MCID: CLC008
MIFTS: 29

Colchicine Resistance malady

Categories: Genetic diseases

Aliases & Classifications for Colchicine Resistance

Aliases & Descriptions for Colchicine Resistance:

Name: Colchicine Resistance 54 29 13 52 69

Classifications:



External Ids:

OMIM 54 120080

Summaries for Colchicine Resistance

MalaCards based summary : Colchicine Resistance is related to nodular basal cell carcinoma and testicular fibroma. 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 Interleukin 1 Receptor Antagonist Protein 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:

id Related Disease Score Top Affiliating Genes
1 nodular basal cell carcinoma 10.0 ABCB1 ABCC1
2 testicular fibroma 10.0 ABCB1 ABCC1
3 bleeding disorder, platelet-type, 18 10.0 ABCB1 ABCC1
4 van regemorter pierquin vamos syndrome 9.9 ABCB1 ABCC1
5 cryoglobulinemia 9.9 ABCB1 ABCC1
6 amyloidosis 9.7
7 pericarditis 9.6
8 deafness, autosomal recessive 39 9.3 ABCB1 ABCB11 ABCC1 DNAH8 MEFV

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3
2 Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2
3 Evaluate the Safety and Efficacy of Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever (FMF) Completed NCT01148797 Phase 2
4 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2
5 Effects of Colchicine in Non-Diabetic Adults With Metabolic Syndrome Recruiting NCT02153983 Phase 1, Phase 2
6 Oral Colchicine in Men With Castrate Resistant Prostate Cancer Withdrawn NCT01481233 Phase 2
7 Tocilizumab for the Treatment of Behcet's Syndrome Terminated NCT01693653

Search NIH Clinical Center for Colchicine Resistance

Genetic Tests for Colchicine Resistance

Genetic tests related to Colchicine Resistance:

id Genetic test Affiliating Genes
1 Colchicine Resistance 29

Anatomical Context for Colchicine Resistance

Publications for Colchicine Resistance

Articles related to Colchicine Resistance:

(show all 23)
id Title Authors Year
1
Colchicine resistance and low vitamin D in familial Mediterranean fever. ( 26707648 )
2016
2
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial. ( 27825009 )
2016
3
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. ( 25760087 )
2015
4
Association between colchicine resistance and vitamin D in familial Mediterranean fever. ( 26067744 )
2015
5
Colchicine-resistant familial Mediterranean fever in a renal transplantation patient: successful treatment with anakinra. ( 25852877 )
2014
6
Comparative analyses of the I^-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. ( 24083244 )
2013
7
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. ( 23070486 )
2012
8
QT interval variability in familial Mediterranean fever: a study in colchicine-responsive and colchicine-resistant patients. ( 22271228 )
2012
9
Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever. ( 20386914 )
2012
10
Normal QT dispersion in colchicine-resistant familial Mediterranean fever (FMF). ( 22526475 )
2012
11
Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. ( 19075317 )
2008
12
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
13
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. ( 11284688 )
2001
14
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
15
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. ( 7742775 )
1995
16
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. ( 3700481 )
1986
17
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. ( 7129432 )
1982
18
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. ( 7334053 )
1981
19
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. ( 490433 )
1979
20
Dominance of colchicine resistance in hybrid CHO cells. ( 566474 )
1978
21
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. ( 964308 )
1976
22
Colchicine resistance in mammalian cell lines. ( 165207 )
1975
23
Nature of colchicine resistance in golden hamster. ( 13668535 )
1959

Variations for Colchicine Resistance

ClinVar genetic disease variations for Colchicine Resistance:

6
id 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

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 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 ABCB1 ABCC1
2
Show member pathways
11.62 ABCB1 ABCB11
3
Show member pathways
11.44 ABCB1 ABCB11
4 11.35 ABCB1 ABCB11
5
Show member pathways
11.22 ABCB1 ABCC1
6
Show member pathways
11.06 ABCB1 ABCC1
7 10.98 ABCB1 ABCB11
8 10.77 ABCB1 ABCC1
9
Show member pathways
10.67 ABCB1 ABCC1
10 10.58 ABCB1 ABCC1
11 10.49 ABCB1 ABCB11
12 10.33 ABCB1 ABCC1
13 10.07 ABCB1 ABCC1
14 9.62 ABCB1 ABCC1

GO Terms for Colchicine Resistance

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

id 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 ATP hydrolysis coupled anion transmembrane transport GO:0099133 8.96 ABCB11 ABCC1
4 xenobiotic transport GO:0042908 8.62 ABCB1 ABCC1

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

id 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-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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....