Gene: Cul7 MGI:1913765

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Gene Summary

Name:
cullin 7
Synonyms:
p193,  2510004L20Rik,  p185,  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
increased circulating HDL cholesterol level Cul7tm1a(EUCOMM)Wtsi HET Early adult 3.20×10-05
decreased circulating aspartate transaminase level Cul7tm1a(EUCOMM)Wtsi HET Early adult 1.10×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Rig... ORPHA:70589
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Respiratory distress, Paroxysmal supraventricular tachycar... ORPHA:45452
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Dyspnea, Hypertrophic cardiomyopathy OMIM:613255
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Dyspnea, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, A... ORPHA:50251
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Dyspnea, Left posterior fascicular block, Sudden c... OMIM:113900
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Gaucher Disease Type 2
Cough, Respiratory distress, Cardiac arrest, Abnormal pattern of respiration ORPHA:77260
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Perching Syndrome
Respiratory distress OMIM:617055
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Succinic Acidemia
Respiratory distress OMIM:600335
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Dyspnea, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary insufficiency, Pulmonary arterial hypertension, Abnorma... ORPHA:70588
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Respiratory distress, Cardiomyopathy ORPHA:26792
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Infant Acute Respiratory Distress Syndrome
Hypotension, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachycardia, Cardiac arr... ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Respiratory failure, Shock... ORPHA:178320
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Hypotension, Pleural effusion, Cough, Nonproductive cough, Acute i... ORPHA:36238
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Idiopathic Bronchiectasis
Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emphysema, Acute infectious pneu... ORPHA:60033
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Atrial fibrillation, Congestive heart failure, Dyspnea OMIM:617047
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Dyspnea, Respiratory distress, Tachycardia, Hypoxemia, Syncope ORPHA:464453
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea OMIM:616414
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Respiratory distress, Hypertension OMIM:616733
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Eleva... ORPHA:1329
Nipah Virus Disease
Hypotension, Cough, Respiratory distress ORPHA:99825
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart ... ORPHA:422
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Respiratory insufficiency OMIM:601612
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Cardiogenic sh... ORPHA:563
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Cardiomyopathy, Familial Hypertrophic, 13
Dyspnea, ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fib... OMIM:613243
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Inhalational Anthrax
Hypotension, Dyspnea, Respiratory distress, Internal hemorrhage ORPHA:247257
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Death in childhood, Respiratory distress OMIM:615597
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Malaria
Respiratory distress ORPHA:673
Odontochondrodysplasia
Patent ductus arteriosus, Death in infancy, Respiratory distress ORPHA:166272
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Cardiac conduction abnormality, Atr... ORPHA:1344
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress, Cardiomyopathy ORPHA:86812
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ... OMIM:608758
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypertension, Tachycardia, ... ORPHA:330021
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Dyspnea, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen desaturation on exertion, ... OMIM:610978
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Upper airway obstruction, Stridor ORPHA:142
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Respiratory distress ORPHA:261304
Cardiogenic Shock
Low pulse pressure, Dyspnea, Right ventricular failure, Hypotension, Mitral regurgitation, Abnorm... ORPHA:97292
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Decreased pulmonary function, Atrial flutter, Tricuspid regurgitation, Pulmon... ORPHA:99106
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Patent ductus arteriosus, Respiratory distress OMIM:608799
Stt3B-Cdg
Intrauterine growth retardation, Respiratory distress ORPHA:370924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Respiratory distress, Umbilical hernia ORPHA:226313
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Respiratory distress, First degree atrioventricular block OMIM:160900
Tularemia
Respiratory distress, Pleural effusion, Cough, Pneumonia, Tachycardia ORPHA:3392
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Tetanus
Respiratory distress, Hypertension, Tachycardia, Tachypnea, Bradycardia ORPHA:3299
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Ischemic stroke, Respiratory distress, Supraventricular arrhyth... ORPHA:90068
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Nocturnal hypoventilation OMIM:211530
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Respiratory distress, Episodic tachypnea, Pneumonia, Ventricular tachycardia, Atriove... ORPHA:26793
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Cardiac conduction abnormality, Central hypoventilation, Pulmonic st... ORPHA:70474
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Respiratory distress ORPHA:89844
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Dyspnea, Bundle branch block, Supraventricular arrhythmia, Exertional d... ORPHA:99104
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Palpitations, Dyspnea, Ischemic stroke, Cough, Hemothorax, Epistaxis, Pleur... ORPHA:2038
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Patent ductus arteriosus, Tricuspid regurgi... ORPHA:97214
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Orthopnea, Atrial fibrillation, Abnormal left ventricular f... ORPHA:75249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Cardiorespiratory arrest, Respiratory distress, Hypovolemia, Hypot... ORPHA:31824
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Patent ductus arteriosus, Congestive heart failure, Death in childhood, Rec... OMIM:617303
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Respiratory distress ORPHA:2519
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Antenatal intracerebral hemorrhage, Arrhythmia, Respiratory distress, Respiratory insuffic... OMIM:608836
Laron Syndrome
Hypercholesterolemia ORPHA:633
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Congestive heart failure, Dilated cardiomyopathy... ORPHA:367
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Kniest Dysplasia
Tracheomalacia, Respiratory distress, Umbilical hernia OMIM:156550
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Patent ductus arteriosus, Tracheomalacia, Neonatal respiratory distress, Ca... OMIM:217980
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Congenital Enterovirus Infection
Respiratory distress, Hypotension, Pleural effusion, Myocarditis, Cardiomyopathy ORPHA:292
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakne... OMIM:220110
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy OMIM:301790
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Respiratory insufficiency, Resp... ORPHA:365
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Arterial Tortuosity Syndrome
Dyspnea, Cardiorespiratory arrest, Respiratory distress, Hypertension, Telangiectasia of the skin... ORPHA:3342
Diaphanospondylodysostosis
Intrauterine growth retardation, Tracheomalacia, Respiratory distress, Respiratory insufficiency OMIM:608022
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Atrial Standstill 2
Palpitations, Dyspnea, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave... OMIM:615745
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Patent ductus arteriosus, Tricuspid regurgitation, Congestive heart failure... ORPHA:505248
Bacterial Toxic-Shock Syndrome
Respiratory distress, Hypotension, Pneumonia, Sinusitis, Tachycardia, Myocarditis, Shock, Tachypn... ORPHA:36234
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Congestive heart failure, Respiratory distress ORPHA:3309
Pulmonary Hypertension, Primary, 1
Dyspnea, Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Pulmon... OMIM:178600
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:98914
Ethylene Glycol Poisoning
Episodic respiratory distress, Hypotension, Abnormal pattern of respiration, Atrial fibrillation,... ORPHA:31826
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Moebius Syndrome
Respiratory distress OMIM:157900
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Respiratory distress, Umbilical hernia ORPHA:1555
Hereditary Angioedema Type 1
Hypotension, Inspiratory stridor, Dyspnea, Respiratory distress ORPHA:100050
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Respiratory failure, Intrauterine growth retardation, Pneum... OMIM:266910
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Aortic valve stenosis, Patent ductus arteriosus, Respiratory dis... ORPHA:210122
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Thrombotic Thrombocytopenic Purpura, Hereditary
Myocardial infarction, Transient ischemic attack, Respiratory distress OMIM:274150
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypertrophic cardiomyopathy OMIM:619383
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory failure, Asthma, Recurrent pneum... ORPHA:209905
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Respiratory distress OMIM:613309
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Respiratory distress ORPHA:206436
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Hypotension, Decreased pulmonary function, Nasal flaring... ORPHA:90051
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Apnea, Respiratory distress OMIM:608013
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effu... ORPHA:3260
Alternating Hemiplegia Of Childhood
Apnea, Arrhythmia, Respiratory distress, Cardiac conduction abnormality, Abnormal T-wave, Aspirat... ORPHA:2131
Q Fever
Pericarditis, Respiratory distress, Pleural effusion, Cough, Abnormal left ventricular function, ... ORPHA:781
Scimitar Syndrome
Truncus arteriosus, Respiratory distress, Cough, Patent ductus arteriosus, Left-to-right shunt, C... ORPHA:185
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Aneurysm Of Sinus Of Valsalva
Dyspnea, Aortic regurgitation, Cough, Heart murmur, Congestive heart failure ORPHA:1054
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress OMIM:114290
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Respiratory distress OMIM:300968
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Nocardiosis
Dyspnea, Respiratory distress, Pericarditis, Pleural effusion, Emphysema, Nonproductive cough, Pn... ORPHA:31204
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Cardiac conduction abnormality, Dilated cardiomyop... ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Respiratory distress, Subdural hemorrhage, Pulmonary arterial hypertensio... ORPHA:79282
Rodrigues Blindness
Nasal flaring OMIM:268320
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Gastrointestinal hemorrhage, Cough, Sudden ... ORPHA:537
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Farber Disease
Respiratory distress, Respiratory insufficiency, Atelectasis ORPHA:333
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Respiratory distress, Hypotension, Pleural effusi... ORPHA:509
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Irregular respiration, Respiratory paralysis ORPHA:79139
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Patent ductus arteriosus, Neonatal asphyxia, Upper airwa... ORPHA:141127
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Intraalveo... ORPHA:470
Cryptococcosis
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:1546
Gitelman Syndrome
Palpitations, Respiratory distress, Low-to-normal blood pressure, ST segment depression, Prominen... ORPHA:358
Ramos-Arroyo Syndrome
Patent ductus arteriosus, Respiratory distress ORPHA:1051
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Coccidioidomycosis
Respiratory distress, Pericarditis, Cough, Exudative pleural effusion, Pneumonia, Pleural empyema... ORPHA:228123
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Patent ductus arteriosus, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:17
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Tracheomalacia, Respiratory insufficiency, ... ORPHA:536467
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Patent ductus arteriosus, Respiratory distress ORPHA:177907
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Melena, Cerebral hemorrhage,... OMIM:187300
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Arboleda-Tham Syndrome
Respiratory distress, Patent ductus arteriosus, Neonatal respiratory distress, Pulmonic stenosis,... OMIM:616268
Listeriosis
Arteritis, Pericarditis, Respiratory distress, Pneumonia, Congestive heart failure, Respiratory f... ORPHA:533
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Respiratory distress, Exertional dyspnea, Respiratory failure requirin... ORPHA:99125
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Patent ductus arteriosus, Respiratory distress OMIM:306955
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Adnp Syndrome
Respiratory distress, Umbilical hernia, Aspiration ORPHA:404448
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Dyspnea, Respiratory distress, Tricuspid regurgitation, Respiratory failure, Dilated ... ORPHA:2556
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Dilated cardiomyopathy, Stridor, B... ORPHA:79404
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Ischemic stroke, Lip telangiectasia, Spontaneous, recurrent... OMIM:610655
Meier-Gorlin Syndrome 1
Intrauterine growth retardation, Respiratory distress OMIM:224690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Pneumonia, Interstitial pneumonitis ORPHA:37042
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Hematemesis, S... OMIM:600376
Congenital Disorder Of Deglycosylation
Central sleep apnea, Respiratory distress OMIM:615273
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Respiratory distress OMIM:617088
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Intrauterine... ORPHA:2255
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Isolated Arrhinia
Respiratory distress ORPHA:1134
Tuberous Sclerosis Complex
Hypertension, Respiratory failure, Respiratory distress, Internal hemorrhage ORPHA:805
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Apnea, Asthma, Respiratory distress ORPHA:3206
Schinzel-Giedion Syndrome
Recurrent pneumonia, Respiratory distress, Umbilical hernia, Neural tube defect ORPHA:798
Cleidocranial Dysplasia
Neonatal respiratory distress, Respiratory distress OMIM:119600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Plague
Arrhythmia, Respiratory distress, Hematemesis, Hypotension, Acute infectious pneumonia, Tachycardia ORPHA:707
Rubinstein-Taybi Syndrome 1
Arrhythmia, Respiratory distress, Patent ductus arteriosus, Spina bifida occulta, Obstructive sle... OMIM:180849
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Asthma ORPHA:466943
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia ORPHA:534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Respiratory distress ORPHA:83617
Kasabach-Merritt Syndrome
Hypopnea, Respiratory distress ORPHA:2330
Doors Syndrome
Sirenomelia, Aspiration pneumonia, Respiratory distress, Spina bifida occulta ORPHA:79500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Pneumonia, Chron... ORPHA:95455
Generalized Arterial Calcification Of Infancy
Respiratory distress, Left ventricular systolic dysfunction, Hypertension, Weak pulse, Pulmonary ... ORPHA:51608
Ulbright-Hodes Syndrome
Pneumothorax, Respiratory failure, Respiratory distress, Severe intrauterine growth retardation ORPHA:3404
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory distress, Respiratory acidosis OMIM:614748
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Respiratory distress, Gastrointestinal hemorrhage, Branchial cyst, Patent duc... ORPHA:508488
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Respiratory distress, Cardiomyopathy ORPHA:480880
Three M Syndrome 1
Intrauterine growth retardation, Growth delay, Short stature, Postnatal growth retardation OMIM:273750
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Pmm2-Cdg
Pericarditis, Respiratory distress, Angina pectoris, Intracranial hemorrhage, Aspiration pneumoni... ORPHA:79318
Alström Syndrome
Restrictive ventilatory defect, Chronic pulmonary obstruction, Respiratory distress, Dilated card... 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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