CF
MCID: CYS001
MIFTS: 77

Cystic Fibrosis (CF)

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

Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 57 12 73 20 43 58 72 36 29 13 54 6 42 44 15 37 62 39 70 32
Mucoviscidosis 57 12 20 43 58 72
Cf 57 12 20 43 58 72
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 57 6
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 57
Cystic Fibrosis Lung Disease, Modifier of 57
Fibrocystic Disease of Pancreas 43
Cystic Fibrosis of Pancreas 43

Characteristics:

Orphanet epidemiological data:

58
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

31
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare hepatic diseases
Rare infertility disorders
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:1485
OMIM® 57 219700
KEGG 36 H00218
ICD9CM 34 277.0
MeSH 44 D003550
NCIt 50 C2975
SNOMED-CT 67 85809002
MESH via Orphanet 45 D003550
ICD10 via Orphanet 33 E84.0 E84.1 E84.8 more
UMLS via Orphanet 71 C0010674
Orphanet 58 ORPHA586
MedGen 41 C0010674
UMLS 70 C0010674

Summaries for Cystic Fibrosis

MedlinePlus Genetics : 43 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.Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus often damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.

MalaCards based summary : Cystic Fibrosis, also known as mucoviscidosis, is related to bronchiectasis with or without elevated sweat chloride 1 and vas deferens, congenital bilateral aplasia of, and has symptoms including hemoptysis, snoring and coughing. An important gene associated with Cystic Fibrosis is CFTR (CF Transmembrane Conductance Regulator), and among its related pathways/superpathways are ABC transporters and Complement and coagulation cascades. The drugs Ticarcillin and Cefepime have been mentioned in the context of this disorder. Affiliated tissues include Lung, and related phenotypes are recurrent respiratory infections and malabsorption

Disease Ontology : 12 A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.

GARD : 20 Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; p ersistent coughing; f requent lung infections; w heezing or shortness of breath; p oor growth; weight loss; greasy, bulky stools; 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 inheritance is autosomal recessive. Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.

OMIM® : 57 Cystic fibrosis (CF) is classically described as a triad of chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentration in sweat. Almost all males with CF are infertile due to congenital bilateral absence of the vas deferens. The disorder is associated with decreased longevity (summary by Cutting, 2002). 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) (Updated 05-Apr-2021)

MedlinePlus : 42 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

KEGG : 36 Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus.

UniProtKB/Swiss-Prot : 72 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.

PubMed Health : 62 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.

Wikipedia : 73 Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver,... more...

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 1121)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 33.6 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
2 vas deferens, congenital bilateral aplasia of 33.6 LOC113664106 LOC113633877 LOC111674477 LOC111674475 LOC111674472 CFTR-AS1
3 bronchiectasis 33.2 SERPINA1 MBL2 CFTR-AS1 CFTR
4 lung disease 33.2 TGFB1 SERPINA1 S100A8 MBL2 CFTR
5 aspergillosis 32.9 PLG MBL2 CFTR
6 cystic fibrosis and congenital absence of the vas deferens 32.8 TGFB1 FCGR2A CFTR
7 mycobacterium abscessus 32.7 SERPINA1 CFTR
8 bronchitis 32.2 SERPINA1 EPHX1 DNASE1 CFTR
9 pulmonary disease, chronic obstructive 32.1 TGFB1 SERPINA1 EPHX1 CFTR
10 pancreatitis, hereditary 32.0 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
11 idiopathic bronchiectasis 31.7 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
12 disease by infectious agent 31.6 SERPINA1 MBL2 FCGR2A CFTR
13 invasive aspergillosis 31.5 SERPINA1 PLG MBL2
14 alpha-1-antitrypsin deficiency 31.5 SERPINA1 HFE CFTR
15 prss1-related hereditary pancreatitis 31.5 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
16 hemochromatosis, type 1 31.2 SERPINA1 HFE-AS1 HFE CFTR
17 microvascular complications of diabetes 7 31.1 HFE-AS1 HFE
18 iga glomerulonephritis 31.1 TGFB1 SERPINA1 MBL2
19 viral hepatitis 30.7 TGFB1 SERPINA1 HFE
20 laryngitis 30.7 TGFB1 DNASE1
21 anthracosis 30.4 TGFB1 EPHX1
22 facial paralysis 30.2 TGFB1 PLG
23 fibrosis of extraocular muscles, congenital, 1 11.7
24 cystic fibrosis, modifier of, 1 11.5
25 bronchiectasis with or without elevated sweat chloride 2 11.5
26 bronchiectasis with or without elevated sweat chloride 3 11.5
27 meconium ileus 11.4
28 allergic bronchopulmonary aspergillosis 11.4
29 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 11.3
30 lubani-al saleh-teebi syndrome 11.3
31 respiratory failure 11.3
32 exocrine pancreatic insufficiency 11.2
33 pancreatitis 11.2
34 aquagenic syringeal acrokeratoderma 11.2
35 keratomalacia 11.1
36 panbronchiolitis, diffuse 11.1
37 ileus 11.1
38 autosomal recessive disease 11.1
39 shwachman-diamond syndrome 1 11.0
40 young syndrome 11.0
41 nontuberculous mycobacterial lung disease 11.0
42 pseudohypoaldosteronism, type i, autosomal recessive 11.0
43 middle lobe syndrome 11.0
44 hyperchlorhidrosis, isolated 11.0
45 bile acid synthesis defect, congenital, 2 11.0
46 bartter syndrome, type 3 11.0
47 bile acid synthesis defect, congenital, 1 11.0
48 kilquist syndrome 11.0
49 mycobacterium avium complex infections 11.0
50 liver disease 10.9

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



Diseases related to Cystic Fibrosis

Symptoms & Phenotypes for Cystic Fibrosis

Human phenotypes related to Cystic Fibrosis:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
3 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 biliary cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002613
5 exocrine pancreatic insufficiency 58 31 frequent (33%) Very frequent (99-80%) HP:0001738
6 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
7 decreased circulating antibody level 31 hallmark (90%) HP:0004313
8 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
9 dehydration 31 occasional (7.5%) HP:0001944
10 failure to thrive 31 HP:0001508
11 decreased antibody level in blood 58 Very frequent (99-80%)
12 hypercalciuria 31 HP:0002150
13 asthma 31 HP:0002099
14 rectal prolapse 31 HP:0002035
15 recurrent pneumonia 31 HP:0006532
16 bronchiectasis 31 HP:0002110
17 male infertility 31 HP:0003251
18 recurrent bronchopulmonary infections 31 HP:0006538
19 chronic lung disease 31 HP:0006528
20 cor pulmonale 31 HP:0001648
21 elevated sweat chloride 31 HP:0012236
22 meconium ileus 31 HP:0004401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 Gastrointestinal:
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 (Updated 05-Apr-2021)

UMLS symptoms related to Cystic Fibrosis:


hemoptysis; snoring; coughing

Drugs & Therapeutics for Cystic Fibrosis

PubMed Health treatment related to Cystic Fibrosis: 62

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

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

(show top 50) (show all 441)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticarcillin Approved, Investigational, Vet_approved Phase 4 34787-01-4 36921
2
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
3
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5
Azithromycin Approved Phase 4 83905-01-5 447043 55185
6
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
7
Fosfomycin Approved Phase 4 23155-02-4 446987
8
Insulin glargine Approved Phase 4 160337-95-1
9
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
10
Avibactam Approved Phase 4 1192500-31-4
11
Telavancin Approved Phase 4 372151-71-8
12
Ceftolozane Approved, Investigational Phase 4 689293-68-3
13
Tedizolid Approved, Investigational Phase 4 856866-72-3
14
Tedizolid phosphate Approved Phase 4 856867-55-5
15
Atorvastatin Approved Phase 4 134523-00-5 60823
16
Theophylline Approved Phase 4 58-55-9 2153
17
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
18
Tamoxifen Approved Phase 4 10540-29-1 2733526
19
Insulin aspart Approved Phase 4 116094-23-6 16132418
20
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
21
Denosumab Approved Phase 4 615258-40-7
22
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
23
Pancrelipase Approved, Investigational Phase 4 53608-75-6
24
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
25
Ivacaftor Approved Phase 4 873054-44-5 16220172
26
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
27
Tazobactam Approved Phase 4 89786-04-9 123630
28
Piperacillin Approved Phase 4 66258-76-2 43672
29
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
30
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
31
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
32
Ceftazidime Approved Phase 4 78439-06-2, 72558-82-8 5481173
33
Mycophenolic acid Approved Phase 4 24280-93-1 446541
34
Omalizumab Approved, Investigational Phase 4 242138-07-4
35
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
36
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
37
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
38
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
39
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
40
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
41
Xenon Experimental Phase 4 7440-63-3
42 Ticarcillin-clavulanic acid Phase 4
43 Clavulanic Acids Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Analgesics Phase 4
46 Antirheumatic Agents Phase 4
47 Anti-Inflammatory Agents Phase 4
48 Anti-Inflammatory Agents, Non-Steroidal Phase 4
49 Anticholesteremic Agents Phase 4
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 1318)
# Name Status NCT ID Phase Drugs
1 Effect of Azithromycin on Lipoproteins and Docosahexaenoic Acid in Patients With Cystic Fibrosis Unknown status NCT03045198 Phase 4 Azithromycin
2 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
3 A Pilot Trial of Intravenous Iron for the Treatment of Iron Deficiency in Adult Patients With Cystic Fibrosis Unknown status NCT03632525 Phase 4 Ferric carboxymaltose
4 What Duration of Intravenous Antibiotic Therapy Should be Used in the Treatment of Infective Exacerbations of Cystic Fibrosis Chronically Colonised With Pseudomonas Aeruginosa Unknown status NCT01044719 Phase 4 Ceftazidime;Tobramycin;Meropenem
5 Airway Infection, Inflammatory Markers and Exercise Capacity in Patients With Cystic Fibrosis and at Least One G551D Mutation Taking VX770 (Ivacaftor) Unknown status NCT01937325 Phase 4 ivacaftor;placebo
6 Continuous-infusion Anti-pseudomonal β-lactams for the Treatment of Acute, Infective Pulmonary Exacerbations in Cystic Fibrosis Unknown status NCT01667094 Phase 4 Intermittent, short infusion Ceftazidime;Continuous infusion Ceftazidime;Intermittent, short infusion Meropenem;Continuous infusion Meropenem;Intermittent, short infusion Ticarcillin-clavulanate;Continuous infusion Ticarcillin-clavulanate;Intermittent, short infusion Cefepime;Continuous infusion Cefepime;Continuous infusion Piperacillin tazobactam;Intermittent, short infusion Piperacillin tazobactam
7 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
8 Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis: a Double-blind Randomised Controlled Trial Unknown status NCT02507843 Phase 4 Cholecalciferol;Placebo
9 A Multicenter, Randomized, Open, Parallel Controlled Clinical Study on the Efficacy and Safety of the Treatment of Cyclomastopathy With Xiaoru Sanjie Capsule Unknown status NCT02929420 Phase 4 Xiaoru Sanjie capsules;Xiao Yao pills
10 Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination in Patients With Cystic Fibrosis and, Where Applicable, the Clinical Expression of Influenza A (H1N1) Completed NCT01499914 Phase 4
11 An Open-Label Study Evaluating the Efficacy and Safety of Liprotamase in Subjects With Exocrine Pancreatic Insufficiency Due to Cystic Fibrosis Completed NCT02823964 Phase 4 Liprotamase
12 RhDNase Effect on Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
13 Phase 4 Study of the Efficacy of Long-term Treatment With Hypertonic Saline on Pulmonary Exacerbations in Patients With Cystic Fibrosis Completed NCT01377792 Phase 4 Hypertonic saline
14 Tobramycin 300 mg o.d. Aerosol in in Adult Patients With Cystic Fibrosis: Pilot Study on Antimicrobial Activity Completed NCT01608555 Phase 4 tobramycin
15 Lactobacillus Reuteri Reduces Pulmonary Exacerbations and Upper Respiratory Tract Infections in CF Patients With Mild-to-moderate Lung Disease. LR Administration Might Have a Beneficial Effect on the Disease Course of Cystic Fibrosis. Completed NCT01737983 Phase 4
16 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis (CRITIC) A Randomized Pharmacokinetic Comparison of Tobramycin in Cystic Fibrosis Completed NCT01207245 Phase 4
17 An Open Label Study to Investigate the Role of Ivacaftor for the Treatment of Cystic Fibrosis in Combination With Ataluren (PTC124) in Cystic Fibrosis Patients Using Ataluren for Nonsense Mutations Completed NCT03256799 Phase 4 Ivacaftor/Ataluren
18 Comparison of the Airway Clearance Efficacy of Electro Flo 5000 and Vest Therapy in Completed NCT02277626 Phase 4
19 Cystic Fibrosis and Totally Implantable Vascular Access Devices: Evaluation of the Incidence of Venous Thrombosis Related to the Catheter and Study of the Genetic and Acquired Risk Factors Completed NCT00244270 Phase 4
20 An Open-label, Crossover, Interventional Phase IV Study to Compare the Ease of Use of TIP With Nebulized TIS and Nebulized COLI for the Treatment of Pulmonary Pseudomonas Aeruginosa (P.a) in Patients With Cystic Fibrosis Completed NCT01844778 Phase 4 Tobramycin Inhalation Powder;Tobramycin inhalation solution;Colistimethate
21 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
22 Multi-center, Multi-national, Randomized, Placebo-Controlled Trial of Azithromycin in Subjects With Cystic Fibrosis 6-18 Years Old, Culture Negative for Pseudomonas Aeruginosa Completed NCT00431964 Phase 4 azithromycin 250 mg tablets;placebo tablets
23 A Multicentre, Double-Blind, Randomized Placebo-Controlled Study of 70mg Alendronate Once Weekly for the Prevention and Treatment of Osteoporosis in Canadian Adult Cystic Fibrosis Patients Completed NCT00157690 Phase 4 Alendronate;Placebo
24 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in CF Completed NCT02504827 Phase 4 Ceftazidime/avibactam
25 Vehicles for the Absorption of Vitamin D in Cystic Fibrosis: Comparison of Powder vs Oil Completed NCT01880346 Phase 4
26 Standardized Treatment of Pulmonary Exacerbations II (STOP2) Completed NCT02781610 Phase 4 Standard of care IV antibiotic(s)
27 Supplementary Oral Azithromycin in Treatment of Intermittent Pseudomonas Aeruginosa Colonization in CF-patients With Inhaled Colistin and Oral Ciprofloxacin; Postponing Next Isolate of Pseudomonas and Prevention of Chronic Infection. A Prospective, Double-blinded, Placebo-controlled Scandinavian Multi-centre Study. Completed NCT00411736 Phase 4 Study medication, azithromycin or placebo;Azithromycin or placebo tablets
28 A Multicenter, Open-Label, Safety Extension of Study PR-011 Titled: A Multicenter, Randomized, Open-Label, Crossover Study to Evaluate the Mode of Administration and Safety of EUR-1008 in Infants 1 to 12 Months of Age With Exocrine Pancreatic Insufficiency (EPI) Associated With Cystic Fibrosis (CF) Completed NCT01131507 Phase 4 EUR-1008 (APT-1008)
29 Pharmacokinetics and Tolerability of Telavancin at Differing Dosing Regimens in Cystic Fibrosis Adults Admitted With Acute Pulmonary Exacerbations Completed NCT03172793 Phase 4 Telavancin Injection
30 A Multicenter, Randomized, Open-Label, Crossover Study to Evaluate the Mode of Administration and Safety of EUR-1008 in Infants 1 to 12 Months of Age With Exocrine Pancreatic Insufficiency (EPI) Associated With Cystic Fibrosis (CF) Completed NCT01100606 Phase 4 EUR-1008 (APT-1008);EUR-1008 (APT-1008)
31 MALABSORPTION BLOOD TEST: Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
32 Randomized, Placebo-controlled Trial on the Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
33 Prospective Randomized Trial Comparing Oral Ciproxin Plus Inhaled Colistin With Tobramycin for Inhalation for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis. Completed NCT01400750 Phase 4 oral ciprofloxacin plus inhaled colistin;TOBI
34 TEACH Trial: Testing the Effect of Adding CHronic Azithromycin to Inhaled Tobramycin. A Randomized, Placebo-controlled, Double-blinded Trial of Azithromycin 500mg Thrice Weekly in Combination With Inhaled Tobramycin Completed NCT02677701 Phase 4 azithromycin;placebo (for azithromycin);inhaled tobramycin
35 Comparison of Sine Waveform High Frequency Chest Wall Oscillation Using Different Settings in Cystic Fibrosis Completed NCT00685035 Phase 4
36 A Randomized, Controlled Study of Combined Administration of Nebulized Amikacin in Patients With Acute Exacerbation of Non-Cystic Fibrosis Bronchiectasis Completed NCT02081963 Phase 4 Amikacin;Normal saline
37 Effect of Doxycycline on Sputum Biomarkers of Inflammation and Lung Epithelial Repair in Patients With Cystic Fibrosis. Completed NCT01323101 Phase 4 Doxycycline
38 A Prospective, Multicenter, Open-Label Study to Assess Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Admitted With Acute Pulmonary Exacerbation Completed NCT02421120 Phase 4 Ceftolozane/Tazobactam
39 A Multicenter, Human Factors Validation Study in Cystic Fibrosis Patients Aged 6 Years and Older to Evaluate the User Interface of TOBI® Podhaler™ (Tobramycin Inhalation Powder) Using Placebo Capsules Completed NCT03502070 Phase 4 Placebo
40 An Open Label N of 1 Study to Evaluate the Study and Efficacy of Long-Term Treatment With Ivacaftor in Combination With Ataluren (PTC124) in Subjects With Nonsense Mutation Cystic Fibrosis Completed NCT03256968 Phase 4 Ataluren
41 Aztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis. An Randomised, Crossover Pilot Study of AZLI Plus Intravenous Colistin® Versus Standard Dual Intravenous Therapy Completed NCT02894684 Phase 4 Aztreonam;Standard Care
42 A Phase 4, Randomized, Double-Blind, Placebo-Controlled, Parallel-Design Study of the Effect of Lumacaftor/Ivacaftor Combination Therapy on Exercise Tolerance in Subjects Aged 12 Years and Older With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Completed NCT02875366 Phase 4 LUM/IVA;Placebo
43 Impact of Backpack Position on Lung Function and Oxygen Consumption in School-aged Children With Cystic Fibrosis Completed NCT02700282 Phase 4
44 A Comparison of Five Airway Clearance Techniques in the Treatment of Adults With Cystic Fibrosis Completed NCT00890370 Phase 4
45 Steady-State Pharmacokinetics of Tedizolid in Plasma and Sputum of Patients With Cystic Fibrosis Completed NCT02444234 Phase 4 Tedizolid PO;Tedizolid IV
46 An Open Label Study to Assess the Population Pharmacokinetics, Safety, and Practicality of Administering Meropenem as a Prolonged Infusion to Cystic Fibrosis Children Admitted With an Acute Pulmonary Exacerbation Completed NCT01429259 Phase 4 meropenem
47 A Phase IV Multicenter, Randomized, Open Label, Two-Period, Crossover Study in Patients With Cystic Fibrosis to Evaluate the Comparable Efficacy and Safety of Pulmozyme Delivered by the eRapid Nebulizer System Completed NCT01712334 Phase 4 dornase alfa [Pulmozyme®];dornase alfa [Pulmozyme®]
48 A Multi-center, Human Factors Engineering (HFE) Usability Study in Cystic Fibrosis Patients to Validate the Approved Instructions for Use (IFU) of TOBI® Podhaler™ (Tobramycin Inhalation Powder) Using Placebo Capsules Completed NCT02178540 Phase 4 Placebo
49 Treatment of Aspergillus Fumigatus in Patients With Cystic Fibrosis: A Randomized, Double-blind, Placebo-Controlled Trial Completed NCT00528190 Phase 4 Itraconazole
50 A 48 Week Extension to CTBM100C2401, a Single Arm, Open-label, Multicenter, Phase IV Extension Trial to Assess Long Term Safety of Tobramycin Inhalation Powder (TIP) in Patients With Cystic Fibrosis Who Completed Participation in CTBM100C2401. Completed NCT01775137 Phase 4 TBM100

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Acetylcysteine
Amiloride
Amiloride Hydrochloride
Dornase Alfa
Medium chain triglycerides
Sodium phenylbutyrate

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 29 CFTR FCGR2A TGFB1

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

40
Lung, Pancreas, Liver, Bone, Neutrophil, Heart, Skin
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 Submucosal Glands Affected by disease
2 Lung Respiratory Bronchioles Basal Cells Potential therapeutic candidate
3 Lung Respiratory Bronchioles Cilliated Cells Affected by disease, potential therapeutic candidate

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

(show top 50) (show all 31937)
# Title Authors PMID Year
1
Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 57 6 61 54
12167682 2002
2
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. 61 6 57 54
10449435 1999
3
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele. 6 61 57
31697873 2019
4
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 57 6 61
25981758 2015
5
Drug bests cystic-fibrosis mutation. 61 6 57
22318583 2012
6
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. 6 57 61
18685558 2009
7
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. 61 57 6
18424453 2008
8
Complex two-gene modulation of lung disease severity in children with cystic fibrosis. 61 6 57
18292811 2008
9
ENaCbeta and gamma genes as modifier genes in cystic fibrosis. 6 57 61
17560176 2008
10
Genetic modifiers of lung disease in cystic fibrosis. 61 57 6
16207846 2005
11
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. 61 6 57
15948195 2005
12
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. 57 6 61
15367919 2005
13
A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. 61 6 57
12503104 2003
14
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. 61 57 6
12215837 2002
15
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. 6 57 61
12070257 2002
16
Is the spectrum of mutations in Indian patients with cystic fibrosis different? 61 57 6
10869121 2000
17
Cystic fibrosis carrier frequencies in populations of African origin. 61 6 57
9950364 1999
18
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. 61 57 6
9725922 1998
19
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. 57 6 61
9683582 1998
20
The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies. 61 6 57
9550361 1998
21
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. 61 57 6
9150159 1997
22
The diagnosis of cystic fibrosis. 61 6 57
9017943 1997
23
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. 57 6 61
9003498 1997
24
Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. 57 6 61
7680769 1993
25
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. 61 6 57
1384328 1992
26
Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. 6 57 61
1518030 1992
27
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. 6 61 57
1379210 1992
28
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. 57 6 61
1376017 1992
29
Genetic determination of exocrine pancreatic function in cystic fibrosis. 61 57 6
1376016 1992
30
Detection of over 98% cystic fibrosis mutations in a Celtic population. 61 57 6
1284639 1992
31
A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. 6 57 61
1284468 1992
32
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. 61 57 6
1715308 1991
33
Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. 57 6 61
1709778 1991
34
Association of less common cystic fibrosis mutations with a mild phenotype. 6 57 61
1999830 1991
35
Identification of the cystic fibrosis gene: genetic analysis. 6 57 61
2570460 1989
36
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 6 57
22975760 2013
37
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 57 6
22981120 2012
38
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy. 57 6
21184098 2011
39
Could a defective epithelial sodium channel lead to bronchiectasis. 57 6
18507830 2008
40
Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation. 57 6
10970190 2000
41
A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. 6 57
10777364 2000
42
Double mutant alleles: are they rare? 57 6
8528204 1995
43
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. 57 6
7691345 1993
44
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). 57 6
2210767 1990
45
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. 6 61 54
20068595 2010
46
Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations. 6 61 54
19710401 2009
47
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 6 54 61
17413420 2007
48
Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. 57 61 54
17158822 2007
49
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? 61 54 6
17015492 2006
50
A large deletion in the CFTR gene in CBAVD. 61 6 54
16481891 2006

Variations for Cystic Fibrosis

ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 2188)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFTR , LOC111674475 NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile) SNV Pathogenic 7117 rs121908755 GRCh37: 7:117227854-117227854
GRCh38: 7:117587800-117587800
2 CFTR NP_000483.3:p.Ser549Arg protein only Pathogenic 375610 GRCh37:
GRCh38:
3 CFTR NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) SNV Pathogenic 7128 rs121909008 GRCh37: 7:117243666-117243666
GRCh38: 7:117603612-117603612
4 CFTR NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) SNV Pathogenic 7133 rs121909010 GRCh37: 7:117292969-117292969
GRCh38: 7:117652915-117652915
5 CFTR NM_000492.3(CFTR):c.424del (p.Ile142fs) Deletion Pathogenic 7146 rs387906363 GRCh37: 7:117171103-117171103
GRCh38: 7:117531049-117531049
6 CFTR NM_000492.3(CFTR):c.1093_1094delCT Microsatellite Pathogenic 7154 rs387906365 GRCh37: 7:117180373-117180374
GRCh38: 7:117540319-117540320
7 CFTR NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) SNV Pathogenic 7157 rs121909018 GRCh37: 7:117232700-117232700
GRCh38: 7:117592646-117592646
8 CFTR , LOC111674472 NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs) Duplication Pathogenic 7161 rs387906366 GRCh37: 7:117251678-117251679
GRCh38: 7:117611624-117611625
9 CFTR NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met) SNV Pathogenic 7167 rs77902683 GRCh37: 7:117282622-117282622
GRCh38: 7:117642568-117642568
10 CFTR NM_000492.3(CFTR):c.744-14_744-3del Deletion Pathogenic 7170 rs387906367 GRCh37: 7:117176588-117176599
GRCh38: 7:117536534-117536545
11 CFTR NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) SNV Pathogenic 7174 rs121909023 GRCh37: 7:117232367-117232367
GRCh38: 7:117592313-117592313
12 CFTR NM_000492.3(CFTR):c.271G>A (p.Gly91Arg) SNV Pathogenic 7183 rs121908750 GRCh37: 7:117149194-117149194
GRCh38: 7:117509140-117509140
13 CFTR NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) SNV Pathogenic 7184 rs121909028 GRCh37: 7:117282631-117282631
GRCh38: 7:117642577-117642577
14 CFTR NM_000492.3(CFTR):c.459_476del (p.Ala155_Ile160del) Deletion Pathogenic 7188 rs387906371 GRCh37: 7:117171138-117171155
GRCh38: 7:117531084-117531101
15 CFTR CFTR, GLN524HIS SNV Pathogenic 7191 GRCh37:
GRCh38:
16 CFTR NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) SNV Pathogenic 7197 rs121909031 GRCh37: 7:117171005-117171005
GRCh38: 7:117530951-117530951
17 CFTR NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) SNV Pathogenic 7202 rs121909033 GRCh37: 7:117232164-117232164
GRCh38: 7:117592110-117592110
18 CFTR NM_000492.3(CFTR):c.805_806delAT Microsatellite Pathogenic 7206 rs121908773 GRCh37: 7:117176661-117176662
GRCh38: 7:117536607-117536608
19 CFTR NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) SNV Pathogenic 7207 rs121909035 GRCh37: 7:117243773-117243773
GRCh38: 7:117603719-117603719
20 CFTR , LOC111674472 NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro) SNV Pathogenic 7209 rs121909037 GRCh37: 7:117251707-117251707
GRCh38: 7:117611653-117611653
21 CFTR NM_000492.3(CFTR):c.1083del (p.Trp361fs) Deletion Pathogenic 7213 rs387906375 GRCh37: 7:117180366-117180366
GRCh38: 7:117540312-117540312
22 CFTR NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) SNV Pathogenic 7218 rs121909042 GRCh37: 7:117292929-117292929
GRCh38: 7:117652875-117652875
23 CFTR NM_000492.3(CFTR):c.2291del (p.Arg764fs) Deletion Pathogenic 7220 rs387906376 GRCh37: 7:117232512-117232512
GRCh38: 7:117592458-117592458
24 CFTR , LOC111674472 NM_000492.3(CFTR):c.3161del (p.His1054fs) Deletion Pathogenic 7221 rs387906377 GRCh37: 7:117251656-117251656
GRCh38: 7:117611602-117611602
25 CFTR , LOC111674463 NM_000492.3(CFTR):c.-102= SNV Pathogenic 7226 GRCh37: 7:117120047-117120047
GRCh38: 7:117479993-117479993
26 CFTR and overlap with 2 gene(s) NG_016465.3:g.(37526_37529)_(58606_58609) Deletion Pathogenic 7227 GRCh37: 7:117138363-117159446
GRCh38: 7:117498309-117519392
27 CFTR NM_000492.3(CFTR):c.3492dup (p.Lys1165Ter) Duplication Pathogenic 7230 rs387906379 GRCh37: 7:117267596-117267597
GRCh38: 7:117627542-117627543
28 CFTR A445E Variation Pathogenic 7234 GRCh37:
GRCh38:
29 CFTR NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) SNV Pathogenic 7235 rs121909045 GRCh37: 7:117120167-117120167
GRCh38: 7:117480113-117480113
30 CFTR NM_000492.3(CFTR):c.860dup (p.Asn287fs) Duplication Pathogenic 7236 rs387906380 GRCh37: 7:117176714-117176715
GRCh38: 7:117536660-117536661
31 CFTR , LOC111674475 NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) SNV Pathogenic 35829 rs193922504 GRCh37: 7:117227881-117227881
GRCh38: 7:117587827-117587827
32 CFTR NM_000492.3(CFTR):c.1692del (p.Asp565fs) Deletion Pathogenic 35831 rs193922505 GRCh37: 7:117230417-117230417
GRCh38: 7:117590363-117590363
33 CFTR NM_000492.3(CFTR):c.1911del (p.Gln637fs) Deletion Pathogenic 35834 rs1554389296 GRCh37: 7:117232132-117232132
GRCh38: 7:117592078-117592078
34 CFTR NM_000492.3(CFTR):c.3691del (p.Ser1231fs) Deletion Pathogenic 35871 rs77035409 GRCh37: 7:117267796-117267796
GRCh38: 7:117627742-117627742
35 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) SNV Pathogenic 53282 rs397508227 GRCh37: 7:117199698-117199698
GRCh38: 7:117559644-117559644
36 CFTR , LOC111674475 NM_000492.3(CFTR):c.1648G>T (p.Gly550Ter) SNV Pathogenic 53312 rs397508247 GRCh37: 7:117227856-117227856
GRCh38: 7:117587802-117587802
37 CFTR , LOC113664106 NM_000492.3(CFTR):c.170G>A (p.Trp57Ter) SNV Pathogenic 53355 rs397508279 GRCh37: 7:117149093-117149093
GRCh38: 7:117509039-117509039
38 CFTR NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) SNV Pathogenic 53434 rs397508336 GRCh37: 7:117232274-117232274
GRCh38: 7:117592220-117592220
39 CFTR NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) SNV Pathogenic 53509 rs397508394 GRCh37: 7:117235040-117235040
GRCh38: 7:117594986-117594986
40 CFTR NM_000492.3(CFTR):c.2825del (p.Ile942fs) Deletion Pathogenic 53574 rs397508441 GRCh37: 7:117243753-117243753
GRCh38: 7:117603699-117603699
41 CFTR NM_000492.3(CFTR):c.2896del (p.Thr966fs) Deletion Pathogenic 53587 rs397508451 GRCh37: 7:117243824-117243824
GRCh38: 7:117603770-117603770
42 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1393-2A>G SNV Pathogenic 53243 rs397508201 GRCh37: 7:117199516-117199516
GRCh38: 7:117559462-117559462
43 CFTR NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) SNV Pathogenic 53266 rs397508217 GRCh37: 7:117144401-117144401
GRCh38: 7:117504347-117504347
44 CFTR NM_000492.3(CFTR):c.310del (p.Arg104fs) Deletion Pathogenic 53653 rs397508499 GRCh37: 7:117170988-117170988
GRCh38: 7:117530934-117530934
45 CFTR NM_000492.3(CFTR):c.3908del (p.Asn1303fs) Deletion Pathogenic 53847 rs397508637 GRCh37: 7:117292925-117292925
GRCh38: 7:117652871-117652871
46 CFTR NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) SNV Pathogenic 54064 rs397508799 GRCh37: 7:117176686-117176686
GRCh38: 7:117536632-117536632
47 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1397C>A (p.Ser466Ter) SNV Pathogenic 53244 rs121908805 GRCh37: 7:117199522-117199522
GRCh38: 7:117559468-117559468
48 CFTR NP_000483.3(CFTR):p.Tyr1092Ter protein only Pathogenic 375475 GRCh37:
GRCh38:
49 CFTR NM_000492.3(CFTR):c.3963+1G>A SNV Pathogenic 161996 rs672601314 GRCh37: 7:117292986-117292986
GRCh38: 7:117652932-117652932
50 CFTR NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) SNV Pathogenic 161997 rs672601315 GRCh37: 7:117243628-117243628
GRCh38: 7:117603574-117603574

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

72 (show top 50) (show all 127)
# 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.Trp57Gly VAR_000108 rs397508272
5 CFTR p.Pro67Leu VAR_000109 rs368505753
6 CFTR p.Arg74Trp VAR_000110 rs115545701
7 CFTR p.Gly85Glu VAR_000112 rs75961395
8 CFTR p.Phe87Leu VAR_000113 rs397508403
9 CFTR p.Gly91Arg VAR_000114 rs121908750
10 CFTR p.Glu92Lys VAR_000115 rs121908751
11 CFTR p.Gln98Arg VAR_000116 rs397508464
12 CFTR p.Ile105Ser VAR_000117
13 CFTR p.Tyr109Cys VAR_000118 rs121909031
14 CFTR p.Arg117Cys VAR_000121 rs77834169
15 CFTR p.Arg117His VAR_000122 rs78655421
16 CFTR p.Arg117Leu VAR_000123 rs78655421
17 CFTR p.Arg117Pro VAR_000124 rs78655421
18 CFTR p.Ala120Thr VAR_000125 rs201958172
19 CFTR p.His139Arg VAR_000126 rs76371115
20 CFTR p.Ala141Asp VAR_000127 rs397508700
21 CFTR p.Gly178Arg VAR_000130 rs80282562
22 CFTR p.Glu193Lys VAR_000132 rs397508759
23 CFTR p.His199Gln VAR_000133 rs397508765
24 CFTR p.His199Tyr VAR_000134 rs121908802
25 CFTR p.Pro205Ser VAR_000135 rs121908803
26 CFTR p.Leu206Trp VAR_000136 rs121908752
27 CFTR p.Asn287Tyr VAR_000140 rs397508804
28 CFTR p.Arg297Gln VAR_000141 rs143486492
29 CFTR p.Ser307Asn VAR_000143 rs397508817
30 CFTR p.Phe311Leu VAR_000144 rs121909016
31 CFTR p.Gly314Glu VAR_000146 rs75763344
32 CFTR p.Gly314Arg VAR_000147 rs397508819
33 CFTR p.Arg334Trp VAR_000148 rs121909011
34 CFTR p.Ile336Lys VAR_000150 rs397508139
35 CFTR p.Thr338Ile VAR_000151 rs77409459
36 CFTR p.Leu346Pro VAR_000152 rs397508146
37 CFTR p.Arg347His VAR_000153 rs77932196
38 CFTR p.Arg347Leu VAR_000154 rs77932196
39 CFTR p.Arg347Pro VAR_000155 rs77932196
40 CFTR p.Arg352Gln VAR_000156 rs121908753
41 CFTR p.Gln359Lys VAR_000157 rs76879328
42 CFTR p.Ala455Glu VAR_000160 rs74551128
43 CFTR p.Val456Phe VAR_000161 rs397508195
44 CFTR p.Gly458Val VAR_000162 rs121909009
45 CFTR p.Gly480Cys VAR_000165 rs79282516
46 CFTR p.Ser492Phe VAR_000166 rs121909017
47 CFTR p.Glu504Gln VAR_000167 rs397508223
48 CFTR p.Val520Phe VAR_000174 rs77646904
49 CFTR p.Ser549Asn VAR_000176 rs121908755
50 CFTR p.Ser549Ile VAR_000177 rs121908755

Copy number variations for Cystic Fibrosis from CNVD:

7
# CNVD ID Chromosome 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 CYRIB 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, fructose-bisphosphate B 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

Pathways related to Cystic Fibrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 SERPINA1 PLG MBL2
2 11.26 TGFB1 SERPINA1 CFTR
3 10.78 PLG MBL2 FCGR2A

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 platelet alpha granule lumen GO:0031093 9.13 TGFB1 SERPINA1 PLG
2 collagen-containing extracellular matrix GO:0062023 9.02 TGFB1 SERPINA1 S100A8 PLG MBL2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of exocytosis GO:0045921 9.16 STX1A CFTR
2 platelet degranulation GO:0002576 9.13 TGFB1 SERPINA1 PLG
3 acute-phase response GO:0006953 8.8 SERPINA1 MBL2 HFE

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

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.33 TGFB1 STX1A DCTN4
2 calcium-dependent protein binding GO:0048306 9.13 STX1A S100A8 MBL2
3 chloride channel inhibitor activity GO:0019869 8.62 STX1A CFTR

Sources for Cystic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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