MCID: CFT001
MIFTS: 22

Cftr-Related Disorders malady

Genetic diseases (common) category

Aliases & Classifications for Cftr-Related Disorders

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Aliases & Descriptions for Cftr-Related Disorders:

Name: Cftr-Related Disorders 19 20


Classifications:



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

Related Diseases for Cftr-Related Disorders

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis30.8CFTR
2pancreatitis, hereditary10.0TGFB1, CFTR
3pancreatitis10.0TGFB1, CFTR
4pulmonary disease, chronic obstructive10.0TGFB1, CFTR
5proteinuria10.0CFTR, TGFB1
6osteoporosis10.0TGFB1, CFTR
7cork-handlers' disease9.9CFTR, TGFB1
8pneumonia9.9CFTR, TGFB1
9primary hyperoxaluria9.9CFTR, TGFB1
10colorectal cancer9.9CFTR, TGFB1
11leukemia9.9TGFB1, CFTR
12pancreatic cancer9.8TGFB1, CFTR
13melanoma9.7CFTR, 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 Disorders20 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:

35
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 Suite gene sharing:

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 Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
1sildenafil28 44 50 24 1113.5TGFB1, CFTR
2amiloride44 28 1111.5TGFB1, CFTR
3verapamil44 28 50 24 1113.5CFTR, TGFB1
4cytochalasin d44 6010.5TGFB1, CFTR
5citrate449.5TGFB1, CFTR
6formaldehyde44 2410.5CFTR, TGFB1
7curcumin449.4TGFB1, CFTR
8dmso449.4TGFB1, CFTR
9aspirin44 50 28 2412.4CFTR, TGFB1
10indomethacin44 28 60 1112.4TGFB1, CFTR
11butyrate449.4TGFB1, CFTR
12vitamin d449.4CFTR, TGFB1
13doxorubicin44 50 1111.4TGFB1, CFTR
14actinomycin d449.4TGFB1, CFTR
15paraffin449.3CFTR, TGFB1
16cyclosporin a44 28 6011.3TGFB1, CFTR
17glutamine449.3TGFB1, CFTR
18pge2449.2CFTR, TGFB1
19cisplatin44 50 60 1112.2TGFB1, CFTR
20dexamethasone44 50 28 1112.1TGFB1, CFTR
21retinoic acid44 2410.1TGFB1, CFTR
22alanine449.0CFTR, TGFB1
23estrogen448.8TGFB1, CFTR

GO Terms for genes affiliated with Cftr-Related Disorders

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Cellular components related to Cftr-Related Disorders according to GeneCards Suite gene sharing:

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

Biological processes related to Cftr-Related Disorders according to GeneCards Suite gene sharing:

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

Molecular functions related to Cftr-Related Disorders according to GeneCards Suite gene sharing:

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

Sources for Cftr-Related Disorders

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet