CF
MCID: CYS001
MIFTS: 82

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 58 39 12 77 54 26 60 76 38 30 13 56 6 44 45 15 64 41 74
Mucoviscidosis 58 12 54 26 60 76
Cf 58 12 54 26 60 76
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 58 6
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 58
Cystic Fibrosis Lung Disease, Modifier of 58
Fibrocystic Disease of Pancreas 26
Cystic Fibrosis of Pancreas 26

Characteristics:

Orphanet epidemiological data:

60
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

33
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1485
OMIM 58 219700
KEGG 38 H00218
ICD9CM 36 277.0
MeSH 45 D003550
NCIt 51 C2975
SNOMED-CT 69 85809002
ICD10 34 E84 E84.9
MESH via Orphanet 46 D003550
ICD10 via Orphanet 35 E84.0 E84.1 E84.8 more
UMLS via Orphanet 75 C0010674
Orphanet 60 ORPHA586
MedGen 43 C0010674
UMLS 74 C0010674

Summaries for Cystic Fibrosis

MedlinePlus : 44 Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Cystic Fibrosis, also known as mucoviscidosis, is related to bronchiectasis with or without elevated sweat chloride 1 and bronchiectasis, 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 Ion channel transport. The drugs Cayston and Kalydeco have been mentioned in the context of this disorder. Affiliated tissues include Lung and Lung, and related phenotypes are 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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 : 58 Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). Infertility occurs in males and females. For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400). (219700)

UniProtKB/Swiss-Prot : 76 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 : 64 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 : 77 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 672)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 34.1 CFTR SCNN1B
2 bronchiectasis 33.4 CFTR CXCL8 ELANE SCNN1A SCNN1B SCNN1G
3 meconium ileus 33.3 CFTR CLCA1 GUCY2C
4 pseudohypoaldosteronism, type i, autosomal recessive 32.5 SCNN1A SCNN1B SCNN1G
5 lung disease 32.3 CFTR CXCL8 ELANE TGFB1
6 bronchitis 31.4 CFTR CXCL8 ELANE
7 pulmonary disease, chronic obstructive 31.4 CFTR CLCA1 CXCL8 ELANE TGFB1
8 bacterial infectious disease 31.2 CFTR CXCL8 DEFB1 ELANE
9 acute pancreatitis 31.2 CFTR CXCL8 ELANE
10 pseudohypoaldosteronism 30.8 SCNN1A SCNN1B SCNN1G
11 systemic lupus erythematosus 30.5 DNASE1 ELANE FCGR2A S100A8 S100A9 TGFB1
12 idiopathic bronchiectasis 30.5 CFTR SCNN1A SCNN1B SCNN1G
13 cystic fibrosis, modifier of, 1 12.6
14 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.4
15 cystic fibrosis and congenital absence of the vas deferens 12.2
16 bronchiectasis with or without elevated sweat chloride 2 12.1
17 bronchiectasis with or without elevated sweat chloride 3 12.1
18 vas deferens, congenital bilateral aplasia of 11.7
19 allergic bronchopulmonary aspergillosis 11.6
20 aspergillosis 11.5
21 aquagenic syringeal acrokeratoderma 11.5
22 pancreatitis 11.5
23 exocrine pancreatic insufficiency 11.4
24 respiratory failure 11.4
25 keratomalacia 11.4
26 lubani-al saleh-teebi syndrome 11.4
27 cramp-fasciculation syndrome 11.4
28 shwachman-diamond syndrome 1 11.4
29 nontuberculous mycobacterial lung disease 11.4
30 bile acid synthesis defect, congenital, 2 11.1
31 young syndrome 11.1
32 bartter syndrome, type 3 11.1
33 bile acid synthesis defect, congenital, 1 11.1
34 middle lobe syndrome 11.1
35 mycobacterium avium complex infections 11.1
36 pancreatic ductal adenocarcinoma 10.9
37 liddle syndrome 1 10.6 CFTR SCNN1A SCNN1B SCNN1G
38 liver disease 10.6
39 pseudohypoaldosteronism, type i, autosomal dominant 10.6 SCNN1A SCNN1B SCNN1G
40 stenotrophomonas maltophilia infection 10.6
41 respiratory system disease 10.6 CFTR CXCL8 ELANE TGFB1
42 miliaria rubra 10.6 CFTR SCNN1G
43 miliaria 10.6 CFTR SCNN1G
44 idiopathic interstitial pneumonia 10.6 CXCL8 ELANE TGFB1
45 gastritis 10.6 CXCL8 DEFB1 S100A8
46 mycobacterium abscessus 10.6
47 leukoregulin 10.5 CXCL8 TGFB1
48 bartter syndrome, type 2, antenatal 10.5 SCNN1B SCNN1G
49 intestinal obstruction 10.5
50 alcoholic hepatitis 10.5

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:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
2 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
3 pulmonary fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002206
4 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
5 biliary cirrhosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002613
6 exocrine pancreatic insufficiency 60 33 frequent (33%) Very frequent (99-80%) HP:0001738
7 decreased antibody level in blood 60 33 hallmark (90%) Very frequent (99-80%) HP:0004313
8 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
9 dehydration 33 occasional (7.5%) HP:0001944
10 failure to thrive 33 HP:0001508
11 hypercalciuria 33 HP:0002150
12 asthma 33 HP:0002099
13 recurrent pneumonia 33 HP:0006532
14 rectal prolapse 33 HP:0002035
15 male infertility 33 HP:0003251
16 bronchiectasis 33 HP:0002110
17 recurrent bronchopulmonary infections 33 HP:0006538
18 chronic lung disease 33 HP:0006528
19 cor pulmonale 33 HP:0001648
20 elevated sweat chloride 33 HP:0012236
21 meconium ileus 33 HP:0004401

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 CFTR CLCA1 DNAJC5 DNASE1 ELANE GUCY2C
2 digestive/alimentary MP:0005381 9.7 CFTR GUCY2C SCNN1A SCNN1B SCNN1G SLC9A3R1
3 mortality/aging MP:0010768 9.47 CFTR DNAJC5 DNASE1 ELANE FCGR2A GUCY2C

Drugs & Therapeutics for Cystic Fibrosis

PubMedHealth treatment related to Cystic Fibrosis: 64

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

FDA approved drugs:

# Drug Name Active Ingredient(s) 19 Company Approval Date
1
Cayston 19 AZTREONAM Gilead February 2010
2
Kalydeco 19 IVACAFTOR Vertex Pharmaceuticals January of 2012
3
Orkambi 19 IVACAFTOR; LUMACAFTOR Vertex Pharmaceuticals July 2015
4
Pulmozyme 19 DORNASE ALFA Genentech December 1996|March 1998
5
Tobi 19 TOBRAMYCIN PathoGenesis December 1997

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

(show top 50) (show all 515)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
2
Meropenem Approved, Investigational Phase 4,Not Applicable 119478-56-7, 96036-03-2 441130 64778
3
Piperacillin Approved Phase 4,Not Applicable 66258-76-2 43672
4
Ceftazidime Approved Phase 4,Phase 1,Not Applicable 72558-82-8, 78439-06-2 5481173
5
Ticarcillin Approved, Investigational, Vet_approved Phase 4,Not Applicable 34787-01-4 36921
6
Tazobactam Approved Phase 4,Not Applicable 89786-04-9 123630
7
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 32986-56-4 36294 5496
8
Ivacaftor Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 873054-44-5 16220172
9
Acetylcysteine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 616-91-1 12035
10
Azithromycin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83905-01-5 447043 55185
11
Pancrelipase Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 53608-75-6
12
Insulin glargine Approved Phase 4,Phase 3 160337-95-1
13
Aztreonam Approved Phase 4,Phase 3,Phase 2,Not Applicable 78110-38-0 5742832 5362041
14
Colistin Approved Phase 4,Phase 3,Phase 2,Phase 1 1066-17-7, 1264-72-8 5311054
15
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 85721-33-1 2764
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
17
Itraconazole Approved, Investigational Phase 4,Phase 2,Phase 1 84625-61-6 55283
18
Tedizolid phosphate Approved Phase 4 856867-55-5
19
Tedizolid Approved, Investigational Phase 4 856866-72-3
20
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 564-25-0 54671203
21
Altretamine Approved Phase 4,Phase 1 645-05-6 2123
22
Ceftolozane Approved, Investigational Phase 4 689293-68-3
23
Alendronate Approved Phase 4,Phase 3,Not Applicable 66376-36-1, 121268-17-5 2088
24
Avibactam Approved Phase 4 1192500-31-4
25
Nicotine Approved Phase 4 54-11-5 89594 942
26
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
27
Tamoxifen Approved Phase 4 10540-29-1 2733526
28
Iron Approved, Experimental Phase 4,Not Applicable 7439-89-6, 15438-31-0 27284 23925
29
Fosfomycin Approved Phase 4,Phase 2 23155-02-4 446987
30
Rifampicin Approved Phase 4,Phase 2,Phase 1,Not Applicable 13292-46-1 5381226 5458213
31
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
32
Polyestradiol phosphate Approved Phase 4,Phase 1,Not Applicable 28014-46-2
33
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 50-28-2 5757
34
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
35
Telavancin Approved Phase 4 372151-71-8
36
Denosumab Approved Phase 4 615258-40-7
37
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
38
Omalizumab Approved, Investigational Phase 4 242138-07-4
39
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
40
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 67-97-0 5280795 6221
41
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2
42
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
43
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 50-14-6 5280793
44
Serine Approved, Nutraceutical Phase 4,Phase 2,Phase 1 56-45-1 5951
45 beta-Lactamase Inhibitors Phase 4,Not Applicable
46 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 beta-Lactams Phase 4
48 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Lactams Phase 4
50 Antitubercular Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1187)
# Name Status NCT ID Phase Drugs
1 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
2 A Study Comparing Continuous Infusion Antibiotics to Standard Treatment for Lung Infections 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
3 Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis Unknown status NCT01044719 Phase 4 Ceftazidime;Tobramycin;Meropenem
4 CPET in CF Patients With One G551D Mutation Taking VX770 Unknown status NCT01937325 Phase 4 ivacaftor;placebo
5 A Clinical Study on the Efficacy and Safety of the Treatment of Hyperplasia of Mammary Glands With Xiaoru Sanjie Capsule Unknown status NCT02929420 Phase 4 Xiaoru Sanjie capsules;Xiao Yao pills
6 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms Unknown status NCT00866866 Phase 4 N-Acetyl Cysteine;Placebo
7 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
8 Backpack Carrying in Children With Cystic Fibrosis Completed NCT02700282 Phase 4
9 Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination Completed NCT01499914 Phase 4
10 Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis Completed NCT01608555 Phase 4 tobramycin
11 Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis Completed NCT01400750 Phase 4 oral ciprofloxacin plus inhaled colistin;TOBI
12 Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis Completed NCT01377792 Phase 4 Hypertonic saline
13 RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
14 Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? Completed NCT00890370 Phase 4
15 Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis Completed NCT00528190 Phase 4 Itraconazole
16 Effect of Lactobacillus Reuteri in Cystic Fibrosis Completed NCT01737983 Phase 4
17 Comparison of Absorption of Vitamin D in Cystic Fibrosis Completed NCT01880346 Phase 4
18 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis Completed NCT01207245 Phase 4
19 Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis Completed NCT02444234 Phase 4 Tedizolid PO/IV;Tedizolid IV/PO
20 The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
21 Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa Completed NCT00431964 Phase 4 azithromycin 250 mg tablets;placebo tablets
22 Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings Completed NCT00685035 Phase 4
23 Doxycycline Effects on Inflammation in Cystic Fibrosis Completed NCT01323101 Phase 4 Doxycycline
24 Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children Completed NCT01429259 Phase 4 meropenem
25 A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis Completed NCT01712334 Phase 4 dornase alfa [Pulmozyme®];dornase alfa [Pulmozyme®]
26 Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis Completed NCT01519661 Phase 4 TBM100
27 Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
28 Scandinavian Cystic Fibrosis Azithromycin Study Completed NCT00411736 Phase 4 Study medication, azithromycin or placebo;Azithromycin or placebo tablets
29 A Study of the Effects of Lumacaftor/Ivacaftor on Exercise Tolerance in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Completed NCT02875366 Phase 4 LUM/IVA;Placebo
30 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
31 PTC Study to Evaluate Ataluren in Combination With Ivacaftor Completed NCT03256968 Phase 4 Ataluren
32 Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Completed NCT02421120 Phase 4 Ceftolozane/Tazobactam
33 Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients Completed NCT00157690 Phase 4 Alendronate;Placebo
34 Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients Completed NCT02178540 Phase 4 Placebo
35 Ease of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI) Completed NCT01844778 Phase 4 Tobramycin Inhalation Powder;Tobramycin inhalation solution;Colistimethate
36 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis Completed NCT02504827 Phase 4 Ceftazidime/avibactam
37 Evaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations Completed NCT03256799 Phase 4 Ivacaftor
38 One Year Glargine Treatment in CFRD Children and Adolescents Completed NCT00483769 Phase 4 Glargine
39 PR-018: An Open-Label, Safety Extension of Study PR-011 Completed NCT01131507 Phase 4 EUR-1008 (APT-1008)
40 A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age Completed NCT01100606 Phase 4 EUR-1008 (APT-1008);EUR-1008 (APT-1008)
41 EASY: Extended Access to Sollpura Over Years Completed NCT02823964 Phase 4 Liprotamase
42 Human Factors Study to Validate the User Interface of TOBI Podhaler Using Placebo Capsules Completed NCT03502070 Phase 4 Placebo
43 Clinical Study With an Enteral Formula With Symbiotic and DHA for Malnourished Children Completed NCT02128984 Phase 4
44 Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
45 Electro Flo 5000 and Vest Therapy Completed NCT02277626 Phase 4
46 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
47 Ext. Long-term Safety Study in CF Patients: Single Arm TIP Completed NCT01775137 Phase 4 TBM100
48 Dornase Alfa Therapy for Ventilator Associated Lung Infections in the Neonatal Intensive Care Unit (NICU) Completed NCT01356147 Phase 4 Dornase alfa;Placebo
49 Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease Completed NCT00639236 Phase 4
50 Azithromycin for Children Hospitalized With Asthma Completed NCT02003911 Phase 4 Azithromycin;Placebo

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: cystic fibrosis

Genetic Tests for Cystic Fibrosis

Genetic tests related to Cystic Fibrosis:

# Genetic test Affiliating Genes
1 Cystic Fibrosis 30 CFTR FCGR2A TGFB1

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

42
Lung, Testes, Liver, Pancreas, 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 Respiratory Bronchioles Basal Cells Potential therapeutic candidate
2 Lung Respiratory Bronchioles Cilliated Cells Affected by disease, potential therapeutic candidate
3 Lung Submucosal Glands Affected by disease

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

(show top 50) (show all 11141)
# Title Authors Year
1
Impact of Surgery on Growth, Pulmonary Functions, and Acute Pulmonary Exacerbations in Children with Non-Cystic Fibrosis Bronchiectasis. ( 29232734 )
2019
2
Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study. ( 30230364 )
2019
3
Azithromycin or erythromycin? Macrolides for non-cystic fibrosis bronchiectasis in adults: A systematic review and adjusted indirect treatment comparison. ( 30101613 )
2019
4
Presence of pldA and exoU in mucoid Pseudomonas aeruginosa is associated with high risk of exacerbations in non-cystic fibrosis bronchiectasis patients. ( 30036669 )
2019
5
Adult Cystic Fibrosis: A Possible Cause of Bronchiectasis in COPD Patients. ( 29935777 )
2019
6
Personalised anti-inflammatory therapy for bronchiectasis and cystic fibrosis: selecting patients for controlled trials of neutrophil elastase inhibition. ( 30918898 )
2019
7
Safety and efficacy of the human neutrophil elastase inhibitor BAY 85-8501 for the treatment of non-cystic fibrosis bronchiectasis: a randomized controlled trial. ( 30917927 )
2019
8
Ciprofloxacin Dry Powder for Inhalation: Inspiratory Flow in Patients with Non-cystic Fibrosis Bronchiectasis. ( 30848695 )
2019
9
Oxygen desaturation during the 6-min walk test as a risk for osteoporosis in non-cystic fibrosis bronchiectasis. ( 30717716 )
2019
10
An evaluation of methods for the isolation of nontuberculous mycobacteria from patients with cystic fibrosis, bronchiectasis and patients assessed for lung transplantation. ( 30665395 )
2019
11
Inhaled liposomal ciprofloxacin in patients with non-cystic fibrosis bronchiectasis and chronic lung infection with Pseudomonas aeruginosa (ORBIT-3 and ORBIT-4): two phase 3, randomised controlled trials. ( 30658914 )
2019
12
A review of non-cystic fibrosis bronchiectasis in children with a focus on the role of long-term treatment with macrolides. ( 30652424 )
2019
13
A longitudinal characterization of the Non-Cystic Fibrosis Bronchiectasis airway microbiome. ( 31053725 )
2019
14
Incidence of patients with non-cystic fibrosis bronchiectasis in Germany - A healthcare insurance claims data analysis. ( 31047108 )
2019
15
Microbiologic changes observed over 48 weeks of treatment with inhaled liposomal ciprofloxacin in subjects with non-cystic fibrosis bronchiectasis and chronic Pseudomonas aeruginosa lung infection. ( 31035017 )
2019
16
Assessing arthritis in the context of cystic fibrosis. ( 30838784 )
2019
17
Distinct "Immunoallertypes" of Disease and High Frequencies of Sensitization in Non-Cystic Fibrosis Bronchiectasis. ( 30265843 )
2019
18
Mycobacterium talmoniae, a Potential Pulmonary Pathogen Isolated from Multiple Patients with Bronchiectasis in the United States, Including the First Case of Clinical Disease in a Patient with Cystic Fibrosis. ( 30429252 )
2019
19
Cytomegalovirus: an unrecognised potential contributor to cystic fibrosis disease progression? ( 30956206 )
2019
20
Cystic fibrosis: Diagnosis and management - NICE guideline 78. ( 30962150 )
2019
21
Distal intestinal obstructive syndrome (DIOS): a gastrointestinal complication of cystic fibrosis in adults. ( 30963407 )
2019
22
Cystic fibrosis and insulin therapy: a reality check. ( 30964946 )
2019
23
Microbial Metabolites in Cystic Fibrosis: a Target for Future Therapy? ( 30965015 )
2019
24
Is it cystic fibrosis? The challenges of diagnosing cystic fibrosis. ( 30967347 )
2019
25
Differential thermostability and response to cystic fibrosis transmembrane conductance regulator (CFTR) potentiators of human and mouse F508del-CFTR. ( 30969810 )
2019
26
An update on admissions of cystic fibrosis children in the United States based on national databases. ( 30975000 )
2019
27
Cystic fibrosis complicated by cor pulmonale: The first case report in Taiwan. ( 30975615 )
2019
28
Reply - Cystic fibrosis complicated by cor pulmonale: The first case report in Taiwan. ( 30975616 )
2019
29
Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature. ( 30979466 )
2019
30
Challenges with optimizing nutrition in cystic fibrosis. ( 31094240 )
2019
31
Question 13: Can we predict the need for lung transplantation in children with cystic fibrosis? ( 30987796 )
2019
32
Mucin binding to therapeutic molecules: The case of antimicrobial agents used in cystic fibrosis. ( 30991132 )
2019
33
Cystic Fibrosis Rapid Response: Translating Multi-omics Data into Clinically Relevant Information. ( 30992350 )
2019
34
A glycopolymer improves vascoelasticity and mucociliary transport of abnormal cystic fibrosis mucus. ( 30996141 )
2019
35
Evaluation of bone disease in patients with cystic fibrosis and end-stage lung disease. ( 30843951 )
2019
36
Roles, Actions, and Therapeutic Potential of Specialized Pro-resolving Lipid Mediators for the Treatment of Inflammation in Cystic Fibrosis. ( 31001110 )
2019
37
Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy. ( 31005549 )
2019
38
Impact of CFTR-modulating drugs on GH-IGF-1 axis impairment in adult patients with cystic fibrosis. ( 31006073 )
2019
39
Sustained Glycemic Control With Ivacaftor in Cystic Fibrosis-Related Diabetes. ( 31010313 )
2019
40
Ready-to-Use Supplemental Food for Nutritional Supplementation in Cystic Fibrosis. ( 31011716 )
2019
41
SPLUNC1 Loses its Antimicrobial Activity in Acidic Cystic Fibrosis Airway Secretions. ( 31013116 )
2019
42
The value of high-resolution computed tomography (HRCT) to determine exercise ventilatory inefficiency and dynamic hyperinflation in adult patients with cystic fibrosis. ( 31014329 )
2019
43
Intestinal organoids to model Cystic Fibrosis. ( 31023844 )
2019
44
Impact of Intermediate Cystic Fibrosis Classification on Parents' Perceptions of Child Vulnerability and Protectiveness. ( 31027440 )
2019
45
Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition. ( 31027826 )
2019
46
A Review on the Use of Cystic Fibrosis Transmembrane Conductance Regulator Gene Modulators in Pediatric Patients. ( 31029283 )
2019
47
Modulation of glucose-related metabolic pathways controls glucose level in airway surface liquid and fight oxidative stress in cystic fibrosis cells. ( 31030390 )
2019
48
Efficacy of model-based iterative reconstruction in cystic fibrosis assessment using CT. ( 31036312 )
2019
49
One year prospective survey of azole resistance in Aspergillus fumigatus at a French cystic fibrosis reference centre: prevalence and mechanisms of resistance. ( 31038164 )
2019
50
Applications of lung clearance index in monitoring children with cystic fibrosis. ( 31041164 )
2019

Variations for Cystic Fibrosis

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

76 (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

ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 2766)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.3848G> T (p.Arg1283Met) single nucleotide variant Pathogenic rs77902683 GRCh38 Chromosome 7, 117642568: 117642568
2 CFTR NM_000492.3(CFTR): c.1766+1G> A single nucleotide variant Pathogenic rs121908748 GRCh37 Chromosome 7, 117230494: 117230494
3 CFTR NM_000492.3(CFTR): c.1766+1G> A single nucleotide variant Pathogenic rs121908748 GRCh38 Chromosome 7, 117590440: 117590440
4 CFTR NM_000492.3(CFTR): c.1075C> A (p.Gln359Lys) single nucleotide variant no interpretation for the single variant rs76879328 GRCh37 Chromosome 7, 117180359: 117180359
5 CFTR NM_000492.3(CFTR): c.1075C> A (p.Gln359Lys) single nucleotide variant no interpretation for the single variant rs76879328 GRCh38 Chromosome 7, 117540305: 117540305
6 CFTR NM_000492.3(CFTR): c.744-14_744-3delTGATTGATTTAC deletion Pathogenic rs387906367 GRCh37 Chromosome 7, 117176588: 117176599
7 CFTR NM_000492.3(CFTR): c.744-14_744-3delTGATTGATTTAC deletion Pathogenic rs387906367 GRCh38 Chromosome 7, 117536534: 117536545
8 CFTR NM_000492.3(CFTR): c.1040G> T (p.Arg347Leu) single nucleotide variant Pathogenic rs77932196 GRCh37 Chromosome 7, 117180324: 117180324
9 CFTR NM_000492.3(CFTR): c.3718-1G> A single nucleotide variant Pathogenic rs387906369 GRCh37 Chromosome 7, 117282491: 117282491
10 CFTR NM_000492.3(CFTR): c.3718-1G> A single nucleotide variant Pathogenic rs387906369 GRCh38 Chromosome 7, 117642437: 117642437
11 CFTR NM_000492.3(CFTR): c.3767dupC (p.Leu1258Phefs) duplication Pathogenic rs387906370 GRCh37 Chromosome 7, 117282541: 117282541
12 CFTR NM_000492.3(CFTR): c.3767dupC (p.Leu1258Phefs) duplication Pathogenic rs387906370 GRCh38 Chromosome 7, 117642487: 117642487
13 CFTR NM_000492.3(CFTR): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs121909025 GRCh37 Chromosome 7, 117149094: 117149094
14 CFTR NM_000492.3(CFTR): c.3937C> T (p.Gln1313Ter) single nucleotide variant Pathogenic rs121909026 GRCh38 Chromosome 7, 117652905: 117652905
15 CFTR NM_000492.3(CFTR): c.274G> A (p.Glu92Lys) single nucleotide variant Pathogenic rs121908751 GRCh37 Chromosome 7, 117170953: 117170953
16 CFTR NM_000492.3(CFTR): c.274G> A (p.Glu92Lys) single nucleotide variant Pathogenic rs121908751 GRCh38 Chromosome 7, 117530899: 117530899
17 CFTR NM_000492.3(CFTR): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic,drug response rs77932196 GRCh37 Chromosome 7, 117180324: 117180324
18 CFTR NM_000492.3(CFTR): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic,drug response rs77932196 GRCh38 Chromosome 7, 117540270: 117540270
19 CFTR NM_000492.3(CFTR): c.271G> A (p.Gly91Arg) single nucleotide variant Pathogenic rs121908750 GRCh37 Chromosome 7, 117149194: 117149194
20 CFTR NM_000492.3(CFTR): c.271G> A (p.Gly91Arg) single nucleotide variant Pathogenic rs121908750 GRCh38 Chromosome 7, 117509140: 117509140
21 CFTR NM_000492.3(CFTR): c.3857T> C (p.Phe1286Ser) single nucleotide variant Pathogenic rs121909028 GRCh37 Chromosome 7, 117282631: 117282631
22 CFTR NM_000492.3(CFTR): c.3857T> C (p.Phe1286Ser) single nucleotide variant Pathogenic rs121909028 GRCh38 Chromosome 7, 117642577: 117642577
23 CFTR NM_000492.3(CFTR): c.2175dup (p.Glu726Argfs) duplication Pathogenic rs746418935 GRCh37 Chromosome 7, 117232396: 117232396
24 CFTR NM_000492.3(CFTR): c.2175dup (p.Glu726Argfs) duplication Pathogenic rs746418935 GRCh38 Chromosome 7, 117592342: 117592342
25 CFTR NM_000492.3(CFTR): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121908751 GRCh37 Chromosome 7, 117170953: 117170953
26 CFTR NM_000492.3(CFTR): c.274G> T (p.Glu92Ter) single nucleotide variant Pathogenic rs121908751 GRCh38 Chromosome 7, 117530899: 117530899
27 CFTR NM_000492.3(CFTR): c.459_476delAATAGCTATGTTTAGTTT (p.Ala155_Ile160del) deletion Pathogenic rs387906371 GRCh37 Chromosome 7, 117171138: 117171155
28 CFTR NM_000492.3(CFTR): c.459_476delAATAGCTATGTTTAGTTT (p.Ala155_Ile160del) deletion Pathogenic rs387906371 GRCh38 Chromosome 7, 117531084: 117531101
29 CFTR CFTR, GLN524HIS single nucleotide variant Pathogenic
30 CFTR NM_000492.3(CFTR): c.1013C> T (p.Thr338Ile) single nucleotide variant Pathogenic rs77409459 GRCh37 Chromosome 7, 117180297: 117180297
31 CFTR NM_000492.3(CFTR): c.1013C> T (p.Thr338Ile) single nucleotide variant Pathogenic rs77409459 GRCh38 Chromosome 7, 117540243: 117540243
32 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh37 Chromosome 7, 117251761: 117251761
33 CFTR NM_000492.3(CFTR): c.1666A> G (p.Ile556Val) single nucleotide variant Conflicting interpretations of pathogenicity rs75789129 GRCh38 Chromosome 7, 117587820: 117587820
34 CFTR NM_000492.3(CFTR): c.326A> G (p.Tyr109Cys) single nucleotide variant Pathogenic rs121909031 GRCh37 Chromosome 7, 117171005: 117171005
35 CFTR NM_000492.3(CFTR): c.326A> G (p.Tyr109Cys) single nucleotide variant Pathogenic rs121909031 GRCh38 Chromosome 7, 117530951: 117530951
36 CFTR NM_000492.3(CFTR): c.273+4A> G single nucleotide variant Pathogenic rs387906374 GRCh37 Chromosome 7, 117149200: 117149200
37 CFTR NM_000492.3(CFTR): c.273+4A> G single nucleotide variant Pathogenic rs387906374 GRCh38 Chromosome 7, 117509146: 117509146
38 CFTR NM_000492.3(CFTR): c.1654C> T (p.Gln552Ter) single nucleotide variant Pathogenic rs76554633 GRCh37 Chromosome 7, 117227862: 117227862
39 CFTR NM_000492.3(CFTR): c.1943A> T (p.Asp648Val) single nucleotide variant Pathogenic rs121909033 GRCh38 Chromosome 7, 117592110: 117592110
40 CFTR NM_000492.3(CFTR): c.2128A> T (p.Lys710Ter) single nucleotide variant Pathogenic rs75115087 GRCh37 Chromosome 7, 117232349: 117232349
41 CFTR NM_000492.3(CFTR): c.2128A> T (p.Lys710Ter) single nucleotide variant Pathogenic rs75115087 GRCh38 Chromosome 7, 117592295: 117592295
42 CFTR NM_000492.3(CFTR): c.2668C> T (p.Gln890Ter) single nucleotide variant Pathogenic rs79633941 GRCh37 Chromosome 7, 117243596: 117243596
43 CFTR NM_000492.3(CFTR): c.2668C> T (p.Gln890Ter) single nucleotide variant Pathogenic rs79633941 GRCh38 Chromosome 7, 117603542: 117603542
44 CFTR NM_000492.3(CFTR): c.2735C> T (p.Ser912Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909034 GRCh37 Chromosome 7, 117243663: 117243663
45 CFTR NM_000492.3(CFTR): c.2735C> T (p.Ser912Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909034 GRCh38 Chromosome 7, 117603609: 117603609
46 CFTR NM_000492.3(CFTR): c.805_806delAT (p.Ile269Profs) deletion Pathogenic rs121908773 GRCh37 Chromosome 7, 117176663: 117176664
47 CFTR NM_000492.3(CFTR): c.805_806delAT (p.Ile269Profs) deletion Pathogenic rs121908773 GRCh38 Chromosome 7, 117536609: 117536610
48 CFTR NM_000492.3(CFTR): c.2845C> T (p.His949Tyr) single nucleotide variant Pathogenic rs121909035 GRCh37 Chromosome 7, 117243773: 117243773
49 CFTR NM_000492.3(CFTR): c.2845C> T (p.His949Tyr) single nucleotide variant Pathogenic rs121909035 GRCh38 Chromosome 7, 117603719: 117603719
50 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh37 Chromosome 7, 117251689: 117251689

Copy number variations for Cystic Fibrosis from CNVD:

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

Expression for Cystic Fibrosis

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

Pathways for Cystic Fibrosis

Pathways related to Cystic Fibrosis according to KEGG:

38
# Name Kegg Source Accession
1 ABC transporters hsa02010

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
2
Show member pathways
12.22 CFTR CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
3
Show member pathways
12.08 DEFB1 ELANE S100A8 S100A9
4
Show member pathways
12.04 CFTR CXCL8 S100A8 S100A9
5
Show member pathways
11.78 SCNN1A SCNN1B SCNN1G
6 11.75 CXCL8 FCGR2A TGFB1
7 11.64 CFTR CLCA1 CLCA4
8
Show member pathways
11.6 CFTR CXCL8 TGFB1
9 11.07 SCNN1A SCNN1B SCNN1G
10 10.9 SCNN1A SCNN1B SCNN1G
11 10.57 CFTR SCNN1A SCNN1B SCNN1G SLC9A3R1
12 10.37 CFTR SCNN1A SCNN1B SCNN1G

GO Terms for Cystic Fibrosis

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CFTR CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
2 collagen-containing extracellular matrix GO:0062023 9.76 ELANE S100A8 S100A9 TGFB1
3 microvillus GO:0005902 9.58 CLCA1 SLC9A3R1 TGFB1
4 sperm midpiece GO:0097225 9.48 DEFB1 SLC9A3R1
5 secretory granule GO:0030141 9.46 CLCA1 ELANE STX1A TGFB1
6 apical plasma membrane GO:0016324 9.43 CFTR CLCA4 SCNN1A SCNN1B SCNN1G SLC9A3R1
7 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G
8 plasma membrane GO:0005886 10.1 CFTR CLCA1 CLCA4 DNAJC5 FCGR2A S100A8
9 extracellular exosome GO:0070062 10.02 DEFB1 DNASE1 ELANE S100A8 S100A9 SCNN1A
10 extracellular region GO:0005576 10.02 CLCA1 CLCA4 CXCL8 DEFB1 DNASE1 ELANE

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.99 CFTR CLCA1 SCNN1A SCNN1B SCNN1G
2 neutrophil degranulation GO:0043312 9.93 DNAJC5 ELANE FCGR2A S100A8 S100A9
3 defense response to bacterium GO:0042742 9.87 DEFB1 ELANE S100A8 S100A9
4 chemotaxis GO:0006935 9.8 CXCL8 DEFB1 S100A8 S100A9
5 chloride transmembrane transport GO:1902476 9.75 CFTR CLCA1 CLCA4
6 neutrophil chemotaxis GO:0030593 9.73 CXCL8 S100A8 S100A9
7 chloride transport GO:0006821 9.72 CFTR CLCA4 CLCA1
8 sodium ion transmembrane transport GO:0035725 9.7 SCNN1A SCNN1B SCNN1G
9 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.69 CXCL8 DEFB1 S100A9
10 sensory perception of taste GO:0050909 9.65 SCNN1A SCNN1B SCNN1G
11 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.61 SLC9A3R1 S100A8 S100A9
12 nuclear migration GO:0007097 9.58 DCTN4 SLC9A3R1
13 antimicrobial humoral response GO:0019730 9.56 DEFB1 ELANE S100A8 S100A9
14 defense response to fungus GO:0050832 9.54 ELANE S100A8 S100A9
15 sequestering of zinc ion GO:0032119 9.46 S100A9 S100A8
16 chemokine production GO:0032602 9.4 S100A8 S100A9
17 sodium ion homeostasis GO:0055078 9.33 SCNN1A SCNN1B SCNN1G
18 neutrophil aggregation GO:0070488 9.32 S100A8 S100A9
19 leukocyte migration involved in inflammatory response GO:0002523 9.13 S100A9 S100A8 ELANE
20 multicellular organismal water homeostasis GO:0050891 8.92 SCNN1G SCNN1B SCNN1A CFTR

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.54 CFTR CLCA1 CLCA4
2 intracellular calcium activated chloride channel activity GO:0005229 9.49 CLCA1 CLCA4
3 RAGE receptor binding GO:0050786 9.48 S100A8 S100A9
4 chloride channel inhibitor activity GO:0019869 9.46 CFTR STX1A
5 ATP-dependent protein binding GO:0043008 9.43 DNAJC5 STX1A
6 chloride channel regulator activity GO:0017081 9.4 CFTR SLC9A3R1
7 WW domain binding GO:0050699 9.33 SCNN1A SCNN1B SCNN1G
8 arachidonic acid binding GO:0050544 9.32 S100A8 S100A9
9 Toll-like receptor 4 binding GO:0035662 9.26 S100A8 S100A9
10 protein N-terminus binding GO:0047485 9.26 DCTN4 SLC9A3R1 STX1A TGFB1
11 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1A SCNN1B SCNN1G
12 protein binding GO:0005515 10.41 CFTR CXCL8 DCTN4 DEFB1 DNASE1 ELANE

Sources for Cystic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33