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, chronic. 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 20 21


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 fibrosis30.8CFTR
2pancreatitis, chronic10.0TGFB1, CFTR
3pancreatitis10.0TGFB1, CFTR
4chronic obstructive pulmonary disease10.0CFTR, TGFB1
5proteinuria10.0TGFB1, CFTR
6osteoporosis10.0TGFB1, CFTR
7cork-handlers' disease10.0TGFB1, CFTR
8pneumonia9.9CFTR, TGFB1
9primary hyperoxaluria9.9TGFB1, CFTR
10colonic benign neoplasm9.9CFTR, TGFB1
11leukemia9.9TGFB1, CFTR
12pancreatic cancer9.8TGFB1, CFTR
13melanoma9.8TGFB1, CFTR

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 Disorders21 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:

36
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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Expression patterns in normal tissues for genes affiliated with Cftr-Related Disorders

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
1sildenafil29 44 50 25 1213.5TGFB1, CFTR
2amiloride44 29 1211.5TGFB1, CFTR
3verapamil44 29 50 25 1213.5CFTR, TGFB1
4cytochalasin d44 6010.5TGFB1, CFTR
5citrate449.5TGFB1, CFTR
6formaldehyde44 2510.5CFTR, TGFB1
7curcumin449.4TGFB1, CFTR
8dmso449.4TGFB1, CFTR
9aspirin44 50 29 2512.4CFTR, TGFB1
10indomethacin44 29 60 1212.4TGFB1, CFTR
11butyrate449.4TGFB1, CFTR
12vitamin d449.4CFTR, TGFB1
13doxorubicin44 50 1211.4TGFB1, CFTR
14actinomycin d449.4TGFB1, CFTR
15paraffin449.3CFTR, TGFB1
16cyclosporin a44 29 6011.3TGFB1, CFTR
17glutamine449.3TGFB1, CFTR
18pge2449.2CFTR, TGFB1
19cisplatin44 50 60 1212.2TGFB1, CFTR
20dexamethasone44 50 29 1212.1TGFB1, CFTR
21retinoic acid44 2510.1TGFB1, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1TGFB1, CFTR
2microvillusGO:0059028.8TGFB1, CFTR

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

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.1TGFB1, CFTR

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

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:0198999.1TGFB1, CFTR

Products for genes affiliated with Cftr-Related Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cftr-Related Disorders

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet