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 74 20 43 58 73 36 29 13 54 6 42 44 15 37 62 39 71 32
Mucoviscidosis 57 12 20 43 58 73
Cf 57 12 20 43 58 73
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


Orphanet epidemiological data:

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


57 (Updated 05-Mar-2021)
autosomal recessive

delta-f508 present in 70% of alleles


cystic fibrosis:
Inheritance autosomal recessive inheritance


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 72 C0010674
Orphanet 58 ORPHA586
MedGen 41 C0010674
UMLS 71 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 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 ABC transporters and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Clavulanate and Ticarcillin 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; 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 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-Mar-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 : 73 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 : 74 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 1105)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 33.4 LOC113664106 LOC111674472 CFTR-AS1 CFTR
2 lung disease 33.2 TGFB1 SERPINA1 S100A9 S100A8 MBL2 CFTR
3 bronchiectasis 33.1 SERPINA1 MBL2 CFTR
4 cystic fibrosis and congenital absence of the vas deferens 32.8 TGFB1 FCGR2A CFTR
5 mycobacterium abscessus 32.7 SERPINA1 CFTR
6 bronchitis 32.2 SERPINA1 EPHX1 DNASE1 CFTR
7 pulmonary disease, chronic obstructive 32.0 TGFB1 SERPINA1 EPHX1 CFTR
8 disease by infectious agent 31.5 SERPINA1 MBL2 FCGR2A CFTR
9 iga glomerulonephritis 31.1 TGFB1 SERPINA1 MBL2
10 vasculitis 31.0 SERPINA1 S100A9 MBL2
11 laryngitis 30.8 TGFB1 DNASE1
12 anthracosis 30.4 TGFB1 EPHX1
13 acute diarrhea 30.1 STX1A S100A9
14 fibrosis of extraocular muscles, congenital, 1 11.7
15 cystic fibrosis, modifier of, 1 11.5
16 bronchiectasis with or without elevated sweat chloride 2 11.5
17 vas deferens, congenital bilateral aplasia of 11.5
18 bronchiectasis with or without elevated sweat chloride 3 11.5
19 meconium ileus 11.4
20 allergic bronchopulmonary aspergillosis 11.4
21 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 11.3
22 lubani-al saleh-teebi syndrome 11.3
23 aspergillosis 11.3
24 respiratory failure 11.3
25 exocrine pancreatic insufficiency 11.2
26 pancreatitis 11.2
27 aquagenic syringeal acrokeratoderma 11.2
28 keratomalacia 11.1
29 panbronchiolitis, diffuse 11.1
30 ileus 11.1
31 autosomal recessive disease 11.1
32 shwachman-diamond syndrome 1 11.0
33 young syndrome 11.0
34 nontuberculous mycobacterial lung disease 11.0
35 pseudohypoaldosteronism, type i, autosomal recessive 11.0
36 middle lobe syndrome 11.0
37 hyperchlorhidrosis, isolated 11.0
38 bile acid synthesis defect, congenital, 2 11.0
39 bartter syndrome, type 3 11.0
40 bile acid synthesis defect, congenital, 1 11.0
41 kilquist syndrome 11.0
42 mycobacterium avium complex infections 11.0
43 liver disease 10.9
44 stenotrophomonas maltophilia infection 10.9
45 haemophilus influenzae 10.9
46 bacterial infectious disease 10.9
47 intestinal obstruction 10.9
48 portal hypertension 10.8
49 pneumothorax 10.8
50 proteasome-associated autoinflammatory syndrome 1 10.8

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-Mar-2021)
Growth Other:
failure to thrive

Laboratory Abnormalities:
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:
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-Mar-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 443)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
Ticarcillin Approved, Investigational, Vet_approved Phase 4 34787-01-4 36921
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
Azithromycin Approved Phase 4 83905-01-5 55185 447043
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
Fosfomycin Approved Phase 4 23155-02-4 446987
Amikacin Approved, Investigational, Vet_approved Phase 4 37517-28-5 37768
Insulin glargine Approved Phase 4 160337-95-1
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
Avibactam Approved Phase 4 1192500-31-4
Telavancin Approved Phase 4 372151-71-8
Ceftolozane Approved, Investigational Phase 4 689293-68-3
Tedizolid Approved, Investigational Phase 4 856866-72-3
Tedizolid phosphate Approved Phase 4 856867-55-5
Atorvastatin Approved Phase 4 134523-00-5 60823
Theophylline Approved Phase 4 58-55-9 2153
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
Tamoxifen Approved Phase 4 10540-29-1 2733526
Iron Approved Phase 4 7439-89-6 23925 29936
Insulin aspart Approved Phase 4 116094-23-6 16132418
Denosumab Approved Phase 4 615258-40-7
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
Colistin Approved Phase 4 1066-17-7, 1264-72-8 5311054
Pancrelipase Approved, Investigational Phase 4 53608-75-6
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
Ivacaftor Approved Phase 4 873054-44-5 16220172
Tazobactam Approved Phase 4 89786-04-9 123630
Piperacillin Approved Phase 4 66258-76-2 43672
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
Ceftazidime Approved Phase 4 72558-82-8, 78439-06-2 5481173
Mycophenolic acid Approved Phase 4 24280-93-1 446541
Omalizumab Approved, Investigational Phase 4 242138-07-4
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
44 Ticarcillin-clavulanic acid Phase 4
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
46 Lipid Regulating Agents Phase 4
47 Hypolipidemic Agents Phase 4
48 Antimetabolites Phase 4
49 Anticholesteremic Agents Phase 4
50 Antimalarials Phase 4

Interventional clinical trials:

(show top 50) (show all 1307)
# Name Status NCT ID Phase Drugs
1 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
2 Effect of Azithromycin on Lipoproteins and Docosahexaenoic Acid in Patients With Cystic Fibrosis Unknown status NCT03045198 Phase 4 Azithromycin
3 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
4 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
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 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 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
8 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
9 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
10 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
11 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
12 Tobramycin 300 mg o.d. Aerosol in in Adult Patients With Cystic Fibrosis: Pilot Study on Antimicrobial Activity Completed NCT01608555 Phase 4 tobramycin
13 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
14 RhDNase Effect on Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
15 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis (CRITIC) A Randomized Pharmacokinetic Comparison of Tobramycin in Cystic Fibrosis Completed NCT01207245 Phase 4
16 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
17 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
18 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
19 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
20 Comparison of Sine Waveform High Frequency Chest Wall Oscillation Using Different Settings in Cystic Fibrosis Completed NCT00685035 Phase 4
21 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
22 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
23 Standardized Treatment of Pulmonary Exacerbations II (STOP2) Completed NCT02781610 Phase 4 Standard of care IV antibiotic(s)
24 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)
25 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)
26 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
27 Vehicles for the Absorption of Vitamin D in Cystic Fibrosis: Comparison of Powder vs Oil Completed NCT01880346 Phase 4
28 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
29 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
30 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
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 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
34 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
35 Effect of Doxycycline on Sputum Biomarkers of Inflammation and Lung Epithelial Repair in Patients With Cystic Fibrosis. Completed NCT01323101 Phase 4 Doxycycline
36 Impact of Backpack Position on Lung Function and Oxygen Consumption in School-aged Children With Cystic Fibrosis Completed NCT02700282 Phase 4
37 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
38 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in CF Completed NCT02504827 Phase 4 Ceftazidime/avibactam
39 Treatment of Aspergillus Fumigatus in Patients With Cystic Fibrosis: A Randomized, Double-blind, Placebo-Controlled Trial Completed NCT00528190 Phase 4 Itraconazole
40 A Comparison of Five Airway Clearance Techniques in the Treatment of Adults With Cystic Fibrosis Completed NCT00890370 Phase 4
41 Pharmacokinetics and Tolerability of Telavancin at Differing Dosing Regimens in Cystic Fibrosis Adults Admitted With Acute Pulmonary Exacerbations Completed NCT03172793 Phase 4 Telavancin Injection
42 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
43 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
44 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
45 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
46 Steady-State Pharmacokinetics of Tedizolid in Plasma and Sputum of Patients With Cystic Fibrosis Completed NCT02444234 Phase 4 Tedizolid PO;Tedizolid IV
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 Comparison of the Airway Clearance Efficacy of Electro Flo 5000 and Vest Therapy in Completed NCT02277626 Phase 4
49 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
50 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

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 71 / NDF-RT 51 :

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 29 CFTR FCGR2A TGFB1

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

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 31708)
# Title Authors PMID Year
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. 57 6 54 61
10449435 1999
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 6 57 61
25981758 2015
Drug bests cystic-fibrosis mutation. 61 6 57
22318583 2012
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. 61 6 57
18424453 2008
Complex two-gene modulation of lung disease severity in children with cystic fibrosis. 6 57 61
18292811 2008
Genetic modifiers of lung disease in cystic fibrosis. 6 57 61
16207846 2005
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. 61 6 57
15367919 2005
A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. 57 6 61
12503104 2003
Is the spectrum of mutations in Indian patients with cystic fibrosis different? 61 6 57
10869121 2000
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. 61 6 57
9683582 1998
The diagnosis of cystic fibrosis. 61 6 57
9017943 1997
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. 61 6 57
9003498 1997
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. 57 6 61
1384328 1992
Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. 57 6 61
1518030 1992
Detection of over 98% cystic fibrosis mutations in a Celtic population. 57 6 61
1284639 1992
A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. 61 6 57
1284468 1992
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. 61 57 6
1715308 1991
Association of less common cystic fibrosis mutations with a mild phenotype. 57 6 61
1999830 1991
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6 57
22981120 2012
Could a defective epithelial sodium channel lead to bronchiectasis. 57 6
18507830 2008
A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. 57 6
10777364 2000
Double mutant alleles: are they rare? 6 57
8528204 1995
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
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. 6 54 61
20068595 2010
Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. 54 61 57
17158822 2007
Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 57 54 61
12167682 2002
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. 57 54 61
11333866 2001
Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis. 57 54 61
10866448 2000
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. 6 61 54
10652351 2000
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. 61 54 57
9725921 1998
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 57 61 54
9654209 1998
A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. 57 54 61
7544439 1995
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. 6 61 54
1380673 1992
Regulation of plasma membrane recycling by CFTR. 61 54 57
1373908 1992
A preliminary study of aerosolized recombinant human deoxyribonuclease I in the treatment of cystic fibrosis. 61 57 54
1538726 1992
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. 6 54 61
2210768 1990
Triple Therapy for Cystic Fibrosis with a Phe508del CFTR Mutation. 57 61
32053310 2020
Triple Therapy for Cystic Fibrosis with a Phe508del CFTR Mutation. Reply. 61 57
32053311 2020
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele. 61 57
31697873 2019
Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis. 6 61
31136843 2019
Modifier genes in cystic fibrosis-related liver disease. 61 6
30585791 2019
Small-molecule ion channels increase host defences in cystic fibrosis airway epithelia. 57 61
30867598 2019
Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. 61 6
30291871 2019
Characterization of Δ(G970-T1122)-CFTR, the most frequent CFTR mutant identified in Japanese cystic fibrosis patients. 6 61
29951967 2019
Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis. 57 61
29099333 2017
Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del. 61 57
29099344 2017
Numerical and experimental investigation of mucociliary clearance breakdown in cystic fibrosis. 61 6
28117099 2017
∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. 61 6
26618866 2015
Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients. 61 6
25178872 2015
Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis. 61 57
25124441 2014

Variations for Cystic Fibrosis

ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 2143)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFTR NM_000492.3(CFTR):c.1093_1094delCT Microsatellite Pathogenic 7154 rs387906365 7:117180373-117180374 7:117540319-117540320
2 CFTR NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) SNV Pathogenic 7157 rs121909018 7:117232700-117232700 7:117592646-117592646
3 CFTR NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs) Duplication Pathogenic 7161 rs387906366 7:117251678-117251679 7:117611624-117611625
4 CFTR NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met) SNV Pathogenic 7167 rs77902683 7:117282622-117282622 7:117642568-117642568
5 CFTR NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) SNV Pathogenic 40200 rs76879328 7:117180359-117180359 7:117540305-117540305
6 CFTR NM_000492.3(CFTR):c.744-14_744-3del Deletion Pathogenic 7170 rs387906367 7:117176588-117176599 7:117536534-117536545
7 CFTR NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) SNV Pathogenic 7174 rs121909023 7:117232367-117232367 7:117592313-117592313
8 CFTR NM_000492.3(CFTR):c.1373G>T (p.Gly458Val) SNV Pathogenic 7132 rs121909009 7:117188858-117188858 7:117548804-117548804
9 CFTR NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) SNV Pathogenic 7133 rs121909010 7:117292969-117292969 7:117652915-117652915
10 CFTR NM_000492.3(CFTR):c.424del (p.Ile142fs) Deletion Pathogenic 7146 rs387906363 7:117171103-117171103 7:117531049-117531049
11 CFTR NM_000492.3(CFTR):c.429del (p.Phe143fs) Deletion Pathogenic 7147 rs387906364 7:117171104-117171104 7:117531050-117531050
12 CFTR NM_000492.3(CFTR):c.271G>A (p.Gly91Arg) SNV Pathogenic 7183 rs121908750 7:117149194-117149194 7:117509140-117509140
13 CFTR NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) SNV Pathogenic 7184 rs121909028 7:117282631-117282631 7:117642577-117642577
14 CFTR NM_000492.3(CFTR):c.459_476del (p.Ala155_Ile160del) Deletion Pathogenic 7188 rs387906371 7:117171138-117171155 7:117531084-117531101
15 CFTR CFTR, GLN524HIS SNV Pathogenic 7191
16 CFTR NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile) SNV Pathogenic 7117 rs121908755 7:117227854-117227854 7:117587800-117587800
17 CFTR NP_000483.3:p.Ser549Arg protein only Pathogenic 375610
18 CFTR NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) SNV Pathogenic 7197 rs121909031 7:117171005-117171005 7:117530951-117530951
19 CFTR NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) SNV Pathogenic 7202 rs121909033 7:117232164-117232164 7:117592110-117592110
20 CFTR NM_000492.3(CFTR):c.805_806delAT Microsatellite Pathogenic 7206 rs121908773 7:117176661-117176662 7:117536607-117536608
21 CFTR NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) SNV Pathogenic 7207 rs121909035 7:117243773-117243773 7:117603719-117603719
22 CFTR NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro) SNV Pathogenic 7209 rs121909037 7:117251707-117251707 7:117611653-117611653
23 CFTR NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) SNV Pathogenic 7218 rs121909042 7:117292929-117292929 7:117652875-117652875
24 CFTR NM_000492.3(CFTR):c.2291del (p.Arg764fs) Deletion Pathogenic 7220 rs387906376 7:117232512-117232512 7:117592458-117592458
25 CFTR NM_000492.3(CFTR):c.3161del (p.His1054fs) Deletion Pathogenic 7221 rs387906377 7:117251656-117251656 7:117611602-117611602
26 CFTR NM_000492.3(CFTR):c.1083del (p.Trp361fs) Deletion Pathogenic 7213 rs387906375 7:117180366-117180366 7:117540312-117540312
27 CFTR NM_000492.3(CFTR):c.-102= SNV Pathogenic 7226 7:117120047-117120047 7:117479993-117479993
28 LOC113664106 NG_016465.3:g.(37526_37529)_(58606_58609) Deletion Pathogenic 7227 7:117138363-117159446 7:117498309-117519392
29 CFTR NM_000492.3(CFTR):c.3492dup (p.Lys1165Ter) Duplication Pathogenic 7230 rs387906379 7:117267596-117267597 7:117627542-117627543
30 CFTR A445E Variation Pathogenic 7234
31 CFTR NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) SNV Pathogenic 7235 rs121909045 7:117120167-117120167 7:117480113-117480113
32 CFTR NM_000492.3(CFTR):c.860dup (p.Asn287fs) Duplication Pathogenic 7236 rs387906380 7:117176714-117176715 7:117536660-117536661
33 CFTR NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) SNV Pathogenic 7239 rs121909034 7:117243663-117243663 7:117603609-117603609
34 CFTR NM_000492.3(CFTR):c.1911del (p.Gln637fs) Deletion Pathogenic 35834 rs1554389296 7:117232132-117232132 7:117592078-117592078
35 CFTR NM_000492.3(CFTR):c.3691del (p.Ser1231fs) Deletion Pathogenic 35871 rs77035409 7:117267796-117267796 7:117627742-117627742
36 CFTR NM_000492.3(CFTR):c.1393-2A>G SNV Pathogenic 53243 rs397508201 7:117199516-117199516 7:117559462-117559462
37 CFTR NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) SNV Pathogenic 53278 rs1800092 7:117199643-117199643 7:117559589-117559589
38 CFTR NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) SNV Pathogenic 53282 rs397508227 7:117199698-117199698 7:117559644-117559644
39 CFTR NM_000492.3(CFTR):c.1648G>T (p.Gly550Ter) SNV Pathogenic 53312 rs397508247 7:117227856-117227856 7:117587802-117587802
40 CFTR NM_000492.3(CFTR):c.1680-877G>T SNV Pathogenic 53331 rs397508261 7:117229530-117229530 7:117589476-117589476
41 CFTR NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) SNV Pathogenic 53266 rs397508217 7:117144401-117144401 7:117504347-117504347
42 CFTR NM_000492.3(CFTR):c.170G>A (p.Trp57Ter) SNV Pathogenic 53355 rs397508279 7:117149093-117149093 7:117509039-117509039
43 CFTR NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) SNV Pathogenic 53434 rs397508336 7:117232274-117232274 7:117592220-117592220
44 CFTR NM_000492.3(CFTR):c.2896del (p.Thr966fs) Deletion Pathogenic 53587 rs397508451 7:117243824-117243824 7:117603770-117603770
45 CFTR NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) SNV Pathogenic 53509 rs397508394 7:117235040-117235040 7:117594986-117594986
46 CFTR NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) SNV Pathogenic 53534 rs397508412 7:117149186-117149186 7:117509132-117509132
47 CFTR NM_000492.3(CFTR):c.2825del (p.Ile942fs) Deletion Pathogenic 53574 rs397508441 7:117243753-117243753 7:117603699-117603699
48 CFTR NM_000492.3(CFTR):c.3908del (p.Asn1303fs) Deletion Pathogenic 53847 rs397508637 7:117292925-117292925 7:117652871-117652871
49 CFTR NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del Deletion Pathogenic 209048
50 CFTR NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del Deletion Pathogenic 209050

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

73 (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:

# 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:

# 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

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 collagen-containing extracellular matrix GO:0062023 9.02 TGFB1 SERPINA1 S100A9 S100A8 MBL2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of cytoskeleton organization GO:0051493 9.49 S100A9 S100A8
2 positive regulation of exocytosis GO:0045921 9.48 STX1A CFTR
3 cytokine production GO:0001816 9.46 S100A9 S100A8
4 astrocyte development GO:0014002 9.43 S100A9 S100A8
5 leukocyte migration involved in inflammatory response GO:0002523 9.4 S100A9 S100A8
6 chronic inflammatory response GO:0002544 9.37 S100A9 S100A8
7 autocrine signaling GO:0035425 9.32 S100A9 S100A8
8 chemokine production GO:0032602 9.26 S100A9 S100A8
9 peptidyl-cysteine S-nitrosylation GO:0018119 9.16 S100A9 S100A8
10 sequestering of zinc ion GO:0032119 8.96 S100A9 S100A8
11 neutrophil aggregation GO:0070488 8.62 S100A9 S100A8

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 9.54 TGFB1 STX1A DCTN4
2 RAGE receptor binding GO:0050786 9.32 S100A9 S100A8
3 chloride channel inhibitor activity GO:0019869 9.26 STX1A CFTR
4 arachidonic acid binding GO:0050544 9.16 S100A9 S100A8
5 Toll-like receptor 4 binding GO:0035662 8.96 S100A9 S100A8
6 calcium-dependent protein binding GO:0048306 8.92 STX1A S100A9 S100A8 MBL2

Sources for Cystic Fibrosis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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