Gene Summary

Name:
cullin 7
Synonyms:
p185,  2510004L20Rik,  p193,  C230011P08Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Cul7tm1a(EUCOMM)Wtsi HET Early adult 1.95×10-05
increased bone mineral content Cul7tm1a(EUCOMM)Wtsi HET Early adult 1.11×10-05
increased circulating HDL cholesterol level Cul7tm1a(EUCOMM)Wtsi HET Early adult 4.39×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Cul7 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 Cul7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cul7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Hypertriglyceridemia, Gout OMIM:610947
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Osteoporosis
Osteoporosis OMIM:166710
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Dyspnea, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular c... OMIM:610476
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Cardiomyopathy, Familial Hypertrophic, 15
Dyspnea, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:613255
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal cardiovascular system physiology, Pleural effusi... ORPHA:50251
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteopenia OMIM:166260
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Intrauterine growth retardation, Respiratory distress, Dyspnea ORPHA:1832
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Gaucher Disease Type 2
Cardiac arrest, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Perching Syndrome
Respiratory distress OMIM:617055
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Intrauterine growth retardation, Pulmonary arterial hypertens... ORPHA:70588
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Succinic Acidemia
Respiratory distress OMIM:600335
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Dyspnea, Syncope, Heart block ORPHA:871
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Premature atrial co... ORPHA:99105
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Pleural effusion, Pulmonic stenosis, Cough, Pulmonary arterial hyperten... ORPHA:2414
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Intrauterine growth retardation, Respiratory distress ORPHA:26792
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound, Crackles,... ORPHA:1302
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Dyspnea, Respi... ORPHA:178320
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Respiratory failure, Atelectasis, B... ORPHA:70587
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respiratory distres... ORPHA:91359
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Cough, Respiratory failure, Pl... ORPHA:36238
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Acquired Methemoglobinemia
Hypoxemia, Arrhythmia, Palpitations, Dyspnea, Respiratory distress, Syncope, Tachycardia ORPHA:464453
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Dyspnea, Atrial fibrillation, Congestive heart failure OMIM:617047
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respiratory failu... OMIM:610921
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Idiopathic/Heritable Pulmonary Arterial Hypertension
Elevated jugular venous pressure, Abnormal cardiovascular system physiology, Dyspnea, Pulmonary a... ORPHA:422
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Abnormal capillary physiology, Upper airway obstruction, Respiratory distress ORPHA:100057
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Elevated jugular venous pressure... ORPHA:1329
Nipah Virus Disease
Hypotension, Cough, Respiratory distress ORPHA:99825
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Respiratory distress, Death in childhood OMIM:615597
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Interstitial pneum... OMIM:610913
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Respiratory distress OMIM:616733
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Patent ductus arteriosus OMIM:601612
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperuricemia, Hyperostosis frontalis interna ORPHA:77296
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Inhalational Anthrax
Dyspnea, Hypotension, Respiratory distress, Internal hemorrhage ORPHA:247257
Temple Syndrome
Joint hypermobility, Flexion contracture, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Malaria
Respiratory distress ORPHA:673
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Patent ductus arteriosus, Congestive heart ... ORPHA:3092
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Pulmonary insufficiency, Tracheomalacia OMIM:245650
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Aortic Arch Interruption
Aortic regurgitation, Aortopulmonary window, Patent ductus arteriosus, Congestive heart failure, ... ORPHA:2299
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Cough, Respiratory distress, Dyspnea ORPHA:86812
Odontochondrodysplasia
Death in infancy, Respiratory distress, Patent ductus arteriosus ORPHA:166272
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure, Truncus arteriosus OMIM:228940
Thyroid Lymphoma
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Congestive heart failure, Tachypnea, Respiratory failu... ORPHA:454836
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, Asthma, Crackles, Tac... OMIM:610978
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distress ORPHA:142
Mercury Poisoning
Interstitial pneumonitis, Hypotension, Respiratory failure, Dyspnea, Hypertension, Respiratory di... ORPHA:330021
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia, Dyspnea OMIM:613873
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Right bundle branch block, Atrial fibrillation... ORPHA:99106
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary arterial hypertension, Neonata... OMIM:265120
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Stt3B-Cdg
Intrauterine growth retardation, Respiratory distress ORPHA:370924
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Respiratory distress ORPHA:261304
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Patent ductus arteriosus OMIM:608799
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Umbilical hernia, Respiratory distress ORPHA:226313
Myotonic Dystrophy 1
Atrial fibrillation, Atrial flutter, First degree atrioventricular block, Respiratory distress OMIM:160900
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Tularemia
Pneumonia, Pleural effusion, Cough, Respiratory distress, Tachycardia ORPHA:3392
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Shortened PR interval, Hypertrophic cardiomyo... ORPHA:308552
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Tachypnea, Hypotension, Myocardial infarction, Cough, V... ORPHA:90068
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Hypercholesterolemia ORPHA:254531
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Tetanus
Tachypnea, Hypertension, Respiratory distress, Bradycardia, Tachycardia ORPHA:3299
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Stridor, Respiratory distress, Respiratory insufficiency OMIM:211530
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Arrhythmia, Patent ductus arteriosus, Congestive heart failure, Dysp... ORPHA:363705
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Respiratory distress ORPHA:89844
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Arrhythmia,... ORPHA:26793
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hy... ORPHA:275766
Congenital Tracheomalacia
Emphysema, Decreased peak expiratory flow, Tracheomalacia, Patent ductus arteriosus, Pneumonia, T... ORPHA:95430
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress ORPHA:79312
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second he... ORPHA:99104
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Dyspnea, Respiratory distress, Tachycardia, Inter... ORPHA:348
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failur... ORPHA:70474
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Hypoxemia, Congestive heart failure, Abnormal atrioventricular conduction,... ORPHA:439
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Eisenmenger Syndrome
Hypoxemia, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle branch bloc... ORPHA:97214
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Pulmonary hemorrhage, Myocardial infarction, Cough, Dyspnea, Pulmonary arte... ORPHA:2038
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Dyspnea, Orthopnea, Syncope, Atr... ORPHA:75249
Laron Syndrome
Osteoarthritis, Hypercholesterolemia ORPHA:633
Triosephosphate Isomerase Deficiency
Congestive heart failure, Death in adolescence, Respiratory failure, Respiratory insufficiency du... OMIM:615512
Chromosome 6Q24-Q25 Deletion Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Tricuspid regurgitation, Respiratory d... OMIM:612863
Choanal Atresia
Tracheomalacia, Abnormal nasal mucus secretion, Upper airway obstruction, Respiratory distress, C... ORPHA:137914
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Congenital Generalized Lipodystrophy
Increased C-peptide level, Bone cyst, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cerebral ischemia, Respiratory distress ORPHA:927
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Myocarditis, Hypotension, C... ORPHA:31824
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Exertional dyspnea, Resp... ORPHA:98915
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Pneumonia, Shock, Respiratory failure, Hypotension, Cough, Capillary ... ORPHA:340
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress, Stridor, Intercostal re... ORPHA:141083
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress, Patent ductus arteriosus ORPHA:2519
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Patent ductus arteriosus, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:617303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Congestive heart failure, Respiratory distress, Resp... ORPHA:367
Chitayat Syndrome
Tracheomalacia, Respiratory distress OMIM:617180
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Mandibuloacral Dysplasia
Hypercholesterolemia, Osteolytic defects of the distal phalanges of the hand, Contractures of the... ORPHA:2457
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Kniest Dysplasia
Umbilical hernia, Tracheomalacia, Respiratory distress OMIM:156550
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Patent ductus arteriosus, Cardiomyopathy, Respiratory distress, Neonatal respirat... OMIM:217980
Sitosterolemia 1
Hyperapobetalipoproteinemia, Arthritis, Elevated circulating sitosterol concentration, Hyperchole... OMIM:210250
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Death in infancy, Episodic hypoventilation OMIM:301790
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Congenital Enterovirus Infection
Hypotension, Pleural effusion, Myocarditis, Cardiomyopathy, Respiratory distress ORPHA:292
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Respiratory distress, Congestive heart failure ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy... OMIM:220110
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure, Hypertrophic cardiomyopathy, My... ORPHA:3342
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Megalocornea-Intellectual Disability Syndrome
Joint hyperflexibility, Osteopenia, Hypercholesterolemia ORPHA:2479
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure, Atelectasis... ORPHA:365
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Nonproductive cough, Crackles, Hypotension, Myocarditis, Atelectasis,... ORPHA:319213
Diaphanospondylodysostosis
Respiratory insufficiency, Intrauterine growth retardation, Tracheomalacia, Respiratory distress OMIM:608022
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dyspnea, Absent P wave,... OMIM:615745
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Gaucher Disease, Perinatal Lethal
Neonatal death, Apnea, Intrauterine growth retardation, Respiratory distress OMIM:608013
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Hypercholesterolemia ORPHA:96184
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Tachypnea, Hypotension, Myocarditis, Capillary leak, Respiratory distress, ... ORPHA:36234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Congenital Myasthenic Syndrome
Central sleep apnea, Episodic respiratory distress, Stridor, Obstructive sleep apnea, Intermitten... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Central sleep apnea, Episodic respiratory distress, Stridor, Obstructive sleep apnea, Intermitten... ORPHA:98914
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Airway obstruction, Patent ductus arteriosus, Congestive heart failure, Hypertrophic cardiomyopat... ORPHA:505248
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arter... OMIM:178600
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Respiratory distress OMIM:619383
Moebius Syndrome
Respiratory distress OMIM:157900
Ethylene Glycol Poisoning
Congestive heart failure, Tachypnea, Hypotension, Abnormal pattern of respiration, Episodic respi... ORPHA:31826
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Restrictive ventilatory defect, Aspiratio... OMIM:164310
Scimitar Syndrome
Patent ductus arteriosus, Congestive heart failure, Left-to-right shunt, Cough, Pulmonary arteria... ORPHA:185
Hereditary Angioedema Type 1
Dyspnea, Hypotension, Respiratory distress, Inspiratory stridor ORPHA:100050
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Hypertension, Respiratory distress ORPHA:1555
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Respiratory failure, Pneumothorax, Respiratory distress, Neonata... OMIM:266910
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceridemia, Hyperchol... ORPHA:79240
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur, Reduced ejection fractio... ORPHA:1677
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Respiratory distress, Aortic valve stenosis, Patent ductus arter... ORPHA:210122
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Biotinidase Deficiency
Apnea, Hyperventilation, Myelopathy, Respiratory distress ORPHA:79241
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Restrictive ventilatory defect, Respiratory distress OMIM:183900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Myocardial infarction, Respiratory distress OMIM:274150
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Abnormal heart rate variability ORPHA:206436
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Sepsis In Premature Infants
Abnormal respiratory system physiology, Hypotension, Dyspnea, Abnormal mucociliary clearance, Bra... ORPHA:90051
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Pulmonary arterial hypertension, Respiratory di... ORPHA:209905
Q Fever
Pneumonia, Abnormal left ventricular function, Myocarditis, Cough, Pleural effusion, Vasculitis, ... ORPHA:781
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceridemia, Hyperchol... ORPHA:264580
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Dilated cardiomyopathy, Congestive heart failure, Asthma, Pulmonary embol... ORPHA:3260
Mgat2-Cdg
Arrhythmia, Respiratory distress, Reflex asystolic syncope, Patent ductus arteriosus ORPHA:79329
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Smith-Magenis Syndrome
Joint stiffness, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Aspiration, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Respirat... ORPHA:2131
Agnathia-Otocephaly Complex
Tracheomalacia, Respiratory distress OMIM:202650
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Auriculocondylar Syndrome
Obstructive sleep apnea, Snoring, Respiratory distress ORPHA:137888
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Osteopenia, Hypercholesterolemia, Hyperprolinemia, ... ORPHA:470
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus OMIM:613309
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Respiratory failure, Pleural effusion, Dyspnea, Produc... ORPHA:31204
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Respiratory distress OMIM:123790
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Patent ductus arteriosus OMIM:300968
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Intrauterine growth retardation, Pulmonary embolism, Pulmonary arterial h... ORPHA:79282
Rodrigues Blindness
Nasal flaring OMIM:268320
Mogs-Cdg
Apnea, Hypoventilation, Respiratory distress ORPHA:79330
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Gastrointestinal hemorrhage, Sudden cardiac death, Cough, Respira... ORPHA:537
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Osteomalacia, Jo... OMIM:309000
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dyspnea, Episodic respiratory distress, Hype... ORPHA:255210
Farber Disease
Atelectasis, Respiratory insufficiency, Respiratory distress ORPHA:333
Listeriosis
Pneumonia, Congestive heart failure, Respiratory failure, Myocarditis, Miscarriage, Arteritis, Re... ORPHA:533
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Japanese Encephalitis
Respiratory paralysis, Irregular respiration, Abnormal pattern of respiration, Respiratory distress ORPHA:79139
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Osteopenia, Hypercholesterolemia, Osteoporosis, Increased susceptibility to fract... ORPHA:79259
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... ORPHA:90674
Congenital Tracheal Stenosis
Patent ductus arteriosus, Dyspnea, Upper airway obstruction, Neonatal asphyxia, Respiratory distr... ORPHA:141127
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Hypoxemia, Nail bed telangiectasia, Telangiectasia of the skin, Gast... OMIM:187300
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress ORPHA:93259
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus ORPHA:1051
Cryptococcosis
Pneumonia, Pleural effusion, Cough, Dyspnea, Respiratory distress ORPHA:1546
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Palpitations, Prolonged QT inte... ORPHA:358
Coccidioidomycosis
Vasospasm, Pneumonia, Cough, Pleural empyema, Vasculitis, Respiratory distress, Pericarditis, Cer... ORPHA:228123
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:17
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress ORPHA:93260
Meier-Gorlin Syndrome 1
Emphysema, Death in infancy, Intrauterine growth retardation, Respiratory distress OMIM:224690
Esophageal Atresia
Restrictive ventilatory defect, Aspiration, Laryngotracheomalacia, Episodic respiratory distress,... ORPHA:1199
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Respiratory... ORPHA:536467
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus ORPHA:177907
Arboleda-Tham Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Pulmonic stenosis, Respiratory distres... OMIM:616268
Campomelic Dysplasia
Tracheomalacia, Spinal dysraphism, Spina bifida, Stridor, Respiratory distress, Neonatal respirat... OMIM:114290
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Patent ductus art... ORPHA:99125
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Adnp Syndrome
Umbilical hernia, Respiratory distress, Aspiration ORPHA:404448
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Pneumonia, Respiratory failure, Dyspnea, Stridor, Pneumothorax, Respirato... ORPHA:79404
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Respiratory failure, Dyspnea, Re... ORPHA:2556
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Gout, Hyperuricemia, Hypertriglyceridemi... ORPHA:90041
Ear-Patella-Short Stature Syndrome
Respiratory failure, Intrauterine growth retardation, Respiratory distress, Dyspnea ORPHA:2554
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Pneumonia, Respiratory distress ORPHA:37042
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Congenital Disorder Of Deglycosylation 1
Central sleep apnea, Respiratory distress OMIM:615273
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Patent ductus arteriosus OMIM:617088
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Pulmonic stenosis, Respiratory distres... ORPHA:2255
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Patent ductus arteriosus, Pulmonic stenosis, Mitral stenosis, Respiratory distress OMIM:306955
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Recurrent fractures, Joint stiffness, Hypercholesterolemia, Hypoammone... ORPHA:534
Tuberous Sclerosis Complex
Respiratory failure, Hypertension, Respiratory distress, Internal hemorrhage ORPHA:805
Isolated Arrhinia
Respiratory distress ORPHA:1134
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Immunodeficiency 47
Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Stüve-Wiedemann Syndrome
Asthma, Apnea, Intrauterine growth retardation, Respiratory distress ORPHA:3206
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Schinzel-Giedion Syndrome
Neural tube defect, Recurrent pneumonia, Umbilical hernia, Respiratory distress ORPHA:798
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Cleidocranial Dysplasia
Neonatal respiratory distress, Respiratory distress OMIM:119600
Plague
Arrhythmia, Hypotension, Hematemesis, Respiratory distress, Tachycardia, Acute infectious pneumonia ORPHA:707
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Rubinstein-Taybi Syndrome 1
Arrhythmia, Patent ductus arteriosus, Obstructive sleep apnea, Respiratory distress, Spina bifida... OMIM:180849
Doors Syndrome
Sirenomelia, Respiratory distress, Spina bifida occulta, Aspiration pneumonia, Arrhinencephaly ORPHA:79500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Respiratory distress ORPHA:83617
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Cough, Rhinitis, Chronic lung dise... ORPHA:95455
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Retinal hemorrhage, Pulmonary arterial hypertension, Trans... ORPHA:51608
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Neonatal respiratory distress, Respiratory distress, Respiratory acidosis OMIM:614748
Ulbright-Hodes Syndrome
Severe intrauterine growth retardation, Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Patent ductus arteriosus, Intrauterine growth retard... ORPHA:508488
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Three M Syndrome 1
Postnatal growth retardation, Growth delay, Short stature, Intrauterine growth retardation OMIM:273750
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Intrauterine growth retardation, Respiratory distress ORPHA:99646
Pmm2-Cdg
Hypertrophic cardiomyopathy, Respiratory distress, Pericarditis, Angina pectoris, Aspiration pneu... ORPHA:79318
Alström Syndrome
Abnormal coronary artery physiology, Dilated cardiomyopathy, Recurrent pneumonia, Portal hyperten... ORPHA:64
3M Syndrome
Short stature, Intrauterine growth retardation ORPHA:2616

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 Cul7

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 Cul7.

No publications found that use IMPC mice or data for Cul7.

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MGI Allele Allele Type Produced
Cul7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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