MCID: CNC002
MIFTS: 51

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:
49OMIM, 11diseasecard, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all MalaCards 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 51
Neonatal Onset Multisystem Inflammatory Disease 67
 
Cryopyrin-Associated Periodic Syndrome 3 67
Prieur-Griscelli Syndrome 51
Nomid Syndrome 51
Iomid Syndrome 51
Caps3 67
Nomid 67
Cinca 67

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

OMIM49 607115
Orphanet51 1451
ICD10 via Orphanet28 E85.0
MedGen34 C0409818
MeSH36 D056587
UMLS65 C0409818

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 familial cold-induced inflammatory syndrome 1 and chronic infantile neurological cutaneous articular 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, bone 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.

Genetics Home Reference:23 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold-induced inflammatory syndrome 129.1CASP1, IL1B, IL1R1, MEFV, NLRP3, TNFRSF1A
2chronic infantile neurological cutaneous articular syndrome11.9
3psychosocial short stature10.4MEFV, NLRP3
4gingivitis10.3
5mycobacterium fortuitum10.3
6neonatal adrenoleukodystrophy10.2IL1R1, IL1RN
7collagen vi related muscular dystrophy10.2IL1R1, IL1RAPL2, NLRP3
8gastric leiomyosarcoma10.2IL1RN, MEFV
9peripheral artery disease10.2IL1RN, MEFV
10female breast central part cancer10.2IL1RAPL2, IL1RN
11peripheral retinal degeneration10.2IL1B, NLRP3
12cerebrotendinous xanthomatosis10.2
13acute leukemia10.2
14leukemia10.2
15asperger syndrome10.2
16vitamin b12 deficiency10.2
17mumps10.2
18emery-dreifuss muscular dystrophy10.2
19neuroendocrine tumor10.2
20lateral sclerosis10.2
21cervicitis10.2
22lipomatosis10.2
23rhabdomyosarcoma10.2
24xanthomatosis10.2
25craniopharyngioma10.2
26measles10.2
27rubella10.2
28muscular dystrophy10.2
29cervical intraepithelial neoplasia10.2
30encephalocraniocutaneous lipomatosis10.2
31hemicrania continua10.2
32cryptomicrotia brachydactyly syndrome10.1IL1R1, IL1RN, NLRP3
33intracranial embolism10.1IL1R1, IL1RN, NLRP3
34bacterial exanthem10.1IL1RN, NLRP3
35gonadal disease10.1IL1B, MEFV
36precursor b lymphoblastic lymphoma/leukemia10.1IL1R1, TNFRSF1A
37gastric cancer risk after h. pylori infection10.1IL1B, IL1RN
38t cell immunodeficiency primary10.1IL1R1, IL1RN, MEFV
39stalker chitayat syndrome10.1IL18, IL1B
40neonatal intrahepatic cholestasis due to citrin deficiency10.1MEFV, TNFRSF1A
41non-immunoglobulin-mediated membranoproliferative glomerulonephritis10.1MEFV, TNFRSF1A
42refractory plasma cell neoplasm10.0IL1B, IL1RN
43meningoencephalocele10.0IL1B, IL1RN
44melorheostosis10.0NLRP3, TNFRSF1A
45labyrinthine unilateral reactive loss10.0IL18, IL1RN
46tuberculoid leprosy10.0IL1RN, MEFV
47idiopathic spinal cord herniation10.0IL1B, IL1RN
48common cold10.0CASP1, PYCARD
49dentin caries10.0IL18, IL1B
50leech infestation10.0IL1RN, MEFV

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 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AntibodiesPhase 34477
2VaccinesPhase 36085
3Immunologic FactorsPhase 318483
4Antibodies, MonoclonalPhase 32413
5ImmunoglobulinsPhase 34477
6
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
7
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
8
Emtricitabineapproved, investigational394143491-57-060877
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
9
Lamivudineapproved, investigational594134678-17-460825
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
10
Ritonavirapproved, investigational850155213-67-5392622
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
11
Tenofovirapproved, investigational666147127-20-6464205
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
12pancreatin880
13Hormones, Hormone Substitutes, and Hormone Antagonists9988
14Gastrointestinal Agents6401
15Hormone Antagonists10002
16Hormones11748
17HIV Protease Inhibitors4558
18Reverse Transcriptase Inhibitors1656
19Protease Inhibitors4558
20Nucleic Acid Synthesis Inhibitors3836
21Vitamins3857
22Anti-Infective Agents17220
23Contraceptives, Oral3734
24Anti-Retroviral Agents2794
25Antiviral Agents8071
26Cytochrome P-450 CYP3A Inhibitors1421
27Atazanavir Sulfate222
28Cytochrome P-450 Enzyme Inhibitors3036

Interventional clinical trials:

(show all 15)
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 DiseaseCompletedNCT01576367Phase 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
5The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in CanadaCompletedNCT01105507Phase 3
6Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory DiseaseTerminatedNCT00770601Phase 3
7Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
8Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
9Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
10Imaging Outcomes of Cognitive Behavioral Therapy (CBT) for Battered Women With Posttraumatic Stress DisorderCompletedNCT01517672
11A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic ProceduresRecruitingNCT01919359
12Studies 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
13Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsRecruitingNCT00933296
14Simplification From Tenofovir Plus Lamivudine or Emtricitabine Plus Ritonavir-Boosted-Protease Inhibitor to Ritonavir-Boosted-Atazanavir Plus Lamivudine in Virologically-Suppressed-HIVInfected Adults With OsteopeniaRecruitingNCT02652793
15Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329

Search NIH Clinical Center for Cinca Syndrome

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:

33
Skin, Bone, Eye, Neutrophil, Liver, Pancreas, Colon

Animal Models for Cinca Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cinca Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3CASP1, IL18, NLRP3, PYCARD, TNFRSF1A
2MP:00020068.3CASP1, IL1B, IL1R1, PYCARD, TNFRSF1A
3MP:00053907.5IL1B, IL1R1, IL1RN, MEFV, NLRP3, TNFRSF1A
4MP:00107717.0CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
5MP:00053766.5CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
6MP:00053876.3CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV
7MP:00053976.3CASP1, IL18, IL1B, IL1R1, IL1RN, MEFV

Publications for Cinca Syndrome

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Articles related to Cinca Syndrome:

(show all 23)
idTitleAuthorsYear
1
Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report. (26622120)
2015
2
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)
2014
3
Periorificial dermatitis and erosive inguinal plaques in a 57-year-old woman. Acquired zinc deficiency acrodermatitis enteropathica (ADE). (23552816)
2013
4
Identification of prognostic factors predicting outcome in Hodgkin's lymphoma patients relapsing after autologous stem cell transplantation. (23712545)
2013
5
Inflammatory myofibroblastic tumor of the small bowel. (23650787)
2013
6
Prospective prediction of suicide in a nationally representative sample: religious service attendance as a protective factor. (24115346)
2013
7
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
8
Association of LEP and ADIPOQ common variants with colorectal cancer in Mexican patients. (21263187)
2010
9
Profilin1 regulates PI(3,4)P2 and lamellipodin accumulation at the leading edge thus influencing motility of MDA-MB-231 cells. (21115820)
2010
10
Hyperhomocysteinemia as an independent risk factor for cardioembolic stroke in the Turkish population. (19638733)
2009
11
Dopamine enhances fast excitatory synaptic transmission in the extended amygdala by a CRF-R1-dependent process. (19091975)
2008
12
Prophylactic mirtazapine reduces intrathecal morphine-induced pruritus. (18713761)
2008
13
Amine mediated proton transfer reaction and C-Cl bond activation of solvent chloroform by a trinuclear copper(II) complex of a glucopyranosylamine derived ligand. (16883400)
2006
14
Vascular endothelial growth factor and p53 expressions in liver and abdominal metastases from colon cancer. (12853702)
2003
15
Dyslipidemia and cardiovascular risk in type 2 diabetes mellitus patients with associated diabetic nephropathy]. (11987671)
2002
16
Images in clinical medicine. Neonatal rash due to herpes gestationis. (12200553)
2002
17
HTLV-I Tax transrepresses the human c-Myb promoter independently of its interaction with CBP or p300. (10815807)
2000
18
Endomembrane trafficking of ras: the CAAX motif targets proteins to the ER and Golgi. (10412982)
1999
19
Selenium as a modifier of antioxidant protection and lipid peroxidation in microclones of Arnica montana L. as affected by C-range ultraviolet rays]. (9606837)
1997
20
Candida epiglottitis in an adult with acquired immunodeficiency syndrome treated with oral fluconazole. (7782695)
1995
21
Effect of treatment on the jejunal and colonic bacterial flora of dogs with exocrine pancreatic insufficiency. (8302792)
1993
22
Reciprocal expression of human ETS1 and ETS2 genes during T-cell activation: regulatory role for the protooncogene ETS1. (2187191)
1990
23
UDPgalactose:glucosylceramide beta 1->4-galactosyltransferase activity in human proximal tubular cells from normal and familial hypercholesterolemic homozygotes. (3099851)
1987

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 22)
idSuper pathwaysScoreTop Affiliating Genes
19.7IL18, IL1R1
29.3IL18, IL1B
39.0IL1B, IL1RN, NLRP3
4
Show member pathways
9.0IL18, IL1B, IL1R1
59.0IL18, 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
13
Show member pathways
8.5IL18, IL1B, TNFRSF1A
14
Show member pathways
8.5CASP1, IL18, IL1B, PYCARD
158.5CASP1, IL18, IL1B, PYCARD
168.3CASP1, IL1B, IL1R1, TNFRSF1A
17
Show member pathways
8.3CASP1, IL1B, IL1R1, TNFRSF1A
18
Show member pathways
7.9CASP1, IL18, IL1B, MEFV, NLRP3, PYCARD
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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Biological processes related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cysteine-type endopeptidase activityGO:200105610.3MEFV, PYCARD
2positive regulation of interleukin-6 secretionGO:200077810.1IL1B, PYCARD
3ovulationGO:003072810.1IL1B, IL1R1
4response to ATPGO:003319810.0CASP1, IL1B
5positive regulation of interleukin-1 beta secretionGO:00507189.9CASP1, NLRP3, PYCARD
6positive regulation of granulocyte macrophage colony-stimulating factor productionGO:00327259.8IL18, IL1B
7nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.8CASP1, NLRP3, PYCARD
8positive regulation of interleukin-6 productionGO:00327559.7IL1B, PYCARD
9interleukin-1 beta productionGO:00326119.7CASP1, IL1B, NLRP3
10regulation of establishment of endothelial barrierGO:19031409.7IL1B, TNFRSF1A
11lipopolysaccharide-mediated signaling pathwayGO:00316639.6IL18, IL1B
12positive regulation of NF-kappaB transcription factor activityGO:00510929.4IL1B, NLRP3, PYCARD
13positive regulation of interferon-gamma productionGO:00327299.4IL18, IL1B, PYCARD
14cytokine-mediated signaling pathwayGO:00192219.2IL1B, IL1R1, TNFRSF1A
15cellular response to mechanical stimulusGO:00712608.8CASP1, IL1B, TNFRSF1A
16signal transductionGO:00071658.2CASP1, IL1R1, NLRP3, PYCARD, TNFRSF1A
17inflammatory responseGO:00069547.8IL18, IL1B, NLRP3, PYCARD, TNFRSF1A

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