MCID: CLC008
MIFTS: 32

Colchicine Resistance malady

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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, 62UMLS
See all sources

Colchicine Resistance, Aliases & Descriptions:

Name: Colchicine Resistance 46 44 62


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

6
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
3idarubicinol449.5ABCB1, ABCC1
4sb 30449.5ABCB1, ABCC1
5clofazimine44 1110.5ABCB1, ABCB11
6biricodar449.5ABCB1, ABCC1
7ortataxel449.5ABCB1, ABCC1
8daunoxome449.4ABCC1, ABCB1
9mr20449.4ABCC1, ABCB1
10deoxycorticosterone acetate449.4ABCC1, ABCB1
11annamycin449.4ABCB1, ABCC1
12azidopine449.3DNAH8, ABCB1, ABCB11
13flupenthixol44 50 1111.3ABCB11, ABCB1, DNAH8
14fumitremorgin c449.3DNAH8, ABCC1
15pirarubicin449.3ABCC1, ABCB1
16psc 833619.2ABCB1, ABCC1
17tetramethylrosamine449.1ABCB1, DNAH8, ABCC1
18(125i)iodoarylazidoprazosin449.1ABCB1, ABCC1, DNAH8
19ko 143619.1ABCC1, ABCB1
208-azido-atp449.1ABCB1, DNAH8, ABCC1
21probenecid28 44 61 50 1113.0ABCB1, DNAH8, ABCC1
22mitoxantrone44 50 1111.0ABCC1, ABCB1, DNAH8
23tariquidar449.0ABCC1, ABCB11, ABCB1
24gf 120918449.0ABCC1, ABCB1, ABCB11
25ly335979449.0ABCB1, ABCB11, ABCC1
26psc-833449.0ABCB11, ABCB1, ABCC1
27idarubicin50 44 1111.0ABCB1, ABCC1, ABCB11
28Taurocholic acid24 1110.0ABCB1, ABCC1, ABCB11
29nelfinavir44 50 1111.0ABCB1, ABCC1, ABCB11
30cyclosporine50 1110.0ABCC1, ABCB1, ABCB11
31rifampin50 1110.0ABCB1, ABCB11, ABCC1
32saquinavir44 1110.0ABCB1, ABCB11, ABCC1
33taurocholate448.9ABCB1, ABCC1, ABCB11
34ritonavir44 50 1110.9ABCB11, ABCC1, ABCB1
35cholic acid44 28 24 1111.9ABCC1, ABCB1, ABCB11
36elacridar hydrochloride618.9ABCB1, ABCC1
37erythromycin44 2 50 1111.9ABCC1, ABCB1, ABCB11
38phenobarbital44 28 50 1111.6ABCB1, ABCC1, ABCB11
39rhodamine 12344 509.5ABCB1, ABCB11, ABCC1, DNAH8
40quinidine44 28 50 1111.5ABCC1, ABCB11, ABCB1, DNAH8
41digoxin44 61 50 24 1112.5ABCB1, DNAH8, ABCC1, ABCB11
42rifampicin44 28 6110.5ABCC1, DNAH8, ABCB1, ABCB11
43daunorubicin44 50 1110.5ABCC1, ABCB11, ABCB1, DNAH8
44vinblastine44 50 1110.5DNAH8, ABCB1, ABCB11, ABCC1
45colchicine44 61 2 28 1112.5ABCB11, ABCB1, MEFV, ABCC1
46verapamil44 28 50 24 1112.5ABCC1, ABCB11, DNAH8, ABCB1
47epinephrine44 24 1110.4DNAH8, ABCB1, ABCB11, ABCC1
48etoposide44 50 61 1111.4DNAH8, ABCC1, ABCB1, ABCB11
49doxorubicin44 50 1110.4ABCB11, DNAH8, ABCC1, ABCB1
50cyclosporin a44 28 6110.3DNAH8, ABCB1, ABCC1, ABCB11

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet