MCID: CYS001
MIFTS: 85

Cystic Fibrosis

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases, Respiratory diseases, Gastrointestinal diseases, Liver diseases, Reproductive diseases

Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 53 37 12 72 72 49 24 55 71 36 28 13 51 40 41 14 69 59
Mucoviscidosis 53 12 49 24 55 71
Cf 53 12 49 24 55 71
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 53
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 53
Cystic Fibrosis Lung Disease, Modifier of 53
Fibrocystic Disease of Pancreas 24
Cystic Fibrosis of Pancreas 24

Characteristics:

Orphanet epidemiological data:

55
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

31
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cystic Fibrosis

MedlinePlus : 40 Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Cystic Fibrosis, also known as mucoviscidosis, is related to bronchiectasis with or without elevated sweat chloride 1 and meconium ileus, and has symptoms including recurrent respiratory infections, hepatomegaly and malabsorption. An important gene associated with Cystic Fibrosis is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways are ABC transporters and Ion channel transport. The drugs Cayston and Kalydeco have been mentioned in the context of this disorder. Affiliated tissues include Lung and Lung, and related phenotypes are homeostasis/metabolism and digestive/alimentary

OMIM : 53 Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). Infertility occurs in males and females. For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400). (219700)

UniProtKB/Swiss-Prot : 71 Cystic fibrosis: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.

NIH Rare Diseases : 49 Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. Symptoms may include very salty-tasting skin persistent coughing frequent lung infections including pneumonia or bronchitis, wheezing or shortness of breath, poor growth, weight loss, frequent greasy, bulky stools or difficulty with bowel movements, and, in males, infertility. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms, and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, nutritional supplements, and others. Newer medication such as CFTR modulators have been approved for use in United States. Ongoing research is focused on finding the cure for the disease. Last updated: 9/22/2017

Genetics Home Reference : 24 Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Disease Ontology : 12 An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.

PubMed Health : 59
About cystic fibrosis: Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat."Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don't have the disease themselves.CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Related Diseases for Cystic Fibrosis

Diseases related to Cystic Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 408)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 33.9 CFTR SCNN1B
2 meconium ileus 33.4 CFTR CLCA1 GUCY2C
3 bronchiectasis 33.3 CFTR CXCL8 ELANE SCNN1A SCNN1B SCNN1G
4 pseudohypoaldosteronism, type i, autosomal recessive 32.5 SCNN1A SCNN1B SCNN1G
5 lung disease 32.0 CFTR CXCL8 ELANE IFRD1 TGFB1
6 bronchitis 31.1 CFTR CXCL8 ELANE
7 pseudohypoaldosteronism 30.8 SCNN1A SCNN1B SCNN1G
8 alpha-1-antitrypsin deficiency 30.8 CFTR CXCL8 ELANE
9 idiopathic bronchiectasis 30.5 CFTR SCNN1A SCNN1B SCNN1G
10 inflammatory bowel disease 30.4 CXCL8 DEFB1 ELANE S100A8 S100A9 TGFB1
11 periodontitis 30.4 CXCL8 DEFB1 ELANE
12 systemic lupus erythematosus 29.9 DNASE1 ELANE FCGR2A S100A8 S100A9 TGFB1
13 cystic fibrosis, modifier of, 1 12.4
14 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.2
15 cystic fibrosis and congenital absence of the vas deferens 12.0
16 bronchiectasis with or without elevated sweat chloride 2 11.9
17 bronchiectasis with or without elevated sweat chloride 3 11.9
18 vas deferens, congenital bilateral aplasia of 11.5
19 allergic bronchopulmonary aspergillosis 11.5
20 pancreatitis 11.4
21 aspergillosis 11.4
22 aquagenic syringeal acrokeratoderm 11.4
23 fibrosis of extraocular muscles, congenital, 1 11.3
24 exocrine pancreatic insufficiency 11.3
25 stenotrophomonas maltophilia infection 11.2
26 keratomalacia 11.2
27 lubani-al saleh-teebi syndrome 11.2
28 shwachman-diamond syndrome 11.2
29 respiratory failure 11.2
30 nontuberculous mycobacterial lung disease 11.2
31 bile acid synthesis defect, congenital, 2 10.9
32 young syndrome 10.9
33 bartter syndrome, type 3 10.9
34 bile acid synthesis defect, congenital, 1 10.9
35 middle lobe syndrome 10.9
36 pseudohypoaldosteronism, type i, autosomal dominant 10.8 SCNN1A SCNN1B SCNN1G
37 liddle syndrome 10.8 CFTR SCNN1A SCNN1B SCNN1G
38 autosomal genetic disease 10.8 CFTR DNASE1 ELANE
39 miliaria rubra 10.7 CFTR SCNN1G
40 respiratory system disease 10.7 CFTR CXCL8 ELANE
41 idiopathic interstitial pneumonia 10.7 CXCL8 ELANE TGFB1
42 gastritis 10.7 CXCL8 DEFB1 S100A8
43 bartter syndrome, type 2, antenatal 10.7 SCNN1B SCNN1G
44 pancreatic ductal adenocarcinoma 10.7
45 leukoregulin 10.6 CXCL8 TGFB1
46 periodontal disease 10.6 CXCL8 DEFB1 ELANE
47 erythema elevatum diutinum 10.6 CXCL8 S100A9
48 aggressive periodontitis 10.5 CXCL8 DEFB1 FCGR2A
49 felty syndrome 10.5 CXCL8 ELANE
50 bestrophinopathy 10.5 CLCA1 CLCA4

Graphical network of the top 20 diseases related to Cystic Fibrosis:



Diseases related to Cystic Fibrosis

Symptoms & Phenotypes for Cystic Fibrosis

Symptoms via clinical synopsis from OMIM:

53
Growth Other:
failure to thrive

Laboratory Abnormalities:
hypercalciuria
high sweat sodium and chloride
hyponatremic dehydration, rarely
abnormal nasal potential differences
high newborn serum levels of immunoreactive trypsinogen

Abdomen Gastroin testinal:
rectal prolapse
meconium ileus in neonates (10-15%)
distal intestinal obstruction syndrome
adenocarcinoma of the ileum

Abdomen Pancreas:
pancreatic insufficiency in 80%

Genitourinary Internal Genitalia Female:
female decreased fertility due to thickened cervical secretions and chronic lung disease

Abdomen Biliary Tract:
biliary cirrhosis

Respiratory Airways:
asthma
bronchiectasis
pulmonary blebs
chronic bronchopulmonary infection
pseudomonas colonization

Cardiovascular Heart:
cor pulmonale

Genitourinary Internal Genitalia Male:
male infertility (98%) due to congenital bilateral absence of the vas deferens (cbavd)


Clinical features from OMIM:

219700

Human phenotypes related to Cystic Fibrosis:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
3 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
4 pulmonary fibrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002206
5 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
6 biliary cirrhosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002613
7 exocrine pancreatic insufficiency 55 31 frequent (33%) Very frequent (99-80%) HP:0001738
8 decreased antibody level in blood 55 31 hallmark (90%) Very frequent (99-80%) HP:0004313
9 failure to thrive 31 HP:0001508
10 dehydration 31 occasional (7.5%) HP:0001944
11 hypercalciuria 31 HP:0002150
12 asthma 31 HP:0002099
13 recurrent pneumonia 31 HP:0006532
14 rectal prolapse 31 HP:0002035
15 male infertility 31 HP:0003251
16 bronchiectasis 31 HP:0002110
17 recurrent bronchopulmonary infections 31 HP:0006538
18 chronic lung disease 31 HP:0006528
19 cor pulmonale 31 HP:0001648
20 elevated sweat chloride 31 HP:0012236
21 meconium ileus 31 HP:0004401

UMLS symptoms related to Cystic Fibrosis:


snoring, hemoptysis, coughing

MGI Mouse Phenotypes related to Cystic Fibrosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 CFTR CLCA1 DNAJC5 DNASE1 ELANE GUCY2C
2 digestive/alimentary MP:0005381 9.7 CFTR GUCY2C SCNN1A SCNN1B SCNN1G SLC9A3R1
3 mortality/aging MP:0010768 9.47 CFTR DNAJC5 DNASE1 ELANE FCGR2A GUCY2C

Drugs & Therapeutics for Cystic Fibrosis

PubMedHealth treatment related to Cystic Fibrosis: 59

Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:Preventing and controlling lung infectionsLoosening and removing thick, sticky mucus from the lungsPreventing or treating blockages in the intestinesProviding enough nutritionPreventing dehydration (a lack of fluid in the body)Depending on the severity of CF, you or your child may be treated in a hospital.

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Cayston 17 AZTREONAM Gilead February 2010
2
Kalydeco 17 IVACAFTOR Vertex Pharmaceuticals January of 2012
3
Orkambi 17 IVACAFTOR; LUMACAFTOR Vertex Pharmaceuticals July 2015
4
Pulmozyme 17 DORNASE ALFA Genentech December 1996|March 1998
5
Tobi 17 TOBRAMYCIN PathoGenesis December 1997

Drugs for Cystic Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 473)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftazidime Approved Phase 4,Phase 1 72558-82-8, 78439-06-2 5481173
2
Meropenem Approved, Investigational Phase 4 119478-56-7 441130 64778
3
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 32986-56-4 36294 5496
4
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
5
Azithromycin Approved Phase 4,Phase 3,Phase 2,Phase 1 83905-01-5 53477736 447043 55185
6
Menthol Approved Phase 4,Phase 3,Phase 1 2216-51-5 16666
7
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1
8
Aztreonam Approved Phase 4,Phase 3,Phase 2 78110-38-0 5742832 5362041
9
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
11
Piperacillin Approved Phase 4 66258-76-2 43672
12
Tazobactam Approved Phase 4 89786-04-9 123630
13
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1 85721-33-1 2764
14
Colistin Approved Phase 4,Phase 3,Phase 2,Phase 1 1066-17-7, 1264-72-8 5311054
15
Itraconazole Approved, Investigational Phase 4,Phase 2,Phase 1 84625-61-6 55283
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
17
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2 564-25-0 54671203
18
Pancrelipase Approved, Investigational Phase 4,Phase 3,Phase 2 53608-75-6
19
Altretamine Approved Phase 4,Phase 1 645-05-6 2123
20
Alendronate Approved Phase 4,Phase 3 121268-17-5, 66376-36-1 2088
21 Avibactam Approved Phase 4 1192500-31-4
22
Nicotine Approved Phase 4 54-11-5 89594 942
23
Tamoxifen Approved Phase 4 10540-29-1 2733526
24
Fosfomycin Approved Phase 4,Phase 2 23155-02-4 446987
25
Ticarcillin Approved, Investigational, Vet_approved Phase 4 34787-01-4 36921
26
Rifampin Approved Phase 4,Phase 2,Phase 1 13292-46-1 5381226 5458213
27
Telavancin Approved Phase 4 372151-71-8
28
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
29
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
30
Omalizumab Approved, Investigational Phase 4 242138-07-4
31
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
32
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 10883523 5280795 6221
33
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
34
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
35 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
37 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Antidotes Phase 4,Phase 2,Phase 1
39 Antioxidants Phase 4,Phase 2,Phase 1
40 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
41 Expectorants Phase 4,Phase 3,Phase 2,Phase 1
42 N-monoacetylcystine Phase 4,Phase 2,Phase 1
43 Protective Agents Phase 4,Phase 2,Phase 1
44 Respiratory System Agents Phase 4,Phase 3,Phase 1,Phase 2
45 Vaccines Phase 4
46 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
47 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
48 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
50 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1037)

# Name Status NCT ID Phase Drugs
1 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
2 Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis Unknown status NCT01044719 Phase 4 Ceftazidime;Tobramycin;Meropenem
3 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms Unknown status NCT00866866 Phase 4 N-Acetyl Cysteine;Placebo
4 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
5 Backpack Carrying in Children With Cystic Fibrosis Completed NCT02700282 Phase 4
6 Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination Completed NCT01499914 Phase 4
7 Pharmacokinetics of Piperacillin, Given as Continuous Infusion to Patients With Cystic Fibrosis Completed NCT01983787 Phase 4
8 Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis Completed NCT01608555 Phase 4 tobramycin
9 Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis Completed NCT01400750 Phase 4 oral ciprofloxacin plus inhaled colistin;TOBI
10 Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis Completed NCT01377792 Phase 4 Hypertonic saline
11 RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
12 Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? Completed NCT00890370 Phase 4
13 Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis Completed NCT00528190 Phase 4 Itraconazole
14 Effect of Lactobacillus Reuteri in Cystic Fibrosis Completed NCT01737983 Phase 4
15 Comparison of Absorption of Vitamin D in Cystic Fibrosis Completed NCT01880346 Phase 4
16 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis Completed NCT01207245 Phase 4
17 The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
18 Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa Completed NCT00431964 Phase 4 azithromycin 250 mg tablets;placebo tablets
19 Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings Completed NCT00685035 Phase 4
20 Doxycycline Effects on Inflammation in Cystic Fibrosis Completed NCT01323101 Phase 4 Doxycycline
21 A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis Completed NCT01712334 Phase 4 dornase alfa [Pulmozyme®];dornase alfa [Pulmozyme®]
22 Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis Completed NCT01519661 Phase 4 TBM100
23 Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
24 Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children Completed NCT01429259 Phase 4 meropenem
25 A Study of the Effects of Lumacaftor/Ivacaftor on Exercise Tolerance in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Completed NCT02875366 Phase 4 LUM/IVA;Placebo
26 Scandinavian Cystic Fibrosis Azithromycin Study Completed NCT00411736 Phase 4 Study medication, azithromycin or placebo;Azithromycin or placebo tablets
27 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
28 Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Completed NCT02421120 Phase 4 Ceftolozane/Tazobactam
29 Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients Completed NCT02178540 Phase 4 Placebo
30 Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients Completed NCT00157690 Phase 4 Alendronate;Placebo
31 Ease of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI) Completed NCT01844778 Phase 4 Tobramycin Inhalation Powder;Tobramycin inhalation solution;Colistimethate
32 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis Completed NCT02504827 Phase 4 Ceftazidime/avibactam
33 Evaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations Completed NCT03256799 Phase 4 Ivacaftor
34 One Year Glargine Treatment in CFRD Children and Adolescents Completed NCT00483769 Phase 4 Glargine
35 PR-018: An Open-Label, Safety Extension of Study PR-011 Completed NCT01131507 Phase 4 EUR-1008 (APT-1008)
36 A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age Completed NCT01100606 Phase 4 EUR-1008 (APT-1008);EUR-1008 (APT-1008)
37 Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
38 Electro Flo 5000 and Vest Therapy Completed NCT02277626 Phase 4
39 Clinical Study With an Enteral Formula With Symbiotic and DHA for Malnourished Children Completed NCT02128984 Phase 4
40 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
41 Ext. Long-term Safety Study in CF Patients: Single Arm TIP Completed NCT01775137 Phase 4 TBM100
42 Dornase Alfa Therapy for Ventilator Associated Lung Infections in the Neonatal Intensive Care Unit (NICU) Completed NCT01356147 Phase 4 Dornase alfa;Placebo
43 Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease Completed NCT00639236 Phase 4
44 Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer Completed NCT00999921 Phase 4 Tamoxifen;Evening Primrose Oil
45 Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis Recruiting NCT02444234 Phase 4 Tedizolid PO/IV;Tedizolid IV/PO
46 Telavancin Pharmacokinetics in Cystic Fibrosis Patients Recruiting NCT03172793 Phase 4 Telavancin Injection
47 Aztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis Recruiting NCT02894684 Phase 4 Aztreonam;Standard Care
48 EASY: Extended Access to Sollpura Over Years Recruiting NCT02823964 Phase 4 Liprotamase
49 Standardized Treatment of Pulmonary Exacerbations II Recruiting NCT02781610 Phase 4 Standard of care IV antibiotic(s)
50 Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF Recruiting NCT02677701 Phase 4 azithromycin;placebo (for azithromycin);inhaled tobramycin

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cystic Fibrosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cystic Fibrosis:
Mesenchymal stem cells for cystic fibrosis
Embryonic/Adult Cultured Cells Related to Cystic Fibrosis:
Mouse bone marrow-derived mesenchymal stem cells (family) PMIDs: 21658631 20801416

Cochrane evidence based reviews: cystic fibrosis

Genetic Tests for Cystic Fibrosis

Genetic tests related to Cystic Fibrosis:

# Genetic test Affiliating Genes
1 Cystic Fibrosis 28 CFTR TGFB1

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

38
Lung, Testes, Pancreas, Liver, Neutrophil, Colon, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cystic Fibrosis:
# Tissue Anatomical CompartmentCell Relevance
1 Lung Respiratory Bronchioles Basal Cells Potential therapeutic candidate
2 Lung Respiratory Bronchioles Cilliated Cells Potential therapeutic candidate, affected by disease
3 Lung Submucosal Glands Affected by disease

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

(show top 50) (show all 3904)
# Title Authors Year
1
Risk factors for persistent Aspergillus respiratory isolation in cystic fibrosis. ( 29444760 )
2018
2
Implementation of a successful eradication protocol for Burkholderia Cepacia complex in cystic fibrosis patients. ( 29444656 )
2018
3
RESPIRE 2: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371384 )
2018
4
Islet Interleukin-1I^ Immunoreactivity Is an Early Feature of Cystic Fibrosis That May Contribute to I^-Cell Failure. ( 29437698 )
2018
5
Liver disease in patients with cystic fibrosis. ( 29438119 )
2018
6
First experience in Switzerland in Phe508del homozygous cystic fibrosis patients with end-stage pulmonary disease enrolled in a lumacaftor-ivacaftor therapy trial - preliminary results. ( 29451946 )
2018
7
Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study. ( 29366817 )
2018
8
Aquagenic Wrinkling of the Palms in Patients with Cystic Fibrosis. ( 29451691 )
2018
9
13C-Mixed Triglyceride Breath Test and Fecal Elastase as an Indirect Pancreatic Function Test in Cystic Fibrosis Infants. ( 29432279 )
2018
10
Evolution of the<i>Pseudomonas aeruginosa</i>aminoglycoside mutational resistome in vitro and in the cystic fibrosis setting. ( 29437613 )
2018
11
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
12
Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era. ( 29436379 )
2018
13
Lung clearance index to monitor treatment response in pulmonary exacerbations in preschool children with cystic fibrosis. ( 29449440 )
2018
14
Crossover Evaluation of Compressors and Nebulizers Typically Used by Cystic Fibrosis Patients. ( 29432139 )
2018
15
Prognostic significance of pulmonary hypertension in patients with cystic fibrosis: A systematic review and meta-analysis. ( 29443734 )
2018
16
Chronic infection sustained by a Pseudomonas aeruginosa High-Risk clone producing the VIM-1 metallo-I^-lactamase in a cystic fibrosis patient after lung transplantation. ( 29444761 )
2018
17
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis. ( 29054758 )
2018
18
Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. ( 29446568 )
2018
19
Inhaled Granulocyte-Macrophage Colony Stimulating Factor for<b> <i>Mycobacterium Abscessus</i> </b>in Cystic Fibrosis. ( 29419443 )
2018
20
Reference percentiles of FEV1 for the Canadian cystic fibrosis population: comparisons across time and countries. ( 29434047 )
2018
21
Relationship between Physical Activity and Fatigue in Adults with Cystic Fibrosis. ( 29434417 )
2018
22
RESPIRE 1: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371383 )
2018
23
Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline. ( 28617084 )
2017
24
Venous thromboembolism in children with cystic fibrosis: Retrospective incidence and intrapopulation risk factors. ( 28934665 )
2017
25
Cysteamine re-establishes the clearance of Pseudomonas aeruginosa by macrophages bearing the cystic fibrosis-relevant F508del-CFTR mutation. ( 28079883 )
2017
26
Genetic Variants and Altered Expression of non-CFTR Genes May Explain Differences in Cystic Fibrosis Severity. ( 28954200 )
2017
27
High-expressing cystic fibrosis transmembrane conductance regulator interacts with histone deacetylase 2 to promote the development of Ph+ leukemia through the HDAC2-mediated PTEN pathway. ( 28235656 )
2017
28
Cystic Fibrosis Transmembrane Conductance Regulator Attaches Tumor Suppressor PTEN to the Membrane and Promotes Anti Pseudomonas aeruginosa Immunity. ( 29246444 )
2017
29
Glucose tolerance & insulin secretion & sensitivity characteristics in Indian children with cystic fibrosis: A pilot study. ( 29434062 )
2017
30
Lower Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Promotes the Proliferation and Migration of Endometrial Carcinoma. ( 28225751 )
2017
31
Microbial Dysbiosis in Bronchiectasis and Cystic Fibrosis. ( 28069292 )
2017
32
The Semi-Synthetic Peptide Lin-SB056-1 in Combination with EDTA Exerts Strong Antimicrobial and Antibiofilm Activity against Pseudomonas aeruginosa in Conditions Mimicking Cystic Fibrosis Sputum. ( 28926942 )
2017
33
Mechanisms of intrinsic resistance and acquired susceptibility of Pseudomonas aeruginosa isolated from cystic fibrosis patients to temocillin, a revived antibiotic. ( 28091521 )
2017
34
Treatment decisions for MRSA in patients with cystic fibrosis (CF): when is enough, enough? ( 28077615 )
2017
35
Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013. ( 28944141 )
2017
36
Investigating the feasibility of text message reminders to improve adherence to nebulized medication in children and adolescents with cystic fibrosis. ( 28507430 )
2017
37
The HDAC inhibitor SAHA does not rescue CFTR membrane expression in Cystic Fibrosis. ( 28478266 )
2017
38
Elevated IgG4 serum levels in patients with cystic fibrosis. ( 28922375 )
2017
39
Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene. ( 28952009 )
2017
40
Sepsis and acute respiratory distress syndrome requiring extracorporeal life support in an adolescent with mild cystic fibrosis. ( 28948140 )
2017
41
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review. ( 28859703 )
2017
42
Draft genome sequence of an aminoglycoside-resistant RmtG-producing Pseudomonas aeruginosa ST235 isolated from a cystic fibrosis patient. ( 28082143 )
2017
43
Inhibition of Myeloperoxidase Activity in Cystic Fibrosis Sputum by Peptide Inhibitor of Complement C1 (PIC1). ( 28135312 )
2017
44
Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. ( 26996268 )
2017
45
Meconium ileus in Cystic Fibrosis. ( 28986020 )
2017
46
Palivizumab prophylaxis in infants with cystic fibrosis does not delay first isolation of Pseudomonas aeruginosa or Staphylococcus aureus. ( 28508992 )
2017
47
Two cases of non-cystic fibrosis (CF) bronchiectasis with allergic bronchopulmonary aspergillosis. ( 28053855 )
2017
48
Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients. ( 27148940 )
2017
49
Four case reports of Chinese cystic fibrosis patients and literature review. ( 28608624 )
2017
50
Face Masks and Cough Etiquette Reduce the Cough Aerosol Concentration of Pseudomonas aeruginosa in People with Cystic Fibrosis. ( 28930641 )
2017

Variations for Cystic Fibrosis

UniProtKB/Swiss-Prot genetic disease variations for Cystic Fibrosis:

71 (show top 50) (show all 133)
# Symbol AA change Variation ID SNP ID
1 CFTR p.Ser13Phe VAR_000101 rs397508635
2 CFTR p.Arg31Leu VAR_000103 rs149353983
3 CFTR p.Ser42Phe VAR_000104 rs143456784
4 CFTR p.Asp44Gly VAR_000105 rs1800074
5 CFTR p.Trp57Gly VAR_000108 rs397508272
6 CFTR p.Pro67Leu VAR_000109 rs368505753
7 CFTR p.Arg74Trp VAR_000110 rs115545701
8 CFTR p.Gly85Glu VAR_000112 rs75961395
9 CFTR p.Phe87Leu VAR_000113 rs397508403
10 CFTR p.Gly91Arg VAR_000114 rs121908750
11 CFTR p.Glu92Lys VAR_000115 rs121908751
12 CFTR p.Gln98Arg VAR_000116 rs397508464
13 CFTR p.Ile105Ser VAR_000117
14 CFTR p.Tyr109Cys VAR_000118 rs121909031
15 CFTR p.Asp110His VAR_000119 rs113993958
16 CFTR p.Arg117Cys VAR_000121 rs77834169
17 CFTR p.Arg117His VAR_000122 rs78655421
18 CFTR p.Arg117Leu VAR_000123 rs78655421
19 CFTR p.Arg117Pro VAR_000124 rs78655421
20 CFTR p.Ala120Thr VAR_000125 rs201958172
21 CFTR p.His139Arg VAR_000126 rs76371115
22 CFTR p.Ala141Asp VAR_000127 rs397508700
23 CFTR p.Ile148Thr VAR_000128 rs35516286
24 CFTR p.Gly178Arg VAR_000130 rs80282562
25 CFTR p.Glu193Lys VAR_000132 rs397508759
26 CFTR p.His199Gln VAR_000133 rs397508765
27 CFTR p.His199Tyr VAR_000134 rs121908802
28 CFTR p.Pro205Ser VAR_000135 rs121908803
29 CFTR p.Leu206Trp VAR_000136 rs121908752
30 CFTR p.Cys225Arg VAR_000137 rs397508780
31 CFTR p.Asn287Tyr VAR_000140 rs397508804
32 CFTR p.Arg297Gln VAR_000141 rs143486492
33 CFTR p.Tyr301Cys VAR_000142 rs150691494
34 CFTR p.Ser307Asn VAR_000143 rs397508817
35 CFTR p.Phe311Leu VAR_000144 rs121909016
36 CFTR p.Gly314Glu VAR_000146 rs75763344
37 CFTR p.Gly314Arg VAR_000147 rs397508819
38 CFTR p.Arg334Trp VAR_000148 rs121909011
39 CFTR p.Ile336Lys VAR_000150 rs397508139
40 CFTR p.Thr338Ile VAR_000151 rs77409459
41 CFTR p.Leu346Pro VAR_000152 rs397508146
42 CFTR p.Arg347His VAR_000153 rs77932196
43 CFTR p.Arg347Leu VAR_000154 rs77932196
44 CFTR p.Arg347Pro VAR_000155 rs77932196
45 CFTR p.Arg352Gln VAR_000156 rs121908753
46 CFTR p.Gln359Lys VAR_000157 rs76879328
47 CFTR p.Ala455Glu VAR_000160 rs74551128
48 CFTR p.Val456Phe VAR_000161 rs397508195
49 CFTR p.Gly458Val VAR_000162 rs121909009
50 CFTR p.Gly480Cys VAR_000165 rs79282516

ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 425)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFB1 NM_000660.6(TGFB1): c.29C> T (p.Pro10Leu) single nucleotide variant risk factor rs1800470 GRCh37 Chromosome 19, 41858921: 41858921
2 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh37 Chromosome 7, 117246808: 117246808
3 CFTR NM_000492.3(CFTR): c.1911delG (p.Gln637Hisfs) deletion Pathogenic rs121908778 GRCh37 Chromosome 7, 117232132: 117232132
4 CFTR NM_000492.3(CFTR): c.114C> G (p.Tyr38Ter) single nucleotide variant Likely pathogenic rs193922498 GRCh37 Chromosome 7, 117144367: 117144367
5 CFTR NM_000492.3(CFTR): c.1367T> C (p.Val456Ala) single nucleotide variant Likely pathogenic rs193922500 GRCh37 Chromosome 7, 117188852: 117188852
6 CFTR NM_000492.3(CFTR): c.1397C> G (p.Ser466Ter) single nucleotide variant Pathogenic rs121908805 GRCh37 Chromosome 7, 117199522: 117199522
7 CFTR NM_000492.3(CFTR): c.1400T> C (p.Leu467Pro) single nucleotide variant Pathogenic rs139573311 GRCh37 Chromosome 7, 117199525: 117199525
8 CFTR NM_000492.3(CFTR): c.1585-8G> A single nucleotide variant Pathogenic rs193922503 GRCh37 Chromosome 7, 117227785: 117227785
9 CFTR NM_000492.3(CFTR): c.1673T> C (p.Leu558Ser) single nucleotide variant Likely pathogenic rs193922504 GRCh37 Chromosome 7, 117227881: 117227881
10 CFTR NM_000492.3(CFTR): c.1692delA (p.Asp565Metfs) deletion Pathogenic rs193922505 GRCh37 Chromosome 7, 117230419: 117230419
11 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic rs121908759 GRCh37 Chromosome 7, 117232086: 117232086
12 CFTR NM_000492.3(CFTR): c.2012delT (p.Leu671Terfs) deletion Pathogenic rs121908812 GRCh37 Chromosome 7, 117232233: 117232233
13 CFTR NM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs) indel Pathogenic rs121908799 GRCh37 Chromosome 7, 117232272: 117232273
14 CFTR NM_000492.3(CFTR): c.2052dupA (p.Gln685Thrfs) duplication Pathogenic rs121908786 GRCh37 Chromosome 7, 117232273: 117232273
15 CFTR NM_000492.3(CFTR): c.273+3A> C single nucleotide variant Pathogenic rs74467662 GRCh37 Chromosome 7, 117149199: 117149199
16 CFTR NM_000492.3(CFTR): c.2768C> A (p.Ala923Asp) single nucleotide variant Likely pathogenic rs193922509 GRCh37 Chromosome 7, 117243696: 117243696
17 CFTR NM_000492.3(CFTR): c.2810dupT (p.Val938Glyfs) duplication Pathogenic rs193922510 GRCh37 Chromosome 7, 117243738: 117243738
18 CFTR NM_000492.3(CFTR): c.2909G> A (p.Gly970Asp) single nucleotide variant Likely pathogenic rs386134230 GRCh37 Chromosome 7, 117246728: 117246728
19 CFTR NM_000492.3(CFTR): c.2932A> T (p.Lys978Ter) single nucleotide variant Likely pathogenic rs193922514 GRCh37 Chromosome 7, 117246751: 117246751
20 CFTR NM_000492.3(CFTR): c.2988G> A (p.Gln996=) single nucleotide variant Pathogenic rs121908797 GRCh37 Chromosome 7, 117246807: 117246807
21 CFTR NM_000492.3(CFTR): c.2989-2A> T single nucleotide variant Likely pathogenic rs193922515 GRCh37 Chromosome 7, 117250571: 117250571
22 CFTR NM_000492.3(CFTR): c.3038C> A (p.Pro1013His) single nucleotide variant Likely pathogenic rs193922516 GRCh37 Chromosome 7, 117250622: 117250622
23 CFTR NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys) single nucleotide variant Pathogenic rs144055758 GRCh37 Chromosome 7, 117250679: 117250679
24 CFTR NM_000492.3(CFTR): c.3140-26A> G single nucleotide variant Pathogenic rs76151804 GRCh37 Chromosome 7, 117251609: 117251609
25 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
26 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic/Likely pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
27 CFTR NM_000492.3(CFTR): c.3528delC (p.Lys1177Serfs) deletion Pathogenic rs121908747 GRCh37 Chromosome 7, 117267635: 117267635
28 CFTR NM_000492.3(CFTR): c.3691delT (p.Ser1231Profs) deletion Pathogenic rs121908783 GRCh37 Chromosome 7, 117267798: 117267798
29 CFTR NM_000492.3(CFTR): c.370G> C (p.Gly124Arg) single nucleotide variant Likely pathogenic rs193922519 GRCh37 Chromosome 7, 117171049: 117171049
30 CFTR NM_000492.3(CFTR): c.3717+5G> A single nucleotide variant Likely pathogenic rs193922520 GRCh37 Chromosome 7, 117267829: 117267829
31 CFTR NM_000492.3(CFTR): c.380_382dupTAT (p.Leu127_Cys128insLeu) duplication Likely pathogenic rs193922521 GRCh37 Chromosome 7, 117171059: 117171061
32 CFTR NM_000492.3(CFTR): c.3957_3958insAGGG (p.Asp1320Argfs) insertion Likely pathogenic rs193922523 GRCh37 Chromosome 7, 117292979: 117292980
33 CFTR NM_000492.3(CFTR): c.3997G> T (p.Gly1333Trp) single nucleotide variant Likely pathogenic rs193922524 GRCh37 Chromosome 7, 117304775: 117304775
34 CFTR NM_000492.3(CFTR): c.4046G> A (p.Gly1349Asp) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs193922525 GRCh37 Chromosome 7, 117304824: 117304824
35 CFTR NM_000492.3(CFTR): c.4242+2T> C single nucleotide variant Likely pathogenic rs193922526 GRCh37 Chromosome 7, 117305620: 117305620
36 CFTR NM_000492.3(CFTR): c.4280T> C (p.Ile1427Thr) single nucleotide variant Likely pathogenic rs193922528 GRCh37 Chromosome 7, 117306999: 117306999
37 CFTR NM_000492.3(CFTR): c.592G> A (p.Ala198Thr) single nucleotide variant Likely pathogenic rs193922529 GRCh37 Chromosome 7, 117175314: 117175314
38 CFTR NM_000492.3(CFTR): c.825C> G (p.Tyr275Ter) single nucleotide variant Pathogenic rs193922532 GRCh37 Chromosome 7, 117176683: 117176683
39 CFTR NM_000492.3(CFTR): c.997C> T (p.Leu333Phe) single nucleotide variant Likely pathogenic rs193922533 GRCh37 Chromosome 7, 117180281: 117180281
40 CFTR NM_000492.3(CFTR): c.3067_3072delATAGTG (p.Ile1023_Val1024del) deletion Pathogenic rs121908767 GRCh37 Chromosome 7, 117250651: 117250656
41 CFTR NM_000492.3(CFTR): c.2052delA (p.Lys684Asnfs) deletion Pathogenic rs121908746 GRCh37 Chromosome 7, 117232273: 117232273
42 CFTR NM_000492.3(CFTR): c.489+1G> T single nucleotide variant Pathogenic rs78756941 GRCh37 Chromosome 7, 117171169: 117171169
43 CFTR NM_000492.3(CFTR): c.579+1G> T single nucleotide variant Pathogenic rs77188391 GRCh37 Chromosome 7, 117174420: 117174420
44 CFTR NM_000492.3(CFTR): c.2657+5G> A single nucleotide variant Pathogenic rs80224560 GRCh37 Chromosome 7, 117242922: 117242922
45 CFTR NM_000492.3(CFTR): c.3773dupT (p.Leu1258Phefs) duplication Pathogenic rs121908789 GRCh37 Chromosome 7, 117282547: 117282547
46 CFTR NM_000492.3(CFTR): c.3276C> A (p.Tyr1092Ter) single nucleotide variant Pathogenic rs121908761 GRCh37 Chromosome 7, 117251771: 117251771
47 CFTR NM_000492.3(CFTR): c.178G> T (p.Glu60Ter) single nucleotide variant Pathogenic rs77284892 GRCh37 Chromosome 7, 117149101: 117149101
48 CFTR NM_000492.3(CFTR): c.1645A> C (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121908757 GRCh37 Chromosome 7, 117227853: 117227853
49 CFTR NM_000492.3(CFTR): c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs) indel Pathogenic rs121908779 GRCh37 Chromosome 7, 117232144: 117232152
50 CFTR NM_000492.3(CFTR): c.366T> A (p.Tyr122Ter) single nucleotide variant Pathogenic rs79660178 GRCh37 Chromosome 7, 117171045: 117171045

Copy number variations for Cystic Fibrosis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 218757 7 116907252 117095954 Deletion CFTR Cystic fibrosis
2 218758 7 116907252 117095954 Deletion CFTR Cystic fibrosis
3 233764 8 127300000 131500000 Copy number L1 Cystic fibrosis

Expression for Cystic Fibrosis

LifeMap Discovery
Genes differentially expressed in tissues of Cystic Fibrosis patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ALDOB aldolase B, fructose-bisphosphate Epithelial Cells + 3.08 0.000
Search GEO for disease gene expression data for Cystic Fibrosis.

Pathways for Cystic Fibrosis

Pathways related to Cystic Fibrosis according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

GO Terms for Cystic Fibrosis

Cellular components related to Cystic Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CFTR CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
2 extracellular exosome GO:0070062 9.77 CFTR CLCA4 DEFB1 DNAJC5 DNASE1 ELANE
3 apical plasma membrane GO:0016324 9.63 CFTR CLCA4 SCNN1A SCNN1B SCNN1G SLC9A3R1
4 microvillus GO:0005902 9.58 CLCA1 SLC9A3R1 TGFB1
5 secretory granule GO:0030141 9.56 CLCA1 ELANE STX1A TGFB1
6 sperm midpiece GO:0097225 9.46 DEFB1 SLC9A3R1
7 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G
8 plasma membrane GO:0005886 10.17 CFTR CLCA1 CLCA4 DNAJC5 FCGR2A GUCY2C
9 extracellular region GO:0005576 10.07 CLCA1 CLCA4 CXCL8 DEFB1 DNASE1 ELANE

Biological processes related to Cystic Fibrosis according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.98 DNAJC5 ELANE FCGR2A S100A8 S100A9
2 defense response to bacterium GO:0042742 9.86 DEFB1 ELANE S100A8 S100A9
3 chemotaxis GO:0006935 9.84 CXCL8 DEFB1 S100A8 S100A9
4 ion transmembrane transport GO:0034220 9.8 CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
5 chloride transmembrane transport GO:1902476 9.77 CFTR CLCA1 CLCA4
6 sodium ion transmembrane transport GO:0035725 9.77 SCNN1A SCNN1B SCNN1G
7 chloride transport GO:0006821 9.75 CFTR CLCA1 CLCA4
8 neutrophil chemotaxis GO:0030593 9.72 CXCL8 S100A8 S100A9
9 sensory perception of taste GO:0050909 9.69 SCNN1A SCNN1B SCNN1G
10 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.63 S100A8 S100A9 SLC9A3R1
11 astrocyte development GO:0014002 9.61 S100A8 S100A9
12 nuclear migration GO:0007097 9.57 DCTN4 SLC9A3R1
13 antimicrobial humoral response GO:0019730 9.56 DEFB1 ELANE S100A8 S100A9
14 defense response to fungus GO:0050832 9.54 ELANE S100A8 S100A9
15 peptidyl-cysteine S-nitrosylation GO:0018119 9.52 S100A8 S100A9
16 positive regulation of peptide secretion GO:0002793 9.49 S100A8 S100A9
17 sequestering of zinc ion GO:0032119 9.48 S100A8 S100A9
18 chemokine production GO:0032602 9.43 S100A8 S100A9
19 sodium ion homeostasis GO:0055078 9.33 SCNN1A SCNN1B SCNN1G
20 neutrophil aggregation GO:0070488 9.32 S100A8 S100A9
21 leukocyte migration involved in inflammatory response GO:0002523 9.13 ELANE S100A8 S100A9
22 multicellular organismal water homeostasis GO:0050891 8.92 CFTR SCNN1A SCNN1B SCNN1G

Molecular functions related to Cystic Fibrosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.67 DCTN4 STX1A TGFB1
2 chloride channel activity GO:0005254 9.61 CFTR CLCA1 CLCA4
3 intracellular calcium activated chloride channel activity GO:0005229 9.48 CLCA1 CLCA4
4 RAGE receptor binding GO:0050786 9.46 S100A8 S100A9
5 chloride channel inhibitor activity GO:0019869 9.4 CFTR STX1A
6 chloride channel regulator activity GO:0017081 9.37 CFTR SLC9A3R1
7 ATP-dependent protein binding GO:0043008 9.32 DNAJC5 STX1A
8 arachidonic acid binding GO:0050544 9.26 S100A8 S100A9
9 Toll-like receptor 4 binding GO:0035662 9.16 S100A8 S100A9
10 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
11 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1A SCNN1B SCNN1G

Sources for Cystic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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