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Gene: Cul7 MGI:1913765

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Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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
decreased bone mineral density Cul7tm1a(EUCOMM)Wtsi HET Early adult 1.95×10-05

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Three M Syndrome 1
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Growth delay OMIM:273750
3M Syndrome
Intrauterine growth retardation, Short stature ORPHA:2616

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Death in infancy, Pneumonia OMIM:254120
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Respiratory distress, Congestive heart failure, Dilat... OMIM:613642
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Death in adolescence, Intrauterine growth retardation, Neonatal ... OMIM:619751
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteoporosis
Osteoporosis OMIM:166710
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Dyspnea, Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricul... OMIM:610476
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Right ventricular failure, Cough, Chronic lung d... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia ORPHA:141152
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cardiomyopathy, Dilated, 1Bb
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... OMIM:612877
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovasc... ORPHA:50251
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Respiratory insufficiency, Syncope, Upper airway obstruction,... ORPHA:60032
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Stridor, Wheezing ORPHA:137935
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Dyspnea, Mitral regurgitation, Left ventricular outflow tract obst... OMIM:620236
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... ORPHA:264675
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis, Osteopenia OMIM:166260
Gaucher Disease Type 2
Cardiac arrest, Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio... OMIM:613838
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Familial Progressive Cardiac Conduction Defect
Dyspnea, Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Meconium Aspiration Syndrome
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia... ORPHA:70588
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy OMIM:300580
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea OMIM:267450
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Pulmonic stenosis, Cough, Tricusp... ORPHA:2414
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Intrauterine growth retardation ORPHA:26792
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Atrial Septal Defect, Sinus Venosus Type
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Dyspnea, Reduced left ven... OMIM:613243
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... ORPHA:1303
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Perching Syndrome
Respiratory distress OMIM:617055
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory failure OMIM:614399
Cardiomyopathy, Dilated, 2H
Neonatal death, Cardiorespiratory arrest, Reduced left ventricular ejection fraction, Tachypnea OMIM:620203
Acute Lung Injury
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Shock, Respirat... ORPHA:178320
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Pleural effusion, Hypotension, Cough, Hypoxemia, Nonproductive cough, Respira... ORPHA:36238
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Respiratory failure, Tachypnea OMIM:263000
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Hypoxemia, Pneumonia, Respiratory failure, Tachypnea, Bradycardia, T... ORPHA:70587
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Acquired Methemoglobinemia
Dyspnea, Syncope, Palpitations, Hypoxemia, Arrhythmia, Respiratory distress, Tachycardia ORPHA:464453
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... OMIM:610921
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Dyspnea, Reduced left ventricular ejection fraction, Angina pectoris, ... OMIM:115195
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Familial Dilated Cardiomyopathy
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... ORPHA:217607
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... ORPHA:422
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Respiratory failure, Paroxysmal dyspnea,... ORPHA:563
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Dyspnea, Syncope, Sudden cardiac death, Prolonged PR interval, Le... OMIM:113900
Avian Influenza
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... ORPHA:454836
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Dyspnea, Reduced left ventricular ejection fraction, Syncope, First degree atriov... OMIM:115197
Complete Atrioventricular Septal Defect
Intercostal retractions, Abnormal EKG, Third heart sound, Systolic heart murmur, Wheezing, Tachyp... ORPHA:1329
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... OMIM:610913
Inhalational Anthrax
Respiratory distress, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Nipah Virus Disease
Cough, Respiratory distress, Hypotension ORPHA:99825
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Intrauterine growth retardation OMIM:615597
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Tachypnea, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure... OMIM:614299
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy OMIM:613561
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Dyspnea, Syncope, Palpit... OMIM:612098
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy OMIM:615042
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Intrauterine growth retardation OMIM:616733
Fixed Subaortic Stenosis
Dyspnea, Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibril... ORPHA:3092
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Patent ductus arteriosus, Neonatal death OMIM:601612
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia ORPHA:77296
Malaria
Respiratory distress ORPHA:673
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Auriculocondylar Syndrome 2
Respiratory distress, Snoring, Apnea OMIM:614669
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Aortic Arch Interruption
Right bundle branch block, Systolic heart murmur, Blood pressure substantially higher in arms tha... ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Palpitations, Supraventricular t... OMIM:608758
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Cardiomyopathy, Dyspnea, Respiratory distress ORPHA:86812
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Tracheomalacia, Respiratory insufficiency, Neonatal death OMIM:245650
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Abnormal capillary physiology ORPHA:100057
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor ORPHA:97285
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Atrial Septal Defect, Ostium Secundum Type
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Bundle branch bl... ORPHA:99103
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Death in infancy, Irregular respiration, Respiratory distress, Hypertrophic cardi... OMIM:604377
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Dyspnea, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atr... OMIM:613873
Anaplastic Thyroid Carcinoma
Dyspnea, Cough, Upper airway obstruction, Respiratory distress, Stridor ORPHA:142
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Mercury Poisoning
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Interstitial pneum... ORPHA:330021
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Oxygen desaturation on exertion, Restrictive ventilatory defect, C... OMIM:610978
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... OMIM:265120
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary arterial hypertension... ORPHA:99106
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:261304
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Patent ductus arteriosus OMIM:608799
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress OMIM:620011
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Cardiomyopathy, Respiratory distress, Congestive heart failure, Hypertrophi... OMIM:212140
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Dyspnea, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventi... OMIM:211530
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Hypercholesterolemia ORPHA:254531
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Dyspnea, Right vent... OMIM:609040
Tularemia
Cough, Respiratory distress, Pneumonia, Pleural effusion, Tachycardia ORPHA:3392
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Left ventricular outflow tract obstruction, R... ORPHA:308552
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Umbilical hernia, Respiratory distress ORPHA:226313
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... ORPHA:97292
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Tetanus
Hypertension, Respiratory distress, Tachypnea, Bradycardia, Tachycardia ORPHA:3299
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Cocaine Intoxication
Subarachnoid hemorrhage, Prolonged QRS complex, Tachypnea, Diffuse alveolar hemorrhage, Hypotensi... ORPHA:90068
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Pleural effusion, Hypotension, Cardiomyopathy, Apnea... OMIM:261740
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Tachypnea, Tachycardia, Arrhythmia, Respiratory distress, Episodic tachy... ORPHA:26793
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Congenital Tracheomalacia
Intercostal retractions, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea,... ORPHA:95430
Temple Syndrome
Hypertriglyceridemia, Flexion contracture, Joint hypermobility, Hypercholesterolemia OMIM:616222
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Arrhythmia, Respiratory distress,... ORPHA:363705
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Intermittent hyperventilation, Respiratory distress, Episodic tachypnea, Tachycardia, Ap... ORPHA:348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Central apnea, Congestive ... OMIM:616482
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Leigh Syndrome With Cardiomyopathy
Mitral regurgitation, Pulmonic stenosis, Apnea, Central hypoventilation, Respiratory distress, Ca... ORPHA:70474
Eisenmenger Syndrome
Hypoxemia, Tricuspid regurgitation, Supraventricular arrhythmia, Angina pectoris, Atrial fibrilla... ORPHA:97214
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Syncope, Palpitations, Arrhythmi... ORPHA:99104
Laron Syndrome
Osteoarthritis, Hypercholesterolemia ORPHA:633
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Respiratory insufficiency due to muscle weakness, Respiratory distress, Respi... OMIM:220110
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Respiratory distress, Portal hypertension, Congestive heart failure, D... ORPHA:367
Chromosome 6Q24-Q25 Deletion Syndrome
Intrauterine growth retardation, Tricuspid regurgitation, Respiratory distress, Persistent fetal ... OMIM:612863
Choanal Atresia
Tracheomalacia, Chronic sinusitis, Respiratory distress, Upper airway obstruction, Abnormal nasal... ORPHA:137914
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Bone cyst, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Triosephosphate Isomerase Deficiency
Death in adolescence, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness... OMIM:615512
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... OMIM:615343
Hemorrhagic Fever-Renal Syndrome
Dyspnea, Pleural effusion, Hypotension, Cough, Palpitations, Intracranial hemorrhage, Hypertensio... ORPHA:340
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Nasolacrimal Duct Cyst
Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress... ORPHA:141083
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory insufficiency, Hypove... ORPHA:98915
Colchicine Poisoning
Myocarditis, Hypotension, Arrhythmia, Cardiorespiratory arrest, Respiratory distress, Congestive ... ORPHA:31824
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:2457
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalan... OMIM:248370
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Recurrent pneumonia, Congestive heart failure, Patent d... OMIM:617303
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg... ORPHA:66529
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia ORPHA:314655
Tetrasomy 5P
Respiratory distress, Heart murmur, Pulmonary arterial hypertension, Congestive heart failure ORPHA:3309
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Decreased HDL cholesterol co... ORPHA:412
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Dyspnea, Telangiectasia of the skin, Hypertension, Cardiorespiratory... ORPHA:3342
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy, Respiratory distress, Pleural effusion ORPHA:292
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypertrophic cardiomyopathy OMIM:619383
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Cardiomyopathy, Respiratory distress, Patent ductu... OMIM:217980
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Kniest Dysplasia
Respiratory distress, Umbilical hernia, Tracheomalacia OMIM:156550
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Megalocornea-Intellectual Disability Syndrome
Joint hyperflexibility, Hypercholesterolemia, Osteopenia ORPHA:2479
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory in... ORPHA:365
Gaucher Disease, Perinatal Lethal
Respiratory distress, Intrauterine growth retardation, Neonatal death, Apnea OMIM:608013
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Hypercholesterolemia ORPHA:96184
Scimitar Syndrome
Pulmonary arterial hypertension, Heart block, Cough, Respiratory distress, Congestive heart failu... ORPHA:185
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypotension, Capillary leak, Respiratory distress, Sinusitis, Shock, Pneumonia, Tach... ORPHA:36234
Moebius Syndrome
Respiratory distress OMIM:157900
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Osteopenia OMIM:249310
Diaphanospondylodysostosis
Respiratory insufficiency, Respiratory distress, Tracheomalacia, Intrauterine growth retardation OMIM:608022
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Rhinitis, Respiratory distress, Subconjunctival hemorrhage, Shock, Nonp... ORPHA:319213
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, S... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, S... ORPHA:98914
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Congestive heart failure, Intrauterine growth retardation OMIM:616271
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation, Airway obstructio... ORPHA:505248
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia, Hypertension ORPHA:1555
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Arthritis, Xanthelasma,... OMIM:210250
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Patent ductus arteriosus OMIM:607143
Oculopharyngodistal Myopathy 1
Aspiration, Hypercapnia, Paroxysmal atrial fibrillation, Restrictive ventilatory defect, Respirat... OMIM:164310
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Ethylene Glycol Poisoning
Tachypnea, Hypotension, Tachycardia, Hypertension, Congestive heart failure, Shock, Abnormal patt... ORPHA:31826
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Neonatal respiratory distress, Hypopnea, Death in infancy, Apnea, Respiratory... OMIM:618426
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hereditary Angioedema Type 1
Respiratory distress, Inspiratory stridor, Dyspnea, Hypotension ORPHA:100050
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... ORPHA:79240
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Joint stiffness ORPHA:819
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability, Respiratory failure ORPHA:206436
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Respiratory failure, Pleural effusion, Chylothorax ORPHA:3015
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Myelopathy ORPHA:79241
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Congestive heart failure, Intrauterine growth retardation, Death in infancy OMIM:617156
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Patent ductus arter... ORPHA:210122
Sepsis In Premature Infants
Dyspnea, Abnormal respiratory system physiology, Hypotension, Nasal flaring, Bradycardia, Tachyca... ORPHA:90051
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Cervical myelopathy, Respiratory distress OMIM:183900
Thrombotic Thrombocytopenic Purpura, Hereditary
Myocardial infarction, Transient ischemic attack, Respiratory distress OMIM:274150
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... ORPHA:264580
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... ORPHA:209905
Q Fever
Myocarditis, Vasculitis, Cough, Respiratory distress, Abnormal left ventricular function, Pneumon... ORPHA:781
Mgat2-Cdg
Reflex asystolic syncope, Arrhythmia, Respiratory distress, Patent ductus arteriosus ORPHA:79329
Alternating Hemiplegia Of Childhood
Aspiration, Abnormal T-wave, Arrhythmia, Cardiomyopathy, Apnea, Respiratory distress, Cardiac con... ORPHA:2131
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Dyspnea, Cough, Intracranial hemorrhage, Pulmonary embolism, Respiratory dist... ORPHA:3260
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Umbilical hernia, Patent ductus arteriosus OMIM:618188
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Pathologic fracture, ... ORPHA:470
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood, Recurrent pneumonia, Chronic lung disease OMIM:613848
Achondroplasia
Upper airway obstruction, Death in infancy, Respiratory distress OMIM:100800
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Rodrigues Blindness
Nasal flaring OMIM:268320
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Cough, Sudden cardiac death, Respiratory distress, Gastrointestin... ORPHA:537
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Hypoxemia, Nasal mucosa telangiectasia, Transient ischemic attack, Palate tel... OMIM:187300
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus OMIM:613309
Nocardiosis
Dyspnea, Productive cough, Nonproductive cough, Respiratory distress, Respiratory failure, Pneumo... ORPHA:31204
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Patent ductus arteriosus OMIM:300968
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Intrauterine growth ret... ORPHA:79282
Farber Disease
Respiratory insufficiency, Respiratory distress ORPHA:333
Listeriosis
Myocarditis, Miscarriage, Respiratory distress, Congestive heart failure, Arteritis, Respiratory ... ORPHA:533
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respiration ORPHA:79139
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hyperventilation, Apnea, Cardiac conduction abnormality, Dilated cardiomyopathy, Hypertr... ORPHA:255210
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Gout, Osteoporosis, Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma,... ORPHA:79259
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Leptospirosis
Pleural effusion, Hypotension, Cough, Arrhythmia, First degree atrioventricular block, Respirator... ORPHA:509
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:17
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... ORPHA:90674
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Congenital Tracheal Stenosis
Dyspnea, Upper airway obstruction, Respiratory distress, Neonatal asphyxia, Patent ductus arterio... ORPHA:141127
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus ORPHA:177907
Coccidioidomycosis
Vasculitis, Cough, Vasospasm, Respiratory distress, Pleural empyema, Cerebral ischemia, Pneumonia... ORPHA:228123
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus ORPHA:1051
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Promine... ORPHA:358
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Tracheomalacia, Restrictive ventilatory defect, Respiratory insufficienc... ORPHA:536467
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Cryptococcosis
Dyspnea, Cough, Respiratory distress, Pneumonia, Pleural effusion ORPHA:1546
Esophageal Atresia
Aspiration, Chronic pulmonary obstruction, Laryngotracheomalacia, Restrictive ventilatory defect,... ORPHA:1199
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Lowe Oculocerebrorenal Syndrome
Rickets, Camptodactyly of finger, Pathologic fracture, Bicarbonaturia, Elevated circulating creat... OMIM:309000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Intrauterine growth retardation, Emphysema OMIM:224690
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Adnp Syndrome
Respiratory distress, Umbilical hernia, Aspiration ORPHA:404448
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Stridor, Respiratory distress, Respiratory failure, Pneumothorax, Dilated cardiomyopathy... ORPHA:79404
Campomelic Dysplasia
Neonatal respiratory distress, Spinal dysraphism, Tracheomalacia, Spina bifida, Apnea, Respirator... OMIM:114290
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:2554
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Mitral regurgitation, Arrhythmia, Tricuspid regurgitation, Respiratory distress, Respira... ORPHA:2556
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Mitral regurgitation, Respiratory failure requiring assisted ven... ORPHA:99125
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Gout, Hyperproteinemia, Hypertriglyceridemia, H... ORPHA:90041
Arboleda-Tham Syndrome
Neonatal respiratory distress, Pulmonic stenosis, Intrauterine growth retardation, Respiratory di... OMIM:616268
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Myelomeningocele, Respiratory distress, Patent ductus arteriosus, Mitral stenosis OMIM:306955
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Joint stiffness, Hypokalemia, Osteoma... ORPHA:534
Immunodeficiency 47
Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pulmonic stenosis, Umbilical hernia, Intrauterine growth retardation, Respiratory distress, Paten... ORPHA:2255
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
8Q24.3 Microdeletion Syndrome
Intrauterine growth retardation, Respiratory distress, Gastrointestinal hemorrhage, Branchial cys... ORPHA:508488
Tuberous Sclerosis Complex
Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage ORPHA:805
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Central sleep apnea OMIM:615273
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Isolated Arrhinia
Respiratory distress ORPHA:1134
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia ORPHA:275761
Rubinstein-Taybi Syndrome 1
Spina bifida, Respiratory distress, Obstructive sleep apnea, Spina bifida occulta, Patent ductus ... OMIM:180849
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Intrauterine growth retardation, Apnea ORPHA:3206
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Schinzel-Giedion Syndrome
Respiratory distress, Umbilical hernia, Neural tube defect, Recurrent pneumonia ORPHA:798
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Plague
Hypotension, Arrhythmia, Respiratory distress, Hematemesis, Acute infectious pneumonia, Tachycardia ORPHA:707
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Patent ductus arteriosus OMIM:617088
Doors Syndrome
Sirenomelia, Aspiration pneumonia, Respiratory distress, Spina bifida occulta, Arrhinencephaly ORPHA:79500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:83617
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Cough, Chronic lung disease, Respiratory distress, Pneumonia, Respiratory failure requiring assis... ORPHA:95455
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Hypertension, Weak pulse,... 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
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Ulbright-Hodes Syndrome
Respiratory distress, Severe intrauterine growth retardation, Respiratory failure, Pneumothorax ORPHA:3404
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Three M Syndrome 1
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Growth delay OMIM:273750
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Osteopenia, Hyperbilirubinemia, Elevated circulating creatinine co... OMIM:619534
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Intrauterine growth retardation ORPHA:99646
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Pmm2-Cdg
Aspiration pneumonia, Intracranial hemorrhage, Respiratory distress, Angina pectoris, Hypertrophi... ORPHA:79318
Alström Syndrome
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Restrictive ventilatory defect, H... ORPHA:64
3M Syndrome
Intrauterine growth retardation, Short stature 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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