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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:

DINE, XCE

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 (389 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		Camptodactyly, Elbow flexion contracture, Decreased muscle mass	OMIM:615065

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

Disease	Matching phenotypes	Source
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ...	OMIM:611369
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp...	OMIM:615348
Acute Interstitial Pneumonia	Bronchiectasis, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thick...	ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Immunodeficiency 95	Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in...	OMIM:619773
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Cyanosis, Respiratory tract infection, Pulmonary edema, Respiratory failu...	ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertrophy, Desquamat...	OMIM:263000
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration, Respirato...	ORPHA:70589
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ...	OMIM:616081
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor...	ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In...	OMIM:610913
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:613954
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facial diplegia, Neonatal death,...	OMIM:611890
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Respiratory insufficiency, Camptodactyly of finge...	OMIM:614399
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atele...	OMIM:610978
Pneumocystosis	Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef...	ORPHA:723
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Ho...	ORPHA:2032
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Abnormal peripheral action potential ampl...	ORPHA:90117
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm...	ORPHA:2902
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, EMG:...	ORPHA:171433
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly...	ORPHA:370968
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Breath-Holding Spells	Cyanosis	OMIM:607578
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Nemaline Myopathy 10	Nemaline bodies, Skeletal muscle atrophy, Congenital contracture, Death in infancy, Neonatal deat...	OMIM:616165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ...	OMIM:620296
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory...	OMIM:610910
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Neonatal respiratory distress, Respiratory failure	OMIM:619057
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira...	OMIM:178550
Perching Syndrome	Cyanosis	OMIM:617055
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Limb muscle weakness, Respiratory failure, Hand muscle atrophy	OMIM:600561
C1Q Deficiency 2	Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection...	OMIM:620321
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory failure, Lower limb muscle weakness, Respirat...	ORPHA:2590
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Respiratory failure,...	ORPHA:70578
Chronic Pneumonitis Of Infancy	Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis	ORPHA:91359
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf...	ORPHA:60032
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct...	OMIM:604320
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp...	OMIM:608647
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Spinal muscular atrophy, Weakness o...	ORPHA:254875
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at...	OMIM:616867
Waardenburg Syndrome Type 3	Acrocyanosis, Atelectasis	ORPHA:896
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob...	ORPHA:199241
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Bronchiolitis Obliterans	Pneumonia, Bronchiectasis, Ground-glass opacification, Respiratory tract infection, Bronchiolitis...	ORPHA:1303
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Respiratory failure, ...	ORPHA:2254
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Weakness of facial musculature	OMIM:618637
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy	OMIM:618240
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Respiratory failur...	ORPHA:36238
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity	ORPHA:330012
Hyperekplexia 4	Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis	OMIM:618011
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Cryptogenic Organizing Pneumonia	Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Hypoxemia	ORPHA:1302
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ...	OMIM:618042
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Death in child...	OMIM:245400
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Vacterl Association With Hydrocephalus	Stillbirth, Respiratory failure, Respiratory insufficiency	OMIM:276950
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d...	OMIM:618186
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Spondylometaphyseal Dysplasia, X-Linked	Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency	OMIM:313420
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection...	ORPHA:244
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Cyanosis, Pneumothorax, Recu...	ORPHA:2257
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod...	ORPHA:99931
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Pulmonary Alveolar Microlithiasis	Bronchiectasis, Bronchitis, Interlobular septal thickening, Ground-glass opacification, Oxygen de...	ORPHA:60025
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure	ORPHA:1832
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Severe Congenital Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno...	ORPHA:171430
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Avian Influenza	Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Res...	ORPHA:454836
Neuromyelitis Optica Spectrum Disorder	Myelitis, Respiratory failure	ORPHA:71211
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Respiratory insufficiency due...	ORPHA:352447
Cardiomyopathy, Dilated, 2H	Cardiorespiratory arrest, Neonatal death	OMIM:620203
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia	OMIM:245650
Congenital Pulmonary Lymphangiectasia	Pleural effusion, Cyanosis	ORPHA:2414
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis	ORPHA:747
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro...	OMIM:619611
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Pulmonary fibrosis, Abnormal pu...	OMIM:612387
Leigh Syndrome, Nuclear	Optic atrophy, Respiratory failure, Respiratory insufficiency	OMIM:256000
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, I...	OMIM:614370
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure	OMIM:605711
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy, Abnormality of somato...	ORPHA:98755
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Amyotro...	ORPHA:803
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion...	ORPHA:70
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Scedosporiosis	Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu...	ORPHA:449280
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure	OMIM:620326
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ...	OMIM:253310
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu...	ORPHA:217563
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Flexion contracture, Distal amyotrophy, Respiratory failure	OMIM:616505
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Achilles tendon contracture...	OMIM:310200
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,...	ORPHA:133
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Respiratory failure, Anomalous pulmonary venous return, Respiratory failure ...	ORPHA:555874
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea...	OMIM:618291
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Myopathy, Neonatal death, Death in infancy, Stillbirth, Respiratory failure	OMIM:614922
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Cyanosis	ORPHA:444013
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Respiratory failure	OMIM:618233
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu...	OMIM:620233
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Death in infancy, Death in adolesce...	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia, Hypoxemia, Respiratory failure requiring assist...	ORPHA:264675
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat...	ORPHA:333
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Death in childhood	OMIM:615838
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis	OMIM:244400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin	ORPHA:2314
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure	OMIM:607598
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Snakebite Envenomation	Erythema, Respiratory failure, Angioedema, Ecchymosis	ORPHA:449285
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Reduced subcutaneous adipose tissue	ORPHA:363400
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne...	ORPHA:95430
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Flexion contracture, Respiratory failure, Death in infancy, Camptodactyly of finger	ORPHA:1194
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Respiratory failure, Pleural effusion, Hypoxemia	ORPHA:542323
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Respiratory insufficiency, Intercostal muscle weakness, Recurrent lower respiratory ...	ORPHA:258
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Respiratory failure	OMIM:250940
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul...	OMIM:618278
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas...	OMIM:613177
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Death in childhood, Weakness of facial musculature, Increased intramyocellular lip...	OMIM:220110
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Choanal Atresia	Recurrent respiratory infections, Cyanosis	ORPHA:137914
Lymphatic Malformation 12	Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren...	OMIM:620014
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Bruising susceptibility, Respiratory failure	ORPHA:3226
Poliomyelitis	Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low...	ORPHA:2912
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Elbow flexion contracture, Hip contracture, Flexion contracture, Arthrogryposis mu...	OMIM:617301
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Skeletal muscle atrophy, Neurogenic bladder, Arthrogryposis multiplex congenita, R...	ORPHA:496641
Alg1-Cdg	Respiratory failure	ORPHA:79327
Metatropic Dysplasia	Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuffi...	OMIM:156530
Short-Rib Thoracic Dysplasia 12	Neonatal death, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia	OMIM:269860
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:2759
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Death in childhood, Torticollis, Respiratory failure	OMIM:617186
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel...	ORPHA:420741
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema	ORPHA:2038
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Neonatal death	OMIM:615524
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis	ORPHA:335
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Respiratory insufficiency, Death in childhood, Rhabdomyolysis, Death in infancy, O...	OMIM:610505
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Atelectasis, Respiratory insufficiency, Repeated pneumothoraces, Pulmona...	ORPHA:536467
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Respiratory failure	ORPHA:3240
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Neonatal respiratory distress, Cyanosis, Death in infancy, Death in childhood, Recurrent lower re...	OMIM:618426
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Respiratory failure, Myopathy, Respiratory insufficiency	OMIM:609015
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency	OMIM:613845
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Abnormal pleura morphology, Cutis marmorata, Pulmonary infiltrates, Pu...	ORPHA:183
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis	ORPHA:1867
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Respiratory insufficiency	OMIM:617239
Meckel Syndrome 14	Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle...	ORPHA:206436
Lujo Hemorrhagic Fever	Purpura, Atelectasis, Ecchymosis	ORPHA:319213
Sandestig-Stefanova Syndrome	Camptodactyly, Respiratory failure	OMIM:618804
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lip...	ORPHA:26791
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Respiratory insufficiency	ORPHA:159
Congenital Myasthenic Syndrome	Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff...	ORPHA:98914
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Left ventricular hypertrophy, Respiratory insufficiency due to muscle ...	ORPHA:308552
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency du...	ORPHA:365
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Respiratory insufficiency, Rhabdomyolysis, Skeletal myopathy, Left ve...	ORPHA:746
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa...	OMIM:233450
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Respiratory failure	ORPHA:280210
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Respiratory failure	ORPHA:2707
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture, Increased mu...	OMIM:608836
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Palmoplantar cutis laxa, Respiratory failure, Neonatal death	OMIM:616482
Tetrasomy 5P	Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia	ORPHA:3309
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pulmonary artery atresia, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia	OMIM:620371
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Limb hypertonia, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure	OMIM:259720
Zygomycosis	Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac...	ORPHA:73263
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory failure, Respiratory insufficiency	OMIM:618329
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Respiratory insufficiency, Ragged-red muscle fibers, Death in infancy, I...	OMIM:252010
Mercury Poisoning	Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory failure	OMIM:616538
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ...	ORPHA:2020
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis	OMIM:306400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Limb hypertonia, Respiratory failure	OMIM:620327
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis	ORPHA:3426
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure	OMIM:617248
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Respiratory failure, Death in childhood	OMIM:618252
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Hypocapnia, Pulmonary edema, Abnormal pulmonary thoracic imaging f...	ORPHA:980
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Death in infancy	OMIM:617478
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Wrist flexion contracture, Flexion contracture of finger, Camptodactyly, Macrogl...	ORPHA:254528
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Abnormal pulmonary interstitial morphology, R...	ORPHA:209905
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Respiratory failure	ORPHA:88618
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Lethal Acantholytic Erosive Disorder	Fragile skin, Respiratory failure	ORPHA:158687
Leigh Syndrome	Optic atrophy, Skeletal muscle atrophy, Multiple joint contractures, Myopathy, Respiratory failure	ORPHA:506
Congenital Tracheal Stenosis	Neonatal asphyxia, Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascendi...	ORPHA:141127
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency	ORPHA:534
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Spina bifida, Death in infancy, Respiratory insufficiency	ORPHA:1120
Malignant Atrophic Papulosis	Telangiectasia of the skin, Pleural effusion, Respiratory failure	ORPHA:679
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Sepsis In Premature Infants	Jaundice, Petechiae, Purpura, Cyanosis	ORPHA:90051
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Radio-Renal Syndrome	Chylothorax, Pleural effusion, Respiratory failure	ORPHA:3015
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Pulmonary artery stenosis, Telangiectasia of the skin, Prematurely aged...	ORPHA:3342
Necrotizing Enterocolitis	Cyanosis	ORPHA:391673
Multiple Mitochondrial Dysfunctions Syndrome 7	Cyanosis, Respiratory failure requiring assisted ventilation	OMIM:620423
Relapsing Polychondritis	Erythema, Purpura, Atelectasis	ORPHA:728
Peripartum Cardiomyopathy	Left ventricular hypertrophy, Respiratory failure	ORPHA:563
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Telangiectasia, Cutaneous photosensitivity, R...	ORPHA:125
Poems Syndrome	Plethora, Acrocyanosis, Pleural effusion, Respiratory insufficiency due to muscle weakness	ORPHA:2905
22Q11.2 Deletion Syndrome	Purpura, Atelectasis, Abnormal lung lobation	ORPHA:567
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice, Bronchiectasis, Bronchitis	ORPHA:60
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure	OMIM:617809
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Anomalous pulmonary venous return	ORPHA:99104
Chand Syndrome	Atelectasis	ORPHA:1401
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis	ORPHA:99106
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Cyanosis	ORPHA:1329
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Respiratory insuffi...	ORPHA:273
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Pleural effusion, Cyanosis	OMIM:261740
Dermatomyositis	Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Lung adenoca...	ORPHA:221
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis	ORPHA:31826
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent respiratory infections, Cutane...	ORPHA:647
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis	ORPHA:3427
Familial Dysautonomia	Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections	ORPHA:1764
Nocardiosis	Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure	ORPHA:31204
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Cyanosis, Nasal...	OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio...	OMIM:610655
Joubert Syndrome 21	Optic atrophy, Respiratory failure, Megalopapilla	OMIM:615636
Listeriosis	Pneumonia, Jaundice, Respiratory failure, Miscarriage	ORPHA:533
Esophageal Atresia	Bronchitis, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia	ORPHA:1199
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis	OMIM:223900
Tarp Syndrome	Cyanosis, Pulmonary hypoplasia	ORPHA:2886
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Cardiogenic Shock	Cyanosis, Hypoxemia	ORPHA:97292
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ...	ORPHA:3384
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Respiratory failure	ORPHA:340
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm	ORPHA:2847
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Flexion c...	OMIM:300868
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Jaundice, Abnormal lung m...	ORPHA:646
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Respiratory failure, Respiratory insuffici...	OMIM:613658
Unilateral Polymicrogyria	Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Abetalipoproteinemia	Distal lower limb muscle weakness, Respiratory failure, Myopathy	ORPHA:14
Histiocytoid Cardiomyopathy	Pulmonary edema, Cyanosis	ORPHA:137675
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Myhre Syndrome	Generalized muscle hypertrophy, Respiratory insufficiency, Camptodactyly, Respiratory failure, Sk...	OMIM:139210
Denys-Drash Syndrome	Neonatal respiratory distress, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hern...	OMIM:194080
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,...	OMIM:123700
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis	ORPHA:99103
Costello Syndrome	Respiratory insufficiency, Vestibular schwannoma, Achilles tendon contracture, Macroglossia, Rhab...	OMIM:218040
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cardi...	ORPHA:293987
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Recurrent pneumonia, Jaundice, Respiratory failure, Pulmonary hypoplasia	ORPHA:731
Tuberous Sclerosis Complex	Respiratory failure, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Generalized abn...	ORPHA:805
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pneumothorax, Fragile skin, Respiratory failure	ORPHA:79404
Digeorge Syndrome	Recurrent pneumonia, Recurrent sinusitis, Atelectasis	OMIM:188400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Interphalangeal joint contracture of finger, Diastasis recti, Camptodactyly, M...	ORPHA:96334
Heterotaxy, Visceral, 1, X-Linked	Bilateral trilobed lung, Total anomalous pulmonary venous return, Cyanosis	OMIM:306955
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Respiratory failure requiring assisted ventila...	ORPHA:99125
Craniorachischisis	Spinal dysraphism, Cervical spina bifida, Congenital diaphragmatic hernia	ORPHA:63260
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Respiratory failure	ORPHA:2556
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Vasculitis in the skin, Recurrent streptococcus pne...	ORPHA:48435
Ear-Patella-Short Stature Syndrome	Respiratory failure, Camptodactyly of finger	ORPHA:2554
Aortic Arch Interruption	Aortopulmonary window, Cyanosis	ORPHA:2299
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Respiratory insufficiency, Spina bifida, Stillbirth, Respiratory failure	OMIM:304120
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral lung agenesis, Respiratory failure	ORPHA:500150
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Hutchinson-Gilford Progeria Syndrome	Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ...	ORPHA:740
Eisenmenger Syndrome	Aortopulmonary window, Hypoxemia, Cyanosis	ORPHA:97214
Aicardi-Goutières Syndrome	Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis	ORPHA:51
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Respiratory failure	ORPHA:2636
Ulbright-Hodes Syndrome	Pneumothorax, Respiratory failure, Pulmonary hypoplasia	ORPHA:3404
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc...	ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Generalized Arterial Calcification Of Infancy	Cyanosis	ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Bruising susceptibility	ORPHA:285
Hydrolethalus Syndrome 1	Agenesis of the diaphragm, Stillbirth	OMIM:236680
Arthrogryposis, Distal, Type 5D	Camptodactyly, Elbow flexion contracture, Decreased muscle mass	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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