MCID: CLC008
MIFTS: 31

Colchicine Resistance malady

Summaries for Colchicine Resistance

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MalaCards based summary: Colchicine Resistance is related to familial mediterranean fever and epithelioid sarcoma. An important gene associated with Colchicine Resistance is ABCB1 (ATP-binding cassette, sub-family B (MDR/TAP), member 1), and among its related pathways are Drug Induction of Bile Acid Pathway and Statin Pathway - Generalized, Pharmacokinetics. The compounds 8-azido-adp and bodipy-verapamil have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Description from OMIM:46 120080

Aliases & Classifications for Colchicine Resistance

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Sources:
46OMIM, 44Novoseek, 61UMLS
See all sources

Colchicine Resistance, Aliases & Descriptions:

Name: Colchicine Resistance 46 44 61


Related Diseases for Colchicine Resistance

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever10.4
2epithelioid sarcoma10.2ABCB1, ABCC1
3leukemia, acute nonlymphocytic10.2ABCB1, ABCC1
4acute myeloid leukemia, adult10.2ABCB1, ABCC1
5monocytic leukemia10.1ABCB1, ABCC1
6acute lymphoblastic leukemia, childhood10.1ABCC1, ABCB1
7acute promyelocytic leukemia10.1ABCB1, ABCC1
8colon adenocarcinoma10.1ABCB1, ABCC1
9precursor t-cell acute lymphoblastic leukemia10.1ABCB1, ABCC1
10hematologic cancer10.1ABCB1, ABCC1
11wilms tumor10.0ABCB1, ABCC1
12non-small cell lung carcinoma10.0ABCB1, ABCC1
13malignant glioma10.0ABCB1, ABCC1
14cholestasis10.0ABCB11, ABCC1
15rhabdomyosarcoma10.0DNAH8, ABCB1, ABCC1
16acute erythroid leukemia10.0ABCB1, ABCC1
17lung cancer10.0ABCC1, ABCB1, DNAH8
18stomach cancer10.0DNAH8, ABCB1, ABCC1
19myelodysplastic syndromes9.9ABCB1, ABCB11
20liver cancer9.9ABCC1, ABCB1, DNAH8
21vascular disease9.9DNAH8, ABCC1
22rheumatoid arthritis9.9ABCC1, MEFV, DNAH8
23intrahepatic cholestasis9.9DNAH8, ABCB11, ABCC1
24liver cirrhosis9.9ABCC1, ABCB11, DNAH8
25lung small cell carcinoma9.8ABCB1, ABCB11, ABCC1
26sarcoma9.8ABCB1, ABCB11, ABCC1
27osteosarcoma9.8ABCC1, ABCB11, ABCB1
28ovarian cancer9.8ABCB1, ABCB11, ABCC1
29burkitt's lymphoma9.8ABCB1, ABCB11, ABCC1
30epilepsy syndrome9.6ABCC1, ABCB11, ABCB1, DNAH8
31cystic fibrosis9.6DNAH8, ABCB1, ABCB11, ABCC1
32breast cancer9.6ABCC1, ABCB11, ABCB1, DNAH8
33adenocarcinoma9.6DNAH8, ABCB1, ABCB11, ABCC1
34leukemia9.6ABCC1, ABCB11, ABCB1, DNAH8
35melanoma9.6DNAH8, MEFV, ABCB11, ABCC1

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



Diseases related to colchicine resistance

Symptoms for Colchicine Resistance

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Clinical features from OMIM:

120080

Drugs & Therapeutics for Colchicine Resistance

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Drug clinical trials:

Search ClinicalTrials for Colchicine Resistance

Search NIH Clinical Center for Colchicine Resistance

Genetic Tests for Colchicine Resistance

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Anatomical Context for Colchicine Resistance

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Animal Models for Colchicine Resistance or affiliated genes

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MGI Mouse Phenotypes related to Colchicine Resistance:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9MEFV, ABCB1, ABCB11

Publications for Colchicine Resistance

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Articles related to Colchicine Resistance:

(show all 17)
idTitleAuthorsYear
1
Comparative analyses of the I^-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. (24083244)
2013
2
Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever. (20386914)
2012
3
Normal QT dispersion in colchicine-resistant familial Mediterranean fever (FMF). (22526475)
2012
4
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. (23070486)
2012
5
QT interval variability in familial Mediterranean fever: a study in colchicine-responsive and colchicine-resistant patients. (22271228)
2012
6
Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. (19075317)
2008
7
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. (11284688)
2001
8
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
9
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. (7742775)
1995
10
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. (3700481)
1986
11
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. (7129432)
1982
12
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. (7334053)
1981
13
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. (490433)
1979
14
Dominance of colchicine resistance in hybrid CHO cells. (566474)
1978
15
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. (964308)
1976
16
Colchicine resistance in mammalian cell lines. (165207)
1975
17
Nature of colchicine resistance in golden hamster. (13668535)
1959

Variations for Colchicine Resistance

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Clinvar genetic disease variations for Colchicine Resistance:

7
id Gene Name Type Significance SNP ID Assembly Location
1ABCB1NM_000927.4(ABCB1): c.554G> T (p.Gly185Val)single nucleotide variantPathogenicrs1128501GRCh37Chr 7, 87195534: 87195534

Expression for genes affiliated with Colchicine Resistance

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Expression patterns in normal tissues for genes affiliated with Colchicine Resistance

Search GEO for disease gene expression data for Colchicine Resistance.

Pathways for genes affiliated with Colchicine Resistance

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Pathways related to Colchicine Resistance according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ABCB1, ABCB11
2
Show member pathways
9.4ABCB11, ABCB1
39.4ABCB11, ABCB1
49.4ABCB1, ABCB11
5
Show member pathways
9.4ABCB1, ABCB11
6
Show member pathways
9.2ABCB1, ABCC1
7
Show member pathways
9.2ABCB1, ABCC1
89.2ABCC1, ABCB1
99.2ABCB1, ABCC1
10
Show member pathways
9.2ABCB1, ABCC1
119.2ABCC1, ABCB1
129.2ABCB1, ABCC1
13
Show member pathways
8.6ABCB1, ABCB11, ABCC1

Compounds for genes affiliated with Colchicine Resistance

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Compounds related to Colchicine Resistance according to GeneCards/GeneDecks:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
18-azido-adp449.8DNAH8, ABCB1
2bodipy-verapamil449.7ABCB1, ABCB11
3biricodar449.5ABCB1, ABCC1
4idarubicinol449.5ABCC1, ABCB1
5sb 30449.5ABCB1, ABCC1
6clofazimine44 1210.5ABCB11, ABCB1
7daunoxome449.5ABCC1, ABCB1
8mr20449.4ABCB1, ABCC1
9ortataxel449.4ABCB1, ABCC1
10deoxycorticosterone acetate449.4ABCC1, ABCB1
11annamycin449.4ABCB1, ABCC1
12azidopine449.3ABCB11, ABCB1, DNAH8
13pirarubicin449.3ABCC1, ABCB1
14flupenthixol44 50 1211.3DNAH8, ABCB11, ABCB1
15fumitremorgin c449.3ABCC1, DNAH8
16bioflavonoids449.1ABCC1, DNAH8
17tetramethylrosamine449.1ABCC1, ABCB1, DNAH8
18(125i)iodoarylazidoprazosin449.1DNAH8, ABCC1, ABCB1
19psc 833609.1ABCB1, ABCC1
208-azido-atp449.1ABCB1, ABCC1, DNAH8
21probenecid29 44 60 50 1213.0ABCC1, DNAH8, ABCB1
22mitoxantrone44 50 1211.0ABCC1, DNAH8, ABCB1
23tariquidar449.0ABCC1, ABCB11, ABCB1
24gf 120918449.0ABCB11, ABCC1, ABCB1
25ly335979449.0ABCB1, ABCC1, ABCB11
26psc-833449.0ABCC1, ABCB1, ABCB11
27idarubicin50 44 1211.0ABCB1, ABCC1, ABCB11
28Taurocholic acid25 1210.0ABCB11, ABCB1, ABCC1
29nelfinavir44 50 1211.0ABCC1, ABCB11, ABCB1
30cyclosporine50 1210.0ABCB1, ABCB11, ABCC1
31rifampin50 1210.0ABCC1, ABCB11, ABCB1
32saquinavir44 1210.0ABCC1, ABCB11, ABCB1
33taurocholate448.9ABCB1, ABCC1, ABCB11
34ritonavir44 50 1210.9ABCC1, ABCB11, ABCB1
35cholic acid44 29 25 1211.9ABCC1, ABCB1, ABCB11
36erythromycin44 3 50 1211.9ABCB11, ABCC1, ABCB1
37phenobarbital44 29 50 1211.6ABCB11, ABCC1, ABCB1
38rhodamine 12344 509.5ABCB1, ABCC1, DNAH8, ABCB11
39quinidine44 29 50 1211.5ABCB11, ABCC1, ABCB1, DNAH8
40digoxin44 60 50 25 1212.5ABCB1, ABCC1, ABCB11, DNAH8
41rifampicin44 29 6010.5DNAH8, ABCB11, ABCC1, ABCB1
42daunorubicin44 50 1210.5ABCC1, DNAH8, ABCB11, ABCB1
43vinblastine44 50 1210.5DNAH8, ABCB1, ABCB11, ABCC1
44colchicine44 60 3 29 1212.5ABCC1, ABCB1, MEFV, ABCB11
45verapamil44 29 50 25 1212.5DNAH8, ABCB1, ABCC1, ABCB11
46epinephrine44 25 1210.4ABCC1, ABCB1, ABCB11, DNAH8
47etoposide44 50 60 1211.4ABCC1, ABCB11, ABCB1, DNAH8
48doxorubicin44 50 1210.4DNAH8, ABCB11, ABCB1, ABCC1
49cyclosporin a44 29 6010.3ABCB1, ABCB11, ABCC1, DNAH8
50mitomycin c448.3ABCB11, ABCC1, ABCB1

GO Terms for genes affiliated with Colchicine Resistance

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Cellular components related to Colchicine Resistance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:0465819.1ABCB1, ABCB11
2membraneGO:0160208.6ABCB1, ABCB11, ABCC1

Biological processes related to Colchicine Resistance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550858.6ABCB1, ABCB11, ABCC1
2transportGO:0068108.3ABCB1, ABCB11, ABCC1

Molecular functions related to Colchicine Resistance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.1DNAH8, ABCC1
2ATPase activity, coupled to transmembrane movement of substancesGO:0426268.6ABCB1, ABCB11, ABCC1
3transporter activityGO:0052158.5ABCB1, ABCB11, ABCC1
4ATP bindingGO:0055247.8ABCC1, ABCB11, ABCB1, DNAH8

Products for genes affiliated with Colchicine Resistance

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Sources for Colchicine Resistance

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet