CLCS
MCID: CLC008
MIFTS: 33

Colchicine Resistance (CLCS)

Categories: Genetic diseases

Aliases & Classifications for Colchicine Resistance

MalaCards integrated aliases for Colchicine Resistance:

Name: Colchicine Resistance 57 29 13 54 6 39 71
Colchicine Sensitivity; Clcs 57
Colchicine Sensitivity 57
Clcs 57

Classifications:



External Ids:

OMIM® 57 120080
UMLS 71 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 Pathway: Anatomy and Hepatic ABC Transporters. The drugs Colchicine and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney and ovary.

More information 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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Colchicine Resistance

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
2 Antirheumatic Agents Phase 3
3 Interleukin 1 Receptor Antagonist Protein Phase 3
4 Pharmaceutical Solutions Phase 3
5 Immunoglobulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Antibodies Phase 3
8
Pancrelipase Approved, Investigational 53608-75-6
9
tannic acid Approved 1401-55-4
10
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
11 pancreatin
12 Insulin, Globin Zinc
13 insulin

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double Blind Pilot Study Evaluating CLCNKA (Ka Renal Chloride Channel[ClC-Ka]) Polymorphism Effects on Hypertrophy Regression in Caucasian Hypertensive Patients Treated With Eplerenone Withdrawn NCT01275352 Phase 4 Eplerenone;placebo
2 Randomized Controlled Trial Of Transumbilical Laparoendoscopic Single Site Cholecystectomy Versus Conventional Laparoscopic Cholecystectomy Unknown status NCT01383031 Phase 2, Phase 3
3 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
4 An Extension Study of CACZ885N2301 (NCT02059291), Multi-center, Open Label Study of Canakinumab in Japanese Patients With Periodic Fever Syndromes (Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), Hyper Immunoglobulin D Syndrome ((Also Known as Mevalonate Kinase Deficiency) (HIDS/MKD), or Colchicine Resistant/Intolerant Familial Mediterranean Fever (crFMF)) Completed NCT02911857 Phase 3
5 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
6 A 6 Month Phase 2, Multi-Center, Open-label, Single Arm Study to Evaluate the Safety and Efficacy of Treatment With Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever Completed NCT01148797 Phase 2 Canakinumab
7 Group Family Nurture Intervention: Short and Long Term Effects on Preschool Aged Children and Their Mothers at Children's Learning Centers Completed NCT03908268
8 Implementing and Evaluating INTERACT in VA CLCs Completed NCT04195880
9 Quality-of-life, Body Image and Cosmesis After Single Incision Laparoscopic Cholecystectomy (SILC) Versus Conventional Laparoscopic Cholecystectomy (CLC) Completed NCT02417857
10 Reducing Risks and Improving Glucose Control During Extended Exercise in Youth With T1DM: The AP Ski Camp Completed NCT02604524
11 Project Nightlight: Efficacy and System Acceptance of Dinner/Night vs. 24hr Closed Loop Control Completed NCT02679287
12 Training and Coaching to Promote High Performance in VA Nursing Home Care Completed NCT00875706
13 Neurological and Neuropsychological Sequelae of COVID-19 Infection Recruiting NCT04745611
14 Children's Learning Centers (CLC) Welch Emotional Connection Screen (WECS) Relational Toolkit in a Virtual Group Model Recruiting NCT04626037
15 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
Kidney, Ovary

Publications for Colchicine Resistance

Articles related to Colchicine Resistance:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. 61 57
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. 57
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. 61 54
11284688 2001
9
Amplification and expression of the ABC transporters ARA and MRP in a series of multidrug-resistant leukaemia cell sublines. 54 61
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. 61 54
1968359 1990
13
"Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france". 61
33586832 2021
14
Is there a relationship between serum omentin level and acute phase response in patients with familial Mediterranean fever? 61
32623649 2021
15
Work productivity impairment in patients with familial Mediterranean fever and effects of interleukin-1 antagonists. 61
33527168 2021
16
Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade? 61
31693653 2021
17
Predictors of persistent inflammation in familial Mediterranean fever and association with damage. 61
32778893 2021
18
Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey. 61
33454820 2021
19
APPENDECTOMY HISTORY IS ASSOCIATED WITH SEVERE DISEASE AND COLCHICINE RESISTANCE IN ADULT FAMILIAL MEDITERRANEAN FEVER PATIENTS. 61
33460325 2021
20
Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach. 61
33331943 2020
21
Analysis of polymorphisms in the colchicine binding site of tubulin in colchicine-resistant familial Mediterranean fever patients. 61
33161498 2020
22
[Results of the systematic literature search as basis for the "Evidence-based treatment recommendations for familial Mediterranean fever patients with insufficient response or intolerability to colchicine" of the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology]. 61
32997267 2020
23
Anakinra for constrictive pericarditis associated with incessant or recurrent pericarditis. 61
32868281 2020
24
A systematic literature review of efficacy, effectiveness and safety of biologic therapies for treatment of familial Mediterranean fever. 61
32533192 2020
25
Factors associated with damage in patients with familial Mediterranean fever. 61
32573410 2020
26
Frequency, characteristics, and clinical determinants of 'prodrome' in familial Mediterranean fever patients. 61
31478409 2020
27
The Use of Interleukine-1 Inhibitors in Familial Mediterranean Fever Patients: A Narrative Review. 61
32670263 2020
28
Successful management of colchicine resistant familial Mediterranean fever patients with a standardized canakinumab treatment protocol: a case series and literature review. 61
31273456 2020
29
Effectiveness of Canakinumab in Colchicine- and Anakinra-Resistant or -Intolerant Adult Familial Mediterranean Fever Patients: A Single-Center Real-Life Study. 61
30048391 2020
30
Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort. 61
31522233 2020
31
Canakinumab in Children with Familial Mediterranean Fever: A Single-Center, Retrospective Analysis. 61
31463794 2019
32
Outcomes of Canakinumab Treatment in Recipients of Kidney Transplant With Familial Mediterranean Fever: A Case Series. 61
31400972 2019
33
Anti-interleukin-1 treatment among patients with familial Mediterranean fever resistant to colchicine treatment. Retrospective analysis. 61
31116269 2019
34
Treatment of familial mediterranean fever with canakinumab in patients who are unresponsive to colchicine. 61
31365342 2019
35
Glesatinib, a c-MET/SMO Dual Inhibitor, Antagonizes P-glycoprotein Mediated Multidrug Resistance in Cancer Cells. 61
31106148 2019
36
In silico study of colchicine resistance molecular mechanisms caused by tubulin structural polymorphism. 61
31442266 2019
37
Which definition should be used to determine colchicine resistance among patients with familial Mediterranean fever? 61
30418112 2018
38
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
39
Can the Thiol/Disulfide Imbalance Be a Predictor of Colchicine Resistance in Familial Mediterranean Fever? 61
28875601 2017
40
Modeling the Colchicum autumnale Tubulin and a Comparison of Its Interaction with Colchicine to Human Tubulin. 61
28767055 2017
41
Colchicine resistance and intolerance in familial mediterranean fever: Definition, causes, and alternative treatments. 61
28413100 2017
42
Enhanced stability of microtubules contributes in the development of colchicine resistance in MCF-7 cells. 61
28242250 2017
43
A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever. 61
28302131 2017
44
Anti-interleukin-1 treatment in 26 patients with refractory familial mediterranean fever. 61
27328763 2017
45
Anakinra use during pregnancy: Report of a case with Familial Mediterranean Fever and infertility. 61
28293457 2017
46
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. 61
28386255 2017
47
Small Intestinal Bacterial Overgrowth Affects the Responsiveness to Colchicine in Familial Mediterranean Fever. 61
29379228 2017
48
Recurrent Pericarditis. 61
27725173 2017
49
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial. 61
27825009 2016
50
Recurrent Pericarditis: Modern Approach in 2016. 61
27108360 2016

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 11.48 ABCB11 ABCB1
6
Show member pathways
11.43 ABCC1 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

Cellular components related to Colchicine Resistance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 ABCC1 ABCB11 ABCB1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.58 ABCC1 ABCB11 ABCB1
2 xenobiotic transport GO:0042908 9.37 ABCC1 ABCB11
3 phospholipid translocation GO:0045332 9.32 ABCC1 ABCB1
4 export across plasma membrane GO:0140115 9.26 ABCC1 ABCB1
5 transepithelial transport GO:0070633 9.16 ABCC1 ABCB1
6 carboxylic acid transmembrane transport GO:1905039 8.96 ABCC1 ABCB1
7 lactone transport GO:0042969 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 9.76 DNAH8 ABCC1 ABCB11 ABCB1
2 ATP binding GO:0005524 9.73 DNAH8 ABCC1 ABCB11 ABCB1
3 ATPase activity GO:0016887 9.58 ABCC1 ABCB11 ABCB1
4 xenobiotic transmembrane transporter activity GO:0042910 9.37 ABCC1 ABCB1
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.33 ABCC1 ABCB11 ABCB1
6 efflux transmembrane transporter activity GO:0015562 9.32 ABCC1 ABCB1
7 carboxylic acid transmembrane transporter activity GO:0046943 9.26 ABCC1 ABCB1
8 lactone transmembrane transporter activity GO:0042971 8.96 ABCC1 ABCB1
9 xenobiotic transmembrane transporting ATPase activity GO:0008559 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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