MCID: CNC002
MIFTS: 53

Cinca Syndrome malady

Genetic diseases, Eye diseases, Bone diseases, Skin diseases, Blood diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Cinca Syndrome

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Sources:
49OMIM, 11diseasecard, 47Novoseek, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Cinca Syndrome:

Name: Cinca Syndrome 49 11 47 51 67
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 65
Chronic Infantile Neurologic Cutaneous and Articular Syndrome 67
Chronic Infantile Neurological Cutaneous Articular Syndrome 51
Infantile-Onset Multisystem Inflammatory Disease 51
Neonatal Onset Multisystem Inflammatory Disease 67
Neonatal-Onset Multisystem Inflammatory Disease 51
 
Cryopyrin-Associated Periodic Syndrome 3 67
Prieur-Griscelli Syndrome 51
Nomid Syndrome 51
Iomid Syndrome 51
Caps3 67
Nomid 67
Cinca 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
cinca syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 607115
Orphanet51 1451
ICD10 via Orphanet28 E85.0
MedGen34 C0409818
MeSH36 D056587

Summaries for Cinca Syndrome

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OMIM:49 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 asthma and muckle-wells 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 bone, neutrophil and eye, and related mouse phenotypes are digestive/alimentary and tumorigenesis.

UniProtKB/Swiss-Prot:67 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 177)
idRelated DiseaseScoreTop Affiliating Genes
1asthma29.8IL18, IL1B, IL1R1, IL1RN, NLRP3
2muckle-wells syndrome29.7CASP1, IL1B, IL1R1, IL1RN, MEFV, NLRP3
3rheumatoid arthritis29.5IL18, IL1B, IL1R1, IL1RN, TNFRSF1A
4wells syndrome10.7
5familial mediterranean fever, ar10.6
6child syndrome10.6
7skin conditions10.6
8skin disease10.6
9kid syndrome10.6
10good syndrome10.6
11skin tag10.6
12adult syndrome10.5
13eosinophilia, familial10.5
14familial cold autoinflammatory syndrome 310.5
15familial cold autoinflammatory syndrome 210.5
16autosomal dominant disease10.5
17autosomal genetic disease10.5
18cellulitis10.5
19connective tissue disease10.5
20eosinophilia10.5
21leukocyte disease10.5
22physical disorder10.5
23familial cold autoinflammatory syndrome10.5
24familial cold autoinflammatory syndrome 410.4
25c syndrome10.4
26arthritis10.4
27secondary syphilis10.4
28bone inflammation disease10.4
29bone structure disease10.4
30complex regional pain syndrome10.4
31encephalitis10.4
32exanthem10.4
33globe disease10.4
34learning disability10.4
35withdrawal disorder10.4
36genetic brain disorders10.4
37drug rash with eosinophilia and systemic symptoms10.4
38chronic infantile neurological cutaneous articular syndrome10.4
39glass syndrome10.3
40asthma 210.3
41brain small vessel disease with or without ocular anomalies10.3
42asthma 110.3
43masa syndrome10.3
44image syndrome10.3
45joint disorders10.3
46foster-kennedy syndrome10.3
47gamma chain deficiency10.3
48pharyngitis10.3
49neurogenic arthropathy10.3
50pseudopapilledema10.3

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:

 51 (show all 46)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • short hand/brachydactyly
  • urticaria
  • follicular/erythematous/edematous papules/milium
  • enanthema/aphtosa/aphta/leukoplakia
  • dermal/subcutaneous infiltration/induration
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • facial pain/cephalalgia/migraine
  • cranial hypertension
  • meningitis/meningeal syndrome
  • myalgia/muscular pain
  • bone/osseous hyperplasia
  • articular/joint pain/arthralgia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • fever/chilling
  • asthenia/fatigue/weakness
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • mild visual loss/impaired visual acuity
  • cutaneous edema
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • lymphadenopathy/polyadenopathies
  • neuritis/polyneuritis/multineuritis
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • bone tumefaction/swelling
  • arthritis/synovitis/synovial proliferation
  • joint/articular deformation
  • anaemia
  • hyperleukocytosis/leukocytosis
  • platelet disorders/thrombopathies
  • visual loss/blindness/amblyopia
  • purpura/petichiae
  • retrobulbar optic neuritis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • prematurity

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

Drugs & Therapeutics for Cinca Syndrome

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ritonavirapproved, investigationalPhase 3833155213-67-5392622
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
2
Abacavirapproved, investigationalPhase 3200136470-78-565140, 441300, 441300, 65140
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 Sulfate
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
3
Lamivudineapproved, investigationalPhase 3575134678-17-460825
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
3-TC
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 HBV
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714 X
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
4
Tenofovirapproved, investigationalPhase 3636147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)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 Fumarate
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
5
DarunavirapprovedPhase 3191635728-49-3, 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
6
DolutegravirapprovedPhase 31161051375-16-6
Synonyms:
 
Dolutegravir Sodium
Tivicay
7
Emtricitabineapproved, investigationalPhase 3381143491-57-060877
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
8
Tenofovir disoproxilPhase 3636201341-05-15481350
Synonyms:
201341-05-1
9-((R)-2-((Bis(((isopropoxycarbonyl)oxy)methoxy)phosphinyl)methoxy)propyl)adenine
9-[(R)-2-[[Bis[[(isopropoxycarbonyl)oxy] methoxy]phosphinyl]methoxy]propyl]adenine
AC1NUKHG
Bis(POC)PMPA
Bis(isopropyloxymethylcarbonyl) 9-(2-phosphonomethoxypropyl)adenine
Bis(isopropyloxymethylcarbonyl)PMPA
CHEMBL1538
 
CID5481350
GS 4331-05 (*1:1 Fumarate salt*)
LS-187012
LS-187786
PMPA prodrug
ST51052782
TDF
Tenofovir disoproxil
Viread(TM) (*1:1 Fumarate salt*)
[[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethyl-(propan-2-yloxycarbonyloxymethoxy)phosphoryl]oxymethyl propan-2-yl carbonate
9
Olanzapineapproved, investigationalPhase 1369132539-06-14585
Synonyms:
132539-06-1
2-Methyl-4-(4-methyl-1-piperazinyl)-10H-thieno(2,3-b)(1,5)benzodiazepine
2-Methyl-4-(4-methyl-1-piperazinyl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methyl-1-piperazinyl)-10 H -thieno[2,3- b ] [1,5]benzodiazepine
2-methyl-4-(4-methyl-1-piperazinyl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-5H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-5H-thieno[3,2-c][1,5]benzodiazepine
AC-665
AC1L1IHS
AKOS000282888
ALKS-7921
BIDD:GT0332
BIDD:PXR0138
Bio-0169
C07322
C076029
C17H20N4S
CHEBI:7735
CHEMBL715
CID4585
CPD000466345
D00454
DB00334
Eli Lilly brand of olanzapine
HMS2051H05
HMS2089M04
HMS2093I04
I06-0784
InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H
InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H3
Jsp001969
KS-1090
L000455
L005958
LS-152313
LY 170053
LY-170052
LY-170053
 
Lanzac
Lilly brand of olanzapine
MLS000759457
MLS001165781
MLS001195646
MLS001424057
Midax
MolPort-002-885-845
MolPort-003-666-569
MolPort-005-977-341
NCGC00096077-01
NCGC00096077-03
NCGC00096077-04
Olansek
Olanzapin
Olanzapina
Olanzapine
Olanzapine (JAN/USAN/INN)
Olanzapine (OLA)
Olanzapine [USAN:INN]
Olanzapine pamoate
Olanzapinum
S2493_Selleck
SAM001246652
SMR000466345
SPECTRUM1505024
STK634338
Symbyax
TL8000772
UNII-N7U69T4SZR
Zalasta
Zydis
Zyprexa
Zyprexa (TN)
Zyprexa Intramuscular
Zyprexa Velotab
Zyprexa Zydis
olanzapina
olanzapine
olanzapinum
10
Histamine PhosphateapprovedPhase 185251-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
EINECS 200-118-4
 
H0147
Histamine Positive Skin Test Control
Histamine Positive skin test control
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
11
BetahistineapprovedPhase 1165638-76-62366
Synonyms:
2-(beta-Methylaminoethyl)pyridine
2-[2-(Methylamino)ethyl]pyridine
Betahistina
 
Betahistinum
N-Methyl-2-(2-pyridinyl)ethanamine
N-Methyl-2-pyridineethanamine
[2-(2-Pyridyl)ethyl]methylamine
12
Vitamin Capproved, nutraceuticalPhase 139850-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
e 300
e-300
e300
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
13
SerotoninPhase 1285350-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
14LaxativesPhase 1278
15
histaminePhase 185275614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
16CatharticsPhase 1278
17Sodium sulfatePhase 117
18
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
19
Secretinapproved, investigational29108153-74-8
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
20pancreatin839

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1Efficacy 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
2Efficacy 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
3Efficacy, 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
4The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in CanadaCompletedNCT01105507Phase 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 DiseaseRecruitingNCT01576367Phase 3
6Impact of Extremely Early Antiretroviral Therapy to Reduce VIral REservoir and Induce Functional CURE of HIV-1 InfectionRecruitingNCT02588820Phase 3
7Multicenter Prospective Randomized Trial of the Effect of Rivaroxaban on Survival and Development of Complications of Portal Hypertension in Patients With CirrhosisNot yet recruitingNCT02643212Phase 3
8Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory DiseaseTerminatedNCT00770601Phase 3
9Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
10Pharmacodynamic Evaluation of Stool Output Following Oral Administration of Various Low Volume PEG3350-based Gut Cleansing Solutions Using the Split Dose Intake in Healthy SubjectsCompletedNCT01834742Phase 1
11Effects of Oral PEG 3350 on Electrolyte BalanceCompletedNCT00868985Phase 1
12Evaluation of Co-Administration of Betahistine as Adjunctive to Olanzapine in Healthy SubjectsCompletedNCT01168336Phase 1
13Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
14Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress DisorderCompletedNCT01517672
15Studies 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
16Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsRecruitingNCT01213641
17Simplification From Tenofovir Plus Lamivudine or Emtricitabine Plus Ritonavir-Boosted-Protease Inhibitor to Ritonavir-Boosted-Atazanavir Plus Lamivudine in Virologically-Suppressed-HIVInfected Adults With OsteopeniaRecruitingNCT02652793
18A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic ProceduresRecruitingNCT01919359
19Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsRecruitingNCT00933296
20Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329

Search NIH Clinical Center for Cinca Syndrome

Genetic Tests for Cinca Syndrome

About this section

Anatomical Context for Cinca Syndrome

About this section

MalaCards organs/tissues related to Cinca Syndrome:

33
Bone, Neutrophil, Eye, Skin, Liver

Animal Models for Cinca Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Cinca Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3CASP1, IL18, NLRP3, PYCARD, TNFRSF1A
2MP:00020068.0CASP1, IL1B, IL1R1, PYCARD, TNFRSF1A
3MP:00053908.0IL1B, IL1R1, IL1RN, MEFV, NLRP3, TNFRSF1A
4MP:00053847.5CASP1, IL18, IL1R1, IL1RN, MEFV, NLRP3
5MP:00107717.4CASP1, IL18, IL1R1, IL1RN, MEFV, NLRP3
6MP:00107686.8CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
7MP:00053766.3CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
8MP:00053876.3CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
9MP:00053976.2CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV

Publications for Cinca Syndrome

About this section

Articles related to Cinca Syndrome:

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

67 (show all 20)
id Symbol AA change Variation ID SNP ID
1NLRP3p.Asp305AsnVAR_014105
2NLRP3p.Phe311SerVAR_014106
3NLRP3p.Phe575SerVAR_014108
4NLRP3p.Thr350MetVAR_014366
5NLRP3p.His360ArgVAR_014367
6NLRP3p.Thr438AsnVAR_014368
7NLRP3p.Met664ThrVAR_014370
8NLRP3p.Tyr861CysVAR_023551
9NLRP3p.Ile174ThrVAR_043679
10NLRP3p.Arg262LeuVAR_043680
11NLRP3p.Arg262ProVAR_043681
12NLRP3p.Leu266HisVAR_043682
13NLRP3p.Asp305GlyVAR_043683
14NLRP3p.Gln308LysVAR_043684
15NLRP3p.Glu356AspVAR_043686
16NLRP3p.Thr407ProVAR_043687
17NLRP3p.Thr438IleVAR_043688
18NLRP3p.Phe525LeuVAR_043690
19NLRP3p.Tyr572CysVAR_043691
20NLRP3p.Leu634PheVAR_043692

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 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7IL18, IL1R1
29.3IL18, IL1B
39.0IL1B, IL1RN, NLRP3
4
Show member pathways
9.0IL18, IL1B, IL1R1
5
Apoptosis (WikiPathways)
Show member pathways
8.9IL18, IL1B, IL1R1
68.9CASP1, IL18, IL1B
78.9CASP1, IL18, IL1B
88.7CASP1, IL1B, NLRP3, PYCARD
98.7IL1B, IL1R1, TNFRSF1A
108.7IL1B, IL1R1, TNFRSF1A
11
Show member pathways
8.6CASP1, IL1B, IL1R1, IL1RN
128.5IL18, IL1B, TNFRSF1A
138.5CASP1, IL18, IL1B, PYCARD
14
Salmonella infection (KEGG)
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
15
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
168.3CASP1, IL1B, IL1R1, TNFRSF1A
17
Show member pathways
8.3CASP1, IL1B, IL1R1, TNFRSF1A
18
Apoptosis (KEGG)
Show member pathways
8.3CASP1, IL1B, IL1R1, TNFRSF1A
19
Show member pathways
7.9CASP1, IL18, IL1B, MEFV, NLRP3, PYCARD
20
Show member pathways
7.8CASP1, IL18, IL1B, IL1R1, TNFRSF1A
21
Show member pathways
7.4CASP1, IL18, IL1B, NLRP3, PYCARD, TNFRSF1A
22
Show member pathways
7.4CASP1, IL18, IL1B, IL1R1, IL1RN, NLRP3
23
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:007255810.2CASP1, PYCARD
2AIM2 inflammasome complexGO:009716910.2CASP1, PYCARD
3NLRP3 inflammasome complexGO:00725599.9CASP1, NLRP3, PYCARD
4extracellular regionGO:00055767.2CASP1, IL18, IL1B, IL1RN, NLRP3, TNFRSF1A

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cysteine-type endopeptidase activityGO:200105610.4MEFV, PYCARD
2positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328010.3NLRP3, PYCARD
3ovulationGO:003072810.3IL1B, IL1R1
4positive regulation of activated T cell proliferationGO:004210410.2IL18, PYCARD
5response to interleukin-1GO:007055510.1IL1R1, IL1RN
6inflammatory response to antigenic stimulusGO:000243710.1IL1B, IL1RN
7fever generationGO:000166010.0IL1B, IL1RN
8chronic inflammatory response to antigenic stimulusGO:000243910.0IL1B, IL1RN
9positive regulation of granulocyte macrophage colony-stimulating factor productionGO:003272510.0IL18, IL1B
10negative regulation of glutamate secretionGO:001405010.0IL1B, IL1RN
11positive regulation of JUN kinase activityGO:004350710.0IL1B, IL1RN
12positive regulation of interleukin-1 beta secretionGO:005071810.0CASP1, NLRP3, PYCARD
13positive regulation of NF-kappaB import into nucleusGO:004234610.0IL18, IL1B
14lipopolysaccharide-mediated signaling pathwayGO:00316639.9IL18, IL1B
15regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.9PYCARD, TNFRSF1A
16positive regulation of phagocytosisGO:00507669.9IL1B, PYCARD
17interleukin-1 beta productionGO:00326119.8CASP1, IL1B, NLRP3
18activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.8CASP1, NLRP3, PYCARD
19cellular response to organic substanceGO:00713109.8CASP1, IL1B
20response to organonitrogen compoundGO:00102439.8IL1B, IL1RN
21regulation of establishment of endothelial barrierGO:19031409.8IL1B, TNFRSF1A
22positive regulation of NF-kappaB transcription factor activityGO:00510929.7IL1B, NLRP3, PYCARD
23nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7CASP1, MEFV, NLRP3, PYCARD
24regulation of inflammatory responseGO:00507279.6CASP1, IL1R1, NLRP3
25positive regulation of interferon-gamma productionGO:00327299.6IL18, IL1B, PYCARD
26response to ATPGO:00331989.4CASP1, IL1B
27negative regulation of inflammatory responseGO:00507289.3MEFV, MVK, NLRP3, TNFRSF1A
28cellular response to lipopolysaccharideGO:00712229.1IL18, IL1B, NLRP3, PYCARD
29positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1CASP1, IL1B, TNFRSF1A
30cellular response to mechanical stimulusGO:00712609.0CASP1, IL1B, TNFRSF1A
31apoptotic processGO:00069158.8CASP1, IL1B, NLRP3, PYCARD
32cytokine-mediated signaling pathwayGO:00192218.5IL1B, IL1R1, IL1RAPL2, TNFRSF1A
33response to lipopolysaccharideGO:00324968.5CASP1, IL1B, IL1RN, TNFRSF1A
34innate immune responseGO:00450878.3CASP1, IL1B, MEFV, NLRP3, PYCARD
35immune responseGO:00069558.1IL18, IL1B, IL1R1, IL1RN, TNFRSF1A
36inflammatory responseGO:00069547.9IL18, IL1B, MEFV, NLRP3, PYCARD, TNFRSF1A
37signal transductionGO:00071656.9CASP1, IL1B, IL1R1, IL1RAPL2, NLRP3, PYCARD

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor activityGO:000490810.2IL1R1, IL1RAPL2
2interleukin-1 receptor bindingGO:00051499.7IL1B, IL1RN
3cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.3CASP1, PYCARD
4cytokine activityGO:00051258.8IL18, IL1B, IL1RN

Sources for Cinca Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet