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Gene: Ecel1 MGI:1343461

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

endothelin converting enzyme-like 1

Synonyms:

XCE, DINE

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 Ecel1 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 Ecel1 (1 diseases)
Human diseases predicted to be associated with Ecel1 (380 diseases)

The table below shows human diseases associated to Ecel1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Arthrogryposis, Distal, Type 5D		Decreased muscle mass, Elbow flexion contracture, Camptodactyly	OMIM:615065

The table below shows human diseases predicted to be associated to Ecel1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ...	OMIM:611369
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp...	OMIM:300717
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ...	OMIM:615348
Spinal Muscular Atrophy, Type I	Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As...	ORPHA:2902
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n...	ORPHA:90117
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,...	OMIM:616081
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Congenital Myopathy 14	Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi...	OMIM:614399
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary...	ORPHA:330012
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
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
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n...	OMIM:611890
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn...	ORPHA:98913
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ...	OMIM:619334
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,...	ORPHA:171433
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo...	ORPHA:199241
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ...	OMIM:620265
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Breath-Holding Spells	Cyanosis	OMIM:607578
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure...	OMIM:620296
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia	OMIM:619057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio...	OMIM:604320
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Nemaline Myopathy 10	Death in infancy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle ...	OMIM:616165
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi...	OMIM:619611
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Respiratory failure, Limb muscle weakness	OMIM:600561
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn...	ORPHA:2257
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory insufficiency due...	ORPHA:2590
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre...	OMIM:606071
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Hepatic Veno-Occlusive Disease	Respiratory failure, Jaundice	ORPHA:890
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior ho...	ORPHA:2254
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira...	OMIM:178550
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Congenital contracture	OMIM:225753
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ...	OMIM:620249
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract...	OMIM:616867
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Weakness of facial musculature, Respiratory failure	OMIM:618637
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec...	OMIM:620233
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy	OMIM:618240
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Hyperekplexia 4	Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly	OMIM:618011
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation, Lipoid pneumonia	OMIM:620326
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficien...	OMIM:245400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon...	ORPHA:133
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato...	OMIM:618186
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture	OMIM:313420
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r...	ORPHA:803
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:615330
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu...	ORPHA:70
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,...	ORPHA:171430
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Buerger Disease	Acrocyanosis	ORPHA:36258
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re...	ORPHA:352447
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f...	OMIM:620278
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Myelitis	ORPHA:71211
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, A...	ORPHA:98755
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Central hypoventilation, Optic atrophy, Apnea	OMIM:618233
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,...	OMIM:310200
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Leigh Syndrome	Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C...	ORPHA:2038
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough	ORPHA:2314
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du...	OMIM:618291
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Goodpasture Syndrome	Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO...	OMIM:233450
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Distal amyotrophy, Respiratory failure, Flexion contracture, Optic atrophy	OMIM:616505
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Skeletal muscle atrophy, Respiratory i...	OMIM:615512
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator...	OMIM:220110
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest...	ORPHA:538
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections	ORPHA:2759
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita	OMIM:607598
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl...	OMIM:613177
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Apnea, Flexion contracture, Optic atrophy, Elbow flexion contracture, Respirator...	OMIM:617301
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure	ORPHA:363400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger	ORPHA:1194
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Congenital Diaphragmatic Hernia	Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox...	ORPHA:2140
Poliomyelitis	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Abnormal motor nerve...	ORPHA:2912
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Skeletal muscle atrophy, ...	ORPHA:496641
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Absence Of The Pulmonary Artery	Orthopnea, Abnormal pulmonary thoracic imaging finding, Cyanosis, Recurrent respiratory infection...	ORPHA:980
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo...	ORPHA:420741
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Asth...	ORPHA:183
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Metatropic Dysplasia	Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi...	OMIM:156530
Alg1-Cdg	Respiratory failure	ORPHA:79327
Short-Rib Thoracic Dysplasia 12	Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:269860
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Palmoplantar cutis laxa, Neonatal death...	OMIM:616482
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Dyspnea, Rhabdomyolysis, Optic atrophy, Respiratory insuffici...	OMIM:610505
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr...	ORPHA:365
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return	ORPHA:860
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary...	ORPHA:3309
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h...	ORPHA:563
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in...	OMIM:613845
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy	ORPHA:2707
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res...	ORPHA:26791
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U...	ORPHA:141127
Microphthalmia, Syndromic 12	Neonatal death, Congenital diaphragmatic hernia	OMIM:615524
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Foot dorsiflexor weakness, Hypercapnia, Hypoplasia of the musculature, Respirato...	ORPHA:2020
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi...	ORPHA:308552
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ...	ORPHA:206436
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni...	ORPHA:73263
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency	OMIM:609015
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Tachypnea	ORPHA:3426
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow fle...	OMIM:608836
Relapsing Polychondritis	Dyspnea, Atelectasis, Erythema, Cough, Abnormal pattern of respiration, Purpura	ORPHA:728
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Meckel Syndrome 14	Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:619879
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul...	ORPHA:746
Sandestig-Stefanova Syndrome	Respiratory failure, Camptodactyly	OMIM:618804
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx	ORPHA:280210
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Respiratory failure	ORPHA:3240
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Skeletal muscle atrophy, Apnea, Optic neuropathy, Ragged-red...	OMIM:252010
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Stillbirth, Limb hypertonia	OMIM:259720
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:618329
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator...	ORPHA:1199
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy	OMIM:616538
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture, Limb hypertonia	OMIM:620327
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema	ORPHA:31826
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c...	ORPHA:254528
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Death in infancy	OMIM:617478
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Myopathy, Respiratory failur...	ORPHA:506
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary...	ORPHA:3342
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Respiratory failure, Death in childhood	OMIM:618252
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Muscular dystrophy	ORPHA:88618
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Lethal Acantholytic Erosive Disorder	Respiratory failure, Fragile skin	ORPHA:158687
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Respiratory insufficiency, Death in infancy	ORPHA:534
Joubert Syndrome 21	Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis	OMIM:615636
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Congenital diaphragmatic hernia, Respiratory insufficiency, Spina bifida	ORPHA:1120
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema	OMIM:261740
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters...	ORPHA:221
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure	ORPHA:679
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
22Q11.2 Deletion Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Purpura	ORPHA:567
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia...	ORPHA:125
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration	OMIM:223900
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Histiocytoid Cardiomyopathy	Pulmonary edema, Cyanosis, Tachypnea, Cough	ORPHA:137675
Tarp Syndrome	Cyanosis, Apnea, Pulmonary hypoplasia	ORPHA:2886
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Death in childhood, Aspiration	OMIM:618651
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Congenital diaphragm...	ORPHA:2847
Chand Syndrome	Atelectasis	ORPHA:1401
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Respiratory insuffic...	ORPHA:273
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir...	ORPHA:647
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai...	OMIM:613658
Familial Dysautonomia	Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology	ORPHA:1764
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c...	OMIM:300868
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Costello Syndrome	Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Macroglos...	OMIM:218040
Digeorge Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis	OMIM:188400
Niemann-Pick Disease Type C	Jaundice, Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory...	ORPHA:646
Abetalipoproteinemia	Myopathy, Respiratory failure, Distal lower limb muscle weakness	ORPHA:14
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o...	ORPHA:805
Denys-Drash Syndrome	Neonatal death, Neonatal respiratory distress, Congenital diaphragmatic hernia, Posterolateral di...	OMIM:194080
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu...	ORPHA:731
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return	OMIM:306955
Myhre Syndrome	Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, Respirato...	OMIM:139210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Flexion contracture, S...	ORPHA:96334
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary...	ORPHA:97214
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger	ORPHA:2554
Pitt-Hopkins Syndrome	Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia	ORPHA:2556
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str...	ORPHA:48435
Craniorachischisis	Cervical spina bifida, Congenital diaphragmatic hernia, Spinal dysraphism	ORPHA:63260
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:304120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Emphysema, Optic atrophy, Optic nerve hypoplasia	ORPHA:500150
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Hydrolethalus Syndrome 1	Stillbirth, Agenesis of the diaphragm	OMIM:236680
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Elbow flexion contracture, Camptodactyly	OMIM:615065

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 Ecel1

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 Ecel1.

No publications found that use IMPC mice or data for Ecel1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ecel1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ecel1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ecel1^{tm1e(KOMP)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

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