MCID: CLC008
MIFTS: 31

Colchicine Resistance malady

Summaries for Colchicine Resistance

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48OMIM, 34MalaCards
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MalaCards: Colchicine Resistance is related to familial mediterranean fever and amyloidosis. 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:48 120080

Aliases & Classifications for Colchicine Resistance

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48OMIM, 46Novoseek, 63UMLS
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Aliases & Descriptions:

colchicine resistance 48 46 63


Related Diseases for Colchicine Resistance

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Colchicine Resistance via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever10.4
2amyloidosis10.1
3epithelioid sarcoma10.0ABCB1, ABCC1
4leukemia, acute nonlymphocytic10.0ABCB1, ABCC1
5acute myeloid leukemia, adult10.0ABCC1, ABCB1
6monocytic leukemia10.0ABCC1, ABCB1
7acute lymphoblastic leukemia, childhood10.0ABCC1, ABCB1
8acute promyelocytic leukemia10.0ABCB1, ABCC1
9colon adenocarcinoma10.0ABCB1, ABCC1
10precursor t-cell acute lymphoblastic leukemia10.0ABCC1, ABCB1
11hematologic cancer10.0ABCC1, ABCB1
12wilms tumor10.0ABCC1, ABCB1
13non-small cell lung carcinoma10.0ABCC1, ABCB1
14malignant glioma10.0ABCC1, ABCB1
15cholestasis10.0ABCC1, ABCB11
16rhabdomyosarcoma10.0DNAH8, ABCC1, ABCB1
17acute erythroid leukemia10.0ABCC1, ABCB1
18lung cancer10.0ABCB1, DNAH8, ABCC1
19stomach cancer10.0ABCC1, ABCB1, DNAH8
20myelodysplastic syndromes10.0ABCB11, ABCB1
21hepatocellular carcinoma10.0ABCC1, DNAH8, ABCB1
22vascular disease10.0DNAH8, ABCC1
23rheumatoid arthritis10.0DNAH8, MEFV, ABCC1
24intrahepatic cholestasis10.0DNAH8, ABCC1, ABCB11
25liver cirrhosis10.0DNAH8, ABCB11, ABCC1
26lung small cell carcinoma10.0ABCC1, ABCB11, ABCB1
27sarcoma10.0ABCB11, ABCB1, ABCC1
28osteosarcoma10.0ABCC1, ABCB11, ABCB1
29ovarian cancer10.0ABCB1, ABCB11, ABCC1
30burkitt's lymphoma9.9ABCC1, ABCB11, ABCB1
31epilepsy syndrome9.9ABCB1, DNAH8, ABCC1, ABCB11
32cystic fibrosis9.9ABCB1, ABCB11, DNAH8, ABCC1
33breast cancer9.9ABCB1, DNAH8, ABCB11, ABCC1
34adenocarcinoma9.9ABCB1, ABCB11, ABCC1, DNAH8
35leukemia9.9ABCC1, ABCB1, DNAH8, ABCB11
36melanoma9.9MEFV, ABCC1, DNAH8, ABCB11

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



Diseases related to colchicine resistance

Symptoms for Colchicine Resistance

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48OMIM
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Clinical features from OMIM:

120080

Drugs & Therapeutics for Colchicine Resistance

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Colchicine Resistance

Drug clinical trials:

Search ClinicalTrials for Colchicine Resistance

Search NIH Clinical Center for Colchicine Resistance

Search CenterWatch 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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Sources:
38MGI
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MGI Mouse Phenotypes related to Colchicine Resistance:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9MEFV, ABCB1, ABCB11

Publications for Colchicine Resistance

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53PubMed
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Articles related to Colchicine Resistance:

(show all 18)
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
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
8
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. (11284688)
2001
9
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
10
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. (7742775)
1995
11
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. (3700481)
1986
12
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. (7129432)
1982
13
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. (7334053)
1981
14
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. (490433)
1979
15
Dominance of colchicine resistance in hybrid CHO cells. (566474)
1978
16
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. (964308)
1976
17
Colchicine resistance in mammalian cell lines. (165207)
1975
18
Nature of colchicine resistance in golden hamster. (13668535)
1959

Variations for Colchicine Resistance

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Colchicine Resistance:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 39NCBI BioSystems Database, 52PharmGKB, 31KEGG, 54QIAGEN, 56Reactome
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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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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 3BitterDB
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Compounds related to Colchicine Resistance according to GeneCards/GeneDecks:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
18-azido-adp469.8ABCB1, DNAH8
2bodipy-verapamil469.7ABCB11, ABCB1
3clofazimine46 1210.5ABCB11, ABCB1
4idarubicinol469.5ABCC1, ABCB1
5sb 30469.5ABCC1, ABCB1
6biricodar469.5ABCC1, ABCB1
7ortataxel469.5ABCC1, ABCB1
8mr20469.4ABCC1, ABCB1
9deoxycorticosterone acetate469.4ABCC1, ABCB1
10annamycin469.4ABCC1, ABCB1
11daunoxome469.4ABCC1, ABCB1
12azidopine469.3ABCB11, ABCB1, DNAH8
13flupenthixol46 52 1211.3DNAH8, ABCB1, ABCB11
14pirarubicin469.3ABCC1, ABCB1
15fumitremorgin c469.2ABCC1, DNAH8
16psc 833629.2ABCC1, ABCB1
17tetramethylrosamine469.1ABCC1, ABCB1, DNAH8
18(125i)iodoarylazidoprazosin469.1DNAH8, ABCB1, ABCC1
19elacridar hydrochloride629.1ABCB1, ABCC1
208-azido-atp469.1ABCC1, ABCB1, DNAH8
21probenecid30 46 62 52 1213.0DNAH8, ABCB1, ABCC1
22mitoxantrone46 52 1211.0ABCC1, ABCB1, DNAH8
23tariquidar469.0ABCB1, ABCB11, ABCC1
24gf 120918469.0ABCC1, ABCB11, ABCB1
25psc-833469.0ABCC1, ABCB11, ABCB1
26ly335979469.0ABCC1, ABCB11, ABCB1
27idarubicin52 46 1211.0ABCB1, ABCB11, ABCC1
28Taurocholic acid25 1210.0ABCC1, ABCB11, ABCB1
29cyclosporine52 1210.0ABCB1, ABCB11, ABCC1
30nelfinavir46 52 1211.0ABCB1, ABCB11, ABCC1
31rifampin52 1210.0ABCC1, ABCB11, ABCB1
32saquinavir46 1210.0ABCB1, ABCB11, ABCC1
33taurocholate468.9ABCB1, ABCB11, ABCC1
34ritonavir46 52 1210.9ABCB1, ABCB11, ABCC1
35cholic acid46 30 25 1211.9ABCB1, ABCB11, ABCC1
36ko 143628.9ABCC1, ABCB1
37erythromycin46 3 52 1211.9ABCC1, ABCB11, ABCB1
38phenobarbital46 30 52 1211.6ABCB1, ABCB11, ABCC1
39rhodamine 12346 529.5DNAH8, ABCB1, ABCB11, ABCC1
40quinidine46 30 52 1211.5DNAH8, ABCB1, ABCB11, ABCC1
41digoxin46 62 52 25 1212.5ABCC1, ABCB11, ABCB1, DNAH8
42rifampicin46 30 6210.5DNAH8, ABCB1, ABCB11, ABCC1
43daunorubicin46 52 1210.5DNAH8, ABCB1, ABCB11, ABCC1
44vinblastine46 52 1210.5ABCC1, ABCB11, ABCB1, DNAH8
45colchicine46 62 3 30 1212.5ABCC1, ABCB11, ABCB1, MEFV
46verapamil46 30 52 25 1212.5DNAH8, ABCB1, ABCB11, ABCC1
47epinephrine46 25 1210.4ABCC1, ABCB11, ABCB1, DNAH8
48etoposide46 52 62 1211.4ABCC1, ABCB11, ABCB1, DNAH8
49doxorubicin46 52 1210.4ABCC1, ABCB11, ABCB1, DNAH8
50cyclosporin a46 30 6210.3ABCC1, ABCB11, ABCB1, DNAH8

GO Terms for genes affiliated with Colchicine Resistance

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17Gene Ontology
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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:0426268.6ABCC1, ABCB11, ABCB1
3transporter activityGO:0052158.5ABCB1, ABCC1, ABCB11
4ATP bindingGO:0055247.8ABCB1, ABCB11, DNAH8, ABCC1

Products for genes affiliated with Colchicine Resistance

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  • Antibodies
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Sources for Colchicine Resistance

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet