MCID: CLC008
MIFTS: 31

Colchicine Resistance malady

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Summaries for Colchicine Resistance

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47OMIM, 33MalaCards
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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:47 120080

Aliases & Classifications for Colchicine Resistance

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47OMIM, 45Novoseek, 62UMLS
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Aliases & Descriptions:

colchicine resistance 47 45 62


Related Diseases for Colchicine Resistance

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

120080

Drugs & Therapeutics for Colchicine Resistance

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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37MGI
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MGI Mouse Phenotypes related to Colchicine Resistance:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9MEFV, ABCB1, ABCB11

Publications for Colchicine Resistance

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52PubMed
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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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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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 51PharmGKB, 30KEGG, 53QIAGEN, 55Reactome
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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:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 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-adp459.8ABCB1, DNAH8
2bodipy-verapamil459.7ABCB11, ABCB1
3clofazimine45 1110.5ABCB11, ABCB1
4idarubicinol459.5ABCC1, ABCB1
5sb 30459.5ABCC1, ABCB1
6biricodar459.5ABCC1, ABCB1
7ortataxel459.5ABCC1, ABCB1
8mr20459.4ABCC1, ABCB1
9deoxycorticosterone acetate459.4ABCC1, ABCB1
10annamycin459.4ABCC1, ABCB1
11daunoxome459.4ABCC1, ABCB1
12azidopine459.3ABCB11, ABCB1, DNAH8
13flupenthixol45 51 1111.3DNAH8, ABCB1, ABCB11
14pirarubicin459.3ABCC1, ABCB1
15fumitremorgin c459.2ABCC1, DNAH8
16psc 833619.2ABCC1, ABCB1
17tetramethylrosamine459.1ABCC1, ABCB1, DNAH8
18(125i)iodoarylazidoprazosin459.1DNAH8, ABCB1, ABCC1
19elacridar hydrochloride619.1ABCB1, ABCC1
208-azido-atp459.1ABCC1, ABCB1, DNAH8
21probenecid29 45 61 51 1113.0DNAH8, ABCB1, ABCC1
22mitoxantrone45 51 1111.0ABCC1, ABCB1, DNAH8
23tariquidar459.0ABCB1, ABCB11, ABCC1
24gf 120918459.0ABCC1, ABCB11, ABCB1
25psc-833459.0ABCC1, ABCB11, ABCB1
26ly335979459.0ABCC1, ABCB11, ABCB1
27idarubicin51 45 1111.0ABCB1, ABCB11, ABCC1
28Taurocholic acid24 1110.0ABCC1, ABCB11, ABCB1
29cyclosporine51 1110.0ABCB1, ABCB11, ABCC1
30nelfinavir45 51 1111.0ABCB1, ABCB11, ABCC1
31rifampin51 1110.0ABCC1, ABCB11, ABCB1
32saquinavir45 1110.0ABCB1, ABCB11, ABCC1
33taurocholate458.9ABCB1, ABCB11, ABCC1
34ritonavir45 51 1110.9ABCB1, ABCB11, ABCC1
35cholic acid45 29 24 1111.9ABCB1, ABCB11, ABCC1
36ko 143618.9ABCC1, ABCB1
37erythromycin45 3 51 1111.9ABCC1, ABCB11, ABCB1
38phenobarbital45 29 51 1111.6ABCB1, ABCB11, ABCC1
39rhodamine 12345 519.5DNAH8, ABCB1, ABCB11, ABCC1
40quinidine45 29 51 1111.5DNAH8, ABCB1, ABCB11, ABCC1
41digoxin45 61 51 24 1112.5ABCC1, ABCB11, ABCB1, DNAH8
42rifampicin45 29 6110.5DNAH8, ABCB1, ABCB11, ABCC1
43daunorubicin45 51 1110.5DNAH8, ABCB1, ABCB11, ABCC1
44vinblastine45 51 1110.5ABCC1, ABCB11, ABCB1, DNAH8
45colchicine45 61 3 29 1112.5ABCC1, ABCB11, ABCB1, MEFV
46verapamil45 29 51 24 1112.5DNAH8, ABCB1, ABCB11, ABCC1
47epinephrine45 24 1110.4ABCC1, ABCB11, ABCB1, DNAH8
48etoposide45 51 61 1111.4ABCC1, ABCB11, ABCB1, DNAH8
49doxorubicin45 51 1110.4ABCC1, ABCB11, ABCB1, DNAH8
50cyclosporin a45 29 6110.3ABCC1, ABCB11, ABCB1, DNAH8

GO Terms for genes affiliated with Colchicine Resistance

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet