MCID: CFT001
MIFTS: 26

Cftr-Related Disorders malady

Genetic diseases (common) category

Summaries for Cftr-Related Disorders

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MalaCards based summary: Cftr-Related Disorders is related to cystic fibrosis and pancreatitis, hereditary. An important gene associated with Cftr-Related Disorders is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)), and among its related pathways is Cytokine production by Th17 cells in CF. The compounds sildenafil and amiloride have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and digestive/alimentary.

GeneReviews summary for cf

Aliases & Classifications for Cftr-Related Disorders

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Cftr-Related Disorders, Aliases & Descriptions:

Name: Cftr-Related Disorders 21 22


Classifications:

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


Related Diseases for Cftr-Related Disorders

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Diseases related to Cftr-Related Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis30.6CFTR
2pancreatitis, hereditary10.0TGFB1, CFTR
3pancreatitis10.0TGFB1, CFTR
4pulmonary disease, chronic obstructive10.0TGFB1, CFTR
5proteinuria10.0CFTR, TGFB1
6osteoporosis10.0TGFB1, CFTR
7cork-handlers' disease10.0CFTR, TGFB1
8pneumonia10.0CFTR, TGFB1
9primary hyperoxaluria10.0CFTR, TGFB1
10colorectal cancer10.0CFTR, TGFB1
11leukemia10.0TGFB1, CFTR
12pancreatic cancer10.0TGFB1, CFTR
13melanoma10.0CFTR, TGFB1

Graphical network of diseases related to Cftr-Related Disorders:



Diseases related to cftr-related disorders

Symptoms for Cftr-Related Disorders

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Drugs & Therapeutics for Cftr-Related Disorders

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Drug clinical trials:

Search ClinicalTrials for Cftr-Related Disorders

Search NIH Clinical Center for Cftr-Related Disorders

Genetic Tests for Cftr-Related Disorders

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Genetic tests related to Cftr-Related Disorders:

id Genetic test Affiliating Genes
1 Cftr-Related Disorders22 CFTR

Anatomical Context for Cftr-Related Disorders

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Animal Models for Cftr-Related Disorders or affiliated genes

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MGI Mouse Phenotypes related to Cftr-Related Disorders:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1TGFB1, CFTR
2MP:00053819.1TGFB1, CFTR
3MP:00053709.0TGFB1, CFTR
4MP:00053888.8TGFB1, CFTR

Publications for Cftr-Related Disorders

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Articles related to Cftr-Related Disorders:

(show all 11)
idTitleAuthorsYear
1
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders? (24451227)
2014
2
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (23687349)
2013
3
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. (23470247)
2013
4
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. (23378603)
2013
5
Extensive molecular analysis of patients bearing CFTR-related disorders. (22020151)
2012
6
Recommendations for the classification of diseases as CFTR-related disorders. (21658649)
2011
7
UMD-CFTR: a database dedicated to CF and CFTR-related disorders. (20607857)
2010
8
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. (18685558)
2009
9
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. (19810821)
2009
10
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. (19092437)
2008
11
CFTR-Related Disorders (20301428)
1993

Variations for Cftr-Related Disorders

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Expression for genes affiliated with Cftr-Related Disorders

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Search GEO for disease gene expression data for Cftr-Related Disorders.

Pathways for genes affiliated with Cftr-Related Disorders

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Pathways related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1TGFB1, CFTR

Compounds for genes affiliated with Cftr-Related Disorders

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Compounds related to Cftr-Related Disorders according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1sildenafil30 45 51 26 1313.5TGFB1, CFTR
2amiloride45 30 1311.5TGFB1, CFTR
3verapamil45 30 51 26 1313.5CFTR, TGFB1
4cytochalasin d45 6110.5TGFB1, CFTR
5citrate459.5TGFB1, CFTR
6formaldehyde45 2610.5CFTR, TGFB1
7curcumin459.4TGFB1, CFTR
8dmso459.4TGFB1, CFTR
9aspirin45 51 30 2612.4CFTR, TGFB1
10indomethacin45 30 61 1312.4TGFB1, CFTR
11butyrate459.4TGFB1, CFTR
12vitamin d459.4CFTR, TGFB1
13doxorubicin45 51 1311.4TGFB1, CFTR
14actinomycin d459.4TGFB1, CFTR
15paraffin459.3CFTR, TGFB1
16cyclosporin a45 30 6111.3TGFB1, CFTR
17glutamine459.3TGFB1, CFTR
18pge2459.2CFTR, TGFB1
19cisplatin45 51 61 1312.2TGFB1, CFTR
20dexamethasone45 51 30 1312.1TGFB1, CFTR
21retinoic acid45 2610.1TGFB1, CFTR
22alanine459.0CFTR, TGFB1
23estrogen458.8TGFB1, CFTR

GO Terms for genes affiliated with Cftr-Related Disorders

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Cellular components related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.1TGFB1, CFTR
2microvillusGO:00059028.8TGFB1, CFTR

Biological processes related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:00424939.1TGFB1, CFTR

Molecular functions related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.1TGFB1, CFTR

Products for genes affiliated with Cftr-Related Disorders

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cftr-Related Disorders

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet