MCID: CFT001
MIFTS: 26

Cftr-Related Disorders malady

Genetic diseases (common) category

Summaries for Cftr-Related Disorders

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Sources:
20GeneReviews, 34MalaCards
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MalaCards: 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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Sources:
20GeneReviews, 21GeneTests
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Classifications:

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


Aliases & Descriptions:

cftr-related disorders 20 21


Related Diseases for Cftr-Related Disorders

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Cftr-Related Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis30.6CFTR
2pancreatitis, chronic10.0TGFB1, CFTR
3pancreatitis10.0TGFB1, CFTR
4pulmonary disease, chronic obstructive10.0CFTR, TGFB1
5proteinuria10.0TGFB1, CFTR
6osteoporosis10.0TGFB1, CFTR
7cork-handlers' disease10.0TGFB1, CFTR
8pneumonia10.0CFTR, TGFB1
9hypertrophy of breast10.0TGFB1, CFTR
10primary hyperoxaluria10.0TGFB1, CFTR
11colon cancer10.0CFTR, TGFB1
12leukemia10.0TGFB1, CFTR
13pancreatic cancer10.0TGFB1, CFTR
14melanoma9.9TGFB1, 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cftr-Related Disorders

Drug clinical trials:

Search ClinicalTrials for Cftr-Related Disorders

Search NIH Clinical Center for Cftr-Related Disorders

Search CenterWatch for Cftr-Related Disorders

Genetic Tests for Cftr-Related Disorders

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Sources:
21GeneTests
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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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Sources:
38MGI
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MGI Mouse Phenotypes related to Cftr-Related Disorders:

38
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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Sources:
53PubMed
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Articles related to Cftr-Related Disorders:

idTitleAuthorsYear
1
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (23687349)
2013
2
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. (23470247)
2013
3
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. (23378603)
2013
4
Extensive molecular analysis of patients bearing CFTR-related disorders. (22020151)
2012
5
Recommendations for the classification of diseases as CFTR-related disorders. (21658649)
2011
6
UMD-CFTR: a database dedicated to CF and CFTR-related disorders. (20607857)
2010
7
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. (18685558)
2009
8
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. (19810821)
2009
9
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. (19092437)
2008
10
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 61Thomson Reuters, 56Reactome
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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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Sources:
30IUPHAR, 46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Cftr-Related Disorders according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1sildenafil30 46 52 25 1213.5TGFB1, CFTR
2amiloride46 30 1211.5TGFB1, CFTR
3verapamil46 30 52 25 1213.5CFTR, TGFB1
4cytochalasin d46 6210.5TGFB1, CFTR
5citrate469.5TGFB1, CFTR
6formaldehyde46 2510.5CFTR, TGFB1
7curcumin469.4TGFB1, CFTR
8dmso469.4TGFB1, CFTR
9aspirin46 52 30 2512.4CFTR, TGFB1
10indomethacin46 30 62 1212.4TGFB1, CFTR
11butyrate469.4TGFB1, CFTR
12vitamin d469.4CFTR, TGFB1
13doxorubicin46 52 1211.4TGFB1, CFTR
14actinomycin d469.4TGFB1, CFTR
15paraffin469.3CFTR, TGFB1
16cyclosporin a46 30 6211.3TGFB1, CFTR
17glutamine469.3TGFB1, CFTR
18pge2469.2CFTR, TGFB1
19cisplatin46 52 62 1212.2TGFB1, CFTR
20dexamethasone46 52 30 1212.1TGFB1, CFTR
21retinoic acid46 2510.1TGFB1, CFTR
22alanine469.0CFTR, TGFB1
23estrogen468.8TGFB1, CFTR

GO Terms for genes affiliated with Cftr-Related Disorders

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Sources:
17Gene Ontology
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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

Sources for Cftr-Related Disorders

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet