Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
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
preweaning lethality, complete penetrance Cul7tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral density Cul7tm1a(EUCOMM)Wtsi HET Early adult 1.95×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cul7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cul7 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia OMIM:254120
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Intrauterine growth retardation, Neonatal death, ... OMIM:619751
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteoporosis
Osteoporosis OMIM:166710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Palpitations, Syncope, Dyspnea, Sudden ... OMIM:610476
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... OMIM:620236
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, O... OMIM:613838
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block ORPHA:871
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Succinic Acidemia
Respiratory distress OMIM:600335
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Dyspnea, Hypertension, Systo... ORPHA:3193
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Dyspnea ORPHA:1832
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Gaucher Disease Type 2
Respiratory distress, Cardiac arrest, Abnormal pattern of respiration ORPHA:77260
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Perching Syndrome
Respiratory distress OMIM:617055
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy OMIM:300580
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Pleural Mesothelioma
Respiratory distress, Abnormal cardiovascular system physiology, Dyspnea ORPHA:50251
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Immunodeficiency 95
Respiratory distress OMIM:619773
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pulmonary arterial hyper... ORPHA:2414
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Dyspnea... OMIM:115195
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Tachypnea, Neonatal death OMIM:620203
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Right ventricular failure ORPHA:70589
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:115197
Laryngomalacia
Respiratory distress OMIM:150280
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia ORPHA:464453
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Inhalational Anthrax
Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage ORPHA:247257
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Death in childhood OMIM:615597
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Intrauterine growth retardation, Hypertension OMIM:616733
Malaria
Respiratory distress ORPHA:673
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... ORPHA:2299
Acute Lung Injury
Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea ORPHA:178320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Odontochondrodysplasia
Respiratory distress, Patent ductus arteriosus, Death in infancy ORPHA:166272
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:613561
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy OMIM:615042
Recurrent Respiratory Papillomatosis
Respiratory distress, Syncope, Tachypnea, Dyspnea ORPHA:60032
Meconium Aspiration Syndrome
Respiratory distress, Intrauterine growth retardation, Pulmonary arterial hypertension, Abnormal ... ORPHA:70588
Nipah Virus Disease
Respiratory distress, Hypotension ORPHA:99825
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy ORPHA:86812
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology ORPHA:100057
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... OMIM:614299
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... ORPHA:1329
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Tachypnea, Bradycardia, Tachycardia, Nasal flaring ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Dyspnea, Atr... OMIM:613873
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachycardia, Tachypnea ORPHA:264675
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Joint hypermobility ORPHA:254531
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Irregular respiration, Cardi... OMIM:604377
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitr... OMIM:212140
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:261304
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Systolic heart murmur, Right ventricular failure, Tr... ORPHA:99103
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Patent ductus arteriosus, Telangiectasia OMIM:608799
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage ORPHA:238459
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Left ventricular diastolic dysfunction OMIM:620375
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Myotonic Dystrophy 1
Respiratory distress, Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Bradycardia ORPHA:226313
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... ORPHA:99106
Tetanus
Respiratory distress, Tachypnea, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Temple Syndrome
Joint hypermobility, Flexion contracture, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Mercury Poisoning
Hypotension, Respiratory distress, Dyspnea, Tachycardia, Hypertension ORPHA:330021
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Palpitations, B... ORPHA:66529
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Staphylococcal Necrotizing Pneumonia
Hypotension, Respiratory distress, Shock, Tachypnea, Dyspnea ORPHA:36238
Isolated Atp Synthase Deficiency
Respiratory distress, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiom... OMIM:261740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Tachypn... ORPHA:26793
Avian Influenza
Congestive heart failure, Respiratory distress, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Respiratory distres... ORPHA:363705
X-Linked Centronuclear Myopathy
Respiratory distress ORPHA:596
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Bone cyst, Hypertriglyceridemia ORPHA:528
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea ORPHA:411703
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary arterial hypertension, ... OMIM:616482
Tularemia
Respiratory distress, Tachycardia ORPHA:3392
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea ORPHA:2759
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Contractures of the large joints, Acroosteolysis of ... ORPHA:2457
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Ischemic s... ORPHA:90068
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Abnormal... ORPHA:99104
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Death in infancy, Neonatal death, Tachypnea, Pulmonary arterial hypertension, Dyspnea OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Intrauterine growth retardation, Persistent fetal ... OMIM:612863
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Eisenmenger Syndrome
Elevated jugular venous pressure, Patent ductus arteriosus, Right ventricular failure, Tricuspid ... ORPHA:97214
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Death in childhood OMIM:211530
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Elbow flexion contracture, Joint stiffness, Hyperlipidemia, Acroosteolysis of distal ... OMIM:248370
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Hypercholestero... ORPHA:412
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress OMIM:250940
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Dilated cardiomyopathy, Portal hypertension, Congestive heart failure ORPHA:367
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Death in childhood, ... OMIM:617303
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Respiratory distress, Death in childhood, Death in infancy, Cerebral hemorrhage OMIM:620278
Tetrasomy 5P
Respiratory distress, Heart murmur, Pulmonary arterial hypertension, Congestive heart failure ORPHA:3309
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia, Joint hypermobility ORPHA:2479
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Arrhythmia, Myoca... ORPHA:31824
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypertrophic cardiomyopathy OMIM:619383
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Death in childhood, Hypertrophic cardiomyopathy OMIM:220110
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Chitayat Syndrome
Respiratory distress OMIM:617180
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Joint hypermobility ORPHA:96184
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Alfadhel Syndrome
Nasal flaring OMIM:620655
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflo... ORPHA:308552
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Respiratory distress, Shock, Palpitations, He... ORPHA:340
Kniest Dysplasia
Respiratory distress, Umbilical hernia OMIM:156550
Moebius Syndrome
Respiratory distress OMIM:157900
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Gaucher Disease, Perinatal Lethal
Respiratory distress, Intrauterine growth retardation, Apnea, Neonatal death OMIM:608013
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Congenital Enterovirus Infection
Respiratory distress, Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Umbilical hernia ORPHA:1555
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... ORPHA:3342
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Smith-Magenis Syndrome
Joint stiffness, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Pulmonary arterial hypertension, Exertional dyspnea, Hypoventilation ORPHA:98915
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Intrauterine growth retardation, Congestive heart failure OMIM:616271
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in adolescence, Death in infancy, Congestive heart failure OMIM:615512
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Episodic respirato... ORPHA:31826
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Bacterial Toxic-Shock Syndrome
Hypotension, Respiratory distress, Shock, Tachypnea, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Lysinuric Protein Intolerance
Osteopenia, Increased circulating ferritin concentration, Decreased HDL cholesterol concentration... ORPHA:470
Agnathia-Otocephaly Complex
Respiratory distress OMIM:202650
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Myelopathy ORPHA:79241
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea, Pulmonary arterial hypertension OMIM:610913
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Patent ductus arteriosus, Cardiomyopathy OMIM:217980
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Patent ductus arteriosus OMIM:607143
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:264580
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aortic valve stenosis, Pulmonary arterial hypertension, Patent ductus arter... ORPHA:210122
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Scimitar Syndrome
Congestive heart failure, Respiratory distress, Truncus arteriosus, Pulmonary arterial hypertensi... ORPHA:185
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Intrauterine growth retardation, Death in infancy, Congestive heart failure OMIM:617156
Diaphanospondylodysostosis
Respiratory distress, Intrauterine growth retardation OMIM:608022
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Hypertrophic cardiomyopa... ORPHA:505248
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Lujo Hemorrhagic Fever
Hypotension, Respiratory distress, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Mgat2-Cdg
Respiratory distress, Arrhythmia, Patent ductus arteriosus, Reflex asystolic syncope ORPHA:79329
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Patent ductus arteriosus, Umbilical hernia OMIM:618188
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability ORPHA:206436
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Hereditary Angioedema Type 1
Respiratory distress, Hypotension, Dyspnea ORPHA:100050
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr... ORPHA:2131
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Respiratory distress, Hypertrophic cardiomyopathy, Transient ischemic attack, Shorten... ORPHA:365
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy OMIM:183900
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation OMIM:620306
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia, Knee flexion contracture OMIM:620454
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... OMIM:176270
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Xanthelasma, Hyperlipidemia, Increased susceptibility to fractures, Hyperuricemia, Go... ORPHA:79259
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy OMIM:251110
Rodrigues Blindness
Nasal flaring OMIM:268320
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Respiratory distress, Trans... ORPHA:3260
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus OMIM:613309
Choanal Atresia
Respiratory distress ORPHA:137914
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction abnormality, Episo... ORPHA:255210
Sepsis In Premature Infants
Hypotension, Bradycardia, Dyspnea, Tachycardia, Nasal flaring ORPHA:90051
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Patent ductus arteriosus OMIM:300968
Achondroplasia
Respiratory distress, Death in infancy OMIM:100800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Respiratory distress, Intrauteri... ORPHA:79282
Neuroblastoma
Respiratory distress, Hypertension ORPHA:635
Q Fever
Vasculitis, Respiratory distress, Myocarditis, Abnormal left ventricular function, Pericarditis ORPHA:781
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood OMIM:613848
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:17
Japanese Encephalitis
Respiratory distress, Abnormal pattern of respiration, Irregular respiration ORPHA:79139
Congenital Myasthenic Syndrome
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira... ORPHA:98914
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Pachyonychia Congenita
Respiratory distress ORPHA:2309
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
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus ORPHA:177907
Radio-Renal Syndrome
Respiratory distress, Dyspnea ORPHA:3015
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus ORPHA:1051
Farber Disease
Respiratory distress ORPHA:333
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Respiratory distress, Palpitations, ST segment depression, Syn... ORPHA:358
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:209905
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Listeriosis
Arteritis, Congestive heart failure, Respiratory distress, Miscarriage, Myocarditis, Pericarditis ORPHA:533
Toxic Epidermal Necrolysis
Respiratory distress, Gastrointestinal hemorrhage, Sudden cardiac death ORPHA:537
Gaisböck Syndrome
Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circ... ORPHA:90041
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Osteomalacia, ... OMIM:309000
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardio... OMIM:164310
Meier-Gorlin Syndrome 1
Respiratory distress, Intrauterine growth retardation, Death in infancy OMIM:224690
Congenital Tracheomalacia
Intercostal retractions, Apnea, Pulmonary arterial hypertension, Dyspnea, Patent ductus arteriosus ORPHA:95430
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricula... ORPHA:509
Congenital Myopathy 22B, Severe Fetal
Respiratory distress OMIM:620369
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Adnp Syndrome
Respiratory distress, Umbilical hernia ORPHA:404448
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Myelomeningocele, Mitral stenosis, Patent ductus arteriosus, Pulmonic stenosis OMIM:306955
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... ORPHA:2556
Coccidioidomycosis
Vasculitis, Vasospasm, Respiratory distress, Cerebral ischemia, Pericarditis ORPHA:228123
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hyperaldosteronism, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia... ORPHA:534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress ORPHA:536467
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress ORPHA:37042
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Umbilical hernia, Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus... ORPHA:2255
Ear-Patella-Short Stature Syndrome
Respiratory distress, Intrauterine growth retardation, Dyspnea ORPHA:2554
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Joint hypermobility OMIM:300972
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Paroxysmal dyspnea, Respiratory distress, Tricuspid regurgitation, Mit... ORPHA:99125
Arboleda-Tham Syndrome
Respiratory distress, Intrauterine growth retardation, Patent ductus arteriosus, Pulmonic stenosis OMIM:616268
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Respiratory distress, Intrauterine growth retardatio... ORPHA:508488
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Cryptococcosis
Respiratory distress, Dyspnea ORPHA:1546
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Esophageal Atresia
Respiratory distress, Episodic respiratory distress ORPHA:1199
Campomelic Dysplasia
Respiratory distress, Apnea, Spina bifida, Spinal dysraphism OMIM:114290
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Dilated cardiomyopathy, Dyspnea, Bradycardia ORPHA:79404
Congenital Tracheal Stenosis
Respiratory distress, Dyspnea, Patent ductus arteriosus ORPHA:141127
Congenital Disorder Of Deglycosylation 1
Respiratory distress OMIM:615273
Isolated Arrhinia
Respiratory distress ORPHA:1134
Rubinstein-Taybi Syndrome 1
Respiratory distress, Spina bifida occulta, Patent ductus arteriosus, Spina bifida OMIM:180849
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Tuberous Sclerosis Complex
Respiratory distress, Hypertension, Internal hemorrhage ORPHA:805
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Nocardiosis
Respiratory distress, Dyspnea, Pericarditis ORPHA:31204
Schinzel-Giedion Syndrome
Respiratory distress, Neural tube defect, Umbilical hernia ORPHA:798
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress OMIM:305100
Stüve-Wiedemann Syndrome
Respiratory distress, Intrauterine growth retardation, Apnea ORPHA:3206
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Patent ductus arteriosus OMIM:617088
Plague
Hypotension, Respiratory distress, Arrhythmia, Hematemesis, Tachycardia ORPHA:707
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring ORPHA:466943
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:83617
Doors Syndrome
Respiratory distress, Spina bifida occulta, Sirenomelia ORPHA:79500
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Left ventricular systolic dysfunction, Weak puls... ORPHA:51608
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Patent ductus arteriosus, Cardiomyopathy ORPHA:480880
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Three M Syndrome 1
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Growth delay OMIM:273750
Ulbright-Hodes Syndrome
Respiratory distress, Severe intrauterine growth retardation ORPHA:3404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress ORPHA:95455
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress OMIM:614748
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Intrauterine growth retardation ORPHA:99646
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Pmm2-Cdg
Respiratory distress, Hypertrophic cardiomyopathy, Angina pectoris, Intracranial hemorrhage, Peri... ORPHA:79318
3M Syndrome
Short stature, Intrauterine growth retardation ORPHA:2616
Alström Syndrome
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Portal hypertension, Pulm... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

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

Title Journal IMPC Allele PubMed ID
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7. Molecular genetics & genomic medicine (October 2023) Cul7tm1a(EUCOMM)Wtsi PMC10767403

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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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