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
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Angioedema, Hereditary, 3
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic upper airway obstruction OMIM:610618
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left a... ORPHA:75249
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Lymphatic Malformation 2
Lymphedema OMIM:611944
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Hypotension, Cough,... ORPHA:188
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiomatosis, Hemothora... ORPHA:199241
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dysmotility, Abno... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat... ORPHA:563
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... ORPHA:980
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema OMIM:106100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Polyhydramnios, Dysphagia OMIM:615348
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... ORPHA:132
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Polyhydramnios OMIM:616794
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Polyhydramnios, Dysphagia 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
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Congenital Myopathy 14
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir... OMIM:618414
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophi... OMIM:616277
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Cardiomegal... ORPHA:79330
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... ORPHA:178320
Lymphatic Malformation 3
Lymphedema OMIM:613480
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... ORPHA:2847
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure OMIM:607598
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Stillbirth, Anal atresia OMIM:276950
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Polyhydramnios, Respiratory failure, Pulmonary hypoplasia, Dysphag... OMIM:616867
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica... ORPHA:555874
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Snakebite Envenomation
Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Neuromuscular dysphagia, Intrac... ORPHA:449285
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
White Sponge Nevus 2
Edema OMIM:615785
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Cardiomegaly, Crackles, Dyspnea, ... ORPHA:99931
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... ORPHA:3384
Intermediate Nemaline Myopathy
Polyhydramnios, High, narrow palate, Cardiomyopathy, Respiratory failure, Dysphagia ORPHA:171433
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... ORPHA:36238
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal pulmonary valve morphology, Congestive heart failure, Respiratory fail... ORPHA:1194
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... ORPHA:244
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, N... OMIM:619003
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... OMIM:620326
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... ORPHA:340
Hepatic Veno-Occlusive Disease
Respiratory failure, Ascites ORPHA:890
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema OMIM:152800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness, High palate OMIM:611890
Nephronophthisis 2
Situs inversus totalis, Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary h... OMIM:602088
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Respiratory failure, Dysphagia OMIM:618637
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate ORPHA:1832
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... ORPHA:308552
Hellp Syndrome
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... ORPHA:244242
Bronchogenic Cyst
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... ORPHA:2357
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Abnormal pericardium... ORPHA:679
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency, P... ORPHA:3346
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Abnormality of the gastrointestinal tract, Abnormal heart morphology, Cardiomyopathy, Respiratory... ORPHA:79327
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... ORPHA:568051
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Lymphatic Malformation 10
Lymphedema OMIM:619369
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Death in child... OMIM:614922
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Respiratory failure, Gastroesophageal reflux... ORPHA:70472
Scorpion Envenomation
Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Myocarditis, Congestive ... ORPHA:466677
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis, Microvillar... OMIM:619445
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophageal r... OMIM:618186
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... OMIM:300855
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Dysphagia, Neon... OMIM:619751
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Hyperekplexia 4
Respiratory failure, High palate OMIM:618011
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... OMIM:245650
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... ORPHA:352447
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:210122
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, High palate, Polyhydramnios OMIM:615330
Muscular Dystrophy, Duchenne Type
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Respiratory failure, Dysphagia OMIM:613435
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... OMIM:615524
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... OMIM:115470
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res... OMIM:609015
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati... ORPHA:79139
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency ORPHA:370968
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhyd... ORPHA:2759
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy, Respiratory failure, Impaired myocardial contractilit... ORPHA:158687
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema, Right ventricular hype... ORPHA:70589
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Death in childh... OMIM:620278
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Pu... ORPHA:139466
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Recurrent respiratory infections, Respiratory failure, Lymphedema ORPHA:3226
Meige Disease
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen... ORPHA:90186
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Intercost... ORPHA:70
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus h... ORPHA:3342
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh... OMIM:618291
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Respiratory insuf... OMIM:607625
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Intercostal muscle weakness, Respiratory insuffi... ORPHA:258
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano... OMIM:611376
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Nar... OMIM:608836
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... ORPHA:98913
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Protein-losing enteropathy OMIM:613502
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Anterio... OMIM:220111
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Respiratory failure, Pulmonary hypoplasia, Dysphagia ORPHA:171430
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... ORPHA:98905
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Patent ductus a... ORPHA:141127
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... OMIM:615512
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Liver Disease, Severe Congenital
Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, C... OMIM:619991
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... ORPHA:90291
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung lobation, Abnormality... ORPHA:1666
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Congestive heart failure, Cardiorespiratory arrest, Abnormal heart morphology, Cardiomyo... ORPHA:26791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia OMIM:606612
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Cardiomegaly, Respiratory tract infec... ORPHA:365
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology ORPHA:803
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Dysphagia OMIM:613954
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Respiratory failure, Hydrops fetalis, Hepatocellular carcinoma ORPHA:88618
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Res... ORPHA:746
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Gastroesophag... OMIM:616482
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... OMIM:620249
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Respir... OMIM:618804
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... ORPHA:95430
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure, Polyhydramnios, Dysphagia OMIM:619847
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Respiratory failure ORPHA:363400
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia ORPHA:254361
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Patent ductus arteriosus, Hypoplasia of penis, Duodenal stenosis ORPHA:2547
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Cerebral edema, Death in childhood OMIM:617186
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Hypospadias, Abnormal lung ... ORPHA:1708
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff... ORPHA:3015
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... OMIM:243150
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Emphysema ORPHA:60
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Dysphagia OMIM:620166
Whim Syndrome
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... ORPHA:51636
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Polyhydramnios, Hypercapnia, Respiratory insufficiency due to m... ORPHA:2020
Idiopathic Bronchiectasis
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... ORPHA:60033
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag... ORPHA:420741
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation OMIM:617809
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... OMIM:618913
Diarrhea 9
Villous atrophy OMIM:618168
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Re... OMIM:235510
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing enteropathy OMIM:608104
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Narrow palate OMIM:616505
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... OMIM:618278
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Atelectasis, Glandular hypospadias, High palate, Micropenis, Penile hypospadias OMIM:300219
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Atrial septal defect... OMIM:620244
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir... OMIM:610505
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Bradycardia, Dysphagia, Neonatal death, R... OMIM:617248
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Atelectasis, Pleural effusion, Hypersensitivity pneumo... ORPHA:2902
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... OMIM:612387
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Respiratory failure requiring assisted ventilation, Paralytic ileus, Hypertension, Respiratory fa... ORPHA:2912
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology, Mitral valve prolapse, G... OMIM:620233
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Respiratory failure, Patent foramen ovale OMIM:620327
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... ORPHA:79127
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ureteral duplication, Ventricular septal defect,... OMIM:270100
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Respiratory failure, Dyspnea ORPHA:2707
Boutonneuse Fever
Respiratory failure, Vasculitis ORPHA:83313
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal varix, Abnormal pulmonary inte... OMIM:613658
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Polyhydramnios, Recurrent pneumonia, Respirat... ORPHA:496641
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Gastroesophageal reflux, Pul... OMIM:613177
Feingold Syndrome Type 1
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal at... ORPHA:391641
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Aspiration pneumonia ORPHA:70588
Macroglossia, Protein-losing enteropathy ORPHA:79320
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Patent ductu... OMIM:269860
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respi... OMIM:252010
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency OMIM:618329
Bloom Syndrome
Pneumonia, Bronchitis, Esophageal neoplasm, Respiratory tract infection, Chronic pulmonary obstru... ORPHA:125
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Gastroesophageal reflux, Abnormal heart rate variability ORPHA:206436
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Porta... ORPHA:731
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Pulmonary lymphangiectasia, Cleft palate, High palate, Protein-losing ... OMIM:235255
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Esophageal stricture, Dilated cardiomyopathy, Pn... ORPHA:79404
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Gastrointestinal dysmotility, Respiratory fa... ORPHA:506
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Atelectasi... ORPHA:538
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Tracheomalacia, Pyloric stenosis, Pneumothorax, Respir... OMIM:218040
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Ascites, Respiratory failure OMIM:259720
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Respiratory failure, Anal atresia, Oligohydramnios OMIM:617666
Matthew-Wood Syndrome
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Pulmonary hypopl... ORPHA:2470
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... OMIM:601346
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Refractory Celiac Disease
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption ORPHA:398063
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Gastritis, Hematemesis, Myocardit... ORPHA:73263
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Dysphagia OMIM:617301
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Respiratory failure, Polyhydramnios ORPHA:254528
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... ORPHA:533
Down Syndrome
Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Functional abnormality of... ORPHA:90362
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Atrial fibrillation, Intestinal pseudo-obstru... ORPHA:273
Cardiomegaly, Congestive heart failure, Respiratory failure, Steatorrhea, Fat malabsorption ORPHA:14
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Pulmonary lymphangiectasia, High palate, Protein-losing enteropathy, M... ORPHA:1655
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Malrotation of small bowel, Pneumothorax, Functional abnormality... ORPHA:2953
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Mitral valve prol... ORPHA:2556
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Polyhydramnios, Hydrops fetalis, Respiratory failure, High palate, Atrial septa... OMIM:300868
Tarp Syndrome
Tetralogy of Fallot, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, A... OMIM:311900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Tarp Syndrome
Tetralogy of Fallot, Cleft palate, Horseshoe kidney, Glossoptosis, Pulmonary hypoplasia, Abnormal... ORPHA:2886
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia, Prote... OMIM:618183
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Syndromic Diarrhea
Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Gastritis, Ventricular septal defec... ORPHA:84064
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Pyelon... ORPHA:90349
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques... OMIM:200995
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cleft palate, Respiratory insufficiency, Hyperte... OMIM:139210
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Vesicoureteral reflux, Atrial... ORPHA:567
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Recurrent upper respiratory tract infections, Colitis, Recurrent ... OMIM:209920
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Pulmonary fibrosis OMIM:619510
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Anorectal an... ORPHA:647
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinusitis OMIM:615636
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
Fryns Syndrome
Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Ventricular septal defect, H... OMIM:229850
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu... OMIM:617063
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cleft palate ORPHA:2314
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Ate... ORPHA:728
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Recurrent infection of the gastrointestinal tr... OMIM:256500
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Respiratory... ORPHA:805
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Immunodeficiency 31C
Recurrent respiratory infections, Villous atrophy, Bronchiectasis, Gastrointestinal eosinophilia,... OMIM:614162
Lujo Hemorrhagic Fever
Renal insufficiency, Myocarditis, Odynophagia, Atelectasis, Oliguria, Dysphagia, Microscopic hema... ORPHA:319213
Trisomy 8P
Abnormal atrioventricular connection, Malrotation of small bowel, Abnormal left ventricle morphol... ORPHA:264450
Protein-losing enteropathy ORPHA:95428
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Ellis Van Creveld Syndrome
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... ORPHA:289
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Miscarriage, Pulmonary artery stenosis... ORPHA:96334
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Fat malabsorption, Renal cyst, Steatorrhea ORPHA:79303
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Recurrent pneum... OMIM:614700
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Mitral valve prolapse, Nephrot... OMIM:601776
Niemann-Pick Disease Type C
Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Respiratory insufficiency, Respiratory ... ORPHA:646
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Oculoskeletodental Syndrome
Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, Hypercalciuria OMIM:618440
Ear-Patella-Short Stature Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Submucous cleft hard palate, Cleft palate, Re... ORPHA:2554
Fanconi Anemia
Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Abnormal preputium morpholo... ORPHA:84
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia, Cleft palate, Abnormal heart ... OMIM:219000
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum OMIM:616395
Farber Disease
Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT ORPHA:333
Fat malabsorption OMIM:200100
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,... ORPHA:1572
Villous atrophy, Ventricular septal defect, Ureteral hypoplasia, Pericardial effusion, Abnormal l... ORPHA:79328
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Submucous cleft soft palate, Gastrointestina... ORPHA:500150
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, High palate, Pulmonary hypoplasia ORPHA:536467
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Chand Syndrome
Atelectasis, Bifid tongue, Cleft palate, Hydroureter ORPHA:1401
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Esophageal carcinoma, Recurrent upper respiratory tract infections, Enterocoliti... ORPHA:391487
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Viss Syndrome
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... OMIM:619472
Digeorge Syndrome
Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, A... OMIM:188400
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum... ORPHA:512
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Rectal abscess OMIM:306400
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... OMIM:619573
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, C... OMIM:274000
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Pyelonephritis, ... ORPHA:90348
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Cutis Laxa, Autosomal Dominant 1
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypercalciuria,... OMIM:181000
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Malabsorption, Atelectasis, P... ORPHA:534
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Exaggerated median tong... OMIM:312870
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, High palate, Pulmonary hypoplasia, Oligo... ORPHA:3404
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Cleft palate, Respiratory failure, Stillbirth, Atrial septal defect OMIM:304120
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Pneumonia, Abnormal heart morphology, Steatorrhea, Fat... ORPHA:811
Genitopatellar Syndrome
Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect, Malrotation of small bowe... OMIM:606170
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Bifid uvula ORPHA:2636
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Neurogenic bladder ORPHA:96180
Isolated Biliary Atresia
Acholic stools, Fat malabsorption, Dark yellow urine ORPHA:30391
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Bronchitis, Pneumonia, Bronchiectasis, Colitis, Anope... OMIM:619381
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Hypospadias, Malrotation of small bowel, Cleft palate, Gastroesophagea... OMIM:194190


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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