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Gene: Mdfic MGI:104611

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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:
MyoD family inhibitor domain containing
Synonyms:
Kdt1,  clone 1.5

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 Mdfic 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 Mdfic by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chronic pu... ORPHA:2414
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... OMIM:265300
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Sarcoidosis, Susceptibility To, 2
Dyspnea, Mediastinal lymphadenopathy, Pneumothorax, Splenomegaly, Bronchiectasis, Abnormal pulmon... OMIM:612387
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... ORPHA:538
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Follicular Lymphoma
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion ORPHA:545
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Congenital Heart Block
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... ORPHA:60041
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... ORPHA:1041
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnorm... OMIM:620233
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Mediast... ORPHA:3392
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion OMIM:602248
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Cough, Abno... ORPHA:77260
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Edema OMIM:603278
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Polyhydramnios OMIM:619036
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... ORPHA:60032
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenop... OMIM:234810
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Hennekam Syndrome
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... ORPHA:2136
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,... ORPHA:188
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Dyspnea, Angioedema, Splenomegaly, Lymphadenopathy, Small vessel vasculitis... ORPHA:36412
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion ORPHA:85414
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... ORPHA:1163
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia OMIM:153400
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh... OMIM:614702
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Stillbirth, Neonatal death, Pulmonary arterial hy... OMIM:619751
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P... OMIM:300580
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... OMIM:261740
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immunodeficiency 91 And Hyperinflammation
Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Lymph... OMIM:619644
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Splenome... ORPHA:464329
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... OMIM:617397
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... OMIM:612877
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... ORPHA:2038
Scedosporiosis
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... OMIM:613563
Succinic Acidemia
Respiratory distress OMIM:600335
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Sarcoidosis
Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo... ORPHA:797
Hemochromatosis, Type 1
Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus... OMIM:235200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Lethargy ORPHA:26792
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... ORPHA:70588
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... ORPHA:178320
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... ORPHA:284227
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P... ORPHA:567546
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops f... ORPHA:292
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Gorham-Stout Disease
Lymphangioma, Pleural effusion, Edema, Rhinorrhea ORPHA:73
Perching Syndrome
Respiratory distress OMIM:617055
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Hypertrophic cardiomyopathy, Respiratory insufficiency due to mus... OMIM:613561
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Splenomegaly, Recurrent pneumonia, Recurrent tonsillitis, Hepatosplenomegaly, Lymp... OMIM:618935
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi... ORPHA:67
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia ORPHA:240085
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... OMIM:115197
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... ORPHA:3282
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Pontocerebellar Hypoplasia, Type 13
Pleural effusion, Asthma, Recurrent respiratory infections, Edema OMIM:618606
Fryns Syndrome
Polyhydramnios, Stillbirth, Chylothorax, Polysplenia, Pulmonary hypoplasia OMIM:229850
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor ORPHA:97285
Dystonia 31
Abnormal posturing OMIM:619565
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Noonan Syndrome 8
Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyo... OMIM:615355
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Pleural effusion, Chylothorax, Edema, Lymphedema ORPHA:2526
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Splenomegaly... ORPHA:33226
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th... ORPHA:142
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Dehydration, Cardiomyopathy, Lethargy ORPHA:79312
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Lymphadenopathy, Pleural effusion, Ascites ORPHA:93552
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleural effus... OMIM:616897
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, Splenomegaly, V... ORPHA:781
Lymphoproliferative Syndrome 1
Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy OMIM:613011
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P... ORPHA:90362
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Poems Syndrome
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, R... ORPHA:2905
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Hepatosplenomegaly, Restricti... ORPHA:210136
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Pedal edema, Heart m... ORPHA:422
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... OMIM:614299
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Pericardial effusion, Dyspnea, Mediastinal lymphadenopathy, Splenome... OMIM:181000
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate... ORPHA:563
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Transient ischemic attack, Supraventricular ar... ORPHA:3260
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia, Oligohydramnios OMIM:616733
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea, Lethargy OMIM:614857
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Malaria
Respiratory distress ORPHA:673
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... ORPHA:340
Carnitine Deficiency, Systemic Primary
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... OMIM:212140
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Ring Chromosome 22 Syndrome
Pleural effusion, Edema, Lymphedema ORPHA:1446
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... OMIM:235510
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Mediastinal lymphade... ORPHA:1546
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... ORPHA:679
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... ORPHA:31204
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough ORPHA:86812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive ... ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... OMIM:115195
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... ORPHA:75249
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... OMIM:113900
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Chylothorax, Pulmonic stenosis, Lymphedema OMIM:163950
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy, Inspiratory stridor,... OMIM:604377
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Pericard... ORPHA:26793
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Cough, Pleural ef... OMIM:306400
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... OMIM:617180
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy ORPHA:289916
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... OMIM:618183
Hellp Syndrome
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... ORPHA:244242
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Periorbital edema, Atelectasis, ... ORPHA:73263
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Erdheim-Chester Disease
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swelling, Pu... ORPHA:35687
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... OMIM:612098
Isolated Atp Synthase Deficiency
Respiratory distress, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy ORPHA:254913
Fusariosis
Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Abnormality o... ORPHA:228119
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... OMIM:620369
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... OMIM:160900
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy OMIM:251000
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Tachypnea ORPHA:79242
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Cerebral ischemia ORPHA:927
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Huntington Disease-Like 1
Bradykinesia, Abnormal posturing ORPHA:157941
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Aspiration pneumonia, Cough ORPHA:216866
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymp... ORPHA:509
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... ORPHA:90363
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Splenomegaly, Telangiectasia OMIM:608799
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenop... ORPHA:228123
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary art... OMIM:265380
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Titubation, Bradykinesia, Abnormal posturing, Recur... ORPHA:225147
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... ORPHA:97214
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... OMIM:613873
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
Noonan Syndrome 10
Mitral stenosis, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:616564
Cocaine Intoxication
Respiratory distress, Prolonged QT interval, Tachycardia, Pulmonary edema, Prolonged QRS complex,... ORPHA:90068
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Lethargy OMIM:620306
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Palpebral edema, Myocarditis, Cervical lymphadenopathy, Vasculitis, ... ORPHA:50918
Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatospl... ORPHA:167
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Polyhydramnios OMIM:300219
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Polyhydramnios, ... ORPHA:363705
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Familial Mediterranean Fever
Splenomegaly, Pleural effusion, Pleuritis, Pericarditis OMIM:249100
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Dy... ORPHA:275766
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... ORPHA:185
Immunodeficiency 87 And Autoimmunity
Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third degree atrioventr... OMIM:619573
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplen... OMIM:608013
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Anasarca, Edema OMIM:254900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Brucellosis
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Hypersplenism, Myoc... ORPHA:1304
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyem... ORPHA:544482
Stt3B-Cdg
Respiratory distress ORPHA:370924
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Atel... ORPHA:319213
Multiple Myeloma
Splenomegaly, Pleural effusion, Lymphadenopathy ORPHA:29073
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Hepatosplen... ORPHA:79330
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios OMIM:202650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... OMIM:616482
Colchicine Poisoning
Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr... OMIM:607143
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hepatosplenomegal... ORPHA:171
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... OMIM:615512
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Pleural effusion ORPHA:453499
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... ORPHA:3309
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio... ORPHA:36234
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Pulmonary fibrosis, Splenomegaly OMIM:612852
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy, Dehydration OMIM:251110
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Pulmonary hypopla... OMIM:608022
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... OMIM:617303
Chronic Graft Versus Host Disease
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple... ORPHA:99921
Pancreatitis, Hereditary
Pleural effusion OMIM:167800
Sepsis In Premature Infants
Tachycardia, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Splenomegaly, Abnorma... ORPHA:90051
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype... OMIM:220110
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... ORPHA:31826
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Polyhydramnios, Congestive heart failure, Lethargy, Ascites OMIM:617156
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios ORPHA:329178
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... ORPHA:365
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... ORPHA:141127
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Moebius Syndrome
Respiratory distress OMIM:157900
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehydration OMIM:616271
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Cough ORPHA:1054
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Sandifer Syndrome
Hematemesis, Abnormal posturing ORPHA:71272
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:98914
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Lethargy, Dehydration OMIM:251100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Biotinidase Deficiency
Respiratory distress, Lethargy, Apnea, Hyperventilation ORPHA:79241
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... ORPHA:537
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation OMIM:612863
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Asplenia ORPHA:210122
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Abnormal heart rate variability ORPHA:206436
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Cardio... ORPHA:2131
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... ORPHA:79282
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Unilateral Polymicrogyria
Abnormal posturing, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Vici Syndrome
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... OMIM:242840
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ce... ORPHA:79139
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... ORPHA:1199
Mgat2-Cdg
Respiratory distress, Hydrops fetalis, Reflex asystolic syncope, Arrhythmia, Recurrent upper and ... ORPHA:79329
Rodrigues Blindness
Nasal flaring OMIM:268320
Achondroplasia
Respiratory distress, Pulmonary hypoplasia, Upper airway obstruction, Polyhydramnios OMIM:100800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Splenic cyst OMIM:618188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Pneumonia, Splenomegaly, Lymphadenopathy,... ORPHA:37042
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Congestive heart failure, Myocarditis, Respiratory... ORPHA:533
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Abnormal lymphatic vessel morphology ORPHA:2330
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Dehydratio... ORPHA:79404
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated cardiomyop... ORPHA:255210
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:99125
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-nor... ORPHA:358
Plague
Respiratory distress, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Enlarged mese... ORPHA:707
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Apnea ORPHA:17
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Oligohydramnios ORPHA:177907
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Asplenia, Total anomalous pulmonar... OMIM:306955
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia ORPHA:1051
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... ORPHA:805
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Recurrent upper respi... OMIM:114290
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Ascites OMIM:256810
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Respiratory failu... ORPHA:2556
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Pleural effusion, Aortic valve stenosis, Congestive heart failure OMIM:182250
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Upper eyel... OMIM:616268
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema OMIM:224690
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Isolated Arrhinia
Respiratory distress ORPHA:1134
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, Hyd... ORPHA:51608
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Rubinstein-Taybi Syndrome 1
Respiratory distress, Accessory spleen, Polyhydramnios, Respiratory tract infection, Recurrent up... OMIM:180849
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Oligohydramnios ORPHA:3206
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Splenomegaly, Polyhydramnios OMIM:617088
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
8Q24.3 Microdeletion Syndrome
Respiratory distress, Abnormal lung lobation, Gastrointestinal hemorrhage, Oligohydramnios ORPHA:508488
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... ORPHA:95455
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis, Oligohydramnios ORPHA:2255
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios ORPHA:3404
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Doors Syndrome
Respiratory distress, Polyhydramnios, Aspiration pneumonia ORPHA:79500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections ORPHA:480880
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Lymphangioma, Recurrent pneumonia ORPHA:99646
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracrani... ORPHA:79318
Alström Syndrome
Respiratory distress, Portal hypertension, Congestive heart failure, Splenomegaly, Recurrent uppe... ORPHA:64

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 Mdfic

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 Mdfic.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mdficem1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Mdfictm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdficem1(IMPC)Wtsi Deletion Mice

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