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Gene: Tie1 MGI:99906

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
phenotypes		 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
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 3
Facial edema, Intestinal edema, Pharyngeal edema, Angioedema OMIM:610618
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... ORPHA:75249
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Ventricular septal defect, Atrial septal defect, R... OMIM:253300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Neonatal respiratory distress, Edema OMIM:267450
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Systemic Capillary Leak Syndrome
Hypotension, Cardiorespiratory arrest, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis... ORPHA:188
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hereditary Angioedema Type 1
Facial edema, Hypotension, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestina... ORPHA:100050
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Angioedema, Hereditary, 1
Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema OMIM:106100
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Respiratory failure ORPHA:70578
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... OMIM:261740
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Nemaline Myopathy 8
Polyhydramnios, Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Myocardial infarction, C... ORPHA:132
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ventricular failure,... ORPHA:90363
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... ORPHA:542323
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Tachycardia, Pedal edema, Systolic heart murmur, Abnormal ... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Congestive heart failure OMIM:616794
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Dysphagia, Respiratory failure, Death in infancy OMIM:225753
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... OMIM:619773
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Polyhydramnios, Respiratory failure OMIM:619334
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Preeclampsia
Elevated systolic blood pressure, Elevated diastolic blood pressure, Pulmonary edema, Helicobacte... ORPHA:275555
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Congenital Myopathy 14
Death in infancy, Respiratory insufficiency due to muscle weakness, Polyhydramnios, High palate, ... OMIM:618414
Lymphatic Malformation 3
Lymphedema OMIM:613480
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Part... ORPHA:2847
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent foramen ovale, Polyhydramnios, Dysphagia, Respiratory failu... OMIM:616867
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Anal atresia, Respiratory failure OMIM:276950
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect, Bradycardia, Respirator... OMIM:616277
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Polyhydramnios, Respiratory failure, Edema OMIM:607598
High Altitude Pulmonary Edema
Pulmonary edema, Tachycardia ORPHA:330012
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
White Sponge Nevus 2
Edema OMIM:615785
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Desq... OMIM:263000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Oligohydramnios, Abnormal pulmonary valve ... ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Pulmona... OMIM:619003
Acute Interstitial Pneumonia
Bronchiectasis, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thick... ORPHA:79126
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Angioedema, Pseudobulbar para... ORPHA:449285
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Edema, Stillbirth OMIM:152800
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Chron... OMIM:608647
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomegaly, Cardiomyopathy OMIM:105210
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema OMIM:153300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:266
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema OMIM:614100
Amyotrophic Lateral Sclerosis 28
Dysphagia, Respiratory failure OMIM:620452
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Respiratory failure requiring assisted ventilation, Abnormal tricuspid v... ORPHA:555874
Mogs-Cdg
Generalized edema, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal def... ORPHA:79330
Truncus Arteriosus
Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati... ORPHA:3384
Hepatic Veno-Occlusive Disease
Ascites, Respiratory failure ORPHA:890
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Cardiomyopathy, Dilated, 2H
Cardiorespiratory arrest, Secundum atrial septal defect, Muscular ventricular septal defect, Redu... OMIM:620203
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dysphagia, Respiratory failure, Respiratory failure requiring assisted vent... ORPHA:90117
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, High palate, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory insufficiency, Death in childhood, Death in infancy, Neonatal death, Bradycardia, Dys... OMIM:620265
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Respiratory insufficiency, High palate, Dysphagia, Respiratory failure, ... OMIM:614399
Nephronophthisis 2
Respiratory insufficiency, Oligohydramnios, Situs inversus totalis, Pulmonary insufficiency, Hype... OMIM:602088
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Dysphagia, Respiratory failure OMIM:618637
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Gastrointestinal infarctions, Prolonged QRS complex, Is... ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Endocarditis, Pulmonary fibrosis, Pleuritis, ... ORPHA:449280
Alg1-Cdg
Protein-losing enteropathy, Cardiomyopathy, Abnormal heart morphology, Abnormality of the gastroi... ORPHA:79327
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal respiratory distress, Reticular pattern on pulmonary HRCT, Usual i... OMIM:610921
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... ORPHA:568051
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Abnormal pericardium morphology, Gast... ORPHA:679
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus... ORPHA:340
Lymphatic Malformation 10
Lymphedema OMIM:619369
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia, Respiratory failure, Respiratory insufficiency due to ... ORPHA:2590
Tracheal Agenesis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory ... ORPHA:3346
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema ORPHA:171719
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory tract infection... ORPHA:308552
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... ORPHA:244242
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... ORPHA:254875
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Bronchiectasis, Atelectasis, Atrial situs ambiguous, Abnormal hear... ORPHA:244
Lymphatic Malformation 12
Neonatal respiratory distress, Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal dea... OMIM:620014
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Polyhydramnios,... OMIM:614922
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart mo... ORPHA:70472
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... OMIM:619445
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels OMIM:153200
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections, Lacticaciduria OMIM:619063
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Shock, Abnormal pulmonary interstitial morphology, Respir... ORPHA:178320
Intermediate Nemaline Myopathy
High, narrow palate, Dysphagia, Respiratory failure, Polyhydramnios ORPHA:171433
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Gastritis, Prolonged QT interval, ... ORPHA:31826
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Lipoid pneumonia, Respiratory failure OMIM:620326
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Pneumocystosis
Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ... ORPHA:723
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype... ORPHA:70589
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Median cleft palate, Respiratory failure ORPHA:1832
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Respiratory insufficiency, Neonatal death, High palate, Polyhydramnios, ... OMIM:618186
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy OMIM:619386
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmon... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Neonatal death, Ventricular septal defect, Cleft... OMIM:615524
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, High palate, Respiratory failure, Respiratory insufficiency OMIM:615330
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Respiratory insufficiency due to muscle weakness, Dysphagia, ... ORPHA:352447
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Intestinal malrotatio... ORPHA:210122
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Tongue atrophy, Dysphagia OMIM:613435
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... OMIM:300855
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Respiratory insufficiency, Congestive heart failure, Arrhythmia, Hydrops ... OMIM:609015
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency ORPHA:370968
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... OMIM:300048
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Oligohydramnios, Cardiomegaly, Impaired myocardial contractili... ORPHA:158687
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,... OMIM:614299
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Ventricular septal defect, Hypospadias, Pu... ORPHA:139466
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Respiratory failure, Recurrent respiratory infections, Lymphedema ORPHA:3226
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia, Respi... OMIM:310200
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Niemann-Pick Disease, Type C2
Fetal ascites, Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Deat... OMIM:607625
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... ORPHA:90186
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia OMIM:613502
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Pulmonary arterial hypertension, Res... OMIM:605711
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Death in childhood, Death in infancy, Cerebral hemorrhage, High... OMIM:620278
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... OMIM:611376
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure, Vasc... OMIM:620296
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Gastroesophageal reflux, Cardiorespiratory arrest, Thin skin, Congestive ... ORPHA:3342
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Respiratory failure, Subdural hemorrhage, Respiratory insufficiency due to muscle... OMIM:618291
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma... ORPHA:141127
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Recurrent respiratory infections, Respiratory failure, Aplasia/Hypoplasia of the ... ORPHA:2759
Japanese Encephalitis
Pulmonary edema, Cerebral edema ORPHA:79139
Avian Influenza
Pneumonia, Congestive heart failure, Pleural effusion, Pneumothorax, Respiratory failure, Miscarr... ORPHA:454836
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Gastroesophageal reflux, Recurrent infections due to aspiration, I... ORPHA:70
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Neonatal respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, ... OMIM:608836
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Respiratory failure OMIM:619483
Pulmonary Alveolar Microlithiasis
Bronchiectasis, Right ventricular failure, Bronchitis, Respiratory insufficiency, Subpleural inte... ORPHA:60025
Severe Congenital Nemaline Myopathy
Edema of the dorsum of hands, Polyhydramnios, Dysphagia, Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Gastroesophageal reflux, Cardiomyopathy, Respiratory insufficiency, Atelectasis, Re... ORPHA:258
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Dextrocardia
Meckel diverticulum, Abnormal lung lobation, Intestinal malrotation, Abnormal heart morphology, A... ORPHA:1666
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis ORPHA:254361
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Thymic Carcinoma
Neoplasm of the thymus, Palpebral edema, Mediastinal lymphadenopathy, Edema ORPHA:99868
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Duodenal stenosis ORPHA:1759
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Albuminuria, Dysphagia, Acute ki... ORPHA:90291
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Brain-Lung-Thyroid Syndrome
Webbed neck, Neonatal respiratory distress, Recurrent pneumonia, Patent foramen ovale, Ventricula... ORPHA:209905
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Abnormal lung mor... ORPHA:60032
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Polyhydramnios, High palate, Respiratory failure, Edema ORPHA:98905
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Death ... OMIM:220111
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadeno... ORPHA:3386
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Congestive heart failure, Oligohydramnios, Death in infancy, Death in ... OMIM:615512
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Respiratory failure... OMIM:618804
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Respiratory failure OMIM:613954
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Respiratory failure, Cardiomyopathy, Hepatocellular carcinoma ORPHA:88618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Dysphagia, Respiratory failure OMIM:606612
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Liver Disease, Severe Congenital
Pneumonia, Protein-losing enteropathy, Ascites, Dilatation of the ventricular cavity, Chronic gas... OMIM:619991
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Respiratory insufficiency, Mit... ORPHA:746
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Ventricular septal defect OMIM:617895
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Polyhydramnios, Dysphagia, Respiratory failure, Death in childhood OMIM:619847
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Respiratory failure ORPHA:363400
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Alpha-Heavy Chain Disease
Abnormal small intestine morphology ORPHA:100025
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Ar... ORPHA:26791
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, High palate, Dysphagia, Respiratory failure, Cleft palate OMIM:620249
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Patent ductus arteriosus, Duodenal stenosis ORPHA:2547
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Horseshoe kidney, Ventric... ORPHA:1708
Mercury Poisoning
Hypotension, Interstitial pneumonitis, Tachycardia, Hypertension, Respiratory failure ORPHA:330021
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusio... OMIM:620233
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Pleural effusion, Atelec... ORPHA:2902
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Congestive heart failure, Neonatal death, Pulmonary arterial hypertensio... OMIM:616482
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, G... OMIM:616843
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Glandular hypospadias, Penile hypospadias, Micropenis, High palate, Hypospadias OMIM:300219
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Atelectasis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Tr... ORPHA:365
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Death in childhood, Respiratory insufficiency due to muscle weakness... OMIM:220110
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Respiratory failure, Death in childhood OMIM:617186
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Horseshoe ... OMIM:235510
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Respiratory failure OMIM:618233
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Microcolon, Polyhydramnios, Neonatal death OMIM:619362
Postsynaptic Congenital Myasthenic Syndromes
High palate, Respiratory failure ORPHA:98913
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure, Cardiomyopathy ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Respiratory failure OMIM:616505
Diarrhea 9
Villous atrophy OMIM:618168
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis OMIM:244400
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Renal hypoplasia, Duodenal atresia, Ureteral stenosis, I... OMIM:270100
Alpha-1-Antitrypsin Deficiency
Bronchitis, Emphysema, Nephrotic syndrome, Bronchiectasis, Hepatocellular carcinoma ORPHA:60
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumonia, Pulmonary hyp... OMIM:613177
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Respiratory failure OMIM:604320
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Muscular Dystrophy, Congenital, With Or Without Seizures
Dysphagia, Respiratory failure OMIM:620166
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
Riddle Syndrome
Neonatal asphyxia, Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Telangiectasi... ORPHA:420741
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral... ORPHA:90349
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmona... ORPHA:538
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Emphysema, Pleural effusion, Renal insufficiency, Hematuria, Pro... ORPHA:36412
Boutonneuse Fever
Vasculitis, Respiratory failure ORPHA:83313
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Atelectasis, Respiratory insufficiency, Death in childhood, Cardiomegaly... OMIM:618278
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Renal hypoplasia, Atelectasis, Hamartoma of tongue, Intestinal malrotation,... OMIM:269860
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, Steatorrhea OMIM:602579
Poliomyelitis
Hypovolemic shock, Hypotension, Paralytic ileus, Dysphagia, Hypertension, Respiratory failure, Re... ORPHA:2912
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Death ... OMIM:610505
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Pleural effusion, Respiratory failure ORPHA:3015
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Atrial septal defect, Patent foramen ovale OMIM:620327
Geleophysic Dysplasia 3
Polyhydramnios, Pneumonia, Respiratory failure, Mitral regurgitation OMIM:617809
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Polyhydramnios, Dysphagia, Respiratory failure, Respiratory failure requirin... ORPHA:496641
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Recurrent respiratory infections, Aspiration pneumonia, Abnormal heart morphology,... ORPHA:2020
Amyotrophic Lateral Sclerosis
Tongue atrophy, Respiratory failure, Xerostomia, Dysphagia ORPHA:803
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Nephritis, Atelectasis, Pleural eff... ORPHA:73263
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Feingold Syndrome Type 1
Nephritis, Tricuspid stenosis, Abnormal heart morphology, Horseshoe kidney, Multiple muscular ven... ORPHA:391641
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Nocardiosis
Pneumonia, Abnormal heart valve morphology, Emphysema, Pleural effusion, Pneumothorax, Endocardit... ORPHA:31204
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure... OMIM:155310
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency OMIM:618329
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, D... OMIM:252010
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Edema, Congestive heart failure ORPHA:1054
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Ventricular septal defect, Hydronephrosis, Pulmonary lymphangiectasia... OMIM:235255
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Anasarca, Respiratory insufficiency, Ascites, Intestinal malrotation, Em... OMIM:613658
Netherton Syndrome
Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney ORPHA:634
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneu... ORPHA:731
Osteopetrosis, Autosomal Recessive 5
Ascites, Respiratory failure, Stillbirth OMIM:259720
Hypophosphatasia
Emphysema ORPHA:436
Fraser Syndrome 2
Intestinal malrotation, Oligohydramnios, Rectal atresia, Anal atresia, Respiratory failure OMIM:617666
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Neona... OMIM:620244
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Bradycardia, Dysphagia, Respiratory failure OMIM:617248
Matthew-Wood Syndrome
Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, Abnormal lung morph... ORPHA:2470
Infantile Krabbe Disease
Gastroesophageal reflux, Respiratory failure, Abnormal heart rate variability ORPHA:206436
Bloom Syndrome
Pneumonia, Gastroesophageal reflux, Bronchitis, Neoplasm of the colon, Stomach cancer, Respirator... ORPHA:125
Costello Syndrome
Webbed neck, Respiratory insufficiency, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventr... OMIM:218040
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect, Gastrointestina... ORPHA:506
Ellis Van Creveld Syndrome
Hydroureter, Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Abnormali... ORPHA:289
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Respiratory failure ORPHA:2707
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Death in childhood, Death in infan... OMIM:608978
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp... OMIM:601346
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal renal physiology, Abnormal small intestinal villus mo... ORPHA:2290
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Down Syndrome
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Protruding tongue, Complet... OMIM:190685
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Macroglossia, Respiratory failure ORPHA:254528
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Pleural e... OMIM:618183
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Ventricular septal defect, Hydronephrosis, Pulmonary lymphangiectasia... ORPHA:1655
Abetalipoproteinemia
Congestive heart failure, Cardiomegaly, Steatorrhea, Fat malabsorption, Respiratory failure ORPHA:14
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Dilated cardiomyopathy, Intestinal pseudo-obstruction, Oral-pha... ORPHA:273
Common Variable Immunodeficiency
Pneumonia, Recurrent respiratory infections, Emphysema, Recurrent bronchitis, Gastrointestinal st... ORPHA:1572
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Functional abnormality of the bladder, Abnormal heart morphology, Abn... ORPHA:2953
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Miscarriage, Myocarditis, Respiratory failure, En... ORPHA:533
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Dehydration, Esophageal stricture, Pneumothorax, Gastrointesti... ORPHA:79404
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Mitral valve prolapse, Eosinophilic inf... OMIM:614816
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... OMIM:615710
Tarp Syndrome
Tetralogy of Fallot, Horseshoe kidney, Hydronephrosis, Abnormal duodenum morphology, Atrial septa... ORPHA:2886
22Q11.2 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Anal atresia, Hypospadias, Patent ductus arterio... ORPHA:567
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Respiratory failure OMIM:617301
Tarp Syndrome
Meckel diverticulum, Tetralogy of Fallot, Horseshoe kidney, Hydronephrosis, Atrial septal defect,... OMIM:311900
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Atrial septal defect, Polyhydramnios, High palate, Hydrops fetalis, Respiratory... OMIM:300868
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Atelectasis, Recurrent respiratory infections, Cleft palate ORPHA:2314
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Myhre Syndrome
Aortic valve stenosis, Respiratory insufficiency, Ventricular septal defect, Atrial septal defect... OMIM:139210
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Extrapulmonary lobar sequestration, Enlarge... OMIM:200995
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal rectum mor... ORPHA:2556
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re... OMIM:619708
Relapsing Polychondritis
Anteriorly placed anus, Atelectasis, Renal insufficiency, Abnormal aortic valve morphology, Hemat... ORPHA:728
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Jejunitis ORPHA:398063
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Pulmonary fibrosis OMIM:619510
Lujo Hemorrhagic Fever
Oliguria, Atelectasis, Renal insufficiency, Microscopic hematuria, Myocarditis, Dysphagia, Odynop... ORPHA:319213
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent pneumonia, Recurrent respiratory infections, Anal atresia, Recurrent sin... ORPHA:647
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia, Recurrent... OMIM:256500
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Immunodeficiency 31C
Protein-losing enteropathy, Villous atrophy, Recurrent respiratory infections, Gastrointestinal e... OMIM:614162
Fryns Syndrome
Meckel diverticulum, Chylothorax, Intestinal malrotation, Ventricular septal defect, Hydronephros... OMIM:229850
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral reflux, Complete atriove... OMIM:617063
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption ORPHA:309108
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Villous ... OMIM:614700
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... ORPHA:2929
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pleural effusion, Hypercalciuria, Pulmonary fibro... OMIM:181000
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Peripheral... ORPHA:264450
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Ventricular septal defect OMIM:123700
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis, Respiratory failure, Respirato... ORPHA:79138
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Internal hemorr... ORPHA:805
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Mitral valve prolapse, Hiatus hernia, Tricuspid valve prolapse, Hydroneph... OMIM:601776
Mhc Class Ii Deficiency 1
Colitis, Recurrent lower respiratory tract infections, Villous atrophy, Recurrent upper respirato... OMIM:209920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonary artery st... ORPHA:96334
Niemann-Pick Disease Type C
Fetal ascites, Respiratory insufficiency, Ascites, Aspiration pneumonia, Abnormal lung morphology... ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Farber Disease
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Bladder diverticulum, Peripheral pulmonary artery stenosis, Recurrent respiratory infe... OMIM:219100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Patent foramen ovale, Cardiomegaly, High palate, Pulmonary artery atresia, Narrow pa... OMIM:620371
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Emphysema, Abnormality of the pulmonary artery, M... ORPHA:363618
Oculoskeletodental Syndrome
Hypercalciuria, Protein-losing enteropathy, Macroglossia, Mucopolysacchariduria OMIM:618440
Fabry Disease
Nephropathy, Hypertrophic cardiomyopathy, Emphysema, Renal insufficiency, Abnormal aortic valve m... ORPHA:324
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Mitral valve prolapse, High palate, Repeated pneumothoraces, Pulmonary hypoplasia ORPHA:536467
Chand Syndrome
Bifid tongue, Atelectasis, Hydroureter, Cleft palate ORPHA:1401
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Viss Syndrome
Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac... OMIM:619472
Fanconi Anemia
Meckel diverticulum, Hydroureter, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Hypertrophi... ORPHA:84
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Emphysema, Transient ischemic at... ORPHA:500150
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Pleural effusion, Atelectasis, Rectal abscess OMIM:306400
Digeorge Syndrome
High, narrow palate, Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Unilateral renal ... OMIM:188400
Fraser Syndrome 1
Renal hypoplasia, Abnormal heart morphology, Abnormal small intestine morphology, Abnormality of ... OMIM:219000
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis OMIM:616395
Neonatal Marfan Syndrome
High, narrow palate, Abnormal cardiac ventricle morphology, Emphysema, Mitral valve prolapse, Tri... ORPHA:284979
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Abnormal lung lobation, Abnormal heart morphology, Villous ... ORPHA:79328
Joubert Syndrome 21
Dysphagia, Respiratory failure, Pulmonary hypoplasia OMIM:615636
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver... ORPHA:90348
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Functional abnormality of the bladder, Villous atro... ORPHA:391487
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal def... OMIM:619573
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Urinary incontinence, Neoplasm of the ... ORPHA:512
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Submucous cleft hard palate, Respiratory failure, Cleft palate ORPHA:2554
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections, Gastroesophageal reflux, Cleft palate OMIM:616835
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Horseshoe kidney, Vesico... OMIM:274000
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Gastroesophageal reflux, Oligosacchariduria, Atelectasis, Recurr... ORPHA:534
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Ventricular septal defect, Hepatoblastoma, Atrial septal defect... OMIM:312870
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Atrial septal defect, Stillbirth, Respiratory failure, Cleft palate OMIM:304120
Marfan Syndrome
Mitral annular calcification, Pulmonary artery dilatation, Emphysema, Mitral valve prolapse, Bicu... OMIM:154700
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ... OMIM:606170
Meier-Gorlin Syndrome 1
Gastroesophageal reflux, Emphysema, Micropenis, High palate, Cleft palate OMIM:224690
Sarcoidosis
Nephrocalcinosis, Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology, Enlargement of p... ORPHA:797
Ulbright-Hodes Syndrome
Oligohydramnios, Pneumothorax, High palate, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, High palate, Right ventricular... OMIM:614437
Marfan Syndrome
High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Mitral val... ORPHA:558
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Cleft palate, Respiratory failure, Submucous cleft hard palate ORPHA:2636
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Anoperineal fistula, Bronchitis, Villous atrophy, Crohn's disease, Gastritis, Colitis,... OMIM:619381
Plague
Inflammation of the large intestine, Ileitis, Enterocolitis, Hematemesis, Acute infectious pneumo... ORPHA:707
Sotos Syndrome
Small cell lung carcinoma, Gastroesophageal reflux, Abnormal heart morphology, Renal insufficienc... ORPHA:821
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Ventricular septal defect, Atrial septal def... OMIM:194190
Proteus Syndrome
Pulmonary cyst, Long penis, Bronchogenic cyst, Abnormal lung lobation, Renal cyst, Pulmonary bull... ORPHA:744

Histopathology

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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Endothelial TIE1 Restricts Angiogenic Sprouting to Coordinate Vein Assembly in Synergy With Its Homologue TIE2. Arteriosclerosis, thrombosis, and vascular biology (June 2023) Tie1tm1a(KOMP)Wtsi 37317851

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.

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

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