Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1362 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
21
(37.5%)
31118044
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.
Martinez-Hernandez A, Larrosa J, Barajas-Olmos F, Garcia-Ortiz H, Mendoza-Caamal EC, Contreras-Cubas C, Mirzaeicheshmeh E, Lezana JL, Orozco L.
BMC Med Genomics. 2019;12(1):68.
Anemia Malabsorption
CFTR
c|SUB|G|1762|T c|SUB|G|3266|A;RS#:78802634 p|SUB|E|588|* p|SUB|W|1089|*
Base Sequence Child Cystic Fibrosis Females High-Throughput Nucleotide Sequencing Homo sapiens Male Mexico Phenotype
21
(37.5%)
8156723
Severe hemolytic anemia associated with vitamin E deficiency in infants with cystic fibrosis. Implications for neonatal screening.
Wilfond BS, Farrell PM, Laxova A, Mischler E.
Clin Pediatr (Phila). 1994;33(1):2-7.
Hemolytic anemia Malnutrition
Anemia, Hemolytic Cystic Fibrosis Homo sapiens Infant Infant, Newborn Male Neonatal Screening Vitamin E Deficiency
21
(37.5%)
1335778
[The diagnostic difficulties in a case of a hemorrhagic syndrome in an infant].
Popescu V, Dragomir D, Plesca D, Zamfirescu A.
Pediatrie (Bucur). 1992;41(4):70-5.
Anemia Malabsorption
F2
Cystic Fibrosis Differential Diagnosis Hemorrhage Homo sapiens Infant Liver Failure Syndrome Vitamin K Deficiency
24
(36.3%)
30979466
Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.
Khan HH, Mew NA, Kaufman SS, Yazigi NA, Fishbein TM, Khan KM.
Transplant Proc. 2019;51(3):790-793.
Cholestasis Gastrointestinal hemorrhage
CFTR PEX26
p|SUB|K|186|N;RS#:397508753(Expired) p|SUB|R|75|Q;RS#:1800076
Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulato... Females Homo sapiens Infant, Newborn Male Mutation Preterm Infant
25
(35.1%)
19999802
[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report].
Pytrus T, Iwanczak B, Smigiel R, Ryzko J, Socha P, Iwanczak F.
Pol Merkur Lekarski. 2009;27(161):388-92.
Cholestasis Ascites Hypocholesterolemia
CFTR
Ascites Child, Preschool Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulato... Females Homo sapiens Lipid Metabolism Disorders Sweat
26
(34.9%)
16830624
[Pathomorphology of the mixed form of mycoviscidosis in an adult patient].
Iunosova IuR, Plokhova VA, Sukhachev PA, Smetanikov VM.
Arkh Patol. 2006;68(3):35-7.
Edema Cirrhosis Splenomegaly
Adult Cystic Fibrosis Fatal Outcome Homo sapiens Intestinal Diseases Male Pancreatic Diseases
27
(34.9%)
8200573
Spontaneous bacterial peritonitis in cystic fibrosis.
Doershuk CF, Stern RC.
Gut. 1994;35(5):709-11.
Cirrhosis Fever Hypersplenism Biliary cirrhosis
Adult Bacterial Infections Cystic Fibrosis Females Homo sapiens Liver Cirrhosis Male Peritonitis Splenectomy
28
(34.3%)
23085252
(3519943)
Eosinophilic esophagitis in cystic fibrosis: a case series and review of the literature.
Goralski JL, Lercher DM, Davis SD, Dellon ES.
J Cyst Fibros. 2013;12(1):9-14.
Cholelithiasis Eosinophilia
Child, Preschool Cystic Fibrosis Females Glucocorticoids Homo sapiens
29
(33.4%)
17097368
Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis.
Zedek D, Morrell DS, Graham M, Goodman D, Groben P.
J Am Acad Dermatol. 2008;58(2 Suppl):S5-8.
Edema Anemia
Acrodermatitis Cystic Fibrosis Failure to Thrive Fatal Outcome Females Homo sapiens Hypoproteinemia Infant Protein-Energy Malnutrition
29
(33.4%)
6497709
[Fibrocystic disease of the pancreas: a presentation feature. Anatomopathological report].
Heffes Nahmod LA, Ortiz J, Cervetto JL, Guastavino E, Boffi A.
Arq Gastroenterol. 1984;21(1):39-45.
Edema Anemia
Bronchi Cystic Fibrosis Duodenum Females Gallbladder Homo sapiens Infant Liver Male Pancreas
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0001738 Exocrine pancreatic insufficiency Very frequent (99-80%)
HP:0002024 Malabsorption Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0002206 Pulmonary fibrosis Very frequent (99-80%)
HP:0002613 Biliary cirrhosis Very frequent (99-80%)
HP:0002721 Immunodeficiency Very frequent (99-80%)
HP:0004313 Decreased antibody level in blood Very frequent (99-80%)
HP:0002240 Hepatomegaly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 353

HPO ID Term # of case reports
HP:0002110 Bronchiectasis 58
HP:0002099 Asthma 57
HP:0004401 Meconium ileus 44
HP:0002090 Pneumonia 30
HP:0002878 Respiratory failure 30
HP:0005214 Intestinal obstruction 26
HP:0001394 Cirrhosis 21
HP:0001733 Pancreatitis 21
HP:0004395 Malnutrition 21
HP:0012735 Cough 20
HP:0001508 Failure to thrive 19
HP:0025615 Abscess 19
HP:0002105 Hemoptysis 18
HP:0002027 Abdominal pain 17
HP:0002107 Pneumothorax 17
HP:0200114 Metabolic alkalosis 17
HP:0002024 Malabsorption 16
HP:0000822 Hypertension 14
HP:0000819 Diabetes mellitus 13
HP:0006280 Chronic pancreatitis 12
HP:0031035 Chronic infection 12
HP:0001409 Portal hypertension 11
HP:0001396 Cholestasis 10
HP:0001945 Fever 10
HP:0002094 Dyspnea 10
HP:0011947 Respiratory tract infection 10
HP:0000789 Infertility 9
HP:0001735 Acute pancreatitis 9
HP:0001944 Dehydration 9
HP:0012236 Elevated sweat chloride 9
HP:0012387 Bronchitis 9
HP:0100582 Nasal polyposis 9
HP:0000952 Jaundice 8
HP:0001738 Exocrine pancreatic insufficiency 8
HP:0002014 Diarrhea 8
HP:0002097 Emphysema 8
HP:0002315 Headache 8
HP:0002583 Colitis 8
HP:0002613 Biliary cirrhosis 8
HP:0002835 Aspiration 8
HP:0002098 Respiratory distress 7
HP:0002721 Immunodeficiency 7
HP:0011109 Chronic sinusitis 7
HP:0030731 Carcinoma 7
HP:0100027 Recurrent pancreatitis 7
HP:0000618 Blindness 6
HP:0000969 Edema 6
HP:0001878 Hemolytic anemia 6
HP:0001903 Anemia 6
HP:0002019 Constipation 6
HP:0005912 Biliary atresia 6
HP:0000027 Azoospermia 5
HP:0000100 Nephrotic syndrome 5
HP:0000246 Sinusitis 5
HP:0001081 Cholelithiasis 5
HP:0001250 Seizures 5
HP:0001369 Arthritis 5
HP:0001541 Ascites 5
HP:0001824 Weight loss 5
HP:0002013 Vomiting 5
HP:0002020 Gastroesophageal reflux 5
HP:0002093 Respiratory insufficiency 5
HP:0002576 Intussusception 5
HP:0002902 Hyponatremia 5
HP:0003040 Arthropathy 5
HP:0003470 Paralysis 5
HP:0011962 Obstructive azoospermia 5
HP:0012115 Hepatitis 5
HP:0012263 Immotile cilia 5
HP:0030049 Brain abscess 5
HP:0030828 Wheezing 5
HP:0031273 Shock 5
HP:0031864 Bacteremia 5
HP:0100584 Endocarditis 5
HP:0100750 Atelectasis 5
HP:0100806 Sepsis 5
HP:0001298 Encephalopathy 4
HP:0001370 Rheumatoid arthritis 4
HP:0002206 Pulmonary fibrosis 4
HP:0002617 Dilatation 4
HP:0003075 Hypoproteinemia 4
HP:0004387 Enterocolitis 4
HP:0011946 Bronchiolitis obliterans 4
HP:0012393 Allergy 4
HP:0025044 Lung abscess 4
HP:0100749 Chest pain 4
HP:0000083 Renal insufficiency 3
HP:0000099 Glomerulonephritis 3
HP:0000112 Nephropathy 3
HP:0000238 Hydrocephalus 3
HP:0000790 Hematuria 3
HP:0000939 Osteoporosis 3
HP:0000979 Purpura 3
HP:0001251 Ataxia 3
HP:0001513 Obesity 3
HP:0001635 Congestive heart failure 3
HP:0001638 Cardiomyopathy 3
HP:0001655 Patent foramen ovale 3
HP:0001737 Pancreatic cysts 3
HP:0001880 Eosinophilia 3
HP:0001971 Hypersplenism 3
HP:0002040 Esophageal varix 3
HP:0002108 Spontaneous pneumothorax 3
HP:0002240 Hepatomegaly 3
HP:0002580 Volvulus 3
HP:0002586 Peritonitis 3
HP:0002595 Ileus 3
HP:0002664 Neoplasm 3
HP:0003003 Colon cancer 3
HP:0004322 Short stature 3
HP:0004469 Chronic bronchitis 3
HP:0010628 Facial palsy 3
HP:0011950 Bronchiolitis 3
HP:0025428 Bronchospasm 3
HP:0030717 Meconium peritonitis 3
HP:0000093 Proteinuria 2
HP:0000121 Nephrocalcinosis 2
HP:0000739 Anxiety 2
HP:0000843 Hyperparathyroidism 2
HP:0000846 Adrenal insufficiency 2
HP:0000938 Osteopenia 2
HP:0000975 Hyperhidrosis 2
HP:0000988 Skin rash 2
HP:0001082 Cholecystitis 2
HP:0001217 Clubbing 2
HP:0001648 Cor pulmonale 2
HP:0001658 Myocardial infarction 2
HP:0001685 Myocardial fibrosis 2
HP:0001701 Pericarditis 2
HP:0001907 Thromboembolism 2
HP:0001909 Leukemia 2
HP:0001948 Alkalosis 2
HP:0001953 Diabetic ketoacidosis 2
HP:0002028 Chronic diarrhea 2
HP:0002039 Anorexia 2
HP:0002204 Pulmonary embolism 2
HP:0002516 Increased intracranial pressure 2
HP:0002570 Steatorrhea 2
HP:0002630 Fat malabsorption 2
HP:0002719 Recurrent infections 2
HP:0002748 Rickets 2
HP:0002901 Hypocalcemia 2
HP:0002904 Hyperbilirubinemia 2
HP:0002908 Conjugated hyperbilirubinemia 2
HP:0002955 Granulomatosis 2
HP:0003072 Hypercalcemia 2
HP:0003073 Hypoalbuminemia 2
HP:0003193 Allergic rhinitis 2
HP:0003198 Myopathy 2
HP:0003251 Male infertility 2
HP:0003418 Back pain 2
HP:0006532 Recurrent pneumonia 2
HP:0011102 Ileal atresia 2
HP:0011458 Abdominal symptom 2
HP:0011951 Aspiration pneumonia 2
HP:0012418 Hypoxemia 2
HP:0012486 Myelitis 2
HP:0012636 Retinal vein occlusion 2
HP:0030449 Therapeutic abortion 2
HP:0030994 Pancreas divisum 2
HP:0031363 Palpable purpura 2
HP:0031625 Pseudoaneurysm 2
HP:0032168 Clostridium difficile colitis 2
HP:0100614 Myositis 2
HP:0100653 Optic neuritis 2
HP:0000020 Urinary incontinence 1
HP:0000023 Inguinal hernia 1
HP:0000096 Glomerulosclerosis 1
HP:0000124 Renal tubular dysfunction 1
HP:0000125 Pelvic kidney 1
HP:0000316 Hypertelorism 1
HP:0000488 Retinopathy 1
HP:0000491 Keratitis 1
HP:0000520 Proptosis 1
HP:0000580 Pigmentary retinopathy 1
HP:0000602 Ophthalmoplegia 1
HP:0000608 Macular degeneration 1
HP:0000651 Diplopia 1
HP:0000662 Nyctalopia 1
HP:0000765 Abnormality of the thorax 1
HP:0000836 Hyperthyroidism 1
HP:0000842 Hyperinsulinemia 1
HP:0000853 Goiter 1
HP:0000855 Insulin resistance 1
HP:0000859 Hyperaldosteronism 1
HP:0000867 Secondary hyperparathyroidism 1
HP:0000869 Secondary amenorrhea 1
HP:0000961 Cyanosis 1
HP:0000966 Hypohidrosis 1
HP:0001138 Optic neuropathy 1
HP:0001271 Polyneuropathy 1
HP:0001284 Areflexia 1
HP:0001297 Stroke 1
HP:0001342 Cerebral hemorrhage 1
HP:0001397 Hepatic steatosis 1
HP:0001401 Intrahepatic biliary dysgenesis 1
HP:0001537 Umbilical hernia 1
HP:0001548 Overgrowth 1
HP:0001605 Vocal cord paralysis 1
HP:0001649 Tachycardia 1
HP:0001718 Mitral stenosis 1
HP:0001742 Nasal obstruction 1
HP:0001744 Splenomegaly 1
HP:0001791 Fetal ascites 1
HP:0001873 Thrombocytopenia 1
HP:0001875 Neutropenia 1
HP:0001913 Granulocytopenia 1
HP:0001919 Acute kidney injury 1
HP:0001947 Renal tubular acidosis 1
HP:0001952 Glucose intolerance 1
HP:0001955 Unexplained fevers 1
HP:0001974 Leukocytosis 1
HP:0001993 Ketoacidosis 1
HP:0002017 Nausea and vomiting 1
HP:0002018 Nausea 1
HP:0002021 Pyloric stenosis 1
HP:0002041 Intractable diarrhea 1
HP:0002070 Limb ataxia 1
HP:0002076 Migraine 1
HP:0002113 Pulmonary infiltrates 1
HP:0002148 Hypophosphatemia 1
HP:0002155 Hypertriglyceridemia 1
HP:0002157 Azotemia 1
HP:0002176 Spinal cord compression 1
HP:0002181 Cerebral edema 1
HP:0002205 Recurrent respiratory infections 1
HP:0002245 Meckel diverticulum 1
HP:0002246 Abnormality of the duodenum 1
HP:0002248 Hematemesis 1
HP:0002253 Colonic diverticula 1
HP:0002414 Spina bifida 1
HP:0002480 Hepatic encephalopathy 1
HP:0002488 Acute leukemia 1
HP:0002566 Intestinal malrotation 1
HP:0002573 Hematochezia 1
HP:0002584 Intestinal bleeding 1
HP:0002619 Varicose veins 1
HP:0002625 Deep venous thrombosis 1
HP:0002650 Scoliosis 1
HP:0002651 Spondyloepimetaphyseal dysplasia 1
HP:0002749 Osteomalacia 1
HP:0002751 Kyphoscoliosis 1
HP:0002754 Osteomyelitis 1
HP:0002780 Bronchomalacia 1
HP:0002783 Recurrent lower respiratory tract infections 1
HP:0002829 Arthralgia 1
HP:0002870 Obstructive sleep apnea 1
HP:0002875 Exertional dyspnea 1
HP:0002900 Hypokalemia 1
HP:0002907 Microscopic hematuria 1
HP:0002958 Immune dysregulation 1
HP:0003077 Hyperlipidemia 1
HP:0003124 Hypercholesterolemia 1
HP:0003149 Hyperuricosuria 1
HP:0003159 Hyperoxaluria 1
HP:0003201 Rhabdomyolysis 1
HP:0003546 Exercise intolerance 1
HP:0004308 Ventricular arrhythmia 1
HP:0004389 Intestinal pseudo-obstruction 1
HP:0004431 Complement deficiency 1
HP:0004787 Fulminant hepatitis 1
HP:0004789 Lactose intolerance 1
HP:0004905 Low levels of vitamin A 1
HP:0004936 Venous thrombosis 1
HP:0004942 Aortic aneurysm 1
HP:0005110 Atrial fibrillation 1
HP:0005112 Abdominal aortic aneurysm 1
HP:0005162 Left ventricular dysfunction 1
HP:0005213 Pancreatic calcification 1
HP:0005263 Gastritis 1
HP:0005348 Inspiratory stridor 1
HP:0005575 Hemolytic-uremic syndrome 1
HP:0005942 Desquamative interstitial pneumonitis 1
HP:0005952 Decreased pulmonary function 1
HP:0005972 Respiratory acidosis 1
HP:0005977 Hypochloremic metabolic alkalosis 1
HP:0006517 Alveolar proteinosis 1
HP:0006579 Prolonged neonatal jaundice 1
HP:0006597 Diaphragmatic paralysis 1
HP:0006640 Multiple rib fractures 1
HP:0006725 Pancreatic adenocarcinoma 1
HP:0007269 Spinal muscular atrophy 1
HP:0008070 Sparse hair 1
HP:0008682 Acute tubular necrosis 1
HP:0008755 Laryngotracheomalacia 1
HP:0008757 Unilateral vocal cord paralysis 1
HP:0009125 Lipodystrophy 1
HP:0009800 Maternal diabetes 1
HP:0010444 Pulmonary insufficiency 1
HP:0010535 Sleep apnea 1
HP:0010553 Oculogyric crisis 1
HP:0010566 Hamartoma 1
HP:0010614 Fibroma 1
HP:0010783 Erythema 1
HP:0010943 Echogenic fetal bowel 1
HP:0010961 Intralobar sequestration 1
HP:0010980 Hyperlipoproteinemia 1
HP:0011100 Intestinal atresia 1
HP:0011106 Hypovolemia 1
HP:0011432 High maternal serum alpha-fetoprotein 1
HP:0011510 Drusen 1
HP:0011675 Arrhythmia 1
HP:0011741 Secondary hyperaldosteronism 1
HP:0011897 Neutrophilia 1
HP:0012089 Arteritis 1
HP:0012330 Pyelonephritis 1
HP:0012384 Rhinitis 1
HP:0012388 Acute bronchitis 1
HP:0012416 Hypercapnia 1
HP:0012537 Food intolerance 1
HP:0012597 Heavy proteinuria 1
HP:0020074 Crystalluria 1
HP:0020106 Severe giardiasis 1
HP:0025084 Folliculitis 1
HP:0025267 Snoring 1
HP:0025356 Psychomotor retardation 1
HP:0025439 Pharyngitis 1
HP:0025502 Overweight 1
HP:0025520 Calcinosis cutis 1
HP:0030151 Cholangitis 1
HP:0030157 Flank pain 1
HP:0030169 Gastric varix 1
HP:0030357 Small cell lung carcinoma 1
HP:0030915 Cerebellar edema 1
HP:0030955 Alcoholism 1
HP:0031218 Inappropriate antidiuretic hormone secretion 1
HP:0031258 Delirium 1
HP:0031284 Flushing 1
HP:0031344 Pelvic arteriovenous malformation 1
HP:0031495 Mucinous neoplasm 1
HP:0031500 Abdominal mass 1
HP:0031615 Hypopyon 1
HP:0031801 Vocal cord dysfunction 1
HP:0032282 Contact dermatitis 1
HP:0032366 Positive direct antiglobulin test 1
HP:0040049 Macular edema 1
HP:0040128 Abnormal sweat electrolytes 1
HP:0100021 Cerebral palsy 1
HP:0100026 Arteriovenous malformation 1
HP:0100501 Recurrent bronchiolitis 1
HP:0100523 Liver abscess 1
HP:0100541 Femoral hernia 1
HP:0100574 Biliary tract neoplasm 1
HP:0100633 Esophagitis 1
HP:0100651 Type I diabetes mellitus 1
HP:0100721 Mediastinal lymphadenopathy 1
HP:0100732 Pancreatic fibrosis 1
HP:0100753 Schizophrenia 1
HP:0100776 Recurrent pharyngitis 1
HP:0200123 Chronic hepatitis 1
HP:0410019 Epigastric pain 1
HP:0430025 Bilateral facial palsy 1
HP:0500093 Food allergy 1


Causative gene(s) retrieved from Orphanet

    Total: 5

Gene Symbol Gene Name Entrez Gene ID
CFTR cystic fibrosis transmembrane conductance regulator 1080
TGFB1 transforming growth factor beta 1 7040
DCTN4 dynactin subunit 4 51164
CLCA4 chloride channel accessory 4 22802
STX1A syntaxin 1A 6804