MCID: CLC008
MIFTS: 31

Colchicine Resistance malady

Genetic diseases (common) category

Aliases & Classifications for Colchicine Resistance

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 22GTR, 60UMLS
See all sources

Colchicine Resistance, Aliases & Descriptions:

Name: Colchicine Resistance 45 10 43 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 120080

Summaries for Colchicine Resistance

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MalaCards based summary: Colchicine Resistance is related to amyloidosis 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:45 120080

Related Diseases for Colchicine Resistance

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis10.2
2epithelioid sarcoma10.2ABCB1, ABCC1
3acute myeloid leukemia, adult10.2ABCB1, ABCC1
4monocytic leukemia10.1ABCB1, ABCC1
5acute lymphoblastic leukemia, childhood10.1ABCC1, ABCB1
6leukemia, acute promyelocytic10.1ABCB1, ABCC1
7colon adenocarcinoma10.1ABCB1, ABCC1
8precursor t-cell acute lymphoblastic leukemia10.1ABCB1, ABCC1
9hematologic cancer10.1ABCB1, ABCC1
10wilms tumor10.0ABCB1, ABCC1
11lung cancer10.0ABCB1, ABCC1
12malignant glioma10.0ABCB1, ABCC1
13cholestasis10.0ABCB11, ABCC1
14rhabdomyosarcoma10.0DNAH8, ABCB1, ABCC1
15acute erythroid leukemia10.0ABCB1, ABCC1
16gastric cancer, somatic9.9DNAH8, ABCB1, ABCC1
17myelodysplastic syndrome9.9ABCB1, ABCB11
18hepatocellular carcinoma9.9ABCC1, ABCB1, DNAH8
19vascular disease9.9DNAH8, ABCC1
20rheumatoid arthritis9.9ABCC1, MEFV, DNAH8
21intrahepatic cholestasis9.9DNAH8, ABCB11, ABCC1
22liver cirrhosis9.8ABCC1, ABCB11, DNAH8
23small cell cancer of the lung, somatic9.8ABCB1, ABCB11, ABCC1
24sarcoma9.8ABCB1, ABCB11, ABCC1
25osteosarcoma, somatic9.8ABCC1, ABCB11, ABCB1
26ovarian cancer, somatic9.8ABCB1, ABCB11, ABCC1
27burkitt lymphoma9.8ABCB1, ABCB11, ABCC1
28epilepsy syndrome9.6ABCC1, ABCB11, ABCB1, DNAH8
29cystic fibrosis9.6DNAH8, ABCB1, ABCB11, ABCC1
30breast cancer9.6ABCC1, ABCB11, ABCB1, DNAH8
31adenocarcinoma9.6DNAH8, ABCB1, ABCB11, ABCC1
32leukemia9.6ABCC1, ABCB11, ABCB1, DNAH8
33melanoma9.6DNAH8, 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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Genetic tests related to Colchicine Resistance:

id Genetic test Affiliating Genes
1 Colchicine Resistance22

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:

35
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 20)
idTitleAuthorsYear
1
Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. (25760087)
2015
2
Colchicine-resistant familial Mediterranean fever in a renal transplantation patient: successful treatment with anakinra. (25852877)
2014
3
Comparative analyses of the I^-tubulin gene and molecular modeling reveal molecular insight into the colchicine resistance in kinetoplastids organisms. (24083244)
2013
4
Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever. (20386914)
2012
5
Normal QT dispersion in colchicine-resistant familial Mediterranean fever (FMF). (22526475)
2012
6
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial. (23070486)
2012
7
QT interval variability in familial Mediterranean fever: a study in colchicine-responsive and colchicine-resistant patients. (22271228)
2012
8
Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. (19075317)
2008
9
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
10
P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation. (11284688)
2001
11
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
12
Colchicine-resistance and enhancement of P-glycoprotein activity after co-cultivation of drug-sensitive cells with multidrug resistant variants. (7742775)
1995
13
Expression of phenotypic traits following modulation of colchicine resistance in J774.2 cells. (3700481)
1986
14
Colchicine resistance in human cell lines. Pleiotropic phenotype and decreased membrane permeability. (7129432)
1982
15
Persistence of colchicine resistance in Ehrlich-LettrAc ascites tumors and cell strains. (7334053)
1981
16
Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp. (490433)
1979
17
Dominance of colchicine resistance in hybrid CHO cells. (566474)
1978
18
A conditional cell division mutant of Chlamydomonas reinhardii having an increased level of colchicine resistance. (964308)
1976
19
Colchicine resistance in mammalian cell lines. (165207)
1975
20
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 Variation 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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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 Suite gene sharing:

(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 Suite gene sharing:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
18-azido-adp439.8ABCB1, DNAH8
2bodipy-verapamil439.7ABCB1, ABCB11
3sb 30439.5ABCB1, ABCC1
4idarubicinol439.5ABCB1, ABCC1
5biricodar439.5ABCB1, ABCC1
6clofazimine43 1210.5ABCB1, ABCB11
7daunoxome439.5ABCC1, ABCB1
8ortataxel439.4ABCB1, ABCC1
9mr20439.4ABCC1, ABCB1
10annamycin439.4ABCB1, ABCC1
11deoxycorticosterone acetate439.4ABCC1, ABCB1
12azidopine439.3ABCB11, ABCB1, DNAH8
13pirarubicin439.3ABCB1, ABCC1
14flupenthixol43 49 1211.3DNAH8, ABCB1, ABCB11
15fumitremorgin c439.3ABCC1, DNAH8
16ko 143599.2ABCC1, ABCB1
17tetramethylrosamine439.1ABCC1, ABCB1, DNAH8
18(125i)iodoarylazidoprazosin439.1ABCC1, DNAH8, ABCB1
19psc 833599.1ABCC1, ABCB1
208-azido-atp439.1DNAH8, ABCB1, ABCC1
21probenecid28 43 59 49 1213.0ABCB1, DNAH8, ABCC1
22mitoxantrone43 49 1211.0ABCB1, ABCC1, DNAH8
23tariquidar439.0ABCB1, ABCB11, ABCC1
24gf 120918439.0ABCC1, ABCB1, ABCB11
25psc-833439.0ABCB11, ABCB1, ABCC1
26ly335979439.0ABCC1, ABCB11, ABCB1
27idarubicin49 43 1211.0ABCB11, ABCB1, ABCC1
28Taurocholic acid24 1210.0ABCB1, ABCC1, ABCB11
29nelfinavir43 49 1211.0ABCC1, ABCB11, ABCB1
30cyclosporine49 1210.0ABCB1, ABCB11, ABCC1
31rifampin49 1210.0ABCB1, ABCC1, ABCB11
32saquinavir43 1210.0ABCC1, ABCB11, ABCB1
33taurocholate438.9ABCC1, ABCB1, ABCB11
34ritonavir43 49 1210.9ABCB1, ABCC1, ABCB11
35cholic acid43 28 24 1211.9ABCC1, ABCB11, ABCB1
36erythromycin43 2 49 1211.9ABCB11, ABCB1, ABCC1
37phenobarbital43 28 49 1211.6ABCC1, ABCB11, ABCB1
38rhodamine 12343 499.5DNAH8, ABCC1, ABCB1, ABCB11
39quinidine43 28 49 1211.5DNAH8, ABCC1, ABCB11, ABCB1
40digoxin43 59 49 24 1212.5ABCC1, DNAH8, ABCB1, ABCB11
41rifampicin43 28 5910.5ABCC1, ABCB11, ABCB1, DNAH8
42daunorubicin43 49 1210.5ABCB11, DNAH8, ABCB1, ABCC1
43vinblastine43 49 1210.5DNAH8, ABCB1, ABCB11, ABCC1
44colchicine43 59 2 28 1212.5ABCC1, ABCB11, ABCB1, MEFV
45verapamil43 28 49 24 1212.5ABCC1, ABCB11, ABCB1, DNAH8
46epinephrine43 24 1210.4DNAH8, ABCB1, ABCC1, ABCB11
47etoposide43 49 59 1211.4ABCB1, ABCC1, ABCB11, DNAH8
48doxorubicin43 49 1210.4ABCC1, ABCB1, ABCB11, DNAH8
49cyclosporin a43 28 5910.3DNAH8, ABCB1, ABCB11, ABCC1
50mitomycin c438.3ABCC1, ABCB1, ABCB11

GO Terms for genes affiliated with Colchicine Resistance

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Cellular components related to Colchicine Resistance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:00465819.1ABCB1, ABCB11
2membraneGO:00160208.6ABCB1, ABCB11, ABCC1

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:00550858.6ABCB1, ABCB11, ABCC1
2transportGO:00068108.3ABCB1, ABCB11, ABCC1

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.1DNAH8, ABCC1
2ATPase activity, coupled to transmembrane movement of substancesGO:00426268.6ABCB1, ABCB11, ABCC1
3transporter activityGO:00052158.5ABCB1, ABCB11, ABCC1
4ATP bindingGO:00055247.8ABCC1, ABCB11, ABCB1, DNAH8

Products for genes affiliated with Colchicine Resistance

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  • Antibodies
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  • Kits and Assays

Sources for Colchicine Resistance

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet