MCID: CYS001
MIFTS: 86

Cystic Fibrosis

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

Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 54 38 12 72 50 24 25 56 71 29 13 52 41 42 14 69
Cf 12 72 50 24 25 56 71
Mucoviscidosis 12 50 24 25 56 71
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 54
Cystic Fibrosis Lung Disease, Modifier of 54
Fibrocystic Disease of Pancreas 25
Cystic Fibrosis of Pancreas 25

Characteristics:

Orphanet epidemiological data:

56
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

32
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cystic Fibrosis

MedlinePlus : 41 cystic fibrosis (cf) is an inherited disease of the mucus and sweat glands. it affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. cf causes your mucus to be thick and sticky. the mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. this can lead to repeated lung infections and lung damage. the symptoms and severity of cf can vary. some people have serious problems from birth. others have a milder version of the disease that doesn't show up until they are teens or young adults. sometimes you will have few symptoms, but later you may have more symptoms. cf is diagnosed through various tests, such as gene, blood, and sweat tests. there is no cure for cf, but treatments have improved greatly in recent years. in the past, most deaths from cf were in children and teenagers. today, with improved treatments, some people who have cf are living into their forties, fifties, or older. treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. nih: national heart, lung, and blood institute

MalaCards based summary : Cystic Fibrosis, also known as cf, is related to bronchiectasis with or without elevated sweat chloride 2 and bronchiectasis with or without elevated sweat chloride 1, and has symptoms including recurrent respiratory infections, hepatomegaly and immunodeficiency. An important gene associated with Cystic Fibrosis is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways are Ion channel transport and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Cayston and Kalydeco have been mentioned in the context of this disorder. Affiliated tissues include Lung and Lung, and related phenotypes are homeostasis/metabolism and digestive/alimentary

NIH Rare Diseases : 50 cystic fibrosis (cf) is a genetic disorder that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. symptoms may include very salty-tasting skin persistent coughing frequent lung infections including pneumonia or bronchitis, wheezing or shortness of breath, poor growth, weight loss, frequent greasy, bulky stools or 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 is inherited in an autosomal recessive pattern. treatment depends on the symptoms, and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, nutritional supplements, and others. newer medication such as cftr modulators have been approved for use in united states. ongoing research is focused on finding the cure for the disease. last updated: 9/22/2017

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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)

Disease Ontology : 12 An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.

Wikipedia : 72 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 343)
id Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 2 34.1 SCNN1A SCNN1B SCNN1G
2 bronchiectasis with or without elevated sweat chloride 1 34.0 CFTR SCNN1A SCNN1B SCNN1G
3 bronchiectasis with or without elevated sweat chloride 3 33.8 CFTR SCNN1B
4 middle lobe syndrome 32.8 CXCL8 ELANE TGFB1
5 congenital bilateral absence of vas deferens 31.8 CFTR CLCA1 CLCA4 CXCL8 DCTN4 DEFB1
6 pulmonary fibrosis 31.2 SCNN1A SCNN1B SCNN1G
7 pertussis 30.8 CFTR SCNN1G
8 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.1
9 cystic fibrosis and congenital absence of the vas deferens 11.9
10 follicular hamartoma-alopecia-cystic fibrosis syndrome 11.9
11 allergic bronchopulmonary aspergillosis 11.4
12 meconium ileus 11.3
13 bronchiectasis 11.3
14 pancreatitis 11.3
15 aspergillosis 11.3
16 exocrine pancreatic insufficiency 11.2
17 mazabraud syndrome 11.2 CFTR SCNN1A SCNN1B SCNN1G
18 hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 11.1 SCNN1A SCNN1B SCNN1G
19 anal fistula 11.1 CFTR CXCL8 ELANE
20 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 11.1 CFTR CLCA1 GUCY2C
21 stenotrophomonas maltophilia infection 11.1
22 venezuelan equine encephalitis 11.1 CFTR CXCL8 ELANE SCNN1A SCNN1B SCNN1G
23 respiratory failure 11.1
24 keratomalacia 11.1
25 shwachman-diamond syndrome 11.1
26 lubani-al saleh-teebi syndrome 11.1
27 nontuberculous mycobacterial lung disease 11.1
28 congenital hypothyroidism, duox2-related 11.1 CFTR TGFB1
29 bullous skin disease 11.1 CFTR CXCL8 ELANE IFRD1 TGFB1
30 lymphoplasmacytic lymphoma 11.1 CFTR DNASE1 ELANE
31 nasal cavity carcinoma in situ 11.1 CFTR CXCL8 ELANE
32 acute chest syndrome 11.1 CFTR CXCL8 ELANE
33 eosinophilic gastroenteritis 11.0 CXCL8 DEFB1 S100A8
34 aquagenic syringeal acrokeratoderm 10.9
35 inappropriate adh syndrome 10.9 CXCL8 DEFB1 ELANE
36 cardiac tuberculosis 10.9 CXCL8 S100A9
37 cardiocranial syndrome 10.8 CXCL8 ELANE
38 neutropenia, severe congenital 1, autosomal dominant 10.8 ELANE TGFB1
39 bladder disease 10.8 CLCA1 CLCA4
40 bile acid synthesis defect, congenital, 1 10.8
41 pseudohypoaldosteronism, type i 10.8
42 bartter syndrome, type 3 10.8
43 young syndrome 10.8
44 bile acid synthesis defect, congenital, 2 10.8
45 autosomal recessive type iv ehlers-danlos syndrome 10.8 CXCL8 DEFB1 FCGR2A
46 lymphangiectasia, intestinal 10.7 CXCL8 ELANE
47 pancreatic ductal adenocarcinoma 10.6
48 squamous blepharitis 10.5 CFTR SCNN1G
49 lung disease 10.5
50 mycobacterium abscessus 10.3

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:

54

Growth- Other:
failure to thrive

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

Cardiovascular- Heart:
cor pulmonale

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

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

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

Abdomen- Biliary Tract:
biliary cirrhosis

Abdomen- Pancreas:
pancreatic insufficiency in 80%

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:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
4 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
5 pulmonary fibrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002206
6 biliary cirrhosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002613
7 exocrine pancreatic insufficiency 56 32 frequent (33%) Very frequent (99-80%) HP:0001738
8 decreased antibody level in blood 56 32 hallmark (90%) Very frequent (99-80%) HP:0004313
9 failure to thrive 32 HP:0001508
10 hypercalciuria 32 HP:0002150
11 elevated sweat chloride 32 HP:0012236
12 bronchiectasis 32 HP:0002110
13 dehydration 32 occasional (7.5%) HP:0001944
14 asthma 32 HP:0002099
15 recurrent pneumonia 32 HP:0006532
16 chronic lung disease 32 HP:0006528
17 cor pulmonale 32 HP:0001648
18 rectal prolapse 32 HP:0002035
19 male infertility 32 HP:0003251
20 recurrent bronchopulmonary infections 32 HP:0006538
21 meconium ileus 32 HP:0004401

UMLS symptoms related to Cystic Fibrosis:


coughing, hemoptysis, snoring

MGI Mouse Phenotypes related to Cystic Fibrosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 GUCY2C S100A9 SCNN1A SCNN1B SCNN1G SLC9A3R1
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

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Cayston 17 AZTREONAM Gilead February 2010
2
Kalydeco 17 IVACAFTOR Vertex Pharmaceuticals January of 2012
3
Orkambi 17 IVACAFTOR; LUMACAFTOR Vertex Pharmaceuticals July 2015
4
Pulmozyme 17 DORNASE ALFA Genentech December 1996|March 1998
5
Tobi 17 TOBRAMYCIN PathoGenesis December 1997

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

(show top 50) (show all 469)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftazidime Approved Phase 4,Phase 1 78439-06-2, 72558-82-8 5481173
2
Meropenem Approved, Investigational Phase 4 119478-56-7 64778 441130
3
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 32986-56-4 5496 36294
4
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
5
Azithromycin Approved Phase 4,Phase 3,Phase 2,Phase 1 83905-01-5 55185 53477736 447043
6
Menthol Approved Phase 4,Phase 3,Phase 1 2216-51-5 16666
7
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1
8
Aztreonam Approved Phase 4,Phase 3,Phase 2 78110-38-0 5362041 5742832
9
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
11
Piperacillin Approved Phase 4 66258-76-2 43672
12
Tazobactam Approved Phase 4 89786-04-9 123630
13
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1 85721-33-1 2764
14
Colistin Approved Phase 4,Phase 2,Phase 1 1264-72-8, 1066-17-7 5311054
15
Itraconazole Approved, Investigational Phase 4,Phase 2,Phase 1 84625-61-6 55283
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
17
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2 564-25-0 54671203
18
Altretamine Approved Phase 4,Phase 1 645-05-6 2123
19
Pancrelipase Approved Phase 4,Phase 3,Phase 2 53608-75-6
20
Alendronate Approved Phase 4,Phase 3 121268-17-5, 66376-36-1 2088
21 Avibactam Approved Phase 4 1192500-31-4
22
Nicotine Approved Phase 4 54-11-5 942 89594
23
Tamoxifen Approved Phase 4 10540-29-1 2733526
24
Fosfomycin Approved Phase 4,Phase 2 23155-02-4 446987
25
Ticarcillin Approved, Vet_approved Phase 4 34787-01-4 36921
26
Rifampin Approved Phase 4,Phase 2,Phase 1 13292-46-1 5458213 5381226
27
Telavancin Approved Phase 4 372151-71-8
28
Cefepime Approved Phase 4 88040-23-7 5479537
29
Omalizumab Approved, Investigational Phase 4 242138-07-4
30
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
31
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
32
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 6221 10883523 5280795
33
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
34
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
35 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
37 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Antidotes Phase 4,Phase 2,Phase 1
39 Antioxidants Phase 4,Phase 1,Phase 2
40 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
41 Expectorants Phase 4,Phase 3,Phase 2,Phase 1
42 N-monoacetylcystine Phase 4,Phase 2,Phase 1
43 Protective Agents Phase 4,Phase 1,Phase 2
44 Respiratory System Agents Phase 4,Phase 3,Phase 1,Phase 2
45 Vaccines Phase 4
46 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
47 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
48 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
50 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1002)

id 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 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms Unknown status NCT00866866 Phase 4 N-Acetyl Cysteine;Placebo
4 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
5 Backpack Carrying in Children With Cystic Fibrosis Completed NCT02700282 Phase 4
6 Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination Completed NCT01499914 Phase 4
7 Pharmacokinetics of Piperacillin, Given as Continuous Infusion to Patients With Cystic Fibrosis Completed NCT01983787 Phase 4
8 Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis Completed NCT01608555 Phase 4 tobramycin
9 RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4 Pulmozyme
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 Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis Completed NCT00528190 Phase 4 Itraconazole
13 Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? Completed NCT00890370 Phase 4
14 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis Completed NCT01207245 Phase 4
15 The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4 rhDNAse
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 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
19 Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings Completed NCT00685035 Phase 4
20 Doxycycline Effects on Inflammation in Cystic Fibrosis Completed NCT01323101 Phase 4 Doxycycline
21 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®]
22 Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis Completed NCT01519661 Phase 4 TBM100
23 Scandinavian Cystic Fibrosis Azithromycin Study Completed NCT00411736 Phase 4 Study medication, azithromycin or placebo;Azithromycin or placebo tablets
24 Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
25 Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children Completed NCT01429259 Phase 4 meropenem
26 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
27 Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients Completed NCT00157690 Phase 4 Alendronate;Placebo
28 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
29 Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients Completed NCT02178540 Phase 4 Placebo
30 Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Completed NCT02421120 Phase 4 Ceftolozane/Tazobactam
31 One Year Glargine Treatment in CFRD Children and Adolescents Completed NCT00483769 Phase 4 Glargine
32 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis Completed NCT02504827 Phase 4 Ceftazidime/avibactam
33 PR-018: An Open-Label, Safety Extension of Study PR-011 Completed NCT01131507 Phase 4 EUR-1008 (APT-1008)
34 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)
35 Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
36 Electro Flo 5000 and Vest Therapy Completed NCT02277626 Phase 4
37 Clinical Study With an Enteral Formula With Symbiotic and DHA for Malnourished Children Completed NCT02128984 Phase 4
38 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
39 Ext. Long-term Safety Study in CF Patients: Single Arm TIP Completed NCT01775137 Phase 4 TBM100
40 Dornase Alfa Therapy for Ventilator Associated Lung Infections in the Neonatal Intensive Care Unit (NICU) Completed NCT01356147 Phase 4 Dornase alfa;Placebo
41 Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease Completed NCT00639236 Phase 4
42 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
43 Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis Recruiting NCT02444234 Phase 4 Tedizolid PO/IV;Tedizolid IV/PO
44 Telavancin Pharmacokinetics in Cystic Fibrosis Patients Recruiting NCT03172793 Phase 4 Telavancin Injection
45 Evaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations Recruiting NCT03256799 Phase 4 Ivacaftor
46 Aztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis Recruiting NCT02894684 Phase 4 Aztreonam;Standard Care
47 EASY: Extended Access to Sollpura Over Years Recruiting NCT02823964 Phase 4 Liprotamase
48 Standardized Treatment of Pulmonary Exacerbations II Recruiting NCT02781610 Phase 4 Standard of care IV antibiotic(s)
49 Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF Recruiting NCT02677701 Phase 4 azithromycin;placebo (for azithromycin);inhaled tobramycin
50 IV Colistin for Pulmonary Exacerbations: Improving Safety and Efficacy Recruiting NCT02918409 Phase 4 Colistin;Tobramycin

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Cystic Fibrosis 29 24 CFTR

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

39
Lung, Testes, Pancreas, Liver, Neutrophil, Colon, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cystic Fibrosis:
id Tissue Anatomical CompartmentCell Relevance
1 Lung Respiratory Bronchioles Basal Cells Potential therapeutic candidate
2 Lung Respiratory Bronchioles Cilliated Cells Potential therapeutic candidate, affected by disease
3 Lung Submucosal Glands Affected by disease

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

(show top 50) (show all 3844)
id Title Authors Year
1
Effect of allergic bronchopulmonary aspergillosis on FEV1 in children and adolescents with cystic fibrosis: a European Cystic Fibrosis Society Patient Registry analysis. ( 28325727 )
2017
2
Draft genome sequence of an aminoglycoside-resistant RmtG-producing Pseudomonas aeruginosa ST235 isolated from a cystic fibrosis patient. ( 28082143 )
2017
3
Palivizumab prophylaxis in infants with cystic fibrosis does not delay first isolation of Pseudomonas aeruginosa or Staphylococcus aureus. ( 28508992 )
2017
4
Microbial Dysbiosis in Bronchiectasis and Cystic Fibrosis. ( 28069292 )
2017
5
Inhibition of Myeloperoxidase Activity in Cystic Fibrosis Sputum by Peptide Inhibitor of Complement C1 (PIC1). ( 28135312 )
2017
6
Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR. ( 28930490 )
2017
7
Multidrug-resistant Mycobacterium abscessus threatens patients with cystic fibrosis. ( 27956215 )
2017
8
Role of vitamin D in cystic fibrosis and non-cystic fibrosis bronchiectasis. ( 28828295 )
2017
9
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review. ( 28859703 )
2017
10
Cystic Fibrosis Transmembrane Conductance Regulator Potentiation as a Therapeutic Strategy for Pulmonary Edema: A Proof-of-Concept Study in Pigs. ( 28953499 )
2017
11
MexXY efflux pump overexpression and aminoglycoside resistance in cystic fibrosis isolates of <i>Pseudomonas aeruginosa </i>from chronic infections. ( 28922614 )
2017
12
Aspergillus Bronchitis in Patients with Cystic Fibrosis. ( 28819878 )
2017
13
Body Sanctification and Sleep in Adolescents with Cystic Fibrosis: A Pilot Study. ( 28516396 )
2017
14
Direct measurement of trafficking of the cystic fibrosis transmembrane conductance regulator to the cell surface and binding to a chemical chaperone. ( 28001373 )
2017
15
Genomic information on multidrug-resistant livestock-associated methicillin-resistant Staphylococcus aureus ST398 isolated from a Brazilian patient with cystic fibrosis. ( 28076471 )
2017
16
R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series. ( 28196530 )
2017
17
Distal intestinal obstruction syndrome and colonic pathologies in cystic fibrosis. ( 28067560 )
2017
18
Lung function imaging methods in Cystic Fibrosis pulmonary disease. ( 28514950 )
2017
19
Individual Patterns of Complexity in Cystic Fibrosis Lung Microbiota, Including Predator Bacteria, over a 1-Year Period. ( 28951476 )
2017
20
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770). ( 28012258 )
2017
21
End-stage cystic fibrosis lung disease is characterised by a diverse inflammatory pattern: an immunohistochemical analysis. ( 28069067 )
2017
22
Aspergillus Species in Bronchiectasis: Challenges in the Cystic Fibrosis and Non-cystic Fibrosis Airways. ( 28516246 )
2017
23
Animal and model systems for studying cystic fibrosis. ( 28939349 )
2017
24
Blood flow regulation and oxidative stress during submaximal cycling exercise in patients with cystic fibrosis. ( 28923457 )
2017
25
Cystic fibrosis transmembrane conductance regulator mediates tenogenic differentiation of tendon-derived stem cells and tendon repair: accelerating tendon injury healing by intervening in its downstream signaling. ( 28495756 )
2017
26
Two Small Molecules Restore Stability to a Sub-population of the Cystic Fibrosis Transmembrane conductance Regulator with the Predominant Disease-causing Mutation. ( 28087700 )
2017
27
Allergic Bronchopulmonary Aspergillosis in Cystic Fibrosis: MR Imaging of Airway Mucus Contrasts as a Tool for Diagnosis. ( 28530849 )
2017
28
Strategies for the etiological therapy of cystic fibrosis. ( 28937684 )
2017
29
Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory. ( 28499359 )
2017
30
Two cases of non-cystic fibrosis (CF) bronchiectasis with allergic bronchopulmonary aspergillosis. ( 28053855 )
2017
31
Face Masks and Cough Etiquette Reduce the Cough Aerosol Concentration of Pseudomonas aeruginosa in People with Cystic Fibrosis. ( 28930641 )
2017
32
Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface. ( 28003367 )
2017
33
Six-Minute Walk Test Results Predict Risk of Hospitalization for Youths with Cystic Fibrosis: A 5-Year Follow-Up Study. ( 28087053 )
2017
34
Does newborn screening influence the young cystic fibrosis cohort included in national registries? ( 28077474 )
2017
35
Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013. ( 28944141 )
2017
36
Factors influencing the need for endoscopic sinus surgery in adult patients with cystic fibrosis. ( 28234153 )
2017
37
Taurocholate induces biliary differentiation of liver progenitor cells causing hepatic stellate cell chemotaxis in the Ductular Reaction: Role in pediatric cystic fibrosis liver disease. ( 28935574 )
2017
38
Lower Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Promotes the Proliferation and Migration of Endometrial Carcinoma. ( 28225751 )
2017
39
Incident Stenotrophomonas maltophilia infection and lung function decline in cystic fibrosis. ( 28815999 )
2017
40
Mechanisms of intrinsic resistance and acquired susceptibility of Pseudomonas aeruginosa isolated from cystic fibrosis patients to temocillin, a revived antibiotic. ( 28091521 )
2017
41
Effects of treadmill exercise versus FlutterAr on respiratory flow and sputum properties in adults with cystic fibrosis: a randomised, controlled, cross-over trial. ( 28077104 )
2017
42
Ciprofloxacin-loaded lipid-core nanocapsules as mucus penetrating drug delivery system intended for the treatment of bacterial infections in cystic fibrosis. ( 28499793 )
2017
43
Increasing Total Serum IgE, Allergic Bronchopulmonary Aspergillosis, and Lung Function in Cystic Fibrosis. ( 28526275 )
2017
44
The Vitamin D for Enhancing the Immune System in Cystic Fibrosis (DISC) trial: Rationale and design of a multi-center, double-blind, placebo-controlled trial of high dose bolus administration of vitamin D3 during acute pulmonary exacerbation of cystic fibrosis. ( 28508087 )
2017
45
mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity. ( 27174726 )
2017
46
Bronchial Epithelial Cells from Cystic Fibrosis Patients Express a Specific Long Non-coding RNA Signature upon Pseudomonas aeruginosa Infection. ( 28611953 )
2017
47
Pancreatic lipomatosis in cystic fibrosis: Rare manifestation of an uncommon disease. ( 28580220 )
2017
48
Treatment decisions for MRSA in patients with cystic fibrosis (CF): when is enough, enough? ( 28077615 )
2017
49
Molecular epidemiology of Pseudomonas aeruginosa in an unsegregated bronchiectasis cohort sharing hospital facilities with a cystic fibrosis cohort. ( 28844058 )
2017
50
EIT based pulsatile impedance monitoring during spontaneous breathing in cystic fibrosis. ( 28530203 )
2017

Variations for Cystic Fibrosis

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

71 (show top 50) (show all 133)
id 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.Asp44Gly VAR_000105 rs1800074
5 CFTR p.Trp57Gly VAR_000108 rs397508272
6 CFTR p.Pro67Leu VAR_000109 rs368505753
7 CFTR p.Arg74Trp VAR_000110 rs115545701
8 CFTR p.Gly85Glu VAR_000112 rs75961395
9 CFTR p.Phe87Leu VAR_000113 rs397508403
10 CFTR p.Gly91Arg VAR_000114 rs121908750
11 CFTR p.Glu92Lys VAR_000115 rs121908751
12 CFTR p.Gln98Arg VAR_000116 rs397508464
13 CFTR p.Ile105Ser VAR_000117
14 CFTR p.Tyr109Cys VAR_000118 rs121909031
15 CFTR p.Asp110His VAR_000119 rs113993958
16 CFTR p.Arg117Cys VAR_000121 rs77834169
17 CFTR p.Arg117His VAR_000122 rs78655421
18 CFTR p.Arg117Leu VAR_000123 rs78655421
19 CFTR p.Arg117Pro VAR_000124 rs78655421
20 CFTR p.Ala120Thr VAR_000125 rs201958172
21 CFTR p.His139Arg VAR_000126 rs76371115
22 CFTR p.Ala141Asp VAR_000127 rs397508700
23 CFTR p.Ile148Thr VAR_000128 rs35516286
24 CFTR p.Gly178Arg VAR_000130 rs80282562
25 CFTR p.Glu193Lys VAR_000132 rs397508759
26 CFTR p.His199Gln VAR_000133 rs397508765
27 CFTR p.His199Tyr VAR_000134 rs121908802
28 CFTR p.Pro205Ser VAR_000135 rs121908803
29 CFTR p.Leu206Trp VAR_000136 rs121908752
30 CFTR p.Cys225Arg VAR_000137 rs397508780
31 CFTR p.Asn287Tyr VAR_000140 rs397508804
32 CFTR p.Arg297Gln VAR_000141 rs143486492
33 CFTR p.Tyr301Cys VAR_000142 rs150691494
34 CFTR p.Ser307Asn VAR_000143 rs397508817
35 CFTR p.Phe311Leu VAR_000144 rs121909016
36 CFTR p.Gly314Glu VAR_000146 rs75763344
37 CFTR p.Gly314Arg VAR_000147 rs397508819
38 CFTR p.Arg334Trp VAR_000148 rs121909011
39 CFTR p.Ile336Lys VAR_000150 rs397508139
40 CFTR p.Thr338Ile VAR_000151 rs77409459
41 CFTR p.Leu346Pro VAR_000152 rs397508146
42 CFTR p.Arg347His VAR_000153 rs77932196
43 CFTR p.Arg347Leu VAR_000154 rs77932196
44 CFTR p.Arg347Pro VAR_000155 rs77932196
45 CFTR p.Arg352Gln VAR_000156 rs121908753
46 CFTR p.Gln359Lys VAR_000157 rs76879328
47 CFTR p.Ala455Glu VAR_000160 rs74551128
48 CFTR p.Val456Phe VAR_000161 rs397508195
49 CFTR p.Gly458Val VAR_000162 rs121909009
50 CFTR p.Gly480Cys VAR_000165 rs79282516

ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 395)
id Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
2 CFTR NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh37 Chromosome 7, 117199644: 117199646
3 CFTR NM_000492.3(CFTR): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs77101217 GRCh37 Chromosome 7, 117199602: 117199602
4 CFTR NM_000492.3(CFTR): c.328G> C (p.Asp110His) single nucleotide variant Pathogenic rs113993958 GRCh37 Chromosome 7, 117171007: 117171007
5 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
6 CFTR NM_000492.3(CFTR): c.1040G> C (p.Arg347Pro) single nucleotide variant Pathogenic rs77932196 GRCh37 Chromosome 7, 117180324: 117180324
7 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh37 Chromosome 7, 117188849: 117188849
8 CFTR NM_000492.3(CFTR): c.1585-1G> A single nucleotide variant Pathogenic rs76713772 GRCh37 Chromosome 7, 117227792: 117227792
9 CFTR NM_000492.3(CFTR): c.1679G> C (p.Arg560Thr) single nucleotide variant Pathogenic rs80055610 GRCh37 Chromosome 7, 117227887: 117227887
10 CFTR NM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn) single nucleotide variant Pathogenic rs121909006 GRCh37 Chromosome 7, 117230414: 117230414
11 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
12 CFTR NM_000492.3(CFTR): c.1646G> A (p.Ser549Asn) single nucleotide variant Pathogenic,drug response rs121908755 GRCh37 Chromosome 7, 117227854: 117227854
13 CFTR NM_000492.3(CFTR): c.1646G> T (p.Ser549Ile) single nucleotide variant Pathogenic rs121908755 GRCh37 Chromosome 7, 117227854: 117227854
14 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh37 Chromosome 7, 117227855: 117227855
15 CFTR NM_000492.3(CFTR): c.1721C> A (p.Pro574His) single nucleotide variant Pathogenic/Likely pathogenic rs121908758 GRCh37 Chromosome 7, 117230448: 117230448
16 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
17 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
18 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh37 Chromosome 7, 117227883: 117227883
19 CFTR NM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs) deletion Pathogenic rs121908811 GRCh37 Chromosome 7, 117267766: 117267766
20 CFTR NM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter) single nucleotide variant Pathogenic rs76649725 GRCh37 Chromosome 7, 117282538: 117282538
21 CFTR NM_000492.3(CFTR): c.2538G> A (p.Trp846Ter) single nucleotide variant Pathogenic rs267606722 GRCh37 Chromosome 7, 117235031: 117235031
22 CFTR NM_000492.3(CFTR): c.2738A> G (p.Tyr913Cys) single nucleotide variant Pathogenic rs121909008 GRCh37 Chromosome 7, 117243666: 117243666
23 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
24 CFTR NM_000492.3(CFTR): c.1373G> T (p.Gly458Val) single nucleotide variant Pathogenic rs121909009 GRCh37 Chromosome 7, 117188858: 117188858
25 CFTR NM_000492.3(CFTR): c.3947G> A (p.Trp1316Ter) single nucleotide variant Pathogenic rs121909010 GRCh37 Chromosome 7, 117292969: 117292969
26 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh37 Chromosome 7, 117180305: 117180306
27 CFTR NM_000492.3(CFTR): c.1081delT (p.Trp361Glyfs) deletion Pathogenic rs387906361 GRCh37 Chromosome 7, 117180365: 117180365
28 CFTR NM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys) single nucleotide variant Pathogenic rs80034486 GRCh37 Chromosome 7, 117292931: 117292931
29 CFTR NM_000492.3(CFTR): c.3484C> T (p.Arg1162Ter) single nucleotide variant Pathogenic rs74767530 GRCh37 Chromosome 7, 117267591: 117267591
30 CFTR NM_000492.3(CFTR): c.3717+4A> G single nucleotide variant Pathogenic rs387906362 GRCh37 Chromosome 7, 117267828: 117267828
31 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh37 Chromosome 7, 117180284: 117180284
32 CFTR NM_000492.3(CFTR): c.1545_1546delTA (p.Tyr515Terfs) deletion Pathogenic rs121908776 GRCh37 Chromosome 7, 117199670: 117199671
33 CFTR NM_000492.3(CFTR): c.2551C> T (p.Arg851Ter) single nucleotide variant Pathogenic rs121909012 GRCh37 Chromosome 7, 117235044: 117235044
34 CFTR NM_000492.3(CFTR): c.1651G> A (p.Gly551Ser) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121909013 GRCh37 Chromosome 7, 117227859: 117227859
35 CFTR NM_000492.3(CFTR): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs75961395 GRCh37 Chromosome 7, 117149177: 117149177
36 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh37 Chromosome 7, 117267579: 117267579
37 CFTR NM_000492.3(CFTR): c.720_741del22 (p.Gly241Glufs) deletion Pathogenic rs121908804 GRCh37 Chromosome 7, 117175442: 117175463
38 CFTR NM_000492.3(CFTR): c.424delA (p.Ile142Phefs) deletion Pathogenic rs387906363 GRCh37 Chromosome 7, 117171103: 117171103
39 CFTR NM_000492.3(CFTR): c.429delT (p.Phe143Leufs) deletion Pathogenic rs387906364 GRCh37 Chromosome 7, 117171108: 117171108
40 CFTR NM_000492.3(CFTR): c.2737_2738insG (p.Tyr913Terfs) insertion Pathogenic rs121908788 GRCh37 Chromosome 7, 117243665: 117243666
41 CFTR NM_000492.3(CFTR): c.1558G> T (p.Val520Phe) single nucleotide variant Pathogenic rs77646904 GRCh37 Chromosome 7, 117199683: 117199683
42 CFTR NM_000492.3(CFTR): c.1572C> A (p.Cys524Ter) single nucleotide variant Pathogenic rs121908754 GRCh37 Chromosome 7, 117199697: 117199697
43 CFTR NM_000492.3(CFTR): c.3873G> C (p.Gln1291His) single nucleotide variant Pathogenic rs121909015 GRCh37 Chromosome 7, 117282647: 117282647
44 CFTR NM_000492.3(CFTR): c.933C> G (p.Phe311Leu) single nucleotide variant Pathogenic rs121909016 GRCh37 Chromosome 7, 117180217: 117180217
45 CFTR NM_000492.3(CFTR): c.1093_1094delCT (p.Leu365Trpfs) deletion Pathogenic rs387906365 GRCh37 Chromosome 7, 117180377: 117180378
46 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh37 Chromosome 7, 117199600: 117199600
47 CFTR NM_000492.3(CFTR): c.1679G> A (p.Arg560Lys) single nucleotide variant Pathogenic rs80055610 GRCh37 Chromosome 7, 117227887: 117227887
48 CFTR NM_000492.3(CFTR): c.2479G> T (p.Glu827Ter) single nucleotide variant Pathogenic rs121909018 GRCh37 Chromosome 7, 117232700: 117232700
49 CFTR NM_000492.3(CFTR): c.3197G> A (p.Arg1066His) single nucleotide variant Pathogenic rs121909019 GRCh37 Chromosome 7, 117251692: 117251692
50 CFTR NM_000492.3(CFTR): c.3873+1G> A single nucleotide variant Pathogenic rs143570767 GRCh37 Chromosome 7, 117282648: 117282648

Copy number variations for Cystic Fibrosis from CNVD:

7
id 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
id 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

GO Terms for Cystic Fibrosis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.77 CFTR CLCA4 DEFB1 DNAJC5 DNASE1 ELANE
2 apical plasma membrane GO:0016324 9.63 CFTR CLCA4 SCNN1A SCNN1B SCNN1G SLC9A3R1
3 microvillus GO:0005902 9.58 CLCA1 SLC9A3R1 TGFB1
4 secretory granule GO:0030141 9.56 CLCA1 ELANE STX1A TGFB1
5 sperm midpiece GO:0097225 9.43 DEFB1 SLC9A3R1
6 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G
7 plasma membrane GO:0005886 10.17 CFTR CLCA1 CLCA4 DNAJC5 FCGR2A GUCY2C
8 extracellular region GO:0005576 10.07 CLCA1 CLCA4 CXCL8 DEFB1 DNASE1 ELANE

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.96 DNAJC5 ELANE FCGR2A S100A8 S100A9
2 defense response to bacterium GO:0042742 9.84 DEFB1 ELANE S100A8 S100A9
3 chemotaxis GO:0006935 9.81 CXCL8 DEFB1 S100A8 S100A9
4 ion transmembrane transport GO:0034220 9.8 CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
5 chloride transmembrane transport GO:1902476 9.77 CFTR CLCA1 CLCA4
6 sodium ion transmembrane transport GO:0035725 9.76 SCNN1A SCNN1B SCNN1G
7 chloride transport GO:0006821 9.74 CFTR CLCA1 CLCA4
8 neutrophil chemotaxis GO:0030593 9.7 CXCL8 S100A8 S100A9
9 sensory perception of taste GO:0050909 9.67 SCNN1A SCNN1B SCNN1G
10 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.63 S100A8 S100A9 SLC9A3R1
11 acute inflammatory response GO:0002526 9.58 DEFB1 S100A8
12 antimicrobial humoral response GO:0019730 9.56 DEFB1 ELANE S100A8 S100A9
13 defense response to fungus GO:0050832 9.54 ELANE S100A8 S100A9
14 sequestering of zinc ion GO:0032119 9.48 S100A8 S100A9
15 chemokine production GO:0032602 9.43 S100A8 S100A9
16 leukocyte migration involved in inflammatory response GO:0002523 9.33 ELANE S100A8 S100A9
17 neutrophil aggregation GO:0070488 9.32 S100A8 S100A9
18 nuclear migration GO:0007097 9.25 DCTN4
19 sodium ion homeostasis GO:0055078 9.13 SCNN1A SCNN1B SCNN1G
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 11)
id Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.67 DCTN4 STX1A TGFB1
2 chloride channel activity GO:0005254 9.61 CFTR CLCA1 CLCA4
3 intracellular calcium activated chloride channel activity GO:0005229 9.48 CLCA1 CLCA4
4 RAGE receptor binding GO:0050786 9.46 S100A8 S100A9
5 chloride channel inhibitor activity GO:0019869 9.4 CFTR STX1A
6 chloride channel regulator activity GO:0017081 9.37 CFTR SLC9A3R1
7 ATP-dependent protein binding GO:0043008 9.32 DNAJC5 STX1A
8 arachidonic acid binding GO:0050544 9.26 S100A8 S100A9
9 Toll-like receptor 4 binding GO:0035662 9.16 S100A8 S100A9
10 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
11 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1A SCNN1B SCNN1G

Sources for Cystic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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