MCID: CLC008
MIFTS: 31

Colchicine Resistance malady

Category: Genetic diseases (common)

Aliases & Classifications for Colchicine Resistance

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Sources:
49OMIM, 11diseasecard, 47Novoseek, 24GTR, 65UMLS
See all MalaCards sources

Aliases & Descriptions for Colchicine Resistance:

Name: Colchicine Resistance 49 11 47 24 65

Classifications:



External Ids:

OMIM49 120080
UMLS65 C1861502

Summaries for Colchicine Resistance

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MalaCards based summary: Colchicine Resistance is related to penis basal cell carcinoma and acute pancreatitis. An important gene associated with Colchicine Resistance is ABCB1 (ATP Binding Cassette Subfamily B Member 1), and among its related pathways are Bile secretion and Nuclear receptors in lipid metabolism and toxicity. Affiliated tissues include cerebellum, skin and breast.

Description from OMIM:49 120080

Related Diseases for Colchicine Resistance

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Graphical network of diseases related to Colchicine Resistance:



Diseases related to colchicine resistance

Symptoms 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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColchicineapprovedPhase 3, Phase 2, Phase 110464-86-86167, 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
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
Mitigare
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
SID26747941
SID49671357
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 14296
3Tubulin ModulatorsPhase 3, Phase 2, Phase 14279
4Antirheumatic AgentsPhase 3, Phase 2, Phase 18496
5Immunologic FactorsPhase 218483
6ImmunoglobulinsPhase 24477
7Antibodies, MonoclonalPhase 22413
8AntibodiesPhase 24477

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
3Effects of Colchicine in Non-Diabetic Adults With Metabolic SyndromeRecruitingNCT02153983Phase 1, Phase 2

Search NIH Clinical Center for Colchicine Resistance

Genetic Tests for Colchicine Resistance

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Anatomical Context for Colchicine Resistance

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MalaCards organs/tissues related to Colchicine Resistance:

33
Cerebellum, Skin, Breast, Prostate, Endothelial, Neutrophil, Pituitary

Animal Models for Colchicine Resistance or affiliated genes

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Publications for Colchicine Resistance

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Articles related to Colchicine Resistance:

(show all 22)
idTitleAuthorsYear
1
Colchicine resistance and low vitamin D in familial Mediterranean fever. (26707648)
2016
2
Association between colchicine resistance and vitamin D in familial Mediterranean fever. (26067744)
2015
3
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. (25760087)
2015
4
Colchicine-resistant familial Mediterranean fever in a renal transplantation patient: successful treatment with anakinra. (25852877)
2014
5
Comparative analyses of the I^-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. (24083244)
2013
6
Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever. (20386914)
2012
7
Normal QT dispersion in colchicine-resistant familial Mediterranean fever (FMF). (22526475)
2012
8
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. (23070486)
2012
9
QT interval variability in familial Mediterranean fever: a study in colchicine-responsive and colchicine-resistant patients. (22271228)
2012
10
Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. (19075317)
2008
11
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
12
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. (11284688)
2001
13
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
14
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. (7742775)
1995
15
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. (3700481)
1986
16
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. (7129432)
1982
17
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. (7334053)
1981
18
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. (490433)
1979
19
Dominance of colchicine resistance in hybrid CHO cells. (566474)
1978
20
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. (964308)
1976
21
Colchicine resistance in mammalian cell lines. (165207)
1975
22
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)single nucleotide variantPathogenicrs1128501GRCh37Chr 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
19.4ABCB1, ABCB11
29.4ABCB1, ABCB11
3
Show member pathways
9.4ABCB1, ABCB11
49.4ABCB1, ABCB11
5
Show member pathways
9.4ABCB1, ABCB11
6
Show member pathways
9.2ABCB1, ABCC1
7
Show member pathways
9.2ABCB1, ABCC1
8
Show member pathways
9.2ABCB1, ABCC1
99.2ABCB1, ABCC1
109.2ABCB1, ABCC1
119.2ABCB1, ABCC1
129.2ABCB1, ABCC1
13
Show member pathways
9.2ABCB1, ABCC1
14
Show member pathways
8.6ABCB1, ABCB11, ABCC1

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
1transportGO:00068109.3ABCB1, ABCB11
2response to drugGO:00424939.2ABCB1, ABCC1

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.3ABCB11, DNAH8
2transporter activityGO:00052158.7ABCB11, ABCC1

Sources for Colchicine Resistance

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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