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CF
MCID: CYS001
MIFTS: 80

Cystic Fibrosis (CF)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cystic Fibrosis

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MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 56 12 74 52 25 58 73 36 29 13 54 6 42 43 15 37 62 39 71 32
Mucoviscidosis 56 12 52 25 58 73
Cf 56 12 52 25 58 73
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 56 6
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 56
Cystic Fibrosis Lung Disease, Modifier of 56
Fibrocystic Disease of Pancreas 25
Cystic Fibrosis of Pancreas 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

31
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Gastrointestinal diseases Liver diseases Reproductive diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases
Rare hepatic diseases
Rare infertility disorders
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:1485
OMIM 56 219700
KEGG 36 H00218
ICD9CM 34 277.0
MeSH 43 D003550
NCIt 49 C2975
SNOMED-CT 67 85809002
MESH via Orphanet 44 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
Sources

Summaries for Cystic Fibrosis

About this section
Genetics Home Reference : 25 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 cystic fibrosis and congenital absence of the vas deferens and bronchiectasis with or without elevated sweat chloride 1, 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 wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). The drugs Clarithromycin and Dexlansoprazole 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 An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.

NIH Rare Diseases : 52 Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; p ersistent coughing; f requent lung infections; w heezing or shortness of breath; p oor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility . Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive . Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement , and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.

OMIM : 56 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)

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...

Sources

Related Diseases for Cystic Fibrosis

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

(show top 50) (show all 1197)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis and congenital absence of the vas deferens 34.9 TGFB1 FCGR2A CFTR
2 bronchiectasis with or without elevated sweat chloride 1 34.2 CFTR-AS1 CFTR
3 bronchiectasis 34.0 SERPINA1 SCNN1A MBL2 CFTR
4 mycobacterium abscessus 33.6 SERPINA1 CFTR
5 lung disease 33.4 TGFB1 SERPINA1 S100A9 S100A8 MBL2 CFTR
6 meconium ileus 33.2 CLCA1 CFTR
7 bacterial infectious disease 32.5 MBL2 FCGR2A DEFB1 CFTR
8 pulmonary disease, chronic obstructive 32.4 TGFB1 SERPINA1 EPHX1 DEFB1 CLCA1 CFTR
9 bronchitis 32.2 SERPINA1 DNASE1 CFTR
10 pneumonia 31.9 TGFB1 SERPINA1 MBL2 CFTR
11 idiopathic bronchiectasis 31.5 SCNN1A CFTR
12 acute diarrhea 30.6 STX1A SLC9A3R2 S100A9
13 anthracosis 30.4 TGFB1 EPHX1
14 cystic fibrosis, modifier of, 1 12.7
15 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.5
16 obsolete: follicular hamartoma-alopecia-cystic fibrosis syndrome 12.3
17 bronchiectasis with or without elevated sweat chloride 2 12.2
18 bronchiectasis with or without elevated sweat chloride 3 12.2
19 vas deferens, congenital bilateral aplasia of 12.0
20 allergic bronchopulmonary aspergillosis 11.8
21 fibrosis of extraocular muscles, congenital, 1 11.7
22 aspergillosis 11.7
23 respiratory failure 11.7
24 aquagenic syringeal acrokeratoderma 11.7
25 exocrine pancreatic insufficiency 11.6
26 pancreatitis 11.6
27 keratomalacia 11.6
28 lubani-al saleh-teebi syndrome 11.5
29 panbronchiolitis, diffuse 11.5
30 cramp-fasciculation syndrome 11.5
31 shwachman-diamond syndrome 1 11.5
32 young syndrome 11.5
33 nontuberculous mycobacterial lung disease 11.5
34 pseudohypoaldosteronism, type i, autosomal recessive 11.5
35 middle lobe syndrome 11.5
36 hyperchlorhidrosis, isolated 11.2
37 bile acid synthesis defect, congenital, 2 11.2
38 bartter syndrome, type 3 11.2
39 bile acid synthesis defect, congenital, 1 11.2
40 mycobacterium avium complex infections 11.2
41 ileus 11.0
42 autosomal recessive disease 11.0
43 pancreatic ductal adenocarcinoma 11.0
44 liver disease 10.9
45 stenotrophomonas maltophilia infection 10.8
46 haemophilus influenzae 10.8
47 miliaria rubra 10.8 SCNN1A CFTR
48 intestinal obstruction 10.8
49 miliaria 10.8 SCNN1A CFTR
50 portal hypertension 10.8

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



Diseases related to Cystic Fibrosis
Sources

Symptoms & Phenotypes for Cystic Fibrosis

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Human phenotypes related to Cystic Fibrosis:

58 31 (show all 21)
# 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 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
4 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
5 biliary cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002613
6 exocrine pancreatic insufficiency 58 31 frequent (33%) Very frequent (99-80%) HP:0001738
7 decreased antibody level in blood 58 31 hallmark (90%) Very frequent (99-80%) 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 hypercalciuria 31 HP:0002150
12 asthma 31 HP:0002099
13 recurrent pneumonia 31 HP:0006532
14 rectal prolapse 31 HP:0002035
15 male infertility 31 HP:0003251
16 bronchiectasis 31 HP:0002110
17 chronic lung disease 31 HP:0006528
18 recurrent bronchopulmonary infections 31 HP:0006538
19 cor pulmonale 31 HP:0001648
20 elevated sweat chloride 31 HP:0012236
21 meconium ileus 31 HP:0004401

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

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

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

Abdomen Pancreas:
pancreatic insufficiency in 80%

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

Abdomen Biliary Tract:
biliary cirrhosis

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

Cardiovascular Heart:
cor pulmonale

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

Clinical features from OMIM:

219700

UMLS symptoms related to Cystic Fibrosis:


hemoptysis, snoring, coughing

MGI Mouse Phenotypes related to Cystic Fibrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 CFTR CLCA1 DCTN4 DNASE1 EPHX1 MBL2
Sources

Drugs & Therapeutics for Cystic Fibrosis

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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 544)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
3
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
4
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
5
Methadone Approved Phase 4 76-99-3 4095
6
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
7
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
8
Aztreonam Approved Phase 4 78110-38-0 5362041 5742832
9
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
10
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
11
Insulin glargine Approved Phase 4 160337-95-1
12
Avibactam Approved Phase 4 1192500-31-4
13
Altretamine Approved Phase 4 645-05-6 2123
14
Fosfomycin Approved Phase 4 23155-02-4 446987
15
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
16
Telavancin Approved Phase 4 372151-71-8
17
Tedizolid phosphate Approved Phase 4 856867-55-5
18
Tedizolid Approved, Investigational Phase 4 856866-72-3
19
Theophylline Approved Phase 4 58-55-9 2153
20
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
21
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
22
Tamoxifen Approved Phase 4 10540-29-1 2733526
23
Sage Approved Phase 4
24
Atorvastatin Approved Phase 4 134523-00-5 60823
25
Colistin Approved Phase 4 1066-17-7, 1264-72-8 5311054
26
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
27
Ivacaftor Approved Phase 4 873054-44-5 16220172
28
Denosumab Approved Phase 4 615258-40-7
29
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
30
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
31
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
32
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
33
Ceftazidime Approved Phase 4 72558-82-8, 78439-06-2 5481173
34
Omalizumab Approved, Investigational Phase 4 242138-07-4
35
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
36
Piperacillin Approved Phase 4 66258-76-2 43672
37
Tazobactam Approved Phase 4 89786-04-9 123630
38
Mycophenolic acid Approved Phase 4 24280-93-1 446541
39
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
40
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
41
Memantine Approved, Investigational Phase 4 19982-08-2 4054
42
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
43
Histamine Approved, Investigational Phase 4 51-45-6 774
44
Cyproheptadine Approved Phase 4 129-03-3 2913
45
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
46
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
47
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
48
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
49
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
50
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795

Interventional clinical trials:

(show top 50) (show all 1426)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 Airway Infection, Inflammatory Markers and Exercise Capacity in Patients With Cystic Fibrosis and at Least One G551D Mutation Taking VX770 (Ivacaftor) Unknown status NCT01937325 Phase 4 ivacaftor;placebo
6 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
7 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
8 Aerosolized Antibiotics in the Treatment of Ventilator Associated Pneumonia: A Pilot Study Unknown status NCT02478710 Phase 4 Aerosolized Tobramycin or Vancomycin;Aerosolized Placebo
9 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms: A Randomized, Double-Blind, Placebo-Controlled Trial Unknown status NCT00866866 Phase 4 N-Acetyl Cysteine;Placebo
10 Evaluation Whether Higher Retention Rate is in Those of Combined Methadone With N-Acetyl-Cysteine Compared to Those With Methadone Alone During a Six-month Study Unknown status NCT01047956 Phase 4 Methadone; NAC;Methadone
11 Comparison of the Efficacy of Triple Therapy With or Without Acetylcysteine in the First Line of Helicobacter Pylori Infection- A Multicenter Randomized Comparative Trial Unknown status NCT02249546 Phase 4 N-acetylcysteine + PPI-amoxicillin-clarithromycin;PPI-amoxicillin-clarithromycin
12 Impact of Backpack Position on Lung Function and Oxygen Consumption in School-aged Children With Cystic Fibrosis Completed NCT02700282 Phase 4
13 A Comparison of Five Airway Clearance Techniques in the Treatment of Adults With Cystic Fibrosis Completed NCT00890370 Phase 4
14 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
15 Treatment of Aspergillus Fumigatus in Patients With Cystic Fibrosis: A Randomized, Double-blind, Placebo-Controlled Trial Completed NCT00528190 Phase 4 Itraconazole
16 Tobramycin 300 mg o.d. Aerosol in in Adult Patients With Cystic Fibrosis: Pilot Study on Antimicrobial Activity Completed NCT01608555 Phase 4 tobramycin
17 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
18 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
19 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
20 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
21 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in CF Completed NCT02504827 Phase 4 Ceftazidime/avibactam
22 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
23 Vehicles for the Absorption of Vitamin D in Cystic Fibrosis: Comparison of Powder vs Oil Completed NCT01880346 Phase 4
24 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis (CRITIC) A Randomized Pharmacokinetic Comparison of Tobramycin in Cystic Fibrosis Completed NCT01207245 Phase 4
25 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
26 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
27 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
28 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
29 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
30 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
31 Comparison of the Airway Clearance Efficacy of Electro Flo 5000 and Vest Therapy in Completed NCT02277626 Phase 4
32 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
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 Pharmacokinetics and Tolerability of Telavancin at Differing Dosing Regimens in Cystic Fibrosis Adults Admitted With Acute Pulmonary Exacerbations Completed NCT03172793 Phase 4 Telavancin Injection
35 Steady-State Pharmacokinetics of Tedizolid in Plasma and Sputum of Patients With Cystic Fibrosis Completed NCT02444234 Phase 4 Tedizolid PO;Tedizolid IV
36 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®]
37 Randomized, Placebo-controlled Trial on the Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
38 RhDNase Effect on Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
39 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
40 Pilot Study of Dornase Alfa (Pulmozyme) Therapy for Acquired Ventilator Associated Infection in Preterm and Late Preterm Infants in the Neonatal Intensive Care Unit Completed NCT01356147 Phase 4 Dornase alfa;Placebo
41 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
42 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
43 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)
44 Comparison of Sine Waveform High Frequency Chest Wall Oscillation Using Different Settings in Cystic Fibrosis Completed NCT00685035 Phase 4
45 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
46 Clinical Efficacy and Safety of Theophylline in the Treatment of Non-Cystic Fibrosis(NCF) Bronchiectasis Completed NCT01684683 Phase 4 Theophylline;Placebo(for Theophylline)
47 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
48 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
49 Treatment of Clogged Tympanostomy Tubes: An Off-Label Use of Dornase Alfa (Pulmozyme®) Completed NCT00419380 Phase 4 dornase alfa (Pulmozyme®)
50 MALABSORPTION BLOOD TEST: Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4

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: 21658631 20801416

Cochrane evidence based reviews: cystic fibrosis

Sources

Genetic Tests for Cystic Fibrosis

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Genetic tests related to Cystic Fibrosis:

# Genetic test Affiliating Genes
1 Cystic Fibrosis 29 CFTR FCGR2A TGFB1
Sources

Anatomical Context for Cystic Fibrosis

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MalaCards organs/tissues related to Cystic Fibrosis:

40
Lung, Testes, Pancreas, Liver, Colon, Bone, Neutrophil
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
Sources

Publications for Cystic Fibrosis

About this section

Articles related to Cystic Fibrosis:

(show top 50) (show all 31611)
# Title Authors PMID Year
1
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 61 56 6
25981758 2015
2
Drug bests cystic-fibrosis mutation. 61 56 6
22318583 2012
3
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. 61 56 6
18424453 2008
4
Complex two-gene modulation of lung disease severity in children with cystic fibrosis. 61 56 6
18292811 2008
5
Genetic modifiers of lung disease in cystic fibrosis. 61 56 6
16207846 2005
6
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. 61 56 6
15367919 2005
7
A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. 61 56 6
12503104 2003
8
Is the spectrum of mutations in Indian patients with cystic fibrosis different? 61 56 6
10869121 2000
9
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. 61 56 6
9683582 1998
10
The diagnosis of cystic fibrosis. 61 56 6
9017943 1997
11
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. 61 56 6
9003498 1997
12
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. 61 56 6
1384328 1992
13
Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. 61 56 6
1518030 1992
14
Detection of over 98% cystic fibrosis mutations in a Celtic population. 61 56 6
1284639 1992
15
A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. 61 56 6
1284468 1992
16
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. 61 56 6
1715308 1991
17
Association of less common cystic fibrosis mutations with a mild phenotype. 61 56 6
1999830 1991
18
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 56 6
22981120 2012
19
Could a defective epithelial sodium channel lead to bronchiectasis. 56 6
18507830 2008
20
A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. 56 6
10777364 2000
21
Double mutant alleles: are they rare? 56 6
8528204 1995
22
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). 56 6
2210767 1990
23
Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. 54 61 56
17158822 2007
24
Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 54 61 56
12167682 2002
25
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. 54 61 56
11333866 2001
26
Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis. 54 61 56
10866448 2000
27
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. 54 61 6
10652351 2000
28
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. 54 61 56
10449435 1999
29
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. 54 61 56
9725921 1998
30
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 54 61 56
9654209 1998
31
A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. 54 61 56
7544439 1995
32
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. 54 61 6
1380673 1992
33
Regulation of plasma membrane recycling by CFTR. 54 61 56
1373908 1992
34
A preliminary study of aerosolized recombinant human deoxyribonuclease I in the treatment of cystic fibrosis. 54 61 56
1538726 1992
35
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. 54 61 6
2210768 1990
36
Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis. 61 6
31136843 2019
37
Small-molecule ion channels increase host defences in cystic fibrosis airway epithelia. 61 56
30867598 2019
38
Characterization of Δ(G970-T1122)-CFTR, the most frequent CFTR mutant identified in Japanese cystic fibrosis patients. 61 6
29951967 2019
39
Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis. 61 56
29099333 2017
40
Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del. 61 56
29099344 2017
41
∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. 61 6
26618866 2015
42
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 61 6
25431289 2014
43
Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis. 61 56
25124441 2014
44
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 61 6
24014130 2014
45
Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis. 61 6
22572733 2012
46
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 61 56
22772370 2012
47
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. 61 6
22047557 2011
48
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 61 6
21422883 2011
49
Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia. 61 56
21145458 2010
50
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. 61 6
21083385 2010
Sources

Variations for Cystic Fibrosis

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ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 1465) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFTR NM_000492.3(CFTR):c.3963+1G>ASNV Pathogenic 161996 rs672601314 7:117292986-117292986 7:117652932-117652932
2 CFTR NM_000492.3(CFTR):c.830G>A (p.Trp277Ter)SNV Pathogenic 162000 rs672601317 7:117176688-117176688 7:117536634-117536634
3 CFTR NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter)SNV Pathogenic 161999 rs672601316 7:117232664-117232664 7:117592610-117592610
4 CFTR NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys)SNV Pathogenic 161997 rs672601315 7:117243628-117243628 7:117603574-117603574
5 CFTR NM_000492.3(CFTR):c.850dup (p.Met284fs)duplication Pathogenic 189095 rs786204693 7:117176702-117176703 7:117536648-117536649
6 CFTR NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs)duplication Pathogenic 188958 rs397508189 7:117188810-117188811 7:117548756-117548757
7 CFTR NM_000492.3(CFTR):c.3368-2A>GSNV Pathogenic 188783 rs755416052 7:117254665-117254665 7:117614611-117614611
8 CFTR NM_000492.3(CFTR):c.1365_1366del (p.Val456fs)deletion Pathogenic 209061 rs797045161 7:117188850-117188851 7:117548796-117548797
9 CFTR NM_000492.3(CFTR):c.2424_2425insATshort repeat Pathogenic 209046 rs387906359 7:117232637-117232638 7:117592583-117592584
10 CFTR NM_000492.3(CFTR):c.2658-1G>CSNV Pathogenic 209045 rs397508416 7:117243585-117243585 7:117603531-117603531
11 CFTR NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter)SNV Pathogenic 209057 rs397508533 7:117251789-117251789 7:117611735-117611735
12 CFTR NM_000492.3(CFTR):c.3747del (p.Lys1250fs)deletion Pathogenic 209056 rs797045159 7:117282519-117282519 7:117642465-117642465
13 CFTR NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)deldeletion Pathogenic 209048
14 CFTR NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)deldeletion Pathogenic 209050
15 CFTR NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)deldeletion Pathogenic 209051
16 CFTR NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)deldeletion Pathogenic 209052
17 CFTR NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dupduplication Pathogenic 209053
18 CFTR NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)deldeletion Pathogenic 209055
19 CFTR NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)deldeletion Pathogenic 209060
20 CFTR NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)deldeletion Pathogenic 209063
21 CFTR NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)deldeletion Pathogenic 209064
22 CFTR NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)deldeletion Pathogenic 209065
23 CFTR NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)deldeletion Pathogenic 209067
24 CFTR NM_000492.3(CFTR):c.350G>A (p.Arg117His)SNV Pathogenic 7109 rs78655421 7:117171029-117171029 7:117530975-117530975
25 CFTR NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro)SNV Pathogenic 7110 rs77932196 7:117180324-117180324 7:117540270-117540270
26 CFTR NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu)SNV Pathogenic 7111 rs74551128 7:117188849-117188849 7:117548795-117548795
27 CFTR NM_000492.3(CFTR):c.1585-1G>ASNV Pathogenic 7112 rs76713772 7:117227792-117227792 7:117587738-117587738
28 CFTR NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr)SNV Pathogenic 7113 rs80055610 7:117227887-117227887 7:117587833-117587833
29 CFTR NM_000492.3(CFTR):c.1687T>A (p.Tyr563Asn)SNV Pathogenic 7114 rs121909006 7:117230414-117230414 7:117590360-117590360
30 CFTR NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter)SNV Pathogenic 7115 rs113993959 7:117227832-117227832 7:117587778-117587778
31 CFTR NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn)SNV Pathogenic,drug response 7116 rs121908755 7:117227854-117227854 7:117587800-117587800
32 CFTR NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile)SNV Pathogenic 7117 rs121908755 7:117227854-117227854 7:117587800-117587800
33 CFTR NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg)SNV Pathogenic,drug response 40190 rs121909005 7:117227855-117227855 7:117587801-117587801
34 CFTR NM_000492.3(CFTR):c.1721C>A (p.Pro574His)SNV Pathogenic 7119 rs121908758 7:117230448-117230448 7:117590394-117590394
35 CFTR NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)SNV Pathogenic 7120 rs75527207 7:117227860-117227860 7:117587806-117587806
36 CFTR NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter)SNV Pathogenic 7122 rs74597325 7:117227865-117227865 7:117587811-117587811
37 CFTR NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr)SNV Pathogenic 7123 rs75549581 7:117227883-117227883 7:117587829-117587829
38 CFTR NM_000492.3(CFTR):c.3659delCdeletion Pathogenic 7124 rs121908811 7:117267766-117267766 7:117627712-117627712
39 CFTR NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter)SNV Pathogenic 7125 rs76649725 7:117282538-117282538 7:117642484-117642484
40 CFTR NM_000492.3(CFTR):c.424del (p.Ile142fs)deletion Pathogenic 7146 rs387906363 7:117171103-117171103 7:117531049-117531049
41 CFTR NM_000492.3(CFTR):c.1117-1G>ASNV Pathogenic 209059 rs797045160 7:117182069-117182069 7:117542015-117542015
42 CFTR NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)deldeletion Pathogenic 209062
43 CFTR NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)deletion Pathogenic 7105 rs113993960 7:117199645-117199647 7:117559591-117559593
44 CFTR NM_000492.3(CFTR):c.1519_1521delATCshort repeat Pathogenic 7106 rs121908745 7:117199641-117199643 7:117559587-117559589
45 CFTR NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter)SNV Pathogenic 7107 rs77101217 7:117199602-117199602 7:117559548-117559548
46 CFTR NM_000492.3(CFTR):c.1373G>T (p.Gly458Val)SNV Pathogenic 7132 rs121909009 7:117188858-117188858 7:117548804-117548804
47 CFTR NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter)SNV Pathogenic 7133 rs121909010 7:117292969-117292969 7:117652915-117652915
48 CFTR NM_000492.3(CFTR):c.1021_1022dupTCshort repeat Pathogenic 7134 rs387906360 7:117180302-117180303 7:117540248-117540249
49 CFTR NM_000492.3(CFTR):c.1081del (p.Trp361fs)deletion Pathogenic 7135 rs387906361 7:117180365-117180365 7:117540311-117540311
50 CFTR NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys)SNV Pathogenic 7136 rs80034486 7:117292931-117292931 7:117652877-117652877

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.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.Tyr301Cys VAR_000142 rs150691494
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:

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

Expression for Cystic Fibrosis

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

Pathways for Cystic Fibrosis

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Pathways related to Cystic Fibrosis according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

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

# Super pathways Score Top Affiliating Genes
1
wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) 22
Show member pathways
 11.98 STX1A SLC9A3R2 SLC9A3R1 CFTR
2
Regulation of CFTR activity (norm and CF) 22
Show member pathways
 11.68 STX1A SLC9A3R2 SLC9A3R1 CFTR
3
Pancreatic secretion 36
11.55 CLCA4 CLCA1 CFTR
4
Staphylococcus aureus infection 36
10.91 PLG MBL2 FCGR2A DEFB1
5
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) 22
10.68 SLC9A3R1 SCNN1A CFTR
6
NO-dependent CFTR activation (normal and CF) 22
10.44 SCNN1A CFTR
Sources

GO Terms for Cystic Fibrosis

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.26 TGFB1 STX1A SLC9A3R2 SLC9A3R1 SCNN1A S100A9
2 extracellular space GO:0005615 10.01 TGFB1 SERPINA1 S100A9 S100A8 PLG MBL2
3 extracellular exosome GO:0070062 9.91 SLC9A3R2 SLC9A3R1 SERPINA1 SCNN1A S100A9 S100A8
4 extracellular region GO:0005576 9.7 TGFB1 STX1A SERPINA1 S100A9 S100A8 PLG
5 endomembrane system GO:0012505 9.63 STX1A SLC9A3R2 SLC9A3R1
6 secretory granule GO:0030141 9.61 TGFB1 STX1A CLCA1
7 apical plasma membrane GO:0016324 9.55 SLC9A3R2 SLC9A3R1 SCNN1A CLCA4 CFTR
8 platelet alpha granule lumen GO:0031093 9.54 TGFB1 SERPINA1 PLG
9 microvillus GO:0005902 <