MCID: CLC008
MIFTS: 29

Colchicine Resistance malady

Category: Genetic diseases (common)

Aliases & Classifications for Colchicine Resistance

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Sources:
12diseasecard, 27GTR, 50Novoseek, 52OMIM, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Colchicine Resistance:

Name: Colchicine Resistance 52 27 12 50 68

Classifications:



External Ids:

OMIM52 120080

Summaries for Colchicine Resistance

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MalaCards based summary: Colchicine Resistance is related to nodular basal cell carcinoma and testicular fibroma. An important gene associated with Colchicine Resistance is ABCB1 (ATP Binding Cassette Subfamily B Member 1), and among its related pathways are Vinka Alkaloid Pathway, Pharmacokinetics and Doxorubicin Pathway, Pharmacokinetics.

Description from OMIM:52 120080

Related Diseases for Colchicine Resistance

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Diseases related to Colchicine Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nodular basal cell carcinoma10.0ABCB1, ABCC1
2testicular fibroma10.0ABCB1, ABCC1
3bleeding disorder, platelet-type, 1810.0ABCB1, ABCC1
4van regemorter pierquin vamos syndrome9.9ABCB1, ABCC1
5cryoglobulinemia9.9ABCB1, ABCC1
6amyloidosis9.7
7pericarditis9.6
8deafness, autosomal recessive 399.3ABCB1, ABCB11, ABCC1, DNAH8, MEFV

Graphical network of diseases related to Colchicine Resistance:



Diseases related to colchicine resistance

Symptoms & Phenotypes for Colchicine Resistance

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Clinical features from OMIM:

120080

Drugs & Therapeutics for Colchicine Resistance

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Drugs for Colchicine Resistance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColchicineapprovedPhase 3, Phase 2, Phase 111564-86-86167, 2833
Synonyms:
(S)-N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[a]heptalen-7-yl)acetamide
30512-31-3
5843-86-7
64-86-8
7-alpha-H-Colchicine
7.alpha.H-Colchicine
7alphaH-Colchicine
AC1L1LXO
ACon1_000353
AI3-31149
AKOS001582887
BB_NC-0737
BPBio1_000535
BRD-K00259736-001-06-5
BSPBio_000485
BSPBio_002083
Benzo(a)heptalen-9(5H)-one
C 9754
C07592
C22H25NO6
C3915_SIGMA
C9754_SIGMA
CCRIS 691
CHEBI:27882
CHEMBL107
CID6167
CPD-9785
Colchicin
Colchicin [German]
Colchicina
Colchicina [Italian]
Colchicine (JP15/USP)
Colchicine (TN)
Colchicine [JAN]
Colchicine, (+-)-Isomer
Colchicine, (R)-Isomer
Colchicine, Colchicum autumnale
Colchicinum
Colchineos
Colchisol
Colchysat
Colcin
Colcrys
Colsaloid
Colstat
Condylon
D003078
D00570
DB01394
DB08117
DivK1c_000753
EINECS 200-598-5
EU-0100310
Goutnil
HMS1569I07
HMS1920A08
HMS2091G16
HMS502F15
HSDB 3044
IDI1_000753
KBio1_000753
KBio2_001322
KBio2_003890
 
KBio2_006458
KBio3_001303
KBioGR_000856
KBioSS_001322
Kolkicin
LOC
LS-279
Lopac0_000310
MEGxp0_001879
MLS001055448
MLS001055448-02
MLS001304089
MLS002153786
MPC-004
MolPort-001-742-594
N-((7S)-5,6,7,9-tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo(a)heptalen-7-yl)- acetamide
N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo(a)heptalen-7-yl)acetamide
N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[.alpha.]heptalen-7-yl)-acetamide
N-Acetyl trimethylcolchicinic acid methylether
N-[(7S)-1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl]acetamide
N-[(7S)-1,2,3,10-tetramethoxy-9-oxo-6,7-dihydro-5H-benzo[a]heptalen-7-yl]acetamide
N-[(7S)-5,6,7,9-tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[a]heptalen-7-yl]acetamide
NCGC00025125-01
NCGC00025125-02
NCGC00025125-03
NCGC00025125-04
NCGC00025125-05
NCGC00025125-06
NCGC00025125-07
NCGC00025125-11
NCGC00169157-01
NCGC00169157-02
NCGC00169157-03
NCI60_041659
NChemBio.2007.10-comp20
NINDS_000753
NSC 757
NSC757
Prestwick0_000363
Prestwick1_000363
Prestwick2_000363
Prestwick3_000363
Prestwick_695
S2284_Selleck
SDCCGMLS-0066633.P001
SMR000058323
SPBio_000289
SPBio_002406
SPECTRUM1500205
Spectrum2_000075
Spectrum3_000362
Spectrum4_000298
Spectrum5_000787
Spectrum_000842
Tocris-1364
UNII-SML2Y3J35T
UPCMLD-DP065
UPCMLD-DP065:001
WLN: L B677 MV&T&J CO1 DO1 EO1 JMV1 NO1
ZINC00621853
binds to tubulin
colchicine
inhibits microtubular assembly
nchembio853-comp2
spindle poison
2Antimitotic AgentsPhase 3, Phase 2, Phase 15657
3Interleukin 1 Receptor Antagonist ProteinPhase 399
4Antirheumatic AgentsPhase 3, Phase 2, Phase 110956
5ImmunoglobulinsPhase 26394
6AntibodiesPhase 26394
7Antibodies, MonoclonalPhase 24039

Interventional clinical trials:

idNameStatusNCT IDPhase
1Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean FeverCompletedNCT01705756Phase 3
2Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean FeverCompletedNCT01088880Phase 2
3Evaluate the Safety and Efficacy of Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever (FMF)CompletedNCT01148797Phase 2
4Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
5Effects of Colchicine in Non-Diabetic Adults With Metabolic SyndromeRecruitingNCT02153983Phase 1, Phase 2
6Oral Colchicine in Men With Castrate Resistant Prostate CancerWithdrawnNCT01481233Phase 2
7Tocilizumab for the Treatment of Behcet's SyndromeTerminatedNCT01693653

Search NIH Clinical Center for Colchicine Resistance

Genetic Tests for Colchicine Resistance

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Genetic tests related to Colchicine Resistance:

id Genetic test Affiliating Genes
1 Colchicine Resistance27

Anatomical Context for Colchicine Resistance

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Publications for Colchicine Resistance

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Articles related to Colchicine Resistance:

(show all 23)
idTitleAuthorsYear
1
Colchicine resistance and low vitamin D in familial Mediterranean fever. (26707648)
2016
2
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial. (27825009)
2016
3
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. (25760087)
2015
4
Association between colchicine resistance and vitamin D in familial Mediterranean fever. (26067744)
2015
5
Colchicine-resistant familial Mediterranean fever in a renal transplantation patient: successful treatment with anakinra. (25852877)
2014
6
Comparative analyses of the I^-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. (24083244)
2013
7
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. (23070486)
2012
8
QT interval variability in familial Mediterranean fever: a study in colchicine-responsive and colchicine-resistant patients. (22271228)
2012
9
Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever. (20386914)
2012
10
Normal QT dispersion in colchicine-resistant familial Mediterranean fever (FMF). (22526475)
2012
11
Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. (19075317)
2008
12
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? (14679589)
2004
13
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. (11284688)
2001
14
Coordinated regulation of P-glycoprotein activity and cytochrome P-4501A induction in sublines of rat hepatoma McA RH7777 cells with different levels of colchicine resistance. (10367566)
1998
15
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. (7742775)
1995
16
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. (3700481)
1986
17
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. (7129432)
1982
18
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. (7334053)
1981
19
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. (490433)
1979
20
Dominance of colchicine resistance in hybrid CHO cells. (566474)
1978
21
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. (964308)
1976
22
Colchicine resistance in mammalian cell lines. (165207)
1975
23
Nature of colchicine resistance in golden hamster. (13668535)
1959

Variations for Colchicine Resistance

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Clinvar genetic disease variations for Colchicine Resistance:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB1NM_ 000927.4(ABCB1): c.554G> T (p.Gly185Val)SNVPathogenicrs1128501GRCh37Chr 7, 87195534: 87195534

Expression for genes affiliated with Colchicine Resistance

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Search GEO for disease gene expression data for Colchicine Resistance.

Pathways for genes affiliated with Colchicine Resistance

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Pathways related to Colchicine Resistance according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.5ABCB1, ABCC1
2
Show member pathways
9.5ABCB1, ABCC1
3
Show member pathways
9.5ABCB1, ABCC1
4
Show member pathways
9.5ABCB1, ABCC1
5
Show member pathways
9.5ABCB1, ABCC1
69.5ABCB1, ABCC1
79.5ABCB1, ABCC1
89.5ABCB1, ABCC1
99.5ABCB1, ABCC1
109.4ABCB1, ABCB11
11
Show member pathways
9.4ABCB1, ABCB11
12
Show member pathways
9.4ABCB1, ABCB11
139.4ABCB1, ABCB11
149.4ABCB1, ABCB11

GO Terms for genes affiliated with Colchicine Resistance

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Biological processes related to Colchicine Resistance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1drug transmembrane transportGO:000685510.2ABCB1, ABCC1
2ATP hydrolysis coupled anion transmembrane transportGO:009913310.0ABCB11, ABCC1
3xenobiotic transportGO:00429089.5ABCB1, ABCC1
4transmembrane transportGO:00550859.1ABCB1, ABCB11, ABCC1

Molecular functions related to Colchicine Resistance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1xenobiotic-transporting ATPase activityGO:00085599.5ABCB1, ABCC1
2ATPase activity, coupled to transmembrane movement of substancesGO:00426269.5ABCB1, ABCB11, ABCC1
3transporter activityGO:00052159.1ABCB1, ABCB11, ABCC1
4ATP bindingGO:00055249.0ABCB1, ABCB11, ABCC1, DNAH8
5ATPase activityGO:00168878.9ABCB1, ABCB11, ABCC1, DNAH8

Sources for Colchicine Resistance

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