CF
MCID: CYS001
MIFTS: 83

Cystic Fibrosis (CF)

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

Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 57 38 12 76 53 25 59 75 37 29 13 55 6 43 44 15 63 40 73
Mucoviscidosis 57 12 53 25 59 75
Cf 57 12 53 25 59 75
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 57 6
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 57
Cystic Fibrosis Lung Disease, Modifier of 57
Fibrocystic Disease of Pancreas 25
Cystic Fibrosis of Pancreas 25

Characteristics:

Orphanet epidemiological data:

59
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

32
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 219700
Disease Ontology 12 DOID:1485
ICD10 33 E84 E84.9
ICD9CM 35 277.0
MeSH 44 D003550
NCIt 50 C2975
SNOMED-CT 68 85809002
Orphanet 59 ORPHA586
ICD10 via Orphanet 34 E84.0 E84.1 E84.8 more
MESH via Orphanet 45 D003550
UMLS via Orphanet 74 C0010674
MedGen 42 C0010674
KEGG 37 H00218
UMLS 73 C0010674

Summaries for Cystic Fibrosis

MedlinePlus : 43 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 (Cystic Fibrosis 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 hepatomegaly

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 : 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.

NIH Rare Diseases : 53 Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive. Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.

OMIM : 57 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 : 75 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 : 63 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 : 76 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 539)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 33.7 CFTR SCNN1B
2 bronchiectasis 33.0 CFTR CXCL8 ELANE SCNN1A SCNN1B SCNN1G
3 meconium ileus 33.0 CFTR CLCA1 GUCY2C
4 pseudohypoaldosteronism, type i, autosomal recessive 32.2 SCNN1A SCNN1B SCNN1G
5 lung disease 31.8 CFTR CXCL8 ELANE TGFB1
6 pulmonary disease, chronic obstructive 31.0 CFTR CLCA1 CXCL8 ELANE TGFB1
7 bronchitis 31.0 CFTR CXCL8 ELANE
8 acute pancreatitis 30.8 CFTR CXCL8 ELANE
9 bacterial infectious disease 30.7 CFTR CXCL8 DEFB1 ELANE
10 pseudohypoaldosteronism 30.5 SCNN1A SCNN1B SCNN1G
11 inflammatory bowel disease 30.3 CXCL8 DEFB1 ELANE S100A8 S100A9 TGFB1
12 idiopathic bronchiectasis 30.1 CFTR SCNN1A SCNN1B SCNN1G
13 systemic lupus erythematosus 30.0 CXCL8 DNASE1 ELANE FCGR2A S100A8 S100A9
14 cystic fibrosis, modifier of, 1 12.5
15 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.4
16 cystic fibrosis and congenital absence of the vas deferens 12.1
17 bronchiectasis with or without elevated sweat chloride 2 12.0
18 bronchiectasis with or without elevated sweat chloride 3 12.0
19 vas deferens, congenital bilateral aplasia of 11.7
20 allergic bronchopulmonary aspergillosis 11.6
21 aspergillosis 11.5
22 aquagenic syringeal acrokeratoderm 11.5
23 pancreatitis 11.5
24 exocrine pancreatic insufficiency 11.4
25 keratomalacia 11.4
26 lubani-al saleh-teebi syndrome 11.4
27 respiratory failure 11.4
28 cramp-fasciculation syndrome 11.4
29 shwachman-diamond syndrome 1 11.4
30 nontuberculous mycobacterial lung disease 11.3
31 bile acid synthesis defect, congenital, 2 11.0
32 young syndrome 11.0
33 bartter syndrome, type 3 11.0
34 bile acid synthesis defect, congenital, 1 11.0
35 middle lobe syndrome 11.0
36 pancreatic ductal adenocarcinoma 10.8
37 liver disease 10.5
38 mycobacterium abscessus 10.5
39 alcoholic hepatitis 10.5
40 chromophobe renal cell carcinoma 10.5
41 renal oncocytoma 10.5
42 asthma 10.4
43 stenotrophomonas maltophilia infection 10.4
44 liddle syndrome 1 10.4 CFTR SCNN1A SCNN1B SCNN1G
45 pseudohypoaldosteronism, type i, autosomal dominant 10.4 SCNN1A SCNN1B SCNN1G
46 intestinal obstruction 10.4
47 respiratory system disease 10.4 CFTR CXCL8 ELANE TGFB1
48 miliaria rubra 10.4 CFTR SCNN1G
49 primary ciliary dyskinesia 10.4
50 miliaria 10.4 CFTR SCNN1G

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



Diseases related to Cystic Fibrosis

Symptoms & Phenotypes for Cystic Fibrosis

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cystic Fibrosis:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
4 pulmonary fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002206
5 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
6 biliary cirrhosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002613
7 exocrine pancreatic insufficiency 59 32 frequent (33%) Very frequent (99-80%) HP:0001738
8 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
9 failure to thrive 32 HP:0001508
10 dehydration 32 occasional (7.5%) HP:0001944
11 hypercalciuria 32 HP:0002150
12 asthma 32 HP:0002099
13 recurrent pneumonia 32 HP:0006532
14 rectal prolapse 32 HP:0002035
15 male infertility 32 HP:0003251
16 bronchiectasis 32 HP:0002110
17 recurrent bronchopulmonary infections 32 HP:0006538
18 chronic lung disease 32 HP:0006528
19 cor pulmonale 32 HP:0001648
20 elevated sweat chloride 32 HP:0012236
21 meconium ileus 32 HP:0004401

UMLS symptoms related to Cystic Fibrosis:


hemoptysis, snoring, coughing

MGI Mouse Phenotypes related to Cystic Fibrosis:

46
# 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: 63

Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:Preventing and controlling lung 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) 18 Company Approval Date
1
Cayston 18 AZTREONAM Gilead February 2010
2
Kalydeco 18 IVACAFTOR Vertex Pharmaceuticals January of 2012
3
Orkambi 18 IVACAFTOR; LUMACAFTOR Vertex Pharmaceuticals July 2015
4
Pulmozyme 18 DORNASE ALFA Genentech December 1996|March 1998
5
Tobi 18 TOBRAMYCIN PathoGenesis December 1997

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

(show top 50) (show all 497)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meropenem Approved, Investigational Phase 4,Not Applicable 119478-56-7 64778 441130
2
Ceftazidime Approved Phase 4,Phase 1,Not Applicable 78439-06-2, 72558-82-8 5481173
3
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 32986-56-4 36294 5496
4
Ivacaftor Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 873054-44-5 16220172
5
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
6
Azithromycin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83905-01-5 55185 447043
7
Pancrelipase Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 53608-75-6
8
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1
9
Aztreonam Approved Phase 4,Phase 3,Phase 2,Not Applicable 78110-38-0 5362041 5742832
10
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 85721-33-1 2764
11
Colistin Approved Phase 4,Phase 3,Phase 2,Phase 1 1264-72-8, 1066-17-7 5311054
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
13
Itraconazole Approved, Investigational Phase 4,Phase 2,Phase 1 84625-61-6 55283
14
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 564-25-0 54671203
15
Altretamine Approved Phase 4,Phase 1 645-05-6 2123
16
Alendronate Approved Phase 4,Phase 3,Not Applicable 66376-36-1, 121268-17-5 2088
17
Tazobactam Approved Phase 4,Not Applicable 89786-04-9 123630
18 Avibactam Approved Phase 4 1192500-31-4
19
Nicotine Approved Phase 4 54-11-5 942 89594
20
Tamoxifen Approved Phase 4 10540-29-1 2733526
21
Ticarcillin Approved, Investigational, Vet_approved Phase 4,Not Applicable 34787-01-4 36921
22
Piperacillin Approved Phase 4,Not Applicable 66258-76-2 43672
23
Fosfomycin Approved Phase 4,Phase 2 23155-02-4 446987
24
Iron Approved Phase 4,Not Applicable 7439-89-6 23925
25
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 50-28-2 5757
26
Polyestradiol phosphate Approved Phase 4,Phase 1,Not Applicable 28014-46-2
27 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 979-32-8
28
Rifampicin Approved Phase 4,Phase 2,Phase 1,Not Applicable 13292-46-1 5458213 5381226
29
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
30
Telavancin Approved Phase 4 372151-71-8
31
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
32
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
33
Omalizumab Approved, Investigational Phase 4 242138-07-4
34
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
35
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 50-14-6 5280793
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2
37
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 67-97-0 5280795 6221
38
Serine Approved, Nutraceutical Phase 4,Phase 2,Phase 1 56-45-1 5951
39 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Antioxidants Phase 4,Phase 2,Phase 1,Not Applicable
44 Expectorants Phase 4,Phase 3,Phase 2,Phase 1
45 N-monoacetylcystine Phase 4,Phase 2,Phase 1
46 Respiratory System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
47 cysteine Phase 4,Phase 1,Phase 2
48 Free Radical Scavengers Phase 4,Phase 1,Phase 2,Not Applicable
49 Protective Agents Phase 4,Phase 2,Phase 1,Not Applicable
50 Antidotes Phase 4,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1148)
# Name Status NCT ID Phase Drugs
1 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
2 Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis Unknown status NCT01044719 Phase 4 Ceftazidime;Tobramycin;Meropenem
3 CPET in CF Patients With One G551D Mutation Taking VX770 Unknown status NCT01937325 Phase 4 ivacaftor;placebo
4 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
5 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms Unknown status NCT00866866 Phase 4 N-Acetyl Cysteine;Placebo
6 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
7 Backpack Carrying in Children With Cystic Fibrosis Completed NCT02700282 Phase 4
8 Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination Completed NCT01499914 Phase 4
9 Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis Completed NCT01608555 Phase 4 tobramycin
10 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
11 Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis Completed NCT01377792 Phase 4 Hypertonic saline
12 RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
13 Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? Completed NCT00890370 Phase 4
14 Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis Completed NCT00528190 Phase 4 Itraconazole
15 Effect of Lactobacillus Reuteri in Cystic Fibrosis Completed NCT01737983 Phase 4
16 Comparison of Absorption of Vitamin D in Cystic Fibrosis Completed NCT01880346 Phase 4
17 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis Completed NCT01207245 Phase 4
18 Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis Completed NCT02444234 Phase 4 Tedizolid PO/IV;Tedizolid IV/PO
19 The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
20 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
21 Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings Completed NCT00685035 Phase 4
22 Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children Completed NCT01429259 Phase 4 meropenem
23 Doxycycline Effects on Inflammation in Cystic Fibrosis Completed NCT01323101 Phase 4 Doxycycline
24 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®]
25 Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis Completed NCT01519661 Phase 4 TBM100
26 Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
27 Scandinavian Cystic Fibrosis Azithromycin Study Completed NCT00411736 Phase 4 Study medication, azithromycin or placebo;Azithromycin or placebo tablets
28 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
29 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
30 Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients Completed NCT00157690 Phase 4 Alendronate;Placebo
31 Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Completed NCT02421120 Phase 4 Ceftolozane/Tazobactam
32 PTC Study to Evaluate Ataluren in Combination With Ivacaftor Completed NCT03256968 Phase 4 Ataluren
33 Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients Completed NCT02178540 Phase 4 Placebo
34 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
35 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis Completed NCT02504827 Phase 4 Ceftazidime/avibactam
36 Evaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations Completed NCT03256799 Phase 4 Ivacaftor
37 One Year Glargine Treatment in CFRD Children and Adolescents Completed NCT00483769 Phase 4 Glargine
38 PR-018: An Open-Label, Safety Extension of Study PR-011 Completed NCT01131507 Phase 4 EUR-1008 (APT-1008)
39 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)
40 EASY: Extended Access to Sollpura Over Years Completed NCT02823964 Phase 4 Liprotamase
41 Clinical Study With an Enteral Formula With Symbiotic and DHA for Malnourished Children Completed NCT02128984 Phase 4
42 Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
43 Electro Flo 5000 and Vest Therapy Completed NCT02277626 Phase 4
44 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
45 Ext. Long-term Safety Study in CF Patients: Single Arm TIP Completed NCT01775137 Phase 4 TBM100
46 Dornase Alfa Therapy for Ventilator Associated Lung Infections in the Neonatal Intensive Care Unit (NICU) Completed NCT01356147 Phase 4 Dornase alfa;Placebo
47 Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease Completed NCT00639236 Phase 4
48 Azithromycin for Children Hospitalized With Asthma Completed NCT02003911 Phase 4 Azithromycin;Placebo
49 Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer Completed NCT00999921 Phase 4 Tamoxifen;Evening Primrose Oil
50 Pharmacokinetic and Pharmacodynamic Analysis of Ceftaroline in Children and Adolescents With Cystic Fibrosis Recruiting NCT03771313 Phase 4 Ceftaroline

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: cystic fibrosis

Genetic Tests for Cystic Fibrosis

Genetic tests related to Cystic Fibrosis:

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

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

41
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 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 6935)
# Title Authors Year
1
Azithromycin or erythromycin? Macrolides for non-cystic fibrosis bronchiectasis in adults: A systematic review and adjusted indirect treatment comparison. ( 30101613 )
2019
2
A comprehensive evaluation of omega-3 fatty acid supplementation in cystic fibrosis patients using lipidomics. ( 30414540 )
2019
3
Nontuberculous Mycobacterial Infections in Cystic Fibrosis. ( 30454926 )
2019
4
Remarkable progress in cystic fibrosis-But why? ( 30467918 )
2019
5
A novel, noninvasive assay shows that distal airway oxygen tension is low in cystic fibrosis, but not in primary ciliary dyskinesia. ( 30485726 )
2019
6
Three modulator drugs are better than two in cystic fibrosis. ( 30504440 )
2019
7
Prenatal Diagnosis of Cystic Fibrosis. ( 30506201 )
2019
8
Amikacin target achievement in adult cystic fibrosis patients utilizing Monte Carlo simulation. ( 30507069 )
2019
9
Pancreatic Cancer: A Rare Cause of Abdominal Pain in Severe Cystic Fibrosis. ( 30531246 )
2019
10
Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. ( 30291871 )
2019
11
Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis. ( 30341603 )
2019
12
Dynamic Prediction of Survival in Cystic Fibrosis: A Landmarking Analysis Using UK Patient Registry Data. ( 30234550 )
2019
13
Crossover Evaluation of Compressors and Nebulizers Typically Used by Cystic Fibrosis Patients. ( 29432139 )
2018
14
Cytomegalovirus-associated pulmonary exacerbation in patients with cystic fibrosis. ( 29333432 )
2018
15
Chronic infection sustained by a Pseudomonas aeruginosa High-Risk clone producing the VIM-1 metallo-I^-lactamase in a cystic fibrosis patient after lung transplantation. ( 29444761 )
2018
16
High proportion of abnormal pap smear tests and cervical dysplasia in women with cystic fibrosis. ( 29245055 )
2018
17
Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era. ( 29436379 )
2018
18
Pseudomonas pharyngitis in a cystic fibrosis patient. ( 29736241 )
2018
19
Omalizumab in allergic bronchopulmonary aspergillosis in patients with cystic fibrosis. ( 29950869 )
2018
20
<i>Mycobacterium abscessus</i> complex: Natural history and treatment outcomes at a tertiary adult cystic fibrosis center. ( 29900884 )
2018
21
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis. ( 29054758 )
2018
22
First experience in Switzerland in Phe508del homozygous cystic fibrosis patients with end-stage pulmonary disease enrolled in a lumacaftor-ivacaftor therapy trial - preliminary results. ( 29451946 )
2018
23
Attention deficit hyperactivity disorder symptoms in patients with cystic fibrosis. ( 29269187 )
2018
24
Liver disease in patients with cystic fibrosis. ( 29438119 )
2018
25
Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis. ( 29894558 )
2018
26
Prediction of Vancomycin Dose for Recommended Trough Concentrations in Pediatric Patients With Cystic Fibrosis. ( 29319843 )
2018
27
Respiratory exacerbation in a young adult with cystic fibrosis and tricuspid atresia. ( 29619223 )
2018
28
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
29
Chasing Zero: Increasing Infection Control Compliance on an Inpatient Cystic Fibrosis Unit. ( 28658183 )
2018
30
Current and future pharmacotherapy options for non-cystic fibrosis bronchiectasis. ( 29806511 )
2018
31
Reference percentiles of FEV1 for the Canadian cystic fibrosis population: comparisons across time and countries. ( 29434047 )
2018
32
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. ( 29537064 )
2018
33
C3 glomerulopathy in cystic fibrosis: a case report. ( 29592796 )
2018
34
Recent progress in translational cystic fibrosis research using precision medicine strategies. ( 28986017 )
2018
35
RESPIRE 1: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371383 )
2018
36
Expiratory muscle strength and functional exercise tolerance in adults with cystic fibrosis: a cross-sectional study. ( 29943880 )
2018
37
Evolution of the<i>Pseudomonas aeruginosa</i>aminoglycoside mutational resistome in vitro and in the cystic fibrosis setting. ( 29437613 )
2018
38
A specialized method of sputum collection and processing for therapeutic interventions in cystic fibrosis. ( 29960875 )
2018
39
RESPIRE 2: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371384 )
2018
40
Relationship between Physical Activity and Fatigue in Adults with Cystic Fibrosis. ( 29434417 )
2018
41
Cystic fibrosis, body composition, and health outcomes: a systematic review. ( 29981489 )
2018
42
Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. ( 29446568 )
2018
43
Inhibition of histone-deacetylase activity rescues inflammatory cystic fibrosis lung disease by modulating innate and adaptive immune responses. ( 29301535 )
2018
44
The oxygen uptake efficiency slope is not a valid surrogate of aerobic fitness in cystic fibrosis. ( 29064163 )
2018
45
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. ( 29520692 )
2018
46
Epidemiology and natural history of <i>Pseudomonas aeruginosa</i> airway infections in non-cystic fibrosis bronchiectasis. ( 29930949 )
2018
47
Clinical course and significance of nontuberculous mycobacteria and its subtypes in cystic fibrosis. ( 29980189 )
2018
48
Prognostic significance of pulmonary hypertension in patients with cystic fibrosis: A systematic review and meta-analysis. ( 29443734 )
2018
49
Fitness and lung function in children with primary ciliary dyskinesia and cystic fibrosis. ( 29858006 )
2018
50
The relationship between sweat chloride levels and mortality in cystic fibrosis varies by individual genotype. ( 29221674 )
2018

Variations for Cystic Fibrosis

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

75 (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 2577)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.3767dupC (p.Leu1258Phefs) duplication Pathogenic rs387906370 GRCh38 Chromosome 7, 117642487: 117642487
2 CFTR NM_000492.3(CFTR): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs121909025 GRCh37 Chromosome 7, 117149094: 117149094
3 CFTR NM_000492.3(CFTR): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs121909025 GRCh38 Chromosome 7, 117509040: 117509040
4 CFTR NM_000492.3(CFTR): c.459_476del18 (p.Ala155_Ile160del) deletion Pathogenic rs387906371 GRCh38 Chromosome 7, 117531084: 117531101
5 CFTR NM_000492.3(CFTR): c.273+4A> G single nucleotide variant Pathogenic rs387906374 GRCh37 Chromosome 7, 117149200: 117149200
6 CFTR NM_000492.3(CFTR): c.273+4A> G single nucleotide variant Pathogenic rs387906374 GRCh38 Chromosome 7, 117509146: 117509146
7 CFTR NM_000492.3(CFTR): c.860dupA (p.Asn287Lysfs) duplication Pathogenic rs387906380 GRCh38 Chromosome 7, 117536664: 117536664
8 CFTR NM_000492.3(CFTR): c.1081delT (p.Trp361Glyfs) deletion Pathogenic rs387906361 GRCh38 Chromosome 7, 117540311: 117540311
9 CFTR NM_000492.3(CFTR): c.1093_1094delCT (p.Leu365Trpfs) deletion Pathogenic rs387906365 GRCh38 Chromosome 7, 117540323: 117540324
10 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
11 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh38 Chromosome 7, 117559592: 117559594
12 CFTR NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh37 Chromosome 7, 117199644: 117199646
13 CFTR NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh38 Chromosome 7, 117559590: 117559592
14 CFTR NM_000492.3(CFTR): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs77101217 GRCh37 Chromosome 7, 117199602: 117199602
15 CFTR NM_000492.3(CFTR): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs77101217 GRCh38 Chromosome 7, 117559548: 117559548
16 CFTR NM_000492.3(CFTR): c.328G> C (p.Asp110His) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs113993958 GRCh37 Chromosome 7, 117171007: 117171007
17 CFTR NM_000492.3(CFTR): c.328G> C (p.Asp110His) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs113993958 GRCh38 Chromosome 7, 117530953: 117530953
18 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
19 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
20 CFTR NM_000492.3(CFTR): c.1040G> C (p.Arg347Pro) single nucleotide variant Pathogenic rs77932196 GRCh37 Chromosome 7, 117180324: 117180324
21 CFTR NM_000492.3(CFTR): c.1040G> C (p.Arg347Pro) single nucleotide variant Pathogenic rs77932196 GRCh38 Chromosome 7, 117540270: 117540270
22 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh37 Chromosome 7, 117188849: 117188849
23 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh38 Chromosome 7, 117548795: 117548795
24 CFTR NM_000492.3(CFTR): c.1585-1G> A single nucleotide variant Pathogenic rs76713772 GRCh37 Chromosome 7, 117227792: 117227792
25 CFTR NM_000492.3(CFTR): c.1585-1G> A single nucleotide variant Pathogenic rs76713772 GRCh38 Chromosome 7, 117587738: 117587738
26 CFTR NM_000492.3(CFTR): c.1679G> C (p.Arg560Thr) single nucleotide variant Pathogenic rs80055610 GRCh37 Chromosome 7, 117227887: 117227887
27 CFTR NM_000492.3(CFTR): c.1679G> C (p.Arg560Thr) single nucleotide variant Pathogenic rs80055610 GRCh38 Chromosome 7, 117587833: 117587833
28 CFTR NM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn) single nucleotide variant Pathogenic rs121909006 GRCh37 Chromosome 7, 117230414: 117230414
29 CFTR NM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn) single nucleotide variant Pathogenic rs121909006 GRCh38 Chromosome 7, 117590360: 117590360
30 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
31 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh38 Chromosome 7, 117587778: 117587778
32 CFTR NM_000492.3(CFTR): c.1646G> A (p.Ser549Asn) single nucleotide variant Pathogenic,drug response rs121908755 GRCh37 Chromosome 7, 117227854: 117227854
33 CFTR NM_000492.3(CFTR): c.1646G> A (p.Ser549Asn) single nucleotide variant Pathogenic,drug response rs121908755 GRCh38 Chromosome 7, 117587800: 117587800
34 CFTR NM_000492.3(CFTR): c.1646G> T (p.Ser549Ile) single nucleotide variant Pathogenic rs121908755 GRCh37 Chromosome 7, 117227854: 117227854
35 CFTR NM_000492.3(CFTR): c.1646G> T (p.Ser549Ile) single nucleotide variant Pathogenic rs121908755 GRCh38 Chromosome 7, 117587800: 117587800
36 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh37 Chromosome 7, 117227855: 117227855
37 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh38 Chromosome 7, 117587801: 117587801
38 CFTR NM_000492.3(CFTR): c.1721C> A (p.Pro574His) single nucleotide variant Likely pathogenic rs121908758 GRCh37 Chromosome 7, 117230448: 117230448
39 CFTR NM_000492.3(CFTR): c.1721C> A (p.Pro574His) single nucleotide variant Likely pathogenic rs121908758 GRCh38 Chromosome 7, 117590394: 117590394
40 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
41 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh38 Chromosome 7, 117587806: 117587806
42 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
43 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh38 Chromosome 7, 117587811: 117587811
44 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh37 Chromosome 7, 117227883: 117227883
45 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh38 Chromosome 7, 117587829: 117587829
46 CFTR NM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs) deletion Pathogenic rs121908811 GRCh37 Chromosome 7, 117267766: 117267766
47 CFTR NM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs) deletion Pathogenic rs121908811 GRCh38 Chromosome 7, 117627712: 117627712
48 CFTR NM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter) single nucleotide variant Pathogenic rs76649725 GRCh37 Chromosome 7, 117282538: 117282538
49 CFTR NM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter) single nucleotide variant Pathogenic rs76649725 GRCh38 Chromosome 7, 117642484: 117642484
50 CFTR NM_000492.3(CFTR): c.1523T> G (p.Phe508Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs74571530 GRCh37 Chromosome 7, 117199648: 117199648

Copy number variations for Cystic Fibrosis from CNVD:

7
# CNVD ID Chromosom 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

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:

37
# 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
12.09 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 GUCY2C
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 CLCA1 CLCA4
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 S100A8 S100A9 SLC9A3R1
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 S100A8 S100A9
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 ELANE S100A8 S100A9
20 multicellular organismal water homeostasis GO:0050891 8.92 CFTR SCNN1A SCNN1B SCNN1G

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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