MCID: CNC002
MIFTS: 55

Cinca Syndrome malady

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

Aliases & Classifications for Cinca Syndrome

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Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 35MedGen
See all MalaCards sources

Aliases & Descriptions for Cinca Syndrome:

Name: Cinca Syndrome 50 52 68 12 48
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 66
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 68
Chronic Infantile Neurological Cutaneous Articular Syndrome 52
Infantile-Onset Multisystem Inflammatory Disease 52
Neonatal-Onset Multisystem Inflammatory Disease 52
Neonatal Onset Multisystem Inflammatory Disease 68
Cryopyrin-Associated Periodic Syndrome 3 68
 
Cryopyrin-Associated Periodic Syndromes 37
Prieur-Griscelli Syndrome 52
Iomid Syndrome 52
Nomid Syndrome 52
Caps3 68
Nomid 68
Cinca 68

Characteristics:

Orphanet epidemiological data:

52
cinca syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM50 607115
Orphanet52 ORPHA1451
ICD10 via Orphanet29 E85.0
MedGen35 C0409818
MeSH37 D056587

Summaries for Cinca Syndrome

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OMIM:50 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 chronic infantile neurological, cutaneous, and articular syndrome, 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 neoplasm and skeleton.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.

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 77)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold-induced inflammatory syndrome 127.8CASP1, IL1B, IL1R1, MEFV, NLRP3, TNFRSF1A
2cryopyrin-associated periodic syndrome12.7
3chronic infantile neurological cutaneous articular syndrome11.5
4juvenile spondyloarthropathy10.6MEFV, NLRP3
5collagenous gastritis10.4IL1R1, IL1RAPL2, NLRP3
6pharyngitis10.3IL1RN, NLRP3
7prostate leiomyosarcoma10.3IL1RN, MEFV
8pyrimidine metabolic disorder10.3IL1RN, MEFV
9vaginal squamous tumor10.3IL1RAPL2, IL1RN
10carbon baby syndrome10.2IL1R1, IL1RN, NLRP3
11leukoplakia10.2IL18, IL1R1
12neurofibroma of the esophagus10.2IL18, IL1RN
13early congenital syphilis10.2IL1RN, NLRP3
14hidradenitis suppurativa10.1IL1B, MEFV
15gastric cancer risk after h. pylori infection10.1IL1B, IL1RN
16mental retardation anophthalmia craniosynostosis10.1IL1B, IL1RN
17midline interhemispheric variant of holoprosencephaly10.1IL18, IL1B
18peri-anal fistula10.1IL1B, IL1RN
19autosomal recessive secondary polycythemia not associated with vhl gene10.1MEFV, TNFRSF1A
20adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency10.1MEFV, TNFRSF1A
21non-secretory myeloma10.1IL1B, IL1RN
22qualitative platelet defect10.1IL18, IL1B
23sterility due to immotile flagella10.1IL18, IL1B
24pure mitochondrial myopathy10.1MEFV, TNFRSF1A
25syphilitic encephalitis10.0IL18, IL1B
26primary biliary cirrhosis10.0IL1R1, TNFRSF1A
27human monocytic ehrlichiosis10.0IL18, IL1B
28hydrocephalus10.0
29gait apraxia10.0NLRP3, TNFRSF1A
30pulmonary systemic sclerosis10.0IL1B, IL1R1, IL1RAPL2
31lymphocele9.9CASP1, IL1B, NLRP3
32arthropathy9.9
33anaerobic meningitis9.9IL1B, IL1RN
34dystonia 17, torsion, autosomal recessive9.9CASP1, IL1B, PYCARD
35osmotic diarrhea9.9IL1B, IL1RN
36nasopharyngitis9.9CASP1, IL1B, PYCARD
37askin's tumor9.9IL1B, IL1RN
38sinusitis9.9IL1B, IL1RN, NLRP3
39posterior uveitis9.9
40uveitis9.9
41papilledema9.9
42retinitis9.9
43primrose syndrome9.9IL1RN, TNFRSF1A
44lower gum cancer9.8MEFV, NLRP3, TNFRSF1A
45tibialis tendinitis9.8IL1B, IL1RN
46kidney rhabdoid cancer9.8IL1B, TNFRSF1A
47lens disease9.8IL1RN, TNFRSF1A
48astrocytoma9.7CASP1, IL1R1, TNFRSF1A
49histiocytoid hemangioma9.7IL1B, IL1RN
50retroperitoneal fibrosis9.7IL1B, IL1RN

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



Diseases related to cinca syndrome

Symptoms for Cinca Syndrome

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Clinical features from OMIM:

607115

Symptoms:

 52 (show all 44)
  • macrocephaly
  • hearing impairment
  • sensorineural hearing impairment
  • visual impairment
  • proptosis
  • pseudopapilledema
  • uveitis
  • blindness
  • edema
  • purpura
  • urticaria
  • brachydactyly syndrome
  • intellectual disability
  • global developmental delay
  • meningitis
  • abnormal joint morphology
  • joint dislocation
  • delayed closure of the anterior fontanelle
  • growth delay
  • premature birth
  • splenomegaly
  • abnormality of thrombocytes
  • abnormality of neutrophils
  • anemia
  • abnormality of granulocytes
  • fever
  • leukocytosis
  • frontal bossing
  • nausea and vomiting
  • migraine
  • hepatomegaly
  • eeg abnormality
  • increased intracranial pressure
  • skeletal dysplasia
  • lymphadenopathy
  • arthralgia
  • myalgia
  • elevated erythrocyte sedimentation rate
  • reduced bone mineral density
  • elevated c-reactive protein level
  • fatigue
  • inflammatory abnormality of the eye
  • retrobulbar optic neuritis
  • papule

HPO human phenotypes related to Cinca Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 optic atrophy hallmark (90%) HP:0000648
4 urticaria hallmark (90%) HP:0001025
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 meningitis hallmark (90%) HP:0001287
7 abnormality of neutrophils hallmark (90%) HP:0001874
8 nausea and vomiting hallmark (90%) HP:0002017
9 migraine hallmark (90%) HP:0002076
10 increased intracranial pressure hallmark (90%) HP:0002516
11 arthralgia hallmark (90%) HP:0002829
12 myalgia hallmark (90%) HP:0003326
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 inflammatory abnormality of the eye hallmark (90%) HP:0100533
15 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
16 macrocephaly typical (50%) HP:0000256
17 visual impairment typical (50%) HP:0000505
18 proptosis typical (50%) HP:0000520
19 edema typical (50%) HP:0000969
20 polyneuropathy typical (50%) HP:0001271
21 arthritis typical (50%) HP:0001369
22 splenomegaly typical (50%) HP:0001744
23 abnormality of thrombocytes typical (50%) HP:0001872
24 anemia typical (50%) HP:0001903
25 leukocytosis typical (50%) HP:0001974
26 frontal bossing typical (50%) HP:0002007
27 hepatomegaly typical (50%) HP:0002240
28 skeletal dysplasia typical (50%) HP:0002652
29 lymphadenopathy typical (50%) HP:0002716
30 visual impairment occasional (7.5%) HP:0000505
31 limitation of joint mobility occasional (7.5%) HP:0001376
32 premature birth occasional (7.5%) HP:0001622
33 subcutaneous hemorrhage occasional (7.5%) HP:0001933
34 reduced bone mineral density occasional (7.5%) HP:0004349
35 cognitive impairment occasional (7.5%) HP:0100543
36 retrobulbar optic neuritis occasional (7.5%) HP:0100654

UMLS symptoms related to Cinca Syndrome:


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

Drugs & Therapeutics for Cinca Syndrome

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1GinsengNutraceuticalPhase 49050647-08-0
2
RitonavirPhase 3856155213-67-5392622
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
3
TenofovirPhase 3709147127-20-6464205
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
4
LamivudinePhase 3605134678-17-460825
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
5
MaravirocPhase 3139376348-65-13002977
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
6
EmtricitabinePhase 3430143491-57-060877
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
7
DarunavirPhase 3200635728-49-3, 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
8
AbacavirPhase 3207136470-78-565140, 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
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
9dolutegravirPhase 31331051375-16-654726191
10
Secretin31108153-74-8
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
11
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
12pancreatin917
13
protease inhibitors5157
Synonyms:
 
protease inhibitors

Interventional clinical trials:

(show all 28)
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 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
5Efficacy, 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
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
7Efficacy, 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
8Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)CompletedNCT00288704Phase 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 StudyRecruitingNCT02853084Phase 2
16A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's DiseaseWithdrawnNCT01211977Phase 1, Phase 2
17The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
18Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
19Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
20Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress DisorderCompletedNCT01517672
21Kineret CAPS Post Authorisation StudyRecruitingNCT02326376
22Phenomics in Autoimmune and Inflammatory DiseasesRecruitingNCT02466217
23Studies 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
24Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsRecruitingNCT00933296
25A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic ProceduresRecruitingNCT01919359
26Simplification From Tenofovir Plus Lamivudine or Emtricitabine Plus Ritonavir-Boosted-Protease Inhibitor to Ritonavir-Boosted-Atazanavir Plus Lamivudine in Virologically-Suppressed-HIVInfected Adults With OsteopeniaRecruitingNCT02652793
27NT-proBNP in the Management of Discharged Patients With Acutely Decompensated Heart Failure and Preserved Ejection FractionRecruitingNCT02807168
28Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329

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:

34
Skin, Eye, Bone, Neutrophil, Heart, Pancreas

Animal Models for Cinca Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cinca Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1CASP1, IL1B, IL1R1, PYCARD, TNFRSF1A
2MP:00053907.6IL1B, IL1R1, IL1RN, MEFV, NLRP3, TNFRSF1A
3MP:00107717.1CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
4MP:00053876.6CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
5MP:00053976.4CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
6MP:00053766.0CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV

Publications for Cinca Syndrome

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Articles related to Cinca Syndrome:

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

68 (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)single nucleotide variantPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
2NLRP3NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn)single nucleotide variantPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
3NLRP3NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser)single nucleotide variantPathogenicrs121908154GRCh37Chr 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
1NLRP1 inflammasome complexGO:007255810.3CASP1, PYCARD
2AIM2 inflammasome complexGO:009716910.3CASP1, PYCARD
3NLRP3 inflammasome complexGO:007255910.0CASP1, NLRP3, PYCARD
4extracellular regionGO:00055766.9CASP1, 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 activityGO:200105610.5MEFV, PYCARD
2positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328010.3NLRP3, PYCARD
3positive regulation of activated T cell proliferationGO:004210410.2IL18, PYCARD
4positive regulation of interleukin-6 secretionGO:200077810.2IL1B, PYCARD
5response to bacteriumGO:000961710.1CASP1, PYCARD
6ovulationGO:003072810.0IL1B, IL1R1
7positive regulation of interleukin-1 beta secretionGO:005071810.0CASP1, NLRP3, PYCARD
8positive regulation of NF-kappaB import into nucleusGO:004234610.0IL18, IL1B
9lipopolysaccharide-mediated signaling pathwayGO:00316639.9IL18, IL1B
10cellular response to organic substanceGO:00713109.9CASP1, IL1B
11regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.8PYCARD, TNFRSF1A
12positive regulation of phagocytosisGO:00507669.7IL1B, PYCARD
13regulation of establishment of endothelial barrierGO:19031409.7IL1B, TNFRSF1A
14positive regulation of granulocyte macrophage colony-stimulating factor productionGO:00327259.7IL18, IL1B
15activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7CASP1, NLRP3, PYCARD
16positive regulation of NF-kappaB transcription factor activityGO:00510929.6IL1B, NLRP3, PYCARD
17positive regulation of interferon-gamma productionGO:00327299.6IL18, IL1B, PYCARD
18response to ATPGO:00331989.5CASP1, IL1B
19interleukin-1 beta productionGO:00326119.4CASP1, IL1B, NLRP3, PYCARD
20negative regulation of inflammatory responseGO:00507289.3MEFV, MVK, NLRP3, TNFRSF1A
21regulation of inflammatory responseGO:00507279.2CASP1, IL1R1, NLRP3, PYCARD
22regulation of apoptotic processGO:00429819.1CASP1, PYCARD, TNFRSF1A
23cellular response to mechanical stimulusGO:00712609.1CASP1, IL1B, TNFRSF1A
24positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1CASP1, IL1B, TNFRSF1A
25response to lipopolysaccharideGO:00324968.8CASP1, IL1B, TNFRSF1A
26apoptotic processGO:00069158.7CASP1, IL1B, NLRP3, PYCARD
27cytokine-mediated signaling pathwayGO:00192218.7IL1B, IL1R1, IL1RAPL2, TNFRSF1A
28immune responseGO:00069558.3IL18, IL1R1, IL1RN, TNFRSF1A
29inflammatory responseGO:00069547.9IL18, IL1B, MEFV, NLRP3, PYCARD, TNFRSF1A

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor activityGO:000490810.3IL1R1, IL1RAPL2
2cysteine-type endopeptidase activity involved in apoptotic processGO:009715310.0CASP1, PYCARD
3cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.5CASP1, PYCARD
4cytokine activityGO:00051258.8IL18, IL1B, IL1RN

Sources for Cinca Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet