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Gene: Pdgfa MGI:97527

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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:
platelet derived growth factor, alpha
Synonyms:
N/A

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 Pdgfa 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Diarrhea 9
Villous atrophy OMIM:618168
Jejunal Atresia
Jejunal atresia OMIM:243600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmona... OMIM:612387
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Cystic Disease Of Lung
Multiple pulmonary cysts, Spontaneous neonatal pneumothorax OMIM:219600
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he... ORPHA:2257
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature, Portal hypertension OMIM:210050
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pu... ORPHA:36238
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Ground-... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive... ORPHA:1302
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema ORPHA:60
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Duodenal Atresia
Duodenal atresia OMIM:223400
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... ORPHA:185
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Fanconi-Like Syndrome
Recurrent lower respiratory tract infections, Multiple bilateral pneumothoraces OMIM:227850
Hypophosphatasia
Emphysema, Short stature, Respiratory insufficiency ORPHA:436
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... ORPHA:724
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Pneumothorax, Primary Spontaneous
Spontaneous pneumothorax OMIM:173600
Pulmonary Bullae Causing Pneumothorax
Repeated pneumothoraces OMIM:265200
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Ground-glass opacification, Nonproductive coug... ORPHA:454836
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Parkinsonism-Dystonia 3, Childhood-Onset
Growth delay, Pneumothorax OMIM:619738
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... ORPHA:860
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Pectus excavatum, Chronic ... OMIM:619825
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Atrial situs ambiguous, Abnorm... ORPHA:244
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cardio... ORPHA:555874
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Splenomegaly, Emphy... ORPHA:36412
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the skin, Bronchiectasis OMIM:620321
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelectasis, Dyspnea... OMIM:620233
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Birt-Hogg-Dube Syndrome 1
Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax OMIM:135150
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Short stature OMIM:613804
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Right ventricular failur... ORPHA:324604
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... ORPHA:538
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Pneumothorax, Mitral valve prolapse, Emphysema, Bruising susc... OMIM:614816
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit... ORPHA:1916
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Atrial septal defect, Camptodactyly of finger ORPHA:896
3-Methylglutaconic Aciduria Type 7
Growth delay, Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E... OMIM:242700
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal... OMIM:300219
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma, Short stature ORPHA:634
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Myopathy, Abnormal pleura morphology ORPHA:2571
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Severe short stature, Congestive heart failure, Dilatation... ORPHA:90349
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Repeated pneumothoraces, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:617602
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Spontaneous pneumothorax OMIM:618154
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Portal hypertension OMIM:620365
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormal pleura morphology, Crackles, Dyspnea, Myocardial fibrosis, Hepatosp... ORPHA:210136
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:300717
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Short stature, Subretinal pigment epithelium hemorrhage, Postnatal growth ... ORPHA:357074
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Pectus excavatum, Emphysema, S... OMIM:219100
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art... OMIM:265400
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, Neonatal d... OMIM:611890
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... OMIM:244400
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Atelectasis, Myocar... ORPHA:73263
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Decreased muscle mass, Abnormal heart valve morphology, Pneumothorax, Abnormal... ORPHA:2953
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Centril... OMIM:265450
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Short statur... ORPHA:324
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Short stature, Ventricular septal defe... ORPHA:2962
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo... OMIM:613177
Meckel Syndrome 14
Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, Pulmonary ... OMIM:619879
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculitis, Bronchiectasis, Restrictiv... ORPHA:1572
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... ORPHA:3384
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Hypospadias OMIM:619334
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Cardiomyopathy, Pulmonary arterial hypertension, Pulmonary hypopla... OMIM:619003
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis, Respiratory failure, Respiratory insufficiency ORPHA:370968
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Macroglossia, Facial palsy, Atelectasis, ... ORPHA:258
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Emphysema, Bronchiectasis, Abnormal pu... OMIM:181000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology ORPHA:2582
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Flexion contracture, Hypertension, Pulmonary ... OMIM:616733
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a... ORPHA:75249
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation ORPHA:1201
Intussusception
Intussusception OMIM:147710
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Postnata... ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Hepatomegaly... ORPHA:365
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypopla... ORPHA:2570
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Short stature, Nodular pattern on pulmonary HRCT, ... ORPHA:333
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Patent foramen ovale, Right ventr... OMIM:614261
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Fl... ORPHA:284979
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Cardiomyopathy, Hypertension, Pleuritis ORPHA:767
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber predominance, Right ve... OMIM:612949
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Pect... OMIM:154700
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ... ORPHA:3099
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Atelectasis, Splenomegaly, Respiratory insufficiency, Pu... OMIM:269860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Pectus exc... OMIM:618278
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Short stature, Bicuspid aortic valve, Hypoplasia o... OMIM:612289
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Severe short stature, Emphysema, Delayed puberty, Tracheobronch... OMIM:616835
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Atelectasis, Nonp... ORPHA:319213
Aspergillosis
Sinusitis, Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dyspnea, Chronic ... ORPHA:1163
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short stature, Spontaneous neonatal pneumothorax, Postnatal growth retardation, Gingival bleeding... OMIM:225410
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cough ORPHA:2314
Costello Syndrome
Barrel-shaped chest, Atrial septal defect, Short stature, Ventricular septal defect, Rhabdomyosar... OMIM:218040
Refractory Celiac Disease
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption ORPHA:398063
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Nemaline Myopathy 8
Respiratory failure OMIM:615348
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Portal hypertension, Pectus excavatum, Tachypnea, Abnormal pulmonary interstitial ... OMIM:613658
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Joint... OMIM:617403
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Short stature, Pneumothorax, Mitral valve prolapse... OMIM:617402
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Postnatal growth retardation, Congestive heart failure, Dilatation of the v... ORPHA:90348
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit... OMIM:265120
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypopl... OMIM:245150
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Bifid uvula OMIM:601110
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Crackles, Ground-glass opacification, Respiratory tract i... ORPHA:79128
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Abnormal pleura morphology, Po... ORPHA:797
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Pectus excavatum, Pneumothorax, M... OMIM:601776
Meier-Gorlin Syndrome 1
Respiratory distress, Flexion contracture, Birth length less than 3rd percentile, Camptodactyly, ... OMIM:224690
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Short stature, Postnatal growth retardation, Sple... OMIM:609981
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Hypergonadotropic... ORPHA:352447
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Pontocerebellar Hypoplasia, Type 4
Respiratory failure OMIM:225753
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Respiratory failure ORPHA:70472
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Pleuritis OMIM:609939
Hyperekplexia 4
Respiratory failure OMIM:618011
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lung morphology, Myocar... ORPHA:549
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Growth d... ORPHA:79404
Cystic Fibrosis
Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one second, Asth... ORPHA:586
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture OMIM:619708
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Atelectasis, Splenomegaly, Recurrent pneumonia, Air bronchogram, Cough, Pleural eff... OMIM:306400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea OMIM:616277
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Short stature, Postnatal growth retard... ORPHA:2834
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... ORPHA:90060
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pectus excavatum, Emphysema, Bradycardia, Pulmonary artery aneur... OMIM:614437
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial i... ORPHA:183
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothor... ORPHA:2038
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex cong... OMIM:208085
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Recurrent upper and lower respiratory tract in... OMIM:620014
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Pectus excavatum, ... ORPHA:558
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Dyspnea, Atelectasis, Myocarditis, Large vessel va... ORPHA:728
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Atrial septal defect, Epidural ... OMIM:619472
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... ORPHA:90362
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy... OMIM:613404
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Chronic Graft Versus Host Disease
Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Pulmonary infiltrates, Bron... ORPHA:99921
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... ORPHA:3404
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:245400
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Yao Syndrome
Ventricular hypertrophy, Asthma, Pericarditis, Pleuritis OMIM:617321
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Warburg-Cinotti Syndrome
Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Flexion contracture of finger... OMIM:618175
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Proximal muscle weakness in lower limbs, Flexion contracture of toe, Atrial... ORPHA:280633
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Respiratory failure, Respiratory distress OMIM:617895
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Respiratory failure, Hypospadias ORPHA:1194
Multiple Osteochondromas
Pneumothorax, Short stature, Hemothorax ORPHA:321
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Sple... ORPHA:731
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Short stature, Facial palsy, Right ventricular hypertrophy, Atr... OMIM:620186
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Congenital Multicore Myopathy With External Ophthalmoplegia
Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory system physiology, Respiratory fai... ORPHA:98905
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Sézary Syndrome
Splenomegaly, Skeletal muscle atrophy, Abnormal pleura morphology, Hepatomegaly ORPHA:3162
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv... ORPHA:90308
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Short stature, Ventricular septal defect, Abnormal pulmonary valve m... ORPHA:567
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at... ORPHA:57777
Systemic Lupus Erythematosus
Pericarditis, Pleuritis OMIM:152700
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Left ventricular hypertrophy... OMIM:613795
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Hepatomegaly, Dyspn... ORPHA:809
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Respiratory failure ORPHA:171430
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Cardiomegaly, Nonproductive cough, Atrial septal def... ORPHA:980
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... ORPHA:2848
Familial Mediterranean Fever, Autosomal Dominant
Pleuritis OMIM:134610
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Proportionate short stature, Abnormal heart ... ORPHA:500150
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Irregular menstruation, Uterine leiomyoma, Respiratory failu... OMIM:616482
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val... OMIM:267010
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Atrophic gastritis, Colitis, Villous atrophy OMIM:614700
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Felty Syndrome
Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent pharyngitis, S... ORPHA:47612
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure OMIM:619386
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo... OMIM:108900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy... ORPHA:308552
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Myocarditis, Recurrent pharyngitis, Splenomegaly, Restrictive ventila... ORPHA:829
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Clitoral hypertrophy ORPHA:2707
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis, Respiratory failure OMIM:619847
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Granulomatosis With Polyangiitis
Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Respiratory insufficiency... OMIM:608710
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Recurrent pharyngitis,... ORPHA:397
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Short stature, Abnormal... ORPHA:286
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Loeys-Dietz Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Spontaneous pneumothorax, Pectus excavatum, Bicuspid... OMIM:610168
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pleuritis OMIM:142680
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Chand Syndrome
Atelectasis ORPHA:1401
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Alg6-Cdg
Macroglossia, Protein-losing enteropathy ORPHA:79320
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Scapular winging, Mild postnatal growth retardation, Bicuspid a... OMIM:150230
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Respiratory failure OMIM:620327
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard... ORPHA:3452
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Facial hypotonia, Congeni... OMIM:312870
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Duodenal Atresia
Duodenal atresia ORPHA:1203
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Steatorrhea OMIM:212065
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardiac death, Myocardial i... ORPHA:36426
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Digeorge Syndrome
Short stature, Ventricular septal defect, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmo... OMIM:188400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Combined Oxidative Phosphorylation Deficiency 11
Neonatal death, Respiratory failure, Stillbirth OMIM:614922
Mucopolysaccharidosis Type 7
Splenomegaly, Recurrent respiratory infections, Abnormal pleura morphology ORPHA:584
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog... ORPHA:1764
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Growth delay, Pulmonary embolism ORPHA:567548
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea OMIM:615838
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Short stature, Atelectasis, Respiratory insufficiency, Delayed ... ORPHA:534
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Sudden cardi... ORPHA:537
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic l... ORPHA:2554
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent... ORPHA:900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure OMIM:610678
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Hypospadias, Asthma, Recurrent pneumonia, Re... ORPHA:209905
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Steatorrhea OMIM:557000
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Pulmon... ORPHA:29207
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Conot... ORPHA:2306
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Growth delay, Budd-Chiari syndrome, Recurrent lower respiratory... OMIM:226300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis ORPHA:391487
Syndromic Diarrhea
Hepatoblastoma, Villous atrophy, Colitis, Gastritis ORPHA:84064
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... OMIM:619573
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Trichohepatoenteric Syndrome 1
Villous atrophy, Bifid uvula OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Exer... OMIM:220110
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Boutonneuse Fever
Respiratory failure ORPHA:83313
Alg9-Cdg
Villous atrophy, Gastroesophageal reflux, Bifid uvula ORPHA:79328
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... ORPHA:117
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Apnea, Respiratory insufficiency OMIM:608836
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Pneumonia, Chronic pulmonary obstruction, Olig... ORPHA:125
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy OMIM:608104
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Dysplastic aortic valve, Aortic valve calcification, Aorti... ORPHA:3093
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Resp... OMIM:615512
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure OMIM:617186
Fraser Syndrome 2
Ambiguous genitalia, Respiratory failure OMIM:617666
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Pectus excavatum, Small ce... ORPHA:821
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... ORPHA:99827
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:607625
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Recurrent pharyngitis, Splenomegaly, Vasculitis, Abnormal myocardium morp... ORPHA:32960
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease OMIM:619381
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure OMIM:614862
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Male pseudohermaphrodit... ORPHA:2556
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... ORPHA:3260
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Splenomegaly, Pleural effusion, Pleuritis OMIM:249100
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion ORPHA:567546
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum OMIM:616395
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Hypospadias, Apnea, Respiratory insufficiency OMIM:252010
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea ORPHA:79303
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Steinert Myotonic Dystrophy
Endometrial carcinoma, Respiratory failure requiring assisted ventilation, Hypergonadotropic hypo... ORPHA:273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Protein-losing enteropathy, Cleft palate OMIM:235255
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 3
Dyspnea, Respiratory failure, Respiratory insufficiency OMIM:610505
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Arrhythmia, Pleuritis ORPHA:342
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate OMIM:235510
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyema, Pleu... ORPHA:544482
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micropenis, Respiratory failure OMIM:300868
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion ORPHA:340
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Myhre Syndrome
Cryptorchidism, Respiratory failure, Respiratory insufficiency OMIM:139210
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Protein-losing enteropathy ORPHA:1655
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy OMIM:618183
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Cryptorchidism, Restrictive ventilatory defect, Respiratory failure,... ORPHA:96334
Abetalipoproteinemia
Respiratory failure ORPHA:14
Tarp Syndrome
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology ORPHA:2886
Matthew-Wood Syndrome
Duodenal stenosis ORPHA:2470
Listeriosis
Respiratory distress, Respiratory failure, Pneumonia ORPHA:533
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Cryptorchidism, Respiratory failure ORPHA:2636
Otopalatodigital Syndrome, Type Ii
Hypospadias, Cryptorchidism, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia ORPHA:647
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Igg4-Related Kidney Disease
Pericarditis, Abnormal lung morphology, Interstitial pneumonitis, Arteritis, Pleuritis, Chronic s... ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure OMIM:618252
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Isolated Biliary Atresia
Acholic stools, Fat malabsorption ORPHA:30391
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:1708
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... ORPHA:84
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea ORPHA:811
Trisomy 8P
Malrotation of small bowel, Bifid uvula, Cleft palate ORPHA:264450
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Cleft palate OMIM:274000
Liver Disease, Severe Congenital
Chronic gastritis, Protein-losing enteropathy OMIM:619991
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia OMIM:606170
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Cleft palate OMIM:194190

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 Pdgfa

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 Pdgfa.

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

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
Pdgfatm43591(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pdgfatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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