MCID: CLC008
MIFTS: 36

Colchicine Resistance

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Colchicine Resistance

MalaCards integrated aliases for Colchicine Resistance:

Name: Colchicine Resistance 58 30 13 56 6 41 74
Colchicine Sensitivity; Clcs 58
Resistance to Colchicine 60
Colchicine Sensitivity 58
Clcs 58

Classifications:



External Ids:

OMIM 58 120080
Orphanet 60 ORPHA529825
UMLS 74 C1861502

Summaries for Colchicine Resistance

MalaCards based summary : Colchicine Resistance, also known as colchicine sensitivity; clcs, is related to familial mediterranean fever and bartter disease. An important gene associated with Colchicine Resistance is ABCB1 (ATP Binding Cassette Subfamily B Member 1), and among its related pathways/superpathways are Hepatic ABC Transporters and Statin Pathway. The drugs Colchicine and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, cervix and prostate.

Description from OMIM: 120080

Related Diseases for Colchicine Resistance

Graphical network of the top 20 diseases related to Colchicine Resistance:



Diseases related to Colchicine Resistance

Symptoms & Phenotypes for Colchicine Resistance

Clinical features from OMIM:

120080

Drugs & Therapeutics for Colchicine Resistance

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3,Phase 2 64-86-8 2833 6167
2 Antimitotic Agents Phase 3,Phase 2
3 Interleukin 1 Receptor Antagonist Protein Phase 3
4 Antirheumatic Agents Phase 3,Phase 2
5 Immunoglobulins Phase 2
6 Antibodies Phase 2
7 Immunologic Factors Phase 2
8 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
2 Colchicine for Patients With Chagas´ Disease( B1 Stage) Recruiting NCT03704181 Phase 2 Colchicine 0.5 MG twice day for one year;Placebo Oral Tablet
3 Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
4 Colchicine Levels in the Serum of FMF (Familial Mediterranean Fever) Patients Recruiting NCT03210610

Search NIH Clinical Center for Colchicine Resistance

Genetic Tests for Colchicine Resistance

Genetic tests related to Colchicine Resistance:

# Genetic test Affiliating Genes
1 Colchicine Resistance 30 ABCB1

Anatomical Context for Colchicine Resistance

MalaCards organs/tissues related to Colchicine Resistance:

42
Lung, Cervix, Prostate, Myeloid

Publications for Colchicine Resistance

Articles related to Colchicine Resistance:

(show all 24)
# Title Authors Year
1
Blood group 'A' may have a possible modifier effect on familial Mediterranean fever and blood group '0' may be associated with colchicine resistance. ( 29873519 )
2018
2
Which definition should be used to determine colchicine resistance among patients with familial Mediterranean fever? ( 30418112 )
2018
3
Enhanced stability of microtubules contributes in the development of colchicine resistance in MCF-7 cells. ( 28242250 )
2017
4
Colchicine resistance and intolerance in familial mediterranean fever: Definition, causes, and alternative treatments. ( 28413100 )
2017
5
Can the Thiol/Disulfide Imbalance Be a Predictor of Colchicine Resistance in Familial Mediterranean Fever? ( 28875601 )
2017
6
Colchicine resistance and low vitamin D in familial Mediterranean fever. ( 26707648 )
2016
7
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial. ( 27825009 )
2016
8
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. ( 25760087 )
2015
9
Association between colchicine resistance and vitamin D in familial Mediterranean fever. ( 26067744 )
2015
10
Comparative analyses of the β-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. ( 24083244 )
2013
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
Molecular basis of preferential resistance to colchicine in multidrug-resistant human cells conferred by Gly-185----Val-185 substitution in P-glycoprotein. ( 1976255 )
1990
16
An altered pattern of cross-resistance in multidrug-resistant human cells results from spontaneous mutations in the mdr1 (P-glycoprotein) gene. ( 2897240 )
1988
17
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. ( 3700481 )
1986
18
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. ( 7129432 )
1982
19
Persistence of colchicine resistance in Ehrlich-Lettré ascites tumors and cell strains. ( 7334053 )
1981
20
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. ( 490433 )
1979
21
Dominance of colchicine resistance in hybrid CHO cells. ( 566474 )
1978
22
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. ( 964308 )
1976
23
Colchicine resistance in mammalian cell lines. ( 165207 )
1975
24
Nature of colchicine resistance in golden hamster. ( 13668535 )
1959

Variations for Colchicine Resistance

ClinVar genetic disease variations for Colchicine Resistance:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB1 NM_000927.4(ABCB1): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs1128501 GRCh37 Chromosome 7, 87195534: 87195534
2 ABCB1 NM_000927.4(ABCB1): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs1128501 GRCh38 Chromosome 7, 87566218: 87566218

Expression for Colchicine Resistance

Search GEO for disease gene expression data for Colchicine Resistance.

Pathways for Colchicine Resistance

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 ABCB1 ABCB11
2
Show member pathways
11.58 ABCB1 ABCB11
3
Show member pathways
11.55 ABCB1 ABCB11
4 11.33 ABCB1 ABCB11
5
Show member pathways
11.06 ABCB1 ABCC1
6 10.98 ABCB1 ABCB11
7 10.77 ABCB1 ABCC1
8
Show member pathways
10.67 ABCB1 ABCC1
9 10.58 ABCB1 ABCC1
10 10.49 ABCB1 ABCB11
11 10.33 ABCB1 ABCC1
12 10.07 ABCB1 ABCC1
13 9.62 ABCB1 ABCC1

GO Terms for Colchicine Resistance

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.43 ABCB1 ABCB11 ABCC1
2 phospholipid translocation GO:0045332 9.16 ABCB1 ABCC1
3 drug transmembrane transport GO:0006855 8.65 ABCC1
4 xenobiotic transport GO:0042908 8.32 ABCC1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.62 ABCB1 ABCB11 ABCC1 DNAH8
2 transporter activity GO:0005215 9.33 ABCB1 ABCB11 ABCC1
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.13 ABCB1 ABCB11 ABCC1
4 xenobiotic transmembrane transporting ATPase activity GO:0008559 8.96 ABCC1
5 ATPase activity GO:0016887 8.8 ABCB1 ABCB11 ABCC1

Sources for Colchicine Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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