CLCS
MCID: CLC008
MIFTS: 34

Colchicine Resistance (CLCS)

Categories: Genetic diseases

Aliases & Classifications for Colchicine Resistance

MalaCards integrated aliases for Colchicine Resistance:

Name: Colchicine Resistance 56 29 13 54 6 39 71
Colchicine Sensitivity; Clcs 56
Colchicine Sensitivity 56
Clcs 56

Classifications:



External Ids:

OMIM 56 120080
UMLS 71 C1861502

Summaries for Colchicine Resistance

MalaCards based summary : Colchicine Resistance, also known as colchicine sensitivity; clcs, is related to bartter disease and familial mediterranean fever. 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: Anatomy and Hepatic ABC Transporters. The drugs Colchicine and Interleukin 1 Receptor Antagonist Protein have been mentioned in the context of this disorder. Affiliated tissues include small intestine, kidney and ovary.

More information from OMIM: 120080

Related Diseases for Colchicine Resistance

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 bartter disease 10.7
2 familial mediterranean fever 10.6
3 brucellosis 10.6
4 branchiootic syndrome 1 10.6
5 myotonia 10.6
6 osteopetrosis 10.5
7 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.5
8 bartter syndrome type 4 10.5
9 nephrolithiasis 10.5
10 nephrolithiasis, calcium oxalate 10.4
11 chronic interstitial cystitis 10.4
12 helix syndrome 10.4
13 myotonia congenita 10.4
14 amyloidosis 10.4
15 yemenite deaf-blind hypopigmentation syndrome 10.3
16 leukodystrophy 10.3
17 lysosomal storage disease 10.3
18 dent disease 1 10.3
19 male infertility 10.3
20 tularemia 10.3
21 prostate cancer 10.3
22 papillomatosis, confluent and reticulated 10.2
23 bartter syndrome, type 3 10.2
24 hypokalemia 10.2
25 diabetes insipidus 10.2
26 cytokine deficiency 10.2
27 pericarditis 10.1
28 hypertension, essential 10.1
29 triiodothyronine receptor auxiliary protein 10.1
30 gitelman syndrome 10.1
31 sensorineural hearing loss 10.1
32 infertility 10.1
33 polyhydramnios 10.1
34 autoinflammatory syndrome 10.1
35 diabetes insipidus, nephrogenic, autosomal 10.0
36 fanconi renotubular syndrome 1 10.0
37 menkes disease 10.0
38 megalencephalic leukoencephalopathy with subcortical cysts 1 10.0
39 allergic rhinitis 10.0
40 fanconi renotubular syndrome 2 10.0
41 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
42 bone disease 10.0
43 corneal disease 10.0
44 keratoconus 10.0
45 fanconi syndrome 10.0
46 cryptococcosis 10.0
47 azoospermia 10.0
48 constipation 10.0
49 iga glomerulonephritis 10.0
50 myopathy 10.0

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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 2833 6167
2 Interleukin 1 Receptor Antagonist Protein Phase 3
3 Antirheumatic Agents Phase 3
4
Insulin lispro Approved Phase 2 133107-64-9
5
Glucagon Approved Phase 2 16941-32-5
6 Insulin, Short-Acting Phase 2
7 Hypoglycemic Agents Phase 2
8 insulin Phase 2
9 Glucagon-Like Peptide 1 Phase 2
10 Insulin, Globin Zinc Phase 2
11
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
12 Pharmaceutical Solutions
13 Anti-Infective Agents
14 Chloroquine diphosphate 50-63-5
15 Antiparasitic Agents
16 Amebicides
17 Antiprotozoal Agents
18 Antimalarials

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Placebo-Controlled Study of the Efficacy and Safety of Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
2 CONNECT for Better Falls Prevention in VA Community Living Centers Completed NCT00836433 Phase 3
3 An Open-label, Exploratory Study to Establish the Safety and Efficacy of 3 Months Treatment With Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
4 Glucagon Response to Prandial Insulin Administration in Persons With Type 1 Diabetes Not yet recruiting NCT04079881 Phase 2 Insulin
5 Implementing and Evaluating INTERACT in VA CLCs Completed NCT04195880
6 Training and Coaching to Promote High Performance in VA Nursing Home Care Completed NCT00875706
7 Investigating the Impact of Multi-sensory Environments on Behavior During Assisted Bathing for Veterans With Dementia Completed NCT03303638
8 Genotoxic Stress, Atherosclerosis, and Metabolic Syndrome- Aim 3 Completed NCT00455403 Chloroquine;Placebo Comparator
9 The Effect of Intra-dialytic Potassium and Magnesium Fluctuations on Cardiovascular Functioning in ESRD Patients Undergoing In Center Hemodialysis Recruiting NCT04287010
10 Improving Veteran Transitions From VA Community Living Centers to the Community Withdrawn NCT02211274

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

MalaCards organs/tissues related to Colchicine Resistance:

40
Small Intestine, Kidney, Ovary

Publications for Colchicine Resistance

Articles related to Colchicine Resistance:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. 61 56
7129432 1982
2
Molecular basis of preferential resistance to colchicine in multidrug-resistant human cells conferred by Gly-185----Val-185 substitution in P-glycoprotein. 6
1976255 1990
3
An altered pattern of cross-resistance in multidrug-resistant human cells results from spontaneous mutations in the mdr1 (P-glycoprotein) gene. 6
2897240 1988
4
Altered sensitivity to cholchicine and PHA in human cultured cells. 56
7188928 1980
5
Association of drug transporter gene ABCB1 (MDR1) 3435C to T polymorphism with colchicine response in familial Mediterranean fever. 61 54
17610314 2007
6
Inhibition of the MDR1 transporter by new phenothiazine derivatives. 61 54
16750172 2006
7
Improved energy coupling of human P-glycoprotein by the glycine 185 to valine mutation. 61 54
15049699 2004
8
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. 54 61
11284688 2001
9
Amplification and expression of the ABC transporters ARA and MRP in a series of multidrug-resistant leukaemia cell sublines. 61 54
9649117 1998
10
Bicistronic and two-gene retroviral vectors for using MDR1 as a selectable marker and a therapeutic gene. 61 54
8599208 1996
11
Drug-selected coexpression of human glucocerebrosidase and P-glycoprotein using a bicistronic vector. 61 54
7909160 1994
12
Multidrug resistance phenotype of human BRO melanoma cells transfected with a wild-type human mdr1 complementary DNA. 54 61
1968359 1990
13
A systematic literature review of efficacy, effectiveness and safety of biologic therapies for treatment of familial Mediterranean fever. 61
32533192 2020
14
Factors associated with damage in patients with familial Mediterranean fever. 61
32573410 2020
15
Frequency, characteristics, and clinical determinants of 'prodrome' in familial Mediterranean fever patients. 61
31478409 2020
16
Effectiveness of Canakinumab in Colchicine- and Anakinra-Resistant or -Intolerant Adult Familial Mediterranean Fever Patients: A Single-Center Real-Life Study. 61
30048391 2020
17
Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort. 61
31522233 2020
18
Successful management of colchicine resistant familial Mediterranean fever patients with a standardized canakinumab treatment protocol: a case series and literature review. 61
31273456 2020
19
Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade? 61
31693653 2019
20
Canakinumab in Children with Familial Mediterranean Fever: A Single-Center, Retrospective Analysis. 61
31463794 2019
21
Outcomes of Canakinumab Treatment in Recipients of Kidney Transplant With Familial Mediterranean Fever: A Case Series. 61
31400972 2019
22
Anti-interleukin-1 treatment among patients with familial Mediterranean fever resistant to colchicine treatment. Retrospective analysis. 61
31116269 2019
23
Treatment of familial mediterranean fever with canakinumab in patients who are unresponsive to colchicine. 61
31365342 2019
24
Glesatinib, a c-MET/SMO Dual Inhibitor, Antagonizes P-glycoprotein Mediated Multidrug Resistance in Cancer Cells. 61
31106148 2019
25
In silico study of colchicine resistance molecular mechanisms caused by tubulin structural polymorphism. 61
31442266 2019
26
Which definition should be used to determine colchicine resistance among patients with familial Mediterranean fever? 61
30418112 2018
27
Blood group 'A' may have a possible modifier effect on familial Mediterranean fever and blood group '0' may be associated with colchicine resistance. 61
29873519 2018
28
Can the Thiol/Disulfide Imbalance Be a Predictor of Colchicine Resistance in Familial Mediterranean Fever? 61
28875601 2017
29
Colchicine resistance and intolerance in familial mediterranean fever: Definition, causes, and alternative treatments. 61
28413100 2017
30
Modeling the Colchicum autumnale Tubulin and a Comparison of Its Interaction with Colchicine to Human Tubulin. 61
28767055 2017
31
Enhanced stability of microtubules contributes in the development of colchicine resistance in MCF-7 cells. 61
28242250 2017
32
A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever. 61
28302131 2017
33
Anakinra use during pregnancy: Report of a case with Familial Mediterranean Fever and infertility. 61
28293457 2017
34
Anti-interleukin-1 treatment in 26 patients with refractory familial mediterranean fever. 61
27328763 2017
35
Recurrent Pericarditis. 61
27725173 2017
36
Small Intestinal Bacterial Overgrowth Affects the Responsiveness to Colchicine in Familial Mediterranean Fever. 61
29379228 2017
37
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. 61
28386255 2017
38
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial. 61
27825009 2016
39
Recurrent Pericarditis: Modern Approach in 2016. 61
27108360 2016
40
Anti-IL-1 treatment in familial Mediterranean fever and related amyloidosis. 61
25213327 2016
41
Colchicine resistance and low vitamin D in familial Mediterranean fever. 61
26707648 2016
42
Treatment of colchicine-resistant Familial Mediterranean fever in children and adolescents. 61
26001859 2015
43
Association between colchicine resistance and vitamin D in familial Mediterranean fever. 61
26067744 2015
44
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. 61
25760087 2015
45
[Evaluation of frequency and the attacks features of patients with colchicine resistance in FMF]. 61
25627298 2014
46
Colchicine failure in familial Mediterranean fever and potential alternatives: embarking on the anakinra trial. 61
24979828 2014
47
Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 61
23742958 2013
48
IL-1β biological treatment of familial Mediterranean fever. 61
23322405 2013
49
Current trends in colchicine treatment in familial Mediterranean fever. 61
24064013 2013
50
Familial Mediterranean fever: a critical digest of the 2012-2013 literature. 61
24064023 2013

Variations for Colchicine Resistance

ClinVar genetic disease variations for Colchicine Resistance:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB1 NM_001348946.2(ABCB1):c.554G>T (p.Gly185Val)SNV Pathogenic 13698 rs1128501 7:87195534-87195534 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 ABCC1 ABCB1
2
Show member pathways
11.65 ABCB11 ABCB1
3
Show member pathways
11.62 ABCB11 ABCB1
4
Show member pathways
11.59 ABCB11 ABCB1
5
Show member pathways
11.54 ABCC1 ABCB1
6 11.46 ABCB11 ABCB1
7
Show member pathways
11.27 ABCC1 ABCB1
8
Show member pathways
11.19 ABCC1 ABCB1
9
Show member pathways
11.06 ABCC1 ABCB1
10 10.98 ABCB11 ABCB1
11 10.77 ABCC1 ABCB1
12
Show member pathways
10.67 ABCC1 ABCB1
13 10.58 ABCC1 ABCB1
14 10.49 ABCB11 ABCB1
15 10.33 ABCC1 ABCB1
16 10.13 ABCC1 ABCB1
17 9.62 ABCC1 ABCB1

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 ABCC1 ABCB11 ABCB1
2 phospholipid translocation GO:0045332 9.16 ABCC1 ABCB1
3 transepithelial transport GO:0070633 8.96 ABCC1 ABCB1
4 export across plasma membrane GO:0140115 8.62 ABCC1 ABCB1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.73 DNAH8 ABCC1 ABCB11 ABCB1
2 ATP binding GO:0005524 9.71 DNAH8 ABCC1 ABCB11 ABCB1
3 ATPase activity GO:0016887 9.5 ABCC1 ABCB11 ABCB1
4 transporter activity GO:0005215 9.37 ABCB11 ABCB1
5 xenobiotic transmembrane transporter activity GO:0042910 9.26 ABCC1 ABCB1
6 efflux transmembrane transporter activity GO:0015562 9.16 ABCC1 ABCB1
7 xenobiotic transmembrane transporting ATPase activity GO:0008559 8.96 ABCC1 ABCB1
8 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.8 ABCC1 ABCB11 ABCB1

Sources for Colchicine Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....