29 lymphadenopathy64 54 typical (50%) Frequent (79-30%) HP:0002716
30 limitation of joint mobility64 occasional (7.5%) HP:0001376
31 premature birth64 54 occasional (7.5%) Occasional (29-5%) HP:0001622
32 subcutaneous hemorrhage64 occasional (7.5%) HP:0001933
33 reduced bone mineral density64 54 occasional (7.5%) Occasional (29-5%) HP:0004349
34 cognitive impairment64 occasional (7.5%) HP:0100543
35 retrobulbar optic neuritis64 54 occasional (7.5%) Occasional (29-5%) HP:0100654
36 hearing impairment54 Very frequent (99-80%)
37 pseudopapilledema54 Very frequent (99-80%)
38 uveitis54 Very frequent (99-80%)
39 blindness54 Occasional (29-5%)
40 purpura54 Occasional (29-5%)
41 intellectual disability54 Occasional (29-5%)
42 global developmental delay54 Occasional (29-5%)
43 abnormal joint morphology54 Frequent (79-30%)
44 joint dislocation54 Frequent (79-30%)
45 delayed closure of the anterior fontanelle54 Frequent (79-30%)
46 growth delay54 Occasional (29-5%)
47 abnormality of granulocytes54 Very frequent (99-80%)
48 fever54 Very frequent (99-80%)
49 eeg abnormality54 Occasional (29-5%)
50 elevated erythrocyte sedimentation rate54 Very frequent (99-80%)
51 elevated c-reactive protein level54 Very frequent (99-80%)
52 fatigue54 Very frequent (99-80%)
53 papule54 Very frequent (99-80%)

UMLS symptoms related to Cinca Syndrome:


exanthema, macular rash, erythema scarlatiniforme, mucocutaneous rash, nodular rash, pathergy reaction

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:00020068.7CASP1, IL1B, IL1R1, PYCARD, TNFRSF1A
2MP:00053908.4IL1B, IL1R1, IL1RN, MEFV, NLRP3, TNFRSF1A
3MP:00107717.4CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
4MP:00053977.1CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
5MP:00053767.1CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
6MP:00053877.1CASP1, 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
1Ginsengapproved, nutraceuticalPhase 49250647-08-0
2
Emtricitabineapproved, investigationalPhase 3439143491-57-060877
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 3142376348-65-13002977
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 3733147127-20-6464205
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 31411051375-16-654726191
6
Ritonavirapproved, investigationalPhase 3870155213-67-5392622
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 3613134678-17-460825
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 3205635728-49-3, 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 3211136470-78-565140, 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 26045
11AntibodiesPhase 3, Phase 26045
12Antibodies, MonoclonalPhase 3, Phase 23795
13VaccinesPhase 36428
14Antirheumatic AgentsPhase 1, Phase 210627
15Interleukin 1 Receptor Antagonist ProteinPhase 2, Phase 196
16
Pancrelipaseapproved93553608-75-6
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
18Vitamins5095
19pancreatin935
20Gastrointestinal Agents8109
21Hormones, Hormone Substitutes, and Hormone Antagonists12767
22Hormone Antagonists12778
23Hormones13979
24HIV Protease Inhibitors5319
25Nucleic Acid Synthesis Inhibitors4855
26Reverse Transcriptase Inhibitors1880
27Cytochrome P-450 Enzyme Inhibitors3822
28
protease inhibitors5320
Synonyms:
 
protease inhibitors
29Antiviral Agents9732
30Anti-HIV Agents3100
31Anti-Infective Agents21402
32Anti-Retroviral Agents3232
33Atazanavir Sulfate223
34Cytochrome P-450 CYP3A Inhibitors1666

Interventional clinical trials:

(show all 29)
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
11Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory DiseaseTerminatedNCT00770601Phase 3
12Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS)CompletedNCT01045772Phase 2
13Efficacy and Safety of Canakinumab in Schnitzler SyndromeCompletedNCT01276522Phase 2
14Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
15HL2351 CAPS Phase II StudyTerminatedNCT02853084Phase 2
16Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329Phase 1, Phase 2
17A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's DiseaseWithdrawnNCT01211977Phase 1, Phase 2
18The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
19Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsUnknown statusNCT00933296
20A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic ProceduresUnknown statusNCT01919359
21Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
22Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
23Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress DisorderCompletedNCT01517672
24Kineret CAPS Post Authorisation StudyRecruitingNCT02326376
25Phenomics in Autoimmune and Inflammatory DiseasesRecruitingNCT02466217
26Studies 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
27Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)RecruitingNCT02974595
28Simplification From Tenofovir Plus Lamivudine or Emtricitabine Plus Ritonavir-Boosted-Protease Inhibitor to Ritonavir-Boosted-Atazanavir Plus Lamivudine in Virologically-Suppressed-HIVInfected Adults With OsteopeniaRecruitingNCT02652793
29NT-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, Eye, Bone, Neutrophil, Heart, Pancreas

Publications for Cinca Syndrome

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Articles related to Cinca Syndrome:

(show all 26)
idTitleAuthorsYear
1
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. (27927236)
2016
2
Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome. (27320017)
2016
3
Switch from anakinra to canakinumab in a severe case of CINCA syndrome. (26585548)
2015
4
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report. (25867226)
2015
5
CINCA syndrome in an infant presenting with hydrocephalus. (24618115)
2014
6
Neonatal treatment of CINCA syndrome. (25584041)
2014
7
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. (22723549)
2012
8
Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. (22333493)
2012
9
Post-inflammatory retinal dystrophy in CINCA syndrome. (19424698)
2010
10
CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. (20005004)
2010
11
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. (21686518)
2009
12
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. (19890791)
2009
13
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. (17891446)
2008
14
Anesthesia in an infant with a CINCA syndrome. (18312510)
2008
15
Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. (18558058)
2008
16
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
Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. (17179131)
2007
20
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. (17244662)
2007
21
Anakinra in mutation-negative CINCA syndrome. (16440135)
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
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
26
Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. (15671048)
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 22)
idSuper pathwaysScoreTop Affiliating Genes
19.7IL18, IL1R1
29.3IL18, IL1B
3
Show member pathways
9.0IL18, IL1B, IL1R1
49.0IL18, IL1B, IL1R1
58.9CASP1, IL18, IL1B
68.9CASP1, IL18, IL1B
78.7CASP1, IL1B, NLRP3, PYCARD
88.7IL1B, IL1R1, TNFRSF1A
98.7IL1B, IL1R1, TNFRSF1A
10
Show member pathways
8.6CASP1, IL1B, IL1R1, IL1RN
118.5IL18, IL1B, TNFRSF1A
12
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
138.5CASP1, IL18, IL1B, PYCARD
14
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
158.3CASP1, IL1B, IL1R1, TNFRSF1A
16
Show member pathways
8.3CASP1, IL1B, IL1R1, TNFRSF1A
17
Show member pathways
7.9CASP1, IL18, IL1B, MEFV, NLRP3, PYCARD
18
Show member pathways
7.8CASP1, IL18, IL1B, IL1R1, TNFRSF1A
19
Show member pathways
7.8CASP1, IL18, IL1B, IL1R1, TNFRSF1A
20
Show member pathways
7.4CASP1, IL18, IL1B, NLRP3, PYCARD, TNFRSF1A
21
Show member pathways
7.4CASP1, IL18, IL1B, IL1R1, IL1RN, NLRP3
22
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:00055767.1CASP1, IL18, IL1B, IL1RN, NLRP3, PYCARD

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328010.5NLRP3, PYCARD
2positive regulation of cysteine-type endopeptidase activityGO:200105610.5MEFV, PYCARD
3positive regulation of activated T cell proliferationGO:004210410.3IL18, PYCARD
4ovulationGO:003072810.3IL1B, IL1R1
5response to bacteriumGO:000961710.2CASP1, PYCARD
6positive regulation of interleukin-6 secretionGO:200077810.2IL1B, PYCARD
7positive regulation of phagocytosisGO:005076610.1IL1B, PYCARD
8cellular response to organic substanceGO:007131010.1CASP1, IL1B
9activation of cysteine-type endopeptidase activity involved in apoptotic processGO:000691910.1CASP1, NLRP3, PYCARD
10positive regulation of interleukin-1 beta secretionGO:005071810.0CASP1, NLRP3, PYCARD
11lipopolysaccharide-mediated signaling pathwayGO:003166310.0IL18, IL1B
12positive regulation of granulocyte macrophage colony-stimulating factor productionGO:003272510.0IL18, IL1B
13positive regulation of NF-kappaB import into nucleusGO:004234610.0IL18, IL1B
14response to ATPGO:003319810.0CASP1, IL1B
15regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.9PYCARD, TNFRSF1A
16positive regulation of NF-kappaB transcription factor activityGO:00510929.9IL1B, NLRP3, PYCARD
17regulation of inflammatory responseGO:00507279.7CASP1, IL1R1, NLRP3, PYCARD
18regulation of establishment of endothelial barrierGO:19031409.7IL1B, TNFRSF1A
19positive regulation of interferon-gamma productionGO:00327299.6IL18, IL1B, PYCARD
20apoptotic processGO:00069159.5CASP1, IL1B, NLRP3, PYCARD
21interleukin-1 beta productionGO:00326119.5CASP1, IL1B, NLRP3, PYCARD
22regulation of apoptotic processGO:00429819.5CASP1, PYCARD, TNFRSF1A
23negative regulation of inflammatory responseGO:00507289.4MEFV, MVK, NLRP3, TNFRSF1A
24cellular response to mechanical stimulusGO:00712609.3CASP1, IL1B, TNFRSF1A
25positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3CASP1, IL1B, TNFRSF1A
26cytokine-mediated signaling pathwayGO:00192219.1IL1B, IL1R1, IL1RAPL2, TNFRSF1A
27immune responseGO:00069559.0IL18, IL1R1, IL1RN, TNFRSF1A
28response to lipopolysaccharideGO:00324968.6CASP1, IL1B, TNFRSF1A
29inflammatory responseGO:00069548.2IL18, IL1B, MEFV, NLRP3, PYCARD, TNFRSF1A

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
2cysteine-type endopeptidase activity involved in apoptotic processGO:009715310.2CASP1, PYCARD
3interleukin-1 receptor activityGO:00049089.8IL1R1, IL1RAPL2
4cytokine activityGO:00051259.0IL18, 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