CLCS
MCID: CLC008
MIFTS: 31

Colchicine Resistance (CLCS)

Categories: Genetic diseases

Aliases & Classifications for Colchicine Resistance

MalaCards integrated aliases for Colchicine Resistance:

Name: Colchicine Resistance 57 29 13 55 6 40 73
Colchicine Sensitivity; Clcs 57
Colchicine Sensitivity 57
Clcs 57

Classifications:



External Ids:

OMIM 57 120080
UMLS 73 C1861502

Summaries for Colchicine Resistance

MalaCards based summary : Colchicine Resistance, also known as colchicine sensitivity; clcs, is related to familial mediterranean fever and brucellosis. An important gene associated with Colchicine Resistance is ABCB1 (ATP Binding Cassette Subfamily B Member 1), and among its related pathways/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Hepatic ABC Transporters. The drugs Colchicine and Antimitotic Agents have been mentioned in the context of this disorder.

Description from OMIM: 120080

Related Diseases for Colchicine Resistance

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 familial mediterranean fever 10.2
2 brucellosis 10.2
3 chronic interstitial cystitis 10.1
4 bartter syndrome type 4 10.0
5 prostate cancer 9.9
6 colorectal cancer 9.9
7 allergic rhinitis 9.9
8 keratoconus 9.9
9 rhinitis 9.9
10 microsporidiosis 9.9 ABCB1 ABCC1
11 amyloidosis 9.8
12 uterine sarcoma 9.8 ABCB1 ABCC1
13 small cell cancer of the lung 9.7 ABCB1 ABCC1
14 melanoma 9.6
15 pericarditis 9.6
16 amyloidosis aa 9.6
17 leukemia, chronic myeloid 9.4 ABCB1 ABCC1

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3,Phase 2 64-86-8 6167 2833
2 Antimitotic Agents Phase 3,Phase 2
3 Antirheumatic Agents Phase 3,Phase 2
4 Interleukin 1 Receptor Antagonist Protein Phase 3
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunoglobulins 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 Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
3 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 29 ABCB1

Anatomical Context for Colchicine Resistance

Publications for Colchicine Resistance

Articles related to Colchicine Resistance:

(show all 29)
# 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
Enhanced stability of microtubules contributes in the development of colchicine resistance in MCF-7 cells. ( 28242250 )
2017
3
Can the Thiol/Disulfide Imbalance Be a Predictor of Colchicine Resistance in Familial Mediterranean Fever? ( 28875601 )
2017
4
Colchicine resistance and intolerance in familial mediterranean fever: Definition, causes, and alternative treatments. ( 28413100 )
2017
5
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial. ( 27825009 )
2016
6
Colchicine resistance and low vitamin D in familial Mediterranean fever. ( 26707648 )
2016
7
Association between colchicine resistance and vitamin D in familial Mediterranean fever. ( 26067744 )
2015
8
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. ( 25760087 )
2015
9
Colchicine-resistant familial Mediterranean fever in a renal transplantation patient: successful treatment with anakinra. ( 25852877 )
2014
10
Comparative analyses of the I^-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. ( 24083244 )
2013
11
Normal QT dispersion in colchicine-resistant familial Mediterranean fever (FMF). ( 22526475 )
2012
12
Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever. ( 20386914 )
2012
13
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. ( 23070486 )
2012
14
QT interval variability in familial Mediterranean fever: a study in colchicine-responsive and colchicine-resistant patients. ( 22271228 )
2012
15
Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. ( 19075317 )
2008
16
Interferon-alpha as a treatment modality for colchicine- resistant familial Mediterranean fever. ( 18528960 )
2008
17
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
18
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. ( 11284688 )
2001
19
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
20
The efficacy of interferon alpha on colchicine-resistant familial Mediterranean fever attacks: a pilot study. ( 9376975 )
1997
21
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. ( 7742775 )
1995
22
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. ( 3700481 )
1986
23
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. ( 7129432 )
1982
24
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. ( 7334053 )
1981
25
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. ( 490433 )
1979
26
Dominance of colchicine resistance in hybrid CHO cells. ( 566474 )
1978
27
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. ( 964308 )
1976
28
Colchicine resistance in mammalian cell lines. ( 165207 )
1975
29
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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.7 ABCB1 ABCC1
2
Show member pathways
11.63 ABCB1 ABCB11
3
Show member pathways
11.6 ABCB1 ABCB11
4
Show member pathways
11.44 ABCB1 ABCB11
5 11.35 ABCB1 ABCB11
6
Show member pathways
11.22 ABCB1 ABCC1
7
Show member pathways
11.06 ABCB1 ABCC1
8 10.98 ABCB1 ABCB11
9 10.77 ABCB1 ABCC1
10
Show member pathways
10.67 ABCB1 ABCC1
11 10.58 ABCB1 ABCC1
12 10.49 ABCB1 ABCB11
13 10.33 ABCB1 ABCC1
14 10.07 ABCB1 ABCC1
15 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 drug transmembrane transport GO:0006855 9.16 ABCB1 ABCC1
3 phospholipid translocation GO:0045332 8.96 ABCB1 ABCC1
4 xenobiotic transport GO:0042908 8.62 ABCB1 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 9.43 ABCB1 ABCB11 ABCC1
3 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.16 ABCB1 ABCC1
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.13 ABCB1 ABCB11 ABCC1
5 ATPase activity GO:0016887 8.92 ABCB1 ABCB11 ABCC1 DNAH8

Sources for Colchicine Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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