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)
1
(55.1%)
24502104
Presentation of an infant with nutritional deficiency dermatitis as the initial manifestation of cystic fibrosis.
Stojkovic A, Radlovic N, Vuletic B, Nestorovic B, Lekovic Z, Obradovic S, Vujic A.
Srp Arh Celok Lek. 2013;141(11-12):810-3.
Hepatosplenomegaly Normochromic anemia Hypoalbuminemia
Cystic Fibrosis Dermatitis Homo sapiens Infant Male Malnutrition
1
(55.1%)
14758309
Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis.
Muniz AE, Bartle S, Foster R.
Pediatr Emerg Care. 2004;20(2):112-4.
Edema Anemia Hepatomegaly
Acrodermatitis Anemia Cystic Fibrosis Diarrhea Edema Homo sapiens Hypoproteinemia Infant Male
3
(50.6%)
11196750
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.
Yenicesu I, Kalayci O, Semizel E, Kavak U, Gumruk F, Ferec C, Beutler E.
Turk J Pediatr. 2000;42(4):319-21.
Hemolytic anemia Malnutrition Stomatocytosis Elevated sweat chloride
F5 TPI1
Anemia, Hemolytic, Congenital Nonspherocytic Chlorides Cystic Fibrosis Differential Diagnosis Females Homo sapiens Infant Mutation Sweat Triose-Phosphate Isomerase
4
(49.9%)
17228786
[Clinical studies of pediatric malabsorption syndromes].
Hosoyamada T.
Fukuoka Igaku Zasshi. 2006;97(11):322-50.
Acanthocytosis Dehydration Diarrhea
GAST
Acrodermatitis Child Child, Preschool Cystic Fibrosis Diarrhea Females Glycogen Storage Disease Type I Hartnup Disease Homo sapiens Hypobetalipoproteinemia, Familial, Apolipoprotein ... Infant Infant, Newborn Infantile Diarrhea Lactose Intolerance Lymphangiectasis, Intestinal Malabsorption Syndrome Male
5
(47.8%)
3431024
[Manifestation of intolerance to cow's milk protein in mucoviscidosis with the symptom triad of hypoproteinemia, edema and anemia].
Skopnik H, Heimann G.
Klin Padiatr. 1987;199(6):453-6.
Edema Exocrine pancreatic insufficiency Anemia
Anemia Cystic Fibrosis Differential Diagnosis Edema Homo sapiens Hypoproteinemia Infant Malabsorption Syndrome Male Milk Proteins
6
(46.6%)
1417024
Dermatitis as a presenting sign of cystic fibrosis.
Darmstadt GL, Schmidt CP, Wechsler DS, Tunnessen WW, Rosenstein BJ.
Arch Dermatol. 1992;128(10):1358-64.
Edema Anemia Malnutrition Papule
Cystic Fibrosis Dermatitis Females Homo sapiens Infant Male
7
(44.7%)
26223399
[Cutaneous manifestations of cystic fibrosis in an infant: acrodermatitis enteropathica and gray hair].
Yarmuch GP, Chaparro RX, Fischer SC.
Rev Chil Pediatr. 2015;86(1):52-5.
Skin rash Anemia Hypoproteinemia
Acrodermatitis Anemia Cystic Fibrosis Enzyme Replacement Therapy Females Hair Color Homo sapiens Hypoproteinemia Infant
8
(43.7%)
24778569
(4001421)
Hair depigmentation and dermatitis - an unexpected presentation of cystic fibrosis.
Milankov O, Savic R, Tosic J.
Balkan J Med Genet. 2013;16(2):81-4.
Edema Anemia Malnutrition
9
(43.5%)
12216439
Cystic fibrosis presenting as fetal anemia. A case report.
Rijhsinghani A, Hansen WF, Phan B.
J Reprod Med. 2002;47(8):686-8.
Ascites Anemia
Adult Anemia Blood Flow Velocity Cystic Fibrosis Females Fetal Diseases Homo sapiens Male Pregnancy Ultrasonography
9
(43.5%)
11225471
[Neonatal ascites: meconium ileus with perforation in mucoviscidosis].
Stoll-Becker S, Reiss I, Huls G, Hauch A, Hermsteiner M, Gortner L.
Klin Padiatr. 2001;213(1):26-7.
Ascites Anemia
Ascites Cystic Fibrosis Differential Diagnosis Homo sapiens Ileal Diseases Infant, Newborn Infant, Premature, Diseases Intestinal Obstruction Intestinal Perforation Male Meconium Ultrasonography, Prenatal
        

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