Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIE,  D430008P04Rik,  tie-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tie1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tie1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401

The table below shows human diseases predicted to be associated to Tie1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Edema OMIM:614103
Angioedema, Hereditary, 6
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Angioedema, Hereditary, 3
Pharyngeal edema, Intestinal edema, Angioedema, Episodic upper airway obstruction, Facial edema OMIM:610618
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Ventricular hypertrophy, Atr... OMIM:115197
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Left atrial enlargement, Syncope, Abnormal left ventricular function... ORPHA:75249
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Lymphatic Malformation 2
Lymphedema OMIM:611944
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Angioedema, Hereditary, 5
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619361
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Atria... OMIM:617300
Hereditary Angioedema Type 1
Tongue edema, Dysphagia, Pharyngeal edema, Edema of the dorsum of hands, Intestinal edema, Facial... ORPHA:100050
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... ORPHA:199241
Asbestos Intoxication
Cor pulmonale, Wheezing, Right ventricular failure, Lung adenocarcinoma, Pleural thickening, Exer... ORPHA:2302
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Vasculitis, Respiratory f... ORPHA:70578
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Respiratory failure, ... OMIM:253300
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Rhinorrhea, Cough, Arrhythmia, Pulmonary edema, Cardiorespiratory arre... ORPHA:188
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Gastrointestin... ORPHA:330001
Cirrhotic Cardiomyopathy
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ascites, Ventric... ORPHA:57777
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema OMIM:619367
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Absence Of The Pulmonary Artery
Truncus arteriosus, Pulmonary edema, Abnormal EKG, Recurrent respiratory infections, Reduced ejec... ORPHA:980
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Ascites, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Pulm... OMIM:261740
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Paroxysmal dyspnea, Right ventricul... ORPHA:563
Angioedema, Hereditary, 1
Laryngeal edema, Pharyngeal edema, Intestinal edema, Angioedema OMIM:106100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Arrhythmia, Pulmonary ... ORPHA:542323
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Abnormal cardiac septum morphology, Respiratory insufficiency ORPHA:3188
Nemaline Myopathy 8
Respiratory failure, Dysphagia, Death in infancy, Polyhydramnios OMIM:615348
Butyrylcholinesterase Deficiency
Respiratory failure, Myocardial infarction, Respiratory failure requiring assisted ventilation, C... ORPHA:132
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Celiac disease, Increased stool alpha1-anti... ORPHA:90363
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... OMIM:263000
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Hypertension, Crac... ORPHA:79126
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure, Polyhydramnios OMIM:616794
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Polyhydramnios OMIM:225753
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Cleft palate, High palate, Respiratory insufficiency, Respiratory failure, Respiratory... OMIM:614399
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... OMIM:610921
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Cap... ORPHA:64739
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... OMIM:265120
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal death, Respira... OMIM:228940
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilatio... ORPHA:90117
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Polyhydramnios, Death in childhood, Respiratory failure OMIM:619334
Cocaine Intoxication
Wheezing, Ventricular arrhythmia, Pulmonary edema, Diffuse alveolar hemorrhage, Hyperventilation,... ORPHA:90068
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... ORPHA:266
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Abnormal pulmonary interstit... ORPHA:178320
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency, Polyhydramnios OMIM:215550
High palate, Edema, Apnea, Cardiomegaly, Polyhydramnios, Left ventricular hypertrophy, Respirator... ORPHA:79330
Lymphatic Malformation 3
Lymphedema OMIM:613480
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency, Polyhydramnios ORPHA:2444
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Edema, Polyhydramnios, Respiratory failure OMIM:607598
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Tachypnea,... ORPHA:555874
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Meckel diverticulum, Morphological abnormality of the gastrointestinal tra... ORPHA:2847
Sinusitis, Bronchial breath sound, Abnormal jejunum morphology, Pericarditis, Abnormal respirator... ORPHA:449280
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Anal atresia, Respiratory failure OMIM:276950
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cleft palate, Atrial fibrillation, Tachypnea, Atrioventricular block, ... ORPHA:137675
Truncus Arteriosus
Truncus arteriosus, Pulmonary edema, Pulmonary artery stenosis, Ventricular septal defect, Abnorm... ORPHA:3384
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empy... ORPHA:36238
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Death in infancy, Abnormal pulmonary valve morphology, Abnormal aort... ORPHA:1194
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... ORPHA:723
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Respiratory insufficiency,... OMIM:614299
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cardiomegaly, Cough, Reticular pattern on pulmonary HRC... ORPHA:99931
White Sponge Nevus 2
Edema OMIM:615785
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Polyhydramnios, Respiratory ... ORPHA:3346
Snakebite Envenomation
Intracranial hemorrhage, Pseudobulbar paralysis, Angioedema, Edema, Epistaxis, Respiratory paraly... ORPHA:449285
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Neonatal respiratory distress, Polyhydramnios, Respiratory failure, Pulmonary hypoplas... OMIM:616867
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Primary Ciliary Dyskinesia
Wheezing, Neonatal respiratory distress, Pulmonary situs ambiguus, Recurrent sinopulmonary infect... ORPHA:244
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Nonimmune hydrops fetalis, Neonatal death, Pulmonary arterial hype... OMIM:619003
Indomethacin Embryofetopathy
Ventricular septal defect, Respiratory insufficiency, Cardiomyopathy, Oligohydramnios, Atrial sep... ORPHA:1909
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Intracranial hemorrhage, Pneumonia, Palpitations, Subconjunctival hemorrhage... ORPHA:340
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema OMIM:153300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, High palate, Respiratory insufficiency due to muscle weakness OMIM:611890
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Edema, Stillbirth, Pedal edema OMIM:152800
Hepatic Veno-Occlusive Disease
Respiratory failure, Ascites ORPHA:890
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Bronchiectasis, Microvillus inclusions, Microvillar PAS-positive secretory granu... OMIM:619445
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Median cleft lip and palate ORPHA:1832
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory insufficiency, Edema, Polyhydramnios, Respiratory failure OMIM:615330
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Dysphagia, Gastrointestinal dysmotility OMIM:618637
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Abnormal heart morphology, Centr... ORPHA:70472
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Respiratory insufficiency, Situs inversus totalis, Oligohy... OMIM:602088
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Ischemic stroke, Intestinal perforation, Telangiectasia of the skin... ORPHA:679
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Macroglossia, Respiratory insufficiency d... ORPHA:308552
Hellp Syndrome
Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, Generalized edema, H... ORPHA:244242
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Facial edema, Genital edem... ORPHA:568051
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Bradycardia, Death in infancy OMIM:617248
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... OMIM:310200
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema OMIM:614100
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Lymphatic Malformation 5
Hypoplasia of lymphatic vessels, Facial edema, Predominantly lower limb lymphedema OMIM:153200
Intermediate Nemaline Myopathy
Respiratory failure, High, narrow palate, Dysphagia, Polyhydramnios ORPHA:171433
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Abnormal heart morphology, Cardiomyopathy, Abnormality of the gastrointestinal tract, Respiratory... ORPHA:79327
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory ... ORPHA:352447
Lymphatic Malformation 10
Lymphedema OMIM:619369
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Mitral valve calcification, Pleural thickening, Exertional dyspnea, Re... ORPHA:60025
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... ORPHA:444013
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruc... ORPHA:60032
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy OMIM:619386
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... OMIM:245400
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema ORPHA:171719
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Neonatal respiratory distress, High palate, Polyhydramnios, Respiratory failure... OMIM:310400
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea, Episodic hypertension OMIM:619483
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death, Tracheo... OMIM:245650
Hyperekplexia 4
Respiratory failure, High palate OMIM:618011
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Hydronephrosis, Duodenal... ORPHA:210122
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Respiratory insufficiency, Oligohydramnios, Arrhythmia OMIM:617021
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema, Congestive heart failure, Sudden c... ORPHA:73224
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Respiratory insufficiency, Congestive heart failure, Respiratory failure,... OMIM:609015
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Con... ORPHA:454836
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ... OMIM:616037
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous ventricular septal ... OMIM:611376
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Polyhydramnios, Respiratory distress, Recurrent respiratory inf... ORPHA:2759
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency, Abnormality of the tongue muscle ORPHA:370968
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory paralysis, Respiratory distress, Cerebral edema, Pul... ORPHA:79139
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenital shortened small intes... OMIM:300048
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... OMIM:615237
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cleft palate, Cardiomegaly, Cardiomyopathy, Oligohydramnios, Respiratory failu... ORPHA:158687
Achondrogenesis, Type Ib
Respiratory insufficiency, Edema, Stillbirth, Polyhydramnios, Hydrops fetalis OMIM:600972
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Ascites, Edema, Abnormal tricuspid valve morphology, Gastrointestinal ... ORPHA:90308
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Apnea, Central sleep apnea ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Panacinar emphysema OMIM:613490
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Death in adolescence, Congestive heart fa... OMIM:605676
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Lymph node hypoplasia, Facial ... ORPHA:90186
Cystic Hamartoma Of Lung And Kidney
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Proximal Spinal Muscular Atrophy
Dysphagia, Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weak... ORPHA:70
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Malrotation of small bowel, Pu... ORPHA:139466
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Intracranial hemorrhage, Lymphedema ORPHA:3226
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Lymphedema OMIM:618154
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Pyloric stenosis, Hypertension,... ORPHA:3342
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, High palate, Antenatal intracerebral hemorrhage, Respiratory insufficienc... OMIM:608836
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... ORPHA:95427
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Protein-losing enteropathy, Abnormal cardiac septum morphology, Patent... OMIM:608104
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea, Dysphagia OMIM:618233
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Cerebral edema, Death in infancy OMIM:617186
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Neonatal respiratory distress, Webbed neck, Pulmonary arterial hyperte... ORPHA:209905
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Reduced ejection fraction, Mac... ORPHA:258
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramni... OMIM:265300
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage OMIM:178550
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, High palate, Exertional dyspnea, Orthopnea, Reduced vital capacit... ORPHA:98913
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Thymic Tumor
Pericarditis, Mediastinal lymphadenopathy, Neoplasm of the thymus, Edema, Cardiac arrest, Palpebr... ORPHA:100100
Severe Congenital Nemaline Myopathy
Dysphagia, Polyhydramnios, Respiratory failure, Pulmonary hypoplasia, Edema of the dorsum of hands ORPHA:171430
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Situs inversus total... OMIM:614874
Immunodeficiency 31C
Abnormal intestine morphology, Recurrent respiratory infections, Villous atrophy OMIM:614162
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption ORPHA:100025
Congenital Tracheal Stenosis
Ventricular septal defect, Meckel diverticulum, Abnormality of the ureter, Duodenal atresia, Morp... ORPHA:141127
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Single ventricle, Apnea, Decreased peak expiratory flow,... ORPHA:95430
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Immunodeficiency 54
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:609981
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... ORPHA:330021
Dextrocardia, Abnormal pulmonary situs morphology, Meckel diverticulum, Abnormality of the ureter... ORPHA:1666
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Systemic Sclerosis
Myocarditis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney disease, Barrett es... ORPHA:90291
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... ORPHA:3348
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Hec Syndrome
Respiratory insufficiency, Endocardial fibroelastosis, Cardiomyopathy, Polyhydramnios, Arrhythmia ORPHA:2119
Multiple Acyl-Coa Dehydrogenase Deficiency
Dysphagia, Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Cardiorespiratory arre... ORPHA:26791
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Dysphagia, Respiratory insufficiency, Macroglossia, Left ventricular... ORPHA:365
Antisynthetase Syndrome
Myocarditis, Dysphagia, Respiratory insufficiency, Xerostomia, Edema, Pulmonary arterial hyperten... ORPHA:81
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome ORPHA:60
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Dysphagia OMIM:613954
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Mitral regurgitation, Cardiac con... ORPHA:70474
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Left ve... ORPHA:746
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea, Xerostomia, Abnormal respiratory system physiology ORPHA:803
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, P... OMIM:265380
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth, Ascites OMIM:259720
Diarrhea 9
Villous atrophy OMIM:618168
Myocarditis, Abnormal large intestine morphology, Abnormality of the small intestine, Pericarditi... ORPHA:801
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Respiratory insufficiency, Atrial fibrillation, Cerebral ischemi... ORPHA:1880
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hypertension ORPHA:363400
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Hepatocellular carcinoma, Cardiomyopathy, Hydrops fetalis ORPHA:88618
Idiopathic Bronchiectasis
Bronchiectasis, Recurrent lower respiratory tract infections, Respiratory tract infection, Acute ... ORPHA:60033
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Pro... OMIM:618913
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor OMIM:604320
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Sandestig-Stefanova Syndrome
Respiratory failure, High palate, Perimembranous ventricular septal defect, Muscular ventricular ... OMIM:618804
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Abnormal respiratory system physiology, Pneumonia, Edema, Polyhydramnios, Respirator... ORPHA:98905
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Duodenal stenosis, Patent ductus arteriosus ORPHA:2547
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... OMIM:185069
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Abnormal heart morphology, M... ORPHA:79076
Radio-Renal Syndrome
High, narrow palate, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylot... ORPHA:3015
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Productive cough, Pericarditis, Pneumonia, Endocarditis, Pneumothorax, Pleuritis, Respiratory dis... ORPHA:31204
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Mosaic Trisomy 16
Hypospadias, Horseshoe kidney, Ventricular septal defect, Meckel diverticulum, Abnormal heart mor... ORPHA:1708
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Right ventricular hypertrophy, Tachypnea... ORPHA:217563
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pneumothorax, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Abnorm... OMIM:612387
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Hypoxemia, Dysphagia, Intercostal muscle weakness, High palate, Abnormal heart mor... ORPHA:2020
Renal Dysplasia-Limb Defects Syndrome
High palate, Pneumothorax, Neonatal death, Respiratory distress, Oligohydramnios, Respiratory fai... OMIM:266910
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Death ... OMIM:610505
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Death in infancy OMIM:618835
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Honeycomb lung, Chronic bronchitis, Bronchiectasis, Hypersensitivity pneumonitis, Respiratory tra... ORPHA:79127
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Sleep apnea, Respiratory failure, Dyspnea OMIM:617809
Riddle Syndrome
Telangiectasia, Pneumonia, Chronic sinusitis, Conjunctival telangiectasia, Respiratory failure, A... ORPHA:420741
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Elevat... ORPHA:92050
Short Rib-Polydactyly Syndrome
Cleft palate, Abnormal heart morphology, Situs inversus totalis, Edema, Gastrointestinal atresia,... ORPHA:1505
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Ventricular septal defect, Rectal prolapse, Hydronephrosis, Pericardial effusio... OMIM:235510
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Cardiomyopathy ORPHA:445038
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Hydronephrosis, Rectal prolapse, Pulmonary hypoplasia, Patent foramen ovale, Pu... OMIM:613177
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Eosinophilic Gastroenteritis
Dysphagia, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Protein-losing ... ORPHA:2070
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Niemann-Pick Disease, Type C2
Respiratory failure, Fetal ascites, Dysphagia, Respiratory insufficiency OMIM:607625
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Hypertension, Dysphagia, Hypovolemic shock, Paralytic ileus, Respiratory failure, Respiratory fai... ORPHA:2912
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Narrow palate OMIM:616505
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Abnormal mitral valve m... ORPHA:1461
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea, High, narrow palate ORPHA:2707
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Microvillus Inclusion Disease
Abnormal renal physiology, Villous atrophy, Abnormality of small intestinal villus morphology, Ne... ORPHA:2290
Boutonneuse Fever
Respiratory failure, Vasculitis ORPHA:83313
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Duodenal atresia, Tricuspid stenosis, Abnorm... ORPHA:391641
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Netherton Syndrome
Hydronephrosis, Aminoaciduria, Malabsorption, Ectopic kidney, Recurrent respiratory infections, E... ORPHA:634
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy OMIM:602579
Meier-Gorlin Syndrome 7
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, High palate, Clef... OMIM:617063
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, High palate, Respiratory insufficiency, Ascites, Esophageal varix, Tachypnea... OMIM:613658
Whim Syndrome
Abnormality of the small intestine, Pneumonia, Bronchiectasis, Parotitis, Respiratory tract infec... ORPHA:51636
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Polyhydramnios, Recurrent pneumonia, Respiratory failure, Respiratory failure requirin... ORPHA:496641
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Peripheral pulmonary artery stenosis, Pneumothorax, Pyelonephritis, Urethral di... ORPHA:90349
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Esophageal varix, Ascites, Cholangiocarcinoma, Hepatoblastoma,... ORPHA:731
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in infancy, Respirator... OMIM:252010
Primary Intestinal Lymphangiectasia
Pericardial effusion, Increased stool alpha1-antitrypsin concentration, Functional abnormality of... ORPHA:90362
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Crohn's disease... OMIM:619632
Macroglossia, Protein-losing enteropathy ORPHA:79320
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Gastrointestinal carcinoma, Malabsorption, Glossitis, Hamartomatous polyposis, Protei... OMIM:175500
Bloom Syndrome
Telangiectasia, Chronic pulmonary obstruction, Esophageal neoplasm, Stomach cancer, Pneumonia, Rh... ORPHA:125
Costello Syndrome
Hypertrophic cardiomyopathy, Pyloric stenosis, Ventricular septal defect, High palate, Mitral val... OMIM:218040
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Ventricular septal defect, High palate, Cleft palate, Hydronephrosis,... OMIM:235255
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Ureteral duplication, Duodenal atresia... OMIM:270100
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Stridor, Pneumonia, Pneumothorax, Edema, Bradycardia, Respiratory distres... ORPHA:79404
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Villous atrophy, Enterocolitis OMIM:616050
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency OMIM:618329
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Hematuria, Renal insufficiency, Abnormal heart valve morphology, Proteinuri... ORPHA:36412
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Gastroesophageal reflux, Abnormal heart rate variability ORPHA:206436
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Renal hypoplasia, Villous atrophy, Peripheral p... ORPHA:84064
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Dysphagia, Abnormal pattern of respiratio... ORPHA:506
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Duodenal stenosis, Abnormal lung morphology, Vesicoureteral r... ORPHA:2470
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer OMIM:616744
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, Malrotati... OMIM:601095
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Recurrent lower respiratory tract infections, Recurrent upper res... OMIM:209920
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula, Bladder diverticulum OMIM:223330
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Martinez-Frias Syndrome
Hypospadias, Duodenal atresia, Jejunal atresia, Intestinal malrotation, Intestinal hypoplasia, Tr... OMIM:601346
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, High palate, Cleft palate, Nephrotic syndrome, Pneumothorax, Intestinal malrotati... OMIM:601776
Loeys-Dietz Syndrome 4
High, narrow palate, Bicuspid aortic valve, High palate, Mitral valve prolapse, Pneumothorax, Bif... OMIM:614816
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Prolonged QRS complex, Respiratory insufficiency, Obstructive sleep apnea... ORPHA:273
Refractory Celiac Disease
Jejunitis, Protein-losing enteropathy, Villous atrophy, Malabsorption ORPHA:398063
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Pleural effusion, Polyuria, Protein-losing enteropathy, Hematochezia OMIM:618183
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Pulmonary fibrosis OMIM:619510
Aneurysm Of Sinus Of Valsalva
Edema, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Mitral regurgitation,... ORPHA:2556
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Macroglossia, Polyhydramnios ORPHA:254528
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Cor pulmonale, Hypospadias, Microscopic nephrocalcinosis, Recurrent bronchopulmonary infections, ... OMIM:219721
Cardiomegaly, Steatorrhea, Congestive heart failure, Respiratory failure, Fat malabsorption ORPHA:14
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Cleft palate, Stillbirth, Respiratory insufficiency OMIM:304120
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Dysphagia, Apnea OMIM:617301
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption ORPHA:309108
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Ventricular septal defect, High palate, Hydronephrosis, Micropenis, P... ORPHA:1655
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, Pulmonary hypoplasia, Tongue nodules, Glossoptosi... ORPHA:2886
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, High palate, Cleft palate, Abnormal heart morphology, Pneumotho... ORPHA:2953
Emphysema ORPHA:436
Myhre Syndrome
Hypertension, Ventricular septal defect, Cleft palate, Pericardial effusion, Respiratory insuffic... OMIM:139210
Ellis Van Creveld Syndrome
Dextrocardia, Hypospadias, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormalit... ORPHA:289
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Respiratory fa... ORPHA:79138
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Myocarditis, Pericarditis, Pneumonia, Endocarditis, Respiratory distress, Arteritis, Congestive h... ORPHA:533
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Nijmegen Breakage Syndrome
Cleft palate, Recurrent sinopulmonary infections, Anal atresia, Anal stenosis, Anorectal anomaly,... ORPHA:647
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hypoplastic colon, Hypoplasia of the small intestine, Enlarged kidney, Pu... OMIM:200995
Netherton Syndrome
Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Bifid uvula OMIM:601110
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Hydronephrosis, Urinary retention, Intestinal pse... OMIM:155310
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Meckel diverticulum, Patent foramen ovale OMIM:602613
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Urinary incontinence, Meckel diverticulum ORPHA:777
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Recurrent pneumo... OMIM:614700
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Respiratory distress, Respiratory tract infection, Pulmonary l... ORPHA:805
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Recurrent bronchitis, Anal atresia, Rec... ORPHA:1572
Trichohepatoenteric Syndrome 2
Colitis, Villous atrophy OMIM:614602
Chylopericardium, Pneumothorax, Hematuria, Pulmonary lymphangiomyomatosis, Gastrointestinal hemor... ORPHA:538
Down Syndrome
Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, Macroglossia, A... OMIM:190685
Trisomy 8P
Hydronephrosis, Cleft palate, Peripheral pulmonary artery stenosis, Abnormal lung lobation, Dyspl... ORPHA:264450
Fryns Syndrome
Hypospadias, Ventricular septal defect, Aganglionic megacolon, Cleft palate, Duodenal atresia, Me... OMIM:229850
Juvenile Polyposis Syndrome
Intestinal polyp, Rectal polyposis, Juvenile gastrointestinal polyposis, Stomach cancer, Neoplasm... ORPHA:2929
Ventricular septal defect, Right ventricular dilatation, Villous atrophy, Pericardial effusion, H... ORPHA:79328
Niemann-Pick Disease Type C
Fetal ascites, Dysphagia, Respiratory insufficiency, Ascites, Aspiration pneumonia, Abnormal lung... ORPHA:646
Colonic Atresia
Colonic atresia, Duodenal stenosis, Peptic ulcer ORPHA:1198
Myocarditis, Colon perforation, Pericarditis, Colitis, Endocarditis, Pneumothorax, Nephritis, Mel... ORPHA:73263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon, Polyhydramnios OMIM:619362
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Bladder diverticulum OMIM:219100
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Gastrointestinal atresia, Intestinal malrotation, Jejunoileal ulcerati... ORPHA:436252
Protein-losing enteropathy ORPHA:95428
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia, Pulmonary artery stenosis, ... ORPHA:96334
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Renal cyst, Fat malabsorption, Dark urine ORPHA:79303
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Villous atrophy, Bronchiectasis, Renovascular hypertension, Recurr... ORPHA:391487
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Villous atrophy, Ileus OMIM:304790
Fanconi Anemia
Hypertrophic cardiomyopathy, Hypospadias, Aganglionic megacolon, Cleft palate, High palate, Duode... ORPHA:84
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary interstitial lymphocyte infiltration, Recurrent respiratory infections, Villous atrophy OMIM:606367
Ear-Patella-Short Stature Syndrome
High, narrow palate, Cleft palate, Bifid uvula, Respiratory distress, Respiratory failure, Dyspne... ORPHA:2554
Fabry Disease
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Nephrotic syndrome, Abnormal aortic... ORPHA:324
Oculoskeletodental Syndrome
Macroglossia, Mucopolysacchariduria, Hypercalciuria, Protein-losing enteropathy OMIM:618440
Fat malabsorption OMIM:200100
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Pericardial effusion, Br... OMIM:181000
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Cleft palate, Abnormality of the small intestine, Abnormal heart m... OMIM:219000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Cleft palate, Ischemic stroke, Gastrointestinal dysmotility, Abnormal heart morphology... ORPHA:500150
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral valve calcification, Ventricular hypertrophy, Abnormality of the pulmonary artery, Aortic ... ORPHA:363618
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Chylomicron Retention Disease
Steatorrhea, Fat malabsorption ORPHA:71
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption OMIM:607765
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Cleft palate, Villous atrophy, Biventricular hypertrophy, Atrioventricula... OMIM:619573
Viss Syndrome
Patent ductus arteriosus, Submucous cleft soft palate, Emphysema, Ventricular septal defect, High... OMIM:619472
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Villous atrophy, Ileoileal intussusception, Increased intestinal ... OMIM:619377
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal stomach morphology, Intussusception, Urinary incontinence, ... ORPHA:512
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiectasis, Pyelonephritis, Bronchiolitis, Small bowel ... ORPHA:90348
Trichohepatoenteric Syndrome 1
Hypospadias, Ventricular septal defect, Villous atrophy, Bifid uvula, Pulmonic stenosis, Tetralog... OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Ulbright-Hodes Syndrome
High palate, Pneumothorax, Respiratory distress, Oligohydramnios, Respiratory failure, Pulmonary ... ORPHA:3404
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, High, narrow palate, Mitral valve prolapse, Tricuspid valv... ORPHA:284979
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Cleft palate, Patent ductus arteriosus, Ventricular septal defect, Abnormal lung lob... OMIM:312870
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Shwachman-Diamond Syndrome
Pneumonia, Abnormal heart morphology, Steatorrhea, Abnormality of the gastrointestinal tract, Fat... ORPHA:811
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Ventricular septal defect, Meckel diverticulum, Atrial septal defect, Tetralogy... OMIM:274000
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections, Cleft palate, Gastroesophageal reflux OMIM:616835
Ehlers-Danlos Syndrome, Vascular Type
Cystocele, Mitral valve prolapse, Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent intrap... OMIM:130050
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cleft palate, Bifid uvula, Respiratory failure, Dyspnea, Submucous cleft hard palate ORPHA:2636
Keutel Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Pulmonary ... OMIM:245150
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Neurogenic bladder ORPHA:96180
Marfan Syndrome
Bicuspid aortic valve, High palate, Pulmonary artery dilatation, Mitral valve prolapse, Pneumotho... OMIM:154700
Marfan Syndrome
High, narrow palate, Cleft palate, Pulmonary artery dilatation, Mitral valve prolapse, Mitral val... ORPHA:558
Tubulointerstitial nephritis, Bronchiectasis, Nephrocalcinosis, Pneumothorax, Nephrolithiasis, Pa... ORPHA:797
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Pneumonia, Bronchiectasis, Gastritis, Crohn's disease, Anoperine... OMIM:619381
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, High palate, Emphysema OMIM:614437
Isolated Biliary Atresia
Dark yellow urine, Fat malabsorption ORPHA:30391
Wolf-Hirschhorn Syndrome
Hypospadias, Ventricular septal defect, Cleft palate, Malrotation of small bowel, Atrial septal d... OMIM:194190
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tie1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tie1.

No publications found that use IMPC mice or data for Tie1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Tie1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tie1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter