Not currently registered for phenotyping at IMPC

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

Gene Summary

lysine (K)-specific demethylase 6A

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
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
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Mucus Inspissation Of Respiratory Tract
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis OMIM:253240
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Stillbirth OMIM:265880
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis OMIM:616726
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Interlobular septal thickening, Diffuse reti... ORPHA:2302
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis OMIM:300455
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Asthma, Nonproductive... ORPHA:2902
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Intercostal retrac... ORPHA:91359
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass opacificati... OMIM:610978
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific int... OMIM:610921
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Restric... ORPHA:724
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly OMIM:306990
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... ORPHA:264675
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Perching Syndrome
Respiratory distress OMIM:617055
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary arterial hypertension, Coug... OMIM:234810
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... OMIM:211960
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology OMIM:615373
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... OMIM:610913
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Ground-glass opacification, R... ORPHA:79127
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion ORPHA:50251
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chr... OMIM:244400
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Respiratory distress, Myelomeningocele ORPHA:66637
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, Reticular patter... ORPHA:2032
Gaucher Disease Type 2
Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Bronchogenic Cyst
Pneumonia, Cough, Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis ORPHA:2357
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis ORPHA:254361
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Pulmonary infiltrates, Respiratory failure... ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Interlobular septal thickening, Neona... OMIM:265120
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Alpha-1-Antitrypsin Deficiency
Wheezing, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema OMIM:613490
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia... OMIM:613673
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Nevus Comedonicus Syndrome
Spina bifida, Microcephaly, Spina bifida occulta ORPHA:64754
Respiratory distress ORPHA:673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Neonatal respiratory distress OMIM:615042
Pulmonary Hemosiderosis
Respiratory insufficiency, Transient pulmonary infiltrates OMIM:178550
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Pneumothorax, Cough, Pulmonary infiltrates, Hydrocephalus, Restrictive ventilatory defect, Dyspne... ORPHA:538
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... ORPHA:90060
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Pleu... ORPHA:2414
Agnathia-Otocephaly Complex
Holoprosencephaly, Respiratory distress, Tracheomalacia OMIM:202650
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Decreased DLCO, Dyspnea OMIM:178500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Schisis Association
Spina bifida, Anencephaly, Microcephaly ORPHA:63862
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Congenita... ORPHA:1120
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... ORPHA:3392
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia OMIM:606763
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... ORPHA:99931
Chiari Malformation Type Ii
Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Holoprosencephaly OMIM:600674
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Pulmonary infiltrates, ... OMIM:612387
Anaplastic Thyroid Carcinoma
Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Congenital muscular torticollis ORPHA:2345
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Farber Disease
Respiratory insufficiency, Respiratory distress, Diffuse reticular or finely nodular infiltration... ORPHA:333
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... ORPHA:1163
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Atrial septal defect ORPHA:51208
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Short-Rib Thoracic Dysplasia 12
Anencephaly, Respiratory insufficiency, Holoprosencephaly, Neonatal death, Hydrocephalus, Atelect... OMIM:269860
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Autosomal Dominant Hyper-Ige Syndrome
Cough, Atelectasis ORPHA:2314
Nephronophthisis-Like Nephropathy 2
Pulmonary infiltrates, Cough, Bronchiectasis OMIM:619468
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Respiratory distress, Death in infancy ORPHA:166272
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary infiltrates, Respiratory failure, Dyspnea ORPHA:70578
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... ORPHA:258
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Dyspnea OMIM:211530
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Abnormal nasal mucus secretion... ORPHA:137914
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return, Anemia, Erythroid hypoplasia OMIM:618313
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Lujo Hemorrhagic Fever
Crackles, Rhinitis, Respiratory distress, Nonproductive cough, Atelectasis ORPHA:319213
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Left ventricular noncompaction OMIM:613426
Amish Lethal Microcephaly
Spina bifida, Agenesis of corpus callosum, Microcephaly, Lissencephaly ORPHA:99742
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Respiratory distress ORPHA:990
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobular septal thicke... ORPHA:199241
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Hydrocephalus, Restrict... ORPHA:536467
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... ORPHA:79321
Spina bifida, Sirenomelia ORPHA:3169
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertional dyspnea, ... ORPHA:365
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Atrial Standstill
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... ORPHA:1344
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Aplasia of the left hemidiaphragm, Spina bifida, Hydrocephalus, P... ORPHA:2437
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea ORPHA:2004
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Cough, Respiratory insufficiency ORPHA:375
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Acute infectious pn... ORPHA:73263
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus ORPHA:163596
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ground-glass opacification on pulmon... ORPHA:79128
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Neonatal death, Left ventricular hypertrophy, Left ventricular noncompact... OMIM:619167
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia ORPHA:226313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Endocardial fibroelasto... ORPHA:99776
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Dohle Bodies And Leukemia
Acute myeloid leukemia, Secundum atrial septal defect, Anemia, Leukocyte inclusion bodies OMIM:223350
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Recurrent pneumonia, Atelectasis ORPHA:51636
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Aortic valve stenosis, Spinal dysr... OMIM:617660
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Death in infancy, Episodic respiratory distress OMIM:301790
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... ORPHA:449280
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Respiratory distress ORPHA:370924
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, H... ORPHA:1908
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Chronic pulmonary obstruction, Occipital myelomeningocele, Spina bi... ORPHA:567
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... ORPHA:98915
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Umbilical hernia OMIM:156550
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcif... ORPHA:1393
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Pneumonia, Cough, Respiratory distress, Hydrocephalus, Nodular pattern on pulmonary HRCT, Dyspnea... ORPHA:1546
Relapsing Polychondritis
Dyspnea, Atelectasis, Cough, Abnormal pattern of respiration ORPHA:728
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia, Hydrocephalus, Aqueductal stenosis ORPHA:93259
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Microcephaly ORPHA:1327
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... ORPHA:63259
Tachypnea, Respiratory distress ORPHA:3299
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus ORPHA:3309
Immunodeficiency 27A
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia OMIM:209950
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Campomelic Dysplasia
Respiratory distress, Apnea, Hydrocephalus, Tracheobronchomalacia OMIM:114290
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus OMIM:612863
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Diabetic Embryopathy
Ventricular septal defect, Transposition of the great arteries, Hydrocephalus, Tetralogy of Fallo... ORPHA:1926
Moebius Syndrome
Respiratory distress OMIM:157900
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Umbilical hernia, Atelectasis, Respiratory insufficiency ORPHA:534
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:220110
Chand Syndrome
Atelectasis ORPHA:1401
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea ORPHA:70474
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory failure, Respiratory distress, Apnea, Respiratory insufficiency OMIM:608836
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Myelomeningocele, Anencephaly, A... ORPHA:2369
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Aqueductal stenosis ORPHA:93260
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Umbilical hernia ORPHA:1555
Gaucher Disease, Perinatal Lethal
Respiratory distress, Neonatal death, Apnea OMIM:608013
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Neu-Laxova Syndrome 1
Short umbilical cord, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation... OMIM:256520
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Death in childhood OMIM:617303
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency ORPHA:367
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus OMIM:123790
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pulmonary arterial hypertension ORPHA:363705
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Rodrigues Blindness
Nasal flaring OMIM:268320
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Sinusitis, Productive cough, Pneumonia, Bronchiectasis, Ground-glass opacification, Pulmonary inf... ORPHA:228119
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Respiratory distress, Pneumonia, Episodic tachypnea ORPHA:26793
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress OMIM:217980
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Gaucher Disease, Type I
Pulmonary infiltrates, Dyspnea, Epistaxis, Pulmonary arterial hypertension OMIM:230800
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates OMIM:246400
Trisomy 18
Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Conge... ORPHA:3380
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress OMIM:266910
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... ORPHA:209905
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Pulmonary infiltrates, Hyperventi... ORPHA:90068
Focal Dermal Hypoplasia
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Diastasis r... ORPHA:2092
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Pneumonia, Cough, Pleural empyema, Respiratory distress, Pulmonary infiltrates, Hydrocephalus, Ex... ORPHA:228123
Goodpasture Syndrome
Crackles, Tachypnea, Ground-glass opacification, Cough, Exertional dyspnea, Pulmonary infiltrates... OMIM:233450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Stridor, Pulmonary arterial hypertension, Respiratory distress, Hydrocephalus, Airway obstruction ORPHA:505248
Immunodeficiency 60 And Autoimmunity
Pulmonary infiltrates, Bronchiectasis OMIM:618394
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Oculopharyngodistal Myopathy 1
Hypercapnia, Respiratory insufficiency due to muscle weakness, Respiratory distress, Aspiration, ... OMIM:164310
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Pagod Syndrome
Meningocele, Situs inversus totalis, Congenital diaphragmatic hernia, Hypoplastic left heart, Spi... ORPHA:991
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Productive cough, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive cough, Respiratory... ORPHA:31204
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Bacterial Toxic-Shock Syndrome
Sinusitis, Respiratory distress, Tachypnea, Pneumonia ORPHA:36234
Neu-Laxova Syndrome
Abnormal cortical gyration, Absent septum pellucidum, Pachygyria, Macrogyria, Spina bifida, Polym... ORPHA:2671
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Dyspnea, Pulmonary arterial hypertension ORPHA:220393
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida, Atrial septal defect, Tetral... OMIM:274000
Drug Reaction With Eosinophilia And Systemic Symptoms
Dyspnea, Pulmonary infiltrates, Cough, Interstitial pneumonitis ORPHA:139402
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Recurrent pneumonia, Orthopnea, Nonp... ORPHA:980
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respiration ORPHA:79139
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism ORPHA:79282
Sepsis In Premature Infants
Nasal flaring, Dyspnea, Abnormal mucociliary clearance, Abnormal respiratory system physiology ORPHA:90051
Arterial Tortuosity Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Cardiorespiratory arrest ORPHA:3342
Legionnaires Disease
Restrictive ventilatory defect, Pulmonary infiltrates, Cough, Respiratory insufficiency ORPHA:549
Idiopathic Hypereosinophilic Syndrome
Cough, Respiratory distress, Pulmonary infiltrates, Asthma, Pulmonary embolism, Dyspnea, Pleural ... ORPHA:3260
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Q Fever
Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:781
Sea-Blue Histiocytosis
Pulmonary infiltrates ORPHA:158029
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... ORPHA:1199
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Torticollis, Patent ductus arteriosus, Spina bifida, Unilateral fa... OMIM:619480
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Splenomegaly OMIM:612918
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma OMIM:109400
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Fanconi Anemia
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Abnormal aortic valve morphology, P... ORPHA:84
Isolated Arrhinia
Respiratory distress ORPHA:1134
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Cough, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion ORPHA:340
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Cough, Pulmonary infiltrates, Asthma ORPHA:183
Congenital Tracheal Stenosis
Wheezing, Upper airway obstruction, Respiratory distress, Dyspnea, Neonatal asphyxia ORPHA:141127
Cystic Echinococcosis
Abnormal pulmonary thoracic imaging finding, Asthma ORPHA:400
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Cough ORPHA:537
Griscelli Syndrome Type 2
Pulmonary infiltrates ORPHA:79477
Respiratory distress ORPHA:79329
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation ORPHA:255210
Adnp Syndrome
Respiratory distress, Aspiration, Umbilical hernia ORPHA:404448
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Pachyg... OMIM:304050
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Jacobsen Syndrome
Ventricular septal defect, Intrauterine growth retardation, Spina bifida, Hypoplastic left heart,... ORPHA:2308
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Majeed Syndrome
Pulmonary infiltrates, Cough ORPHA:77297
Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Rhinorrhea, Cough, Pulmonary infiltrates OMIM:608710
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... OMIM:192350
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Central sleep apnea OMIM:615273
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Scimitar Syndrome
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough ORPHA:185
Semilobar Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Neural tube defect, Hydrocephalus, Chronic lung d... ORPHA:93924
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Hydrocephalus ORPHA:2556
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Umbilical hernia, Neural tube defect ORPHA:798
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Ear-Patella-Short Stature Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Respiratory failure, Dyspnea ORPHA:79404
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Pulmonary infiltrates, Restric... OMIM:181000
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Prader-Willi Syndrome Due To Translocation
Respiratory distress ORPHA:177907
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Meier-Gorlin Syndrome 1
Respiratory distress OMIM:224690
Nail-Patella Syndrome
Spina bifida OMIM:161200
Tuberous Sclerosis Complex
Respiratory failure, Respiratory distress, Noncommunicating hydrocephalus ORPHA:805
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Waldenström Macroglobulinemia
Pulmonary infiltrates, Epistaxis, Pleural effusion, Respiratory insufficiency ORPHA:33226
Respiratory failure, Respiratory distress, Pneumonia ORPHA:533
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress OMIM:616268
Cleidocranial Dysplasia
Respiratory distress, Neonatal respiratory distress OMIM:119600
Hallermann-Streiff Syndrome
Spina bifida, Microcephaly OMIM:234100
Aortic Arch Interruption
Tachypnea, Exertional dyspnea, Respiratory distress ORPHA:2299
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress OMIM:306955
Doors Syndrome
Arrhinencephaly, Sirenomelia, Respiratory distress, Spina bifida occulta, Aspiration pneumonia ORPHA:79500
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma ORPHA:3206
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Asthma ORPHA:466943
Graft Versus Host Disease
Pulmonary infiltrates, Pneumonia ORPHA:39812
Vexas Syndrome
Pulmonary infiltrates OMIM:301054
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary infiltrates OMIM:606367
Exstrophy-Epispadias Complex
Abnormal heart morphology, Spina bifida, Hydrocephalus ORPHA:322
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Eisenmenger Syndrome
Wheezing, Hypoxemia, Pulmonary arterial hypertension, Exertional dyspnea, Respiratory distress, I... ORPHA:97214
Granulomatosis With Polyangiitis
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Epistaxis, Cough, Pulmonary ... ORPHA:900
Gitelman Syndrome
Respiratory distress ORPHA:358
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Rhinitis, Cough, Respiratory distress, Chronic lung disease, Respiratory failure requi... ORPHA:95455
Primary Sjögren Syndrome
Airway obstruction, Abnormal pulmonary thoracic imaging finding, Lymphocytic interstitial pneumon... ORPHA:289390
Rubinstein-Taybi Syndrome 1
Respiratory distress, Spina bifida occulta, Obstructive sleep apnea OMIM:180849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Respiratory distress, Pleural effusion, Cough ORPHA:509
Kabuki Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Short stature OMIM:300867
Chronic Graft Versus Host Disease
Wheezing, Airway obstruction, Bronchiectasis, Pneumothorax, Cough, Pulmonary infiltrates, Dyspnea... ORPHA:99921
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Umbilical hernia ORPHA:2255
Congenital Total Pulmonary Venous Return Anomaly
Apneic episodes in infancy, Paroxysmal dyspnea, Pulmonary arterial hypertension, Exertional dyspn... ORPHA:99125
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Respiratory distress, Acute infectious pneumonia ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress ORPHA:480880
Carney Triad
Pulmonary infiltrates ORPHA:139411
Niemann-Pick Disease Type C
Respiratory failure, Pulmonary infiltrates, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Spina bifida occulta ORPHA:508488
Behçet Disease
Pulmonary infiltrates, Pleural effusion, Pulmonary embolism ORPHA:117
Malt Lymphoma
Pulmonary infiltrates ORPHA:52417
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension ORPHA:51608
Autoimmune Lymphoproliferative Syndrome
Pulmonary infiltrates ORPHA:3261
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Alström Syndrome
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... ORPHA:64
Respiratory distress, Aspiration pneumonia ORPHA:79318
Kabuki Syndrome
Hydrocephalus, Cerebral cortical atrophy, Microcephaly ORPHA:2322


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 14 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The histone demethylase Kdm6b regulates subtype diversification of mouse spinal motor neurons during development. Nature communications (February 2022) Kdm6atm1c(EUCOMM)Wtsi PMC8854633
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation. eLife (August 2021) Kdm6atm1a(EUCOMM)Wtsi PMC8443249
HNF1A recruits KDM6A to activate differentiated acinar cell programs that suppress pancreatic cancer. The EMBO journal (March 2020) Kdm6atm1c(EUCOMM)Wtsi PMC7196917
Intergenerational epigenetic inheritance of cancer susceptibility in mammals. eLife (April 2019) Kdm6atm1c(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) Kdm6atm2a(EUCOMM)Wtsi 29736013
The histone demethylase Kdm6b regulates a mature gene expression program in differentiating cerebellar granule neurons. Molecular and cellular neurosciences (December 2017) Kdm6atm1c(EUCOMM)Wtsi 29254825
Bladder-cancer-associated mutations in RXRA activate peroxisome proliferator-activated receptors to drive urothelial proliferation. eLife (November 2017) Kdm6atm1c(EUCOMM)Wtsi Kdm6atm1a(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) Kdm6atm1c(EUCOMM)Wtsi PMC5664495
A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription. Molecular cell (July 2017) Kdm6atm1a(EUCOMM)Wtsi PMC5574165
Contrasting roles of histone 3 lysine 27 demethylases in acute lymphoblastic leukaemia. Nature (August 2014) Kdm6atm1b(EUCOMM)Jae PMC4209203
KDM6 demethylase independent loss of histone H3 lysine 27 trimethylation during early embryonic development. PLoS genetics (August 2014) Kdm6atm1c(EUCOMM)Wtsi PMC4125042
UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLoS genetics (September 2012) Kdm6atm1c(EUCOMM)Wtsi Kdm6atm1a(EUCOMM)Wtsi Kdm6atm1b(EUCOMM)Wtsi PMC3459986
The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming. Nature (August 2012) Kdm6atm1a(EUCOMM)Jhha Kdm6atm1b(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) Kdm6atm1b(EUCOMM)Jae PMC3420177

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MGI Allele Allele Type Produced
Kdm6atm2c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Kdm6atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kdm6atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kdm6atm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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