Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Kdm6a MGI:1095419

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

lysine (K)-specific demethylase 6A

Synonyms:

Utx

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kdm6a 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.

Human diseases associated with Kdm6a (2 diseases)
Human diseases predicted to be associated with Kdm6a (492 diseases)

The table below shows human diseases associated to Kdm6a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Kabuki Syndrome 2		Postnatal growth retardation, Intrauterine growth retardation, Short stature	OMIM:300867
Kabuki Syndrome		Hydrocephalus	ORPHA:2322

The table below shows human diseases predicted to be associated to Kdm6a by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia	OMIM:254120
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough	ORPHA:64741
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As...	ORPHA:2902
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi...	OMIM:619611
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c...	ORPHA:91359
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach...	OMIM:263000
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive...	ORPHA:1302
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Succinic Acidemia	Respiratory distress	OMIM:600335
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact...	OMIM:211960
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec...	OMIM:620233
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ...	ORPHA:60033
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin...	OMIM:244400
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon...	ORPHA:133
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch...	OMIM:613490
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci...	OMIM:300770
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis, Anemia	OMIM:617408
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Joubert Syndrome 15	Exencephaly	OMIM:614464
Perching Syndrome	Respiratory distress	OMIM:617055
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Hydrocephalus, Pulmonary in...	ORPHA:538
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ...	OMIM:611134
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
High Altitude Pulmonary Edema	Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary edema	ORPHA:330012
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough	ORPHA:142
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac...	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Congenital Vertical Talus	Myelomeningocele	ORPHA:178382
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A...	ORPHA:1120
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Wildervanck Syndrome	Meningocele	ORPHA:3456
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Malaria	Respiratory distress	ORPHA:673
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat...	ORPHA:3392
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida	ORPHA:2345
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Short-Rib Thoracic Dysplasia 12	Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Pulmonary ...	OMIM:269860
Slc35A1-Cdg	Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection	OMIM:620011
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,...	ORPHA:137914
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Cough	ORPHA:2314
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	OMIM:211530
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Tra...	OMIM:613177
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Agnathia-Otocephaly Complex	Respiratory distress, Holoprosencephaly, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemothorax, Pu...	ORPHA:199241
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp...	ORPHA:79128
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly	OMIM:603194
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections	ORPHA:2759
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie...	ORPHA:536467
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Triploidy	Polyhydramnios, Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Hol...	ORPHA:3376
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis	ORPHA:319213
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr...	ORPHA:365
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect	OMIM:223350
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro...	OMIM:619167
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni...	ORPHA:73263
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Pulmonar...	OMIM:616482
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele	ORPHA:60015
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect	ORPHA:79321
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute...	ORPHA:1393
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra...	OMIM:613426
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous pulmonary venous...	ORPHA:2311
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Holoprosencephaly	ORPHA:990
Pulmonary Alveolar Microlithiasis	Bronchitis, Ground-glass opacification, Increased pulmonary vascular resistance, Nonproductive co...	ORPHA:60025
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr...	OMIM:306955
22Q11.2 Deletion Syndrome	Spina bifida, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Hydroce...	ORPHA:567
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia, Pulm...	ORPHA:3309
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect	OMIM:614424
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Umbilical hernia	ORPHA:226313
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Relapsing Polychondritis	Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough	ORPHA:728
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Achondroplasia	Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction, Pulmonary hypopl...	OMIM:100800
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Hydrocephalus, Cough...	ORPHA:1546
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningoce...	OMIM:130720
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Biotinidase Deficiency	Respiratory distress, Myelopathy, Apnea, Hyperventilation	ORPHA:79241
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina...	ORPHA:2369
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P...	ORPHA:185
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy	OMIM:183900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, Umbil...	ORPHA:534
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections	OMIM:619383
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Pfeiffer Syndrome Type 2	Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia	ORPHA:93259
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:608022
Gaucher Disease, Perinatal Lethal	Respiratory distress, Pulmonary hypoplasia, Apnea, Neonatal death	OMIM:608013
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re...	OMIM:617303
Kniest Dysplasia	Respiratory distress, Umbilical hernia, Tracheomalacia	OMIM:156550
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, Ventricular septal defect	ORPHA:2789
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Moebius Syndrome	Respiratory distress	OMIM:157900
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:98914
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Hydrocephalus	OMIM:612863
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atr...	OMIM:616546
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, Upper airwa...	ORPHA:141127
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Umbilical hernia, Hydrocephalus	ORPHA:1555
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Recurrent upper respiratory tract infections	OMIM:607143
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia...	ORPHA:3380
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth...	ORPHA:90068
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Pagod Syndrome	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Situs inversus totalis, Meningocele...	ORPHA:991
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Pulmonary edema	ORPHA:79330
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Focal Dermal Hypoplasia	Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her...	ORPHA:2092
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Pfeiffer Syndrome Type 3	Respiratory distress, Aqueductal stenosis, Tracheomalacia	ORPHA:93260
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosu...	OMIM:256520
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Hydrocephalus, Pleural effusion, Pulmonary edema	OMIM:261740
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress...	ORPHA:1199
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Pulmonary arterial hypertension	ORPHA:363705
Chand Syndrome	Atelectasis	ORPHA:1401
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Stridor, Pulmonary arteria...	ORPHA:505248
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea	ORPHA:36234
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Rodrigues Blindness	Nasal flaring	OMIM:268320
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Coccidioidomycosis	Respiratory distress, Pneumonia, Hydrocephalus, Pulmonary infiltrates, Pleural empyema, Parenchym...	ORPHA:228123
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Recurren...	OMIM:114290
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Digeorge Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis, Umb...	OMIM:188400
Japanese Encephalitis	Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati...	ORPHA:79139
Fibular Hemimelia	Spina bifida, Abnormal heart morphology	ORPHA:93323
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Umbilical hernia, Communicating hydrocephalus	OMIM:618188
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Restrictive v...	ORPHA:537
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f...	ORPHA:3342
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema	OMIM:616038
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion	ORPHA:781
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus	OMIM:123790
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal defect, Spina bifida,...	ORPHA:508498
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Pulmonary infiltrates, Pulmonary fibro...	ORPHA:3260
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy...	OMIM:613776
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,...	OMIM:274000
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Spina bifida, Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular ca...	OMIM:619480
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans...	OMIM:192350
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma	OMIM:109400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism	ORPHA:79282
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Fanconi Anemia	Spina bifida, Hydrocephalus, Patent ductus arteriosus, Oligohydramnios, Abnormal cardiac septum m...	ORPHA:84
Neu-Laxova Syndrome	Skeletal muscle atrophy, Spina bifida, Polyhydramnios, Flexion contracture, Muscular dystrophy, A...	ORPHA:2671
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:79329
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Umbilical hernia	ORPHA:404448
Ethylene Glycol Poisoning	Pulmonary edema, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea	ORPHA:17
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Jacobsen Syndrome	Ventricular septal defect, Spina bifida, Hypoplastic left heart, Intrauterine growth retardation,...	ORPHA:2308
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Orofaciodigital Syndrome Vi	Occipital meningocele, Hypoplastic left heart	OMIM:277170
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalu...	ORPHA:363958
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa...	ORPHA:805
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Neural tube defect, Pulmonary hypoplasia, Umbilical he...	ORPHA:798
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Meningocele	ORPHA:397715
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Lathosterolosis	Meningocele	ORPHA:46059
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Flexion contra...	OMIM:180849
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Aortic Arch Interruption	Respiratory distress, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Hydrocephalus	ORPHA:2556
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ...	OMIM:616268
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Semilobar Holoprosencephaly	Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi...	ORPHA:93924
Hallermann-Streiff Syndrome	Spina bifida	OMIM:234100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
8Q24.3 Microdeletion Syndrome	Respiratory distress, Branchial cyst, Spina bifida occulta, Abnormal lung lobation	ORPHA:508488
Phocomelia, Schinzel Type	Meningocele	ORPHA:2879
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Meningocele, Mitral valve prolapse	ORPHA:558
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary window, H...	ORPHA:97214
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Abnormal heart morphology	ORPHA:322
Doors Syndrome	Respiratory distress, Spina bifida occulta, Aspiration pneumonia, Sirenomelia	ORPHA:79500
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Umbilical hernia, Pulmonary artery stenosis	ORPHA:2255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Pulmonary hypoplasia	ORPHA:83617
Leptospirosis	Respiratory distress, Pleural effusion, Pulmonary hemorrhage, Cough	ORPHA:509
Aicardi Syndrome	Spina bifida	OMIM:304050
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia	OMIM:304120
Gitelman Syndrome	Respiratory distress	ORPHA:358
Kabuki Syndrome 2	Postnatal growth retardation, Intrauterine growth retardation, Short stature	OMIM:300867
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Arima Syndrome	Occipital meningocele	OMIM:243910
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension	ORPHA:51608
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele	OMIM:276820
Alström Syndrome	Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent upper respira...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Aspiration pneumonia	ORPHA:79318
Kabuki Syndrome	Hydrocephalus	ORPHA:2322

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 Kdm6a

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 Kdm6a.

There are 18 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Kdm6b Haploinsufficiency Causes ASD/ADHD-Like Behavioral Deficits in Mice.	Frontiers in behavioral neuroscience (May 2022)	Kdm6a^{tm1c(EUCOMM)Wtsi} Kdm6a^{tm1a(EUCOMM)Wtsi} Kdm6a^{tm1b(EUCOMM)Wtsi}	PMC9194811
The histone demethylase Kdm6b regulates subtype diversification of mouse spinal motor neurons during development.	Nature communications (February 2022)	Kdm6a^{tm1c(EUCOMM)Wtsi}	PMC8854633
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.	eLife (August 2021)	Kdm6a^{tm1a(EUCOMM)Wtsi}	PMC8443249
KDM6A, a histone demethylase, regulates stress hematopoiesis and early B-cell differentiation.	Experimental hematology (June 2021)	Kdm6a^{tm1c(EUCOMM)Wtsi} Kdm6a^{tm1a(EUCOMM)Wtsi}	34126175
UTX promotes CD8⁺ T cell-mediated antiviral defenses but reduces T cell durability.	Cell reports (April 2021)	Kdm6a^{tm1c(EUCOMM)Wtsi}	PMC8112613
HNF1A recruits KDM6A to activate differentiated acinar cell programs that suppress pancreatic cancer.	The EMBO journal (March 2020)	Kdm6a^{tm1c(EUCOMM)Wtsi}	PMC7196917
The X-linked histone demethylase Kdm6a in CD4+ T lymphocytes modulates autoimmunity.	The Journal of clinical investigation (August 2019)	Kdm6a^{tm2a(EUCOMM)Wtsi}	PMC6715385
Intergenerational epigenetic inheritance of cancer susceptibility in mammals.	eLife (April 2019)	Kdm6a^{tm1c(EUCOMM)Jae}	PMC6456297
UTX-mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs.	Nature genetics (May 2018)	Kdm6a^{tm2a(EUCOMM)Wtsi}	29736013
The histone demethylase Kdm6b regulates a mature gene expression program in differentiating cerebellar granule neurons.	Molecular and cellular neurosciences (December 2017)	Kdm6a^{tm1c(EUCOMM)Wtsi}	29254825
Bladder-cancer-associated mutations in RXRA activate peroxisome proliferator-activated receptors to drive urothelial proliferation.	eLife (November 2017)	Kdm6a^{tm1c(EUCOMM)Wtsi} Kdm6a^{tm1a(EUCOMM)Wtsi}	PMC5720590
UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Kdm6a^{tm1c(EUCOMM)Wtsi}	PMC5664495
A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription.	Molecular cell (July 2017)	Kdm6a^{tm1a(EUCOMM)Wtsi}	PMC5574165
Contrasting roles of histone 3 lysine 27 demethylases in acute lymphoblastic leukaemia.	Nature (August 2014)	Kdm6a^{tm1b(EUCOMM)Jae}	PMC4209203
KDM6 demethylase independent loss of histone H3 lysine 27 trimethylation during early embryonic development.	PLoS genetics (August 2014)	Kdm6a^{tm1c(EUCOMM)Wtsi}	PMC4125042
UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development.	PLoS genetics (September 2012)	Kdm6a^{tm1c(EUCOMM)Wtsi} Kdm6a^{tm1a(EUCOMM)Wtsi} Kdm6a^{tm1b(EUCOMM)Wtsi}	PMC3459986
The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming.	Nature (August 2012)	Kdm6a^{tm1a(EUCOMM)Jhha} Kdm6a^{tm1b(EUCOMM)Jhha}	22801502
X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner.	Proceedings of the National Academy of Sciences of the United States of America (July 2012)	Kdm6a^{tm1b(EUCOMM)Jae}	PMC3420177

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kdm6a^{tm2c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Kdm6a^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Kdm6a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kdm6a^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us