CF
MCID: CYS001
MIFTS: 78

Cystic Fibrosis (CF)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 57 11 24 19 42 58 75 73 28 12 53 5 41 43 14 36 63 38 71 31 33
Mucoviscidosis 57 11 19 42 58 73 33
Cf 57 11 19 42 58 73
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 57 5
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 57
Cystic Fibrosis Lung Disease, Modifier of 57
Nonproliferative Fibrocystic Disease 33
Fibrocystic Disease of the Pancreas 33
Fibrocystic Disease of Pancreas 42
Cystic Fibrosis of Pancreas 42
Mucoviscidosis of Pancreas 33
Pancreatic Cystic Fibrosis 33
Cf - [cystic Fibrosis] 33
Cystic Fibrosis Nos 33
Fibrocystic Disease 33

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-5/10000 (Europe, Europe, Austria, Belgium, Belgium, Bulgaria, Cyprus, Czech Republic, Denmark, Estonia, France, France, Germany, Germany, Greece, Ireland, Ireland, Italy, Italy, Netherlands, Norway, Poland, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, Sweden, United Kingdom, United Kingdom, Brazil) 1-9/100000 (Austria, Bulgaria, Cyprus, Czech Republic, Denmark, Estonia, Finland, Finland, Greece, Hungary, Latvia, Lithuania, Luxembourg, Malta, Netherlands, Norway, Portugal, Romania, Russian Federation, Russian Federation, Slovakia, Slovenia, Spain) 1-9/1000000 (China) 58

Age Of Onset:

All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
delta-f508 present in 70% of alleles


Classifications:

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


Summaries for Cystic Fibrosis

MedlinePlus Genetics: 42 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 lung disease, 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 Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Lung fibrosis. The drugs Cefepime and Ceftolozane have been mentioned in the context of this disorder. Affiliated tissues include Lung, and related phenotypes are recurrent respiratory infections and malabsorption

MedlinePlus: 41 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

GARD: 19 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; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor 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 genetic changes in the CFTR gene and inheritance is autosomal recessive.

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 08-Dec-2022)

PubMed Health : 63 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.

Disease Ontology: 11 A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.

Wikipedia: 75 Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas,... more...

GeneReviews: NBK1250

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 1444)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 33.5 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
2 lung disease 33.3 TGFB1 SERPINA1 S100A8 MBL2 HMOX1 CFTR
3 vas deferens, congenital bilateral aplasia of 33.2 SLC9A3 LOC111674472 CFTR
4 bronchiectasis 33.2 SERPINA1 MBL2 CFTR
5 ileus 32.6 SLC9A3 SLC6A14 SLC26A9 CFTR
6 pancreatitis, hereditary 32.5 LOC113664106 LOC113633877 LOC111674477 LOC111674475 LOC111674472 CFTR-AS1
7 pulmonary disease, chronic obstructive 32.2 TGFB1 SERPINA1 HMOX1 CFTR
8 asthma 32.2 TGFB1 SERPINA1 S100A8 MBL2 HMOX1 CFTR
9 bronchitis 32.2 SERPINA1 DNASE1 CFTR
10 prss1-related hereditary pancreatitis 32.1 LOC113664106 LOC113633877 LOC111674477 LOC111674475 LOC111674472 CFTR-AS1
11 diabetes mellitus 32.1 TGFB1 SLC9A3 SERPINA1 MBL2 HMOX1 HFE
12 diarrhea 32.0 TGFB1 SLC9A3 SERPINA1 CFTR
13 pneumonia 32.0 SERPINA1 MBL2 HMOX1 CFTR
14 alpha-1-antitrypsin deficiency 31.6 SERPINA1 HFE CFTR
15 interstitial lung disease 2 31.4 TGFB1 SERPINA1 HMOX1 CFTR
16 hemochromatosis, type 1 31.3 SERPINA1 HMOX1 HFE CFTR
17 iga glomerulonephritis 31.1 TGFB1 SERPINA1 MBL2
18 secretory diarrhea 30.9 SLC9A3 CFTR
19 bilirubin metabolic disorder 30.9 SERPINA1 HMOX1 CFTR
20 pneumoconiosis 30.8 TGFB1 SERPINA1 MBL2
21 acute diarrhea 30.5 STX1A SLC9A3
22 meningococcal infection 30.4 MBL2 FCGR2A
23 lubani-al saleh-teebi syndrome 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 11.5
28 aspergillosis 11.4
29 allergic bronchopulmonary aspergillosis 11.4
30 respiratory failure 11.4
31 proliferative type fibrocystic change of breast 11.4
32 aquagenic syringeal acrokeratoderma 11.3
33 microglandular adenosis 11.3
34 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 11.3
35 exocrine pancreatic insufficiency 11.2
36 pancreatitis 11.2
37 keratomalacia 11.2
38 liver fibrocystic disease and polydactyly 11.1
39 shwachman-diamond syndrome 1 11.0
40 nontuberculous mycobacterial lung disease 11.0
41 orofaciodigital syndrome i 11.0
42 young syndrome 11.0
43 pseudohypoaldosteronism, type ib1, autosomal recessive 11.0
44 middle lobe syndrome 11.0
45 non-proliferative fibrocystic change of the breast 11.0
46 hyperchlorhidrosis, isolated 11.0
47 masp2 deficiency 11.0
48 kilquist syndrome 11.0
49 pseudohypoaldosteronism, type ib2, autosomal recessive 11.0
50 pseudohypoaldosteronism, type ib3, autosomal recessive 11.0

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 30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002205
2 malabsorption 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002024
3 exocrine pancreatic insufficiency 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001738
4 immunodeficiency 30 Hallmark (90%) HP:0002721
5 biliary cirrhosis 30 Hallmark (90%) HP:0002613
6 pulmonary fibrosis 30 Hallmark (90%) HP:0002206
7 decreased circulating antibody level 30 Hallmark (90%) HP:0004313
8 hepatomegaly 30 Occasional (7.5%) HP:0002240
9 dehydration 30 Occasional (7.5%) HP:0001944
10 failure to thrive 58 30 Very rare (1%) Frequent (79-30%)
HP:0001508
11 cirrhosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001394
12 bronchiectasis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002110
13 elevated sweat chloride 58 30 Very rare (1%) Very frequent (99-80%)
HP:0012236
14 steatorrhea 58 30 Very rare (1%) Occasional (29-5%)
HP:0002570
15 reduced forced expiratory volume in one second 58 30 Very rare (1%) Occasional (29-5%)
HP:0032342
16 hemoptysis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002105
17 nasal polyposis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100582
18 recurrent pneumonia 30 Very rare (1%) HP:0006532
19 cor pulmonale 30 Very rare (1%) HP:0001648
20 diarrhea 30 Very rare (1%) HP:0002014
21 hepatosplenomegaly 30 Very rare (1%) HP:0001433
22 pancreatitis 30 Very rare (1%) HP:0001733
23 ileus 30 Very rare (1%) HP:0002595
24 chronic sinusitis 30 Very rare (1%) HP:0011109
25 clubbing of fingers 30 Very rare (1%) HP:0100759
26 reduced forced vital capacity 30 Very rare (1%) HP:0032341
27 decreased forced expiratory flow 25-75% 30 Very rare (1%) HP:0032359
28 rectal prolapse 58 30 Occasional (29-5%)
HP:0002035
29 asthma 58 30 Occasional (29-5%)
HP:0002099
30 meconium ileus 58 30 Occasional (29-5%)
HP:0004401
31 depression 58 Occasional (29-5%)
32 osteopenia 58 Occasional (29-5%)
33 hearing impairment 58 Very rare (<4-1%)
34 gastroesophageal reflux 58 Occasional (29-5%)
35 sinusitis 58 Occasional (29-5%)
36 osteoporosis 58 Very rare (<4-1%)
37 anxiety 58 Occasional (29-5%)
38 elevated hepatic transaminase 58 Occasional (29-5%)
39 airway obstruction 58 Very frequent (99-80%)
40 absent vas deferens 58 Very frequent (99-80%)
41 abnormality of the liver 58 Occasional (29-5%)
42 recurrent aspergillus infections 58 Occasional (29-5%)
43 recurrent staphylococcus aureus infections 58 Occasional (29-5%)
44 recurrent haemophilus influenzae infections 58 Occasional (29-5%)
45 decreased body mass index 58 Occasional (29-5%)
46 nephrolithiasis 58 Very rare (<4-1%)
47 pneumothorax 58 Very rare (<4-1%)
48 recurrent burkholderia cepacia infections 58 Very rare (<4-1%)
49 nontuberculous mycobacterial pulmonary infection 58 Very rare (<4-1%)
50 hypercalciuria 30 HP:0002150

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

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

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

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

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

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 08-Dec-2022)

UMLS symptoms related to Cystic Fibrosis:


hemoptysis; snoring; coughing

Drugs & Therapeutics for Cystic Fibrosis

PubMed Health treatment related to Cystic Fibrosis: 63

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 433)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
2
Ceftolozane Approved, Investigational Phase 4 689293-68-3 75984602
3
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1, 93107-08-5 2764
4
Aztreonam Approved Phase 4 78110-38-0 5742832
5
Azithromycin Approved Phase 4 83905-01-5 447043
6
Fosfomycin Approved Phase 4 23155-02-4 446987
7
Insulin glargine Approved Phase 4 160337-95-1 118984454
8
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
9
Theophylline Approved Phase 4 58-55-9 2153
10
Altretamine Approved Phase 4 645-05-6 2123
11
Telavancin Approved Phase 4 372151-71-8 21014972 3081362
12
Tedizolid phosphate Approved Phase 4 856867-55-5 11511576
13
Tedizolid Approved, Investigational Phase 4 856866-72-3
14
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
15
Atorvastatin Approved Phase 4 134523-00-5 60823
16
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
17
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
18
Avibactam Approved Phase 4 1192500-31-4
19
Tamoxifen Approved Phase 4 10540-29-1, 54965-24-1 2733526
20
Denosumab Approved Phase 4 615258-40-7
21
Insulin aspart Approved Phase 4 116094-23-6 16132418
22
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
23
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3 72562361
24
Relebactam Approved, Investigational Phase 4 1174018-99-5
25
Imipenem Approved Phase 4 74431-23-5, 64221-86-9 104838
26
Cilastatin Approved, Investigational Phase 4 82009-34-5 6435415
27
Ivacaftor Approved Phase 4 873054-44-5 16220172
28
Tazobactam Approved Phase 4 89786-04-9 123630
29
Ceftazidime Approved Phase 4 78439-06-2, 72558-82-8 5481173
30
Piperacillin Approved Phase 4 66258-76-2 43672
31
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
32
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
33
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
34
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
35
Omalizumab Approved, Investigational Phase 4 242138-07-4
36
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
37
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643
38
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
39
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
40
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 4 63-91-2, 673-06-3 6140 71567
41
Xenon Experimental Phase 4 7440-63-3
42 Ceftolozane, tazobactam drug combination Phase 4
43 Chrysarobin Phase 4
44 Acidophilus Phase 4
45 Antirheumatic Agents Phase 4
46 Anti-Inflammatory Agents Phase 4
47 Antineoplastic Agents, Hormonal Phase 4
48 glucocorticoids Phase 4
49 Antimetabolites Phase 4
50 Hypolipidemic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1437)
# 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 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
3 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
4 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
5 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
6 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
7 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
8 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
9 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis (CRITIC) A Randomized Pharmacokinetic Comparison of Tobramycin in Cystic Fibrosis Completed NCT01207245 Phase 4
10 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
11 Pulmonary Rehabilitation in Non Cystic Fibrosis Bronchiectasis Completed NCT00868075 Phase 4
12 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
13 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
14 Is Regular Chest Physiotherapy an Effective Treatment in Severe, Non Cystic Fibrosis Bronchiectasis? Completed NCT00816309 Phase 4
15 Comparison of Sine Waveform High Frequency Chest Wall Oscillation Using Different Settings in Cystic Fibrosis Completed NCT00685035 Phase 4
16 Impact of Backpack Position on Lung Function and Oxygen Consumption in School-aged Children With Cystic Fibrosis Completed NCT02700282 Phase 4
17 Treatment of Aspergillus Fumigatus in Patients With Cystic Fibrosis: A Randomized, Double-blind, Placebo-Controlled Trial Completed NCT00528190 Phase 4 Itraconazole
18 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
19 Vehicles for the Absorption of Vitamin D in Cystic Fibrosis: Comparison of Powder vs Oil Completed NCT01880346 Phase 4
20 A Phase 4 Study to Compare US Marketed Creon Drug Product With Drug Product Manufactured With a Modernized Process at an Alternate Manufacturing Site and With Drug Product Manufactured With the Approved Manufacturing Process at an Alternate Active Pharmaceutical Ingredient Site, in Subjects With EPI Due to Cystic Fibrosis Completed NCT03924947 Phase 4 Pancrelipase
21 Salmeterol-Fluticasone Combined Inhaled Therapy for Non-cystic Fibrosis Bronchiectasis With Airway Limitation: a Prospective Study Completed NCT02782312 Phase 4 ICS+LABA
22 Clinical Efficacy and Safety of Theophylline in the Treatment of Non-Cystic Fibrosis(NCF) Bronchiectasis Completed NCT01684683 Phase 4 Theophylline;Placebo(for Theophylline)
23 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
24 RhDNase Effect on Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
25 Randomized, Placebo-controlled Trial on the Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
26 Pharmacokinetics and Tolerability of Telavancin at Differing Dosing Regimens in Cystic Fibrosis Adults Admitted With Acute Pulmonary Exacerbations Completed NCT03172793 Phase 4 Telavancin Injection
27 Steady-State Pharmacokinetics of Tedizolid in Plasma and Sputum of Patients With Cystic Fibrosis Completed NCT02444234 Phase 4 Tedizolid PO;Tedizolid IV
28 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
29 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
30 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
31 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)
32 Tobramycin 300 mg o.d. Aerosol in in Adult Patients With Cystic Fibrosis: Pilot Study on Antimicrobial Activity Completed NCT01608555 Phase 4 tobramycin
33 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
34 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)
35 A Comparison of Five Airway Clearance Techniques in the Treatment of Adults With Cystic Fibrosis Completed NCT00890370 Phase 4
36 A Pilot Trial of Intravenous Iron for the Treatment of Iron Deficiency in Adult Patients With Cystic Fibrosis Completed NCT03632525 Phase 4 Ferric carboxymaltose
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 A Randomised Controlled Trial of Atorvastatin as an Anti-Inflammatory Agent in Non-Cystic Fibrosis Bronchiectasis in Patients With Pseudomonas Aeruginosa Completed NCT01299194 Phase 4 ATORVASTATIN
45 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
46 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
47 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
48 A Single Arm, Open-label, Multicenter, Phase IV Trial to Assess Long Term Safety of Tobramycin Inhalation Powder (TIP) in Patients With Cystic Fibrosis Completed NCT01519661 Phase 4 TBM100
49 An Open-label, Multicenter, Randomized, Cross-over Study to Compare the Safety and Efficacy of PANZYTRAT® 25,000 to KREON® 25,000 in the Control of Steatorrhea in Subjects Aged 7 Years and Older With Cystic Fibrosis (CF) and Exocrine Pancreatic Insufficiency (EPI) Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
50 Effect of Doxycycline on Sputum Biomarkers of Inflammation and Lung Epithelial Repair in Patients With Cystic Fibrosis. Completed NCT01323101 Phase 4 Doxycycline

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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: 20801416 21658631

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 FCGR2A TGFB1

Anatomical Context for Cystic Fibrosis

Organs/tissues related to Cystic Fibrosis:

MalaCards : Lung, Pancreas, Liver, Heart, Skin, Breast, Neutrophil
ODiseA: Respiratory System-Lung, Respiratory System
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 33219)
# Title Authors PMID Year
1
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 24 57 5
22975760 2013
2
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 24 57 5
22981120 2012
3
Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 53 62 57 5
12167682 2002
4
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. 53 62 57 5
10449435 1999
5
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele. 62 57 5
31697873 2019
6
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 62 57 5
25981758 2015
7
Drug bests cystic-fibrosis mutation. 62 57 5
22318583 2012
8
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. 62 57 5
18685558 2009
9
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. 62 57 5
18424453 2008
10
Complex two-gene modulation of lung disease severity in children with cystic fibrosis. 62 57 5
18292811 2008
11
ENaCbeta and gamma genes as modifier genes in cystic fibrosis. 62 57 5
17560176 2008
12
Genetic modifiers of lung disease in cystic fibrosis. 62 57 5
16207846 2005
13
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. 62 57 5
15948195 2005
14
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. 62 57 5
15367919 2005
15
A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. 62 57 5
12503104 2003
16
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. 62 57 5
12215837 2002
17
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. 62 57 5
12070257 2002
18
Is the spectrum of mutations in Indian patients with cystic fibrosis different? 62 57 5
10869121 2000
19
Cystic fibrosis carrier frequencies in populations of African origin. 62 57 5
9950364 1999
20
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. 62 57 5
9725922 1998
21
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. 62 57 5
9683582 1998
22
The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies. 62 57 5
9550361 1998
23
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. 62 57 5
9150159 1997
24
The diagnosis of cystic fibrosis. 62 57 5
9017943 1997
25
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. 62 57 5
9003498 1997
26
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. 62 57 5
1384328 1992
27
Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. 62 57 5
1518030 1992
28
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. 62 57 5
1379210 1992
29
Genetic determination of exocrine pancreatic function in cystic fibrosis. 62 57 5
1376016 1992
30
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. 62 57 5
1376017 1992
31
Detection of over 98% cystic fibrosis mutations in a Celtic population. 62 57 5
1284639 1992
32
A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. 62 57 5
1284468 1992
33
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. 62 57 5
1715308 1991
34
Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. 62 57 5
1709778 1991
35
Association of less common cystic fibrosis mutations with a mild phenotype. 62 57 5
1999830 1991
36
Identification of the cystic fibrosis gene: genetic analysis. 62 57 5
2570460 1989
37
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis. 62 24 5
27157324 2016
38
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy. 57 5
21184098 2011
39
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. 62 24 5
20522854 2010
40
Could a defective epithelial sodium channel lead to bronchiectasis. 57 5
18507830 2008
41
Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation. 57 5
10970190 2000
42
A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. 57 5
10777364 2000
43
Double mutant alleles: are they rare? 57 5
8528204 1995
44
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. 57 5
7691345 1993
45
Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. 57 5
7680769 1993
46
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. 62 24 5
7680525 1993
47
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). 57 5
2210767 1990
48
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR. 24 5
34196078 2021
49
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length. 24 5
27447098 2016
50
Recommendations for the classification of diseases as CFTR-related disorders. 24 5
21658649 2011

Variations for Cystic Fibrosis

ClinVar genetic disease variations for Cystic Fibrosis:

5 (show top 50) (show all 3546)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFTR, LOC111674475 NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) SNV Pathogenic
7117 rs121908755 GRCh37: 7:117227854-117227854
GRCh38: 7:117587800-117587800
2 CFTR NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) SNV Pathogenic
7133 rs121909010 GRCh37: 7:117292969-117292969
GRCh38: 7:117652915-117652915
3 CFTR NM_000492.4(CFTR):c.723_743+1del DEL Pathogenic
7145 rs121908804 GRCh37: 7:117175442-117175463
GRCh38: 7:117535388-117535409
4 CFTR NM_000492.4(CFTR):c.424del (p.Ile142fs) DEL Pathogenic
7146 rs387906363 GRCh37: 7:117171103-117171103
GRCh38: 7:117531049-117531049
5 CFTR NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs) MICROSAT Pathogenic
7154 rs387906365 GRCh37: 7:117180373-117180374
GRCh38: 7:117540319-117540320
6 CFTR NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter) SNV Pathogenic
7157 rs121909018 GRCh37: 7:117232700-117232700
GRCh38: 7:117592646-117592646
7 CFTR, LOC111674472 NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs) DUP Pathogenic
7161 rs387906366 GRCh37: 7:117251678-117251679
GRCh38: 7:117611624-117611625
8 CFTR NM_000492.4(CFTR):c.744-14_744-3del DEL Pathogenic
7170 rs387906367 GRCh37: 7:117176588-117176599
GRCh38: 7:117536534-117536545
9 CFTR NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter) SNV Pathogenic
7174 rs121909023 GRCh37: 7:117232367-117232367
GRCh38: 7:117592313-117592313
10 CFTR NM_000492.4(CFTR):c.3767dup (p.Leu1258fs) DUP Pathogenic
7178 rs387906370 GRCh37: 7:117282540-117282541
GRCh38: 7:117642486-117642487
11 CFTR, LOC113664106 NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) SNV Pathogenic
7179 rs121909025 GRCh37: 7:117149094-117149094
GRCh38: 7:117509040-117509040
12 CFTR NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser) SNV Pathogenic
7184 rs121909028 GRCh37: 7:117282631-117282631
GRCh38: 7:117642577-117642577
13 CFTR NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del) DEL Pathogenic
7188 rs387906371 GRCh37: 7:117171138-117171155
GRCh38: 7:117531084-117531101
14 CFTR CFTR, GLN524HIS SNV Pathogenic
7191 GRCh37:
GRCh38:
15 CFTR NM_000492.4(CFTR):c.1943A>T (p.Asp648Val) SNV Pathogenic
7202 rs121909033 GRCh37: 7:117232164-117232164
GRCh38: 7:117592110-117592110
16 CFTR NM_000492.4(CFTR):c.805_806del (p.Ile269fs) MICROSAT Pathogenic
7206 rs121908773 GRCh37: 7:117176661-117176662
GRCh38: 7:117536607-117536608
17 CFTR NM_000492.4(CFTR):c.2845C>T (p.His949Tyr) SNV Pathogenic
7207 rs121909035 GRCh37: 7:117243773-117243773
GRCh38: 7:117603719-117603719
18 CFTR, LOC111674472 NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro) SNV Pathogenic
7209 rs121909037 GRCh37: 7:117251707-117251707
GRCh38: 7:117611653-117611653
19 CFTR NM_000492.4(CFTR):c.3907A>C (p.Asn1303His) SNV Pathogenic
7218 rs121909042 GRCh37: 7:117292929-117292929
GRCh38: 7:117652875-117652875
20 CFTR NM_000492.4(CFTR):c.2291del (p.Arg764fs) DEL Pathogenic
7220 rs387906376 GRCh37: 7:117232512-117232512
GRCh38: 7:117592458-117592458
21 CFTR NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter) DUP Pathogenic
7230 rs387906379 GRCh37: 7:117267596-117267597
GRCh38: 7:117627542-117627543
22 CFTR A445E VAR Pathogenic
7234 GRCh37:
GRCh38:
23 CFTR NM_000492.4(CFTR):c.19G>T (p.Glu7Ter) SNV Pathogenic
7235 rs121909045 GRCh37: 7:117120167-117120167
GRCh38: 7:117480113-117480113
24 CFTR NM_000492.4(CFTR):c.860dup (p.Asn287fs) DUP Pathogenic
7236 rs387906380 GRCh37: 7:117176714-117176715
GRCh38: 7:117536660-117536661
25 CFTR NM_000492.4(CFTR):c.1692del (p.Asp565fs) DEL Pathogenic
Pathogenic
35831 rs193922505 GRCh37: 7:117230417-117230417
GRCh38: 7:117590363-117590363
26 CFTR NM_000492.4(CFTR):c.3691del (p.Ser1231fs) DEL Pathogenic
35871 rs77035409 GRCh37: 7:117267796-117267796
GRCh38: 7:117627742-117627742
27 CFTR, CFTR-AS1 NM_000492.4(CFTR):c.1373del (p.Gly458fs) DEL Pathogenic
Pathogenic
53237 rs397508196 GRCh37: 7:117188857-117188857
GRCh38: 7:117548803-117548803
28 CFTR NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) SNV Pathogenic
53238 rs151020603 GRCh37: 7:117144390-117144390
GRCh38: 7:117504336-117504336
29 CFTR NM_000492.4(CFTR):c.164+1G>A SNV Pathogenic
53303 rs397508243 GRCh37: 7:117144418-117144418
GRCh38: 7:117504364-117504364
30 CFTR, LOC111674475 NM_000492.4(CFTR):c.1650del (p.Gly551fs) DEL Pathogenic
53319 rs397508251 GRCh37: 7:117227858-117227858
GRCh38: 7:117587804-117587804
31 CFTR NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter) SNV Pathogenic
53434 rs397508336 GRCh37: 7:117232274-117232274
GRCh38: 7:117592220-117592220
32 CFTR NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) SNV Pathogenic
Pathogenic
53509 rs397508394 GRCh37: 7:117235040-117235040
GRCh38: 7:117594986-117594986
33 CFTR NM_000492.4(CFTR):c.310del (p.Arg104fs) DEL Pathogenic
53653 rs397508499 GRCh37: 7:117170988-117170988
GRCh38: 7:117530934-117530934
34 CFTR, LOC111674472 NM_000492.4(CFTR):c.3139_3139+1del DEL Pathogenic
53660 rs397508505 GRCh37: 7:117250723-117250724
GRCh38: 7:117610669-117610670
35 CFTR NM_000492.4(CFTR):c.4147dup (p.Ile1383fs) DUP Pathogenic
53903 rs397508685 GRCh37: 7:117305520-117305521
GRCh38: 7:117665466-117665467
36 CFTR NM_000492.4(CFTR):c.53+1G>T SNV Pathogenic
53988 rs397508746 GRCh37: 7:117120202-117120202
GRCh38: 7:117480148-117480148
37 CFTR NM_000492.4(CFTR):c.543_546del (p.Leu183fs) DEL Pathogenic
53996 rs397508750 GRCh37: 7:117174381-117174384
GRCh38: 7:117534327-117534330
38 CFTR NM_000492.4(CFTR):c.680T>G (p.Leu227Arg) SNV Pathogenic
54040 rs397508782 GRCh37: 7:117175402-117175402
GRCh38: 7:117535348-117535348
39 CFTR NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter) SNV Pathogenic
53212 rs397508174 GRCh37: 7:117182155-117182155
GRCh38: 7:117542101-117542101
40 CFTR, CFTR-AS1 NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter) SNV Pathogenic
Pathogenic
53244 rs121908805 GRCh37: 7:117199522-117199522
GRCh38: 7:117559468-117559468
41 CFTR NM_000492.4(CFTR):c.2583del (p.Phe861fs) DEL Pathogenic
53515 rs397508399 GRCh37: 7:117235072-117235072
GRCh38: 7:117595018-117595018
42 CFTR NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) SNV Pathogenic
53590 rs397508453 GRCh37: 7:117243836-117243836
GRCh38: 7:117603782-117603782
43 CFTR and overlap with 1 gene(s) NM_000492.4(CFTR):c.3964-78_4242+577del DEL Pathogenic
66104 GRCh37: 7:117304664-117306195
GRCh38: 7:117664607-117666138
44 CFTR NP_000483.3(CFTR):p.Tyr1092Ter PROTEIN Pathogenic
375475 GRCh37:
GRCh38:
45 CFTR NM_000492.4(CFTR):c.3963+1G>A SNV Pathogenic
161996 rs672601314 GRCh37: 7:117292986-117292986
GRCh38: 7:117652932-117652932
46 CFTR NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys) SNV Pathogenic
161997 rs672601315 GRCh37: 7:117243628-117243628
GRCh38: 7:117603574-117603574
47 CFTR NC_000007.14:g.(?_117664682)_(117665570_?)del DEL Pathogenic
455759 GRCh37:
GRCh38: 7:117664682-117665570
48 CFTR, LOC111674472 NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) SNV Pathogenic
53654 rs397508500 GRCh37: 7:117250708-117250708
GRCh38: 7:117610654-117610654
49 CFTR NM_000492.4(CFTR):c.57G>A (p.Trp19Ter) SNV Pathogenic
487391 rs397508762 GRCh37: 7:117144310-117144310
GRCh38: 7:117504256-117504256
50 CFTR NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) SNV Pathogenic
53442 rs397508343 GRCh37: 7:117232364-117232364
GRCh38: 7:117592310-117592310

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

73 (show top 50) (show all 128)
# 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.Asp110His VAR_000119 rs113993958
15 CFTR p.Arg117Cys VAR_000121 rs77834169
16 CFTR p.Arg117His VAR_000122 rs78655421
17 CFTR p.Arg117Leu VAR_000123 rs78655421
18 CFTR p.Arg117Pro VAR_000124 rs78655421
19 CFTR p.Ala120Thr VAR_000125 rs201958172
20 CFTR p.His139Arg VAR_000126 rs76371115
21 CFTR p.Ala141Asp VAR_000127 rs397508700
22 CFTR p.Gly178Arg VAR_000130 rs80282562
23 CFTR p.Glu193Lys VAR_000132 rs397508759
24 CFTR p.His199Gln VAR_000133 rs397508765
25 CFTR p.His199Tyr VAR_000134 rs121908802
26 CFTR p.Pro205Ser VAR_000135 rs121908803
27 CFTR p.Leu206Trp VAR_000136 rs121908752
28 CFTR p.Asn287Tyr VAR_000140 rs397508804
29 CFTR p.Arg297Gln VAR_000141 rs143486492
30 CFTR p.Ser307Asn VAR_000143 rs397508817
31 CFTR p.Phe311Leu VAR_000144 rs121909016
32 CFTR p.Gly314Glu VAR_000146 rs75763344
33 CFTR p.Gly314Arg VAR_000147 rs397508819
34 CFTR p.Arg334Trp VAR_000148 rs121909011
35 CFTR p.Ile336Lys VAR_000150 rs397508139
36 CFTR p.Thr338Ile VAR_000151 rs77409459
37 CFTR p.Leu346Pro VAR_000152 rs397508146
38 CFTR p.Arg347His VAR_000153 rs77932196
39 CFTR p.Arg347Leu VAR_000154 rs77932196
40 CFTR p.Arg347Pro VAR_000155 rs77932196
41 CFTR p.Arg352Gln VAR_000156 rs121908753
42 CFTR p.Gln359Lys VAR_000157 rs76879328
43 CFTR p.Ala455Glu VAR_000160 rs74551128
44 CFTR p.Val456Phe VAR_000161 rs397508195
45 CFTR p.Gly458Val VAR_000162 rs121909009
46 CFTR p.Gly480Cys VAR_000165 rs79282516
47 CFTR p.Ser492Phe VAR_000166 rs121909017
48 CFTR p.Glu504Gln VAR_000167 rs397508223
49 CFTR p.Val520Phe VAR_000174 rs77646904
50 CFTR p.Ser549Asn VAR_000176 rs121908755

Copy number variations for Cystic Fibrosis from CNVD:

6
# 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 directly related to Cystic Fibrosis:

# Pathway Source
1 Defective CFTR causes cystic fibrosis Reactome 66

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

# Super pathways Score Top Affiliating Genes
1 11.26 TGFB1 SERPINA1 CFTR
2 10.6 TGFB1 SERPINA1 HMOX1
3 10.5 STX1A HMOX1

GO Terms for Cystic Fibrosis

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

# Name GO ID Score Top Affiliating Genes
1 chloride transport GO:0006821 9.02 SLC6A14 SLC26A9 CFTR

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 8.92 STX1A CFTR

Sources for Cystic Fibrosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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