Not currently registered for phenotyping at IMPC

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

Gene Summary

endothelin converting enzyme-like 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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

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

Disease Similarity of
Matching phenotypes Source
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Increased... ORPHA:266
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, Respiratory failure, Myofib... OMIM:615348
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Rhinorr... OMIM:615067
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Cough, Respiratory failure requiring assisted ... ORPHA:90117
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Transient pulmonary... ORPHA:70588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency OMIM:617232
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelectasis, Recurrent pneu... OMIM:268500
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Parenchymal consolidation, Pleural effusio... ORPHA:723
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Laryngeal Abductor Paralysis
Respiratory insufficiency, Laryngomalacia ORPHA:2808
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Laryngomalacia ORPHA:1202
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, Ske... OMIM:616081
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Respiratory insuffici... OMIM:611890
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Respiratory insuffi... OMIM:605253
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Hip flexor weak... ORPHA:98913
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Breath-Holding Spells
Cyanosis OMIM:607578
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy, Respiratory failure OMIM:619057
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Respiratory in... OMIM:609284
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency OMIM:600333
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Resp... ORPHA:254875
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Intrinsic hand muscle atrophy, Respiratory insu... ORPHA:90103
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Abnormal pulmonary arter... ORPHA:2257
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency OMIM:614299
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... ORPHA:2590
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Intercostal muscle weakness, Hand muscle atrophy, Distal amyotrop... OMIM:606071
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... OMIM:301830
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... OMIM:612954
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... OMIM:616867
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Optic atrophy, Respiratory failure, Central hypoventilation OMIM:618233
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Respiratory failu... ORPHA:803
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... OMIM:310400
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:265450
Buerger Disease
Acrocyanosis ORPHA:36258
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Respiratory fa... ORPHA:352447
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Facial diplegia, Hypoventilation, Flexion contracture, Quadriceps... ORPHA:70
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... OMIM:605355
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Congenital Lethal Erythroderma
Urticaria, Death in infancy, Respiratory insufficiency ORPHA:1954
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Leigh Syndrome
Optic atrophy, Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Cough, Recurrent r... OMIM:616037
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Respiratory failure, Skele... ORPHA:98755
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Gro... ORPHA:1163
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Cough, Hemothorax, Hypoxemia, Epistaxis, Pleural empyema, Hemoptys... ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Cough, Atelectasis, Wide nasal bridge, Recurrent respiratory inf... ORPHA:2314
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates ORPHA:375
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... OMIM:310200
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:555874
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Respiratory insufficiency, Atelectasis, Hemoptysis, Pulmonary infiltrates ORPHA:340
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop... OMIM:253310
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, N... ORPHA:333
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Res... OMIM:614874
Immunodeficiency 54
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:609981
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor OMIM:615838
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hemoptysis, ... ORPHA:538
Snakebite Envenomation
Epistaxis, Respiratory paralysis, Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Respiratory insufficie... ORPHA:183
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Respiratory failure, Distal amyotrophy, Optic atrophy OMIM:616505
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness, Respiratory... ORPHA:258
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Anomal... ORPHA:141127
Chiari Malformation Type Ii
Inspiratory stridor, Cyanosis OMIM:207950
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy OMIM:607598
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:98914
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Respiratory failure, Death in infancy OMIM:617186
Eosinophilia, Familial
Recurrent bronchitis, Pulmonary infiltrates OMIM:131400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Respiratory failure, Flexion contracture, Death in infancy ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 3
Rhabdomyolysis, Respiratory insufficiency, Death in childhood, Respiratory failure, Optic neuropa... OMIM:610505
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Pulmonary edema, Tachypnea, Hypoxemia ORPHA:542323
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory failure, Optic atroph... OMIM:617301
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Myelitis, Abnormal motor nerve conduction velocity, Respiratory failure requiring assisted ventil... ORPHA:2912
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Optic atrophy, Optic disc pallor, Stillbirth OMIM:259720
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory failure, Respiratory insufficiency OMIM:602088
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility, Recurrent respiratory infections ORPHA:3226
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... OMIM:613845
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic he... ORPHA:2140
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Arthrogryposis multiplex congenita, Respiratory failure requiring assisted ve... ORPHA:496641
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Anteverted nares, Short nose, Respiratory i... ORPHA:536467
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Optic atrophy, Respiratory failure, Respiratory distress ORPHA:2707
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... ORPHA:51636
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary arterial hyp... ORPHA:3309
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibro... ORPHA:420741
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Scapular winging, Increased intramyocellular lipid droplets, Card... ORPHA:26791
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Prominent nose OMIM:614407
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Hemoptysis, Pulmonary arterial hyperte... ORPHA:99106
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Flexion contracture, Wea... ORPHA:2020
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Relapsing Polychondritis
Dyspnea, Purpura, Cough, Erythema, Laryngomalacia, Atelectasis, Abnormal pattern of respiration ORPHA:728
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Depressed nasal bridge ORPHA:284417
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... ORPHA:308552
Short-Rib Thoracic Dysplasia 12
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis OMIM:269860
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Increased muscle lipid content, Respiratory insufficiency, Respirato... OMIM:608836
Air crescent sign, Parenchymal consolidation, Pleural effusion, Cough, Acute infectious pneumonia... ORPHA:73263
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Respiratory distress, Shoulder girdle muscle weak... ORPHA:206436
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Respiratory insufficiency, Skeletal myopathy, Respira... ORPHA:746
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Respiratory failure, Respiratory insufficiency OMIM:607625
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility ORPHA:335
Sandestig-Stefanova Syndrome
Respiratory failure, Wide nasal bridge OMIM:618804
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Arnold-Chiari Malformation Type Ii
Apnea, Cyanosis, Inspiratory stridor, Pneumonia ORPHA:1136
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Respiratory failure, Optic atrophy ORPHA:70474
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Abnormal mitochondria in muscle tissue, Respiratory failure, Optic neu... OMIM:252010
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Abnormal morphology of musculature of pharynx, Laryngeal stridor ORPHA:280210
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Neonatal re... ORPHA:209905
Legionnaires Disease
Restrictive ventilatory defect, Abnormal lung morphology, Abnormal pleura morphology, Cough, Resp... ORPHA:549
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Wide nasal bridge ORPHA:3304
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, De... OMIM:266910
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
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
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... ORPHA:2905
Letterer-Siwe Disease
Jaundice, Pulmonary infiltrates, Dyspnea OMIM:246400
Acrocyanosis, Pulmonary fibrosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema... ORPHA:221
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Purpura OMIM:225750
Griscelli Syndrome Type 2
Jaundice, Petechiae, Pulmonary infiltrates, Premature graying of hair ORPHA:79477
Thymoma, Familial
Respiratory insufficiency OMIM:274230
Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bronchiectasis, P... ORPHA:228119
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Immunodeficiency 27A
Abnormal bronchus physiology, Pulmonary infiltrates, Pneumonia OMIM:209950
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Tachypnea, Cyanosis ORPHA:31826
Cystic Echinococcosis
Pulmonary cyst, Jaundice, Multiple pulmonary cysts, Asthma, Abnormal subpleural morphology, Abnor... ORPHA:400
22Q11.2 Deletion Syndrome
Chronic pulmonary obstruction, Bulbous nose, Purpura, Choanal atresia, Abnormality of the pharynx... ORPHA:567
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... ORPHA:254528
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Pulmonary arteriovenous malformation, S... OMIM:610655
Dravet Syndrome
Cyanotic episode ORPHA:33069
Abnormal sputum, Pleuritis, Respiratory distress, Dyspnea, Pleural effusion, Emphysema, Nonproduc... ORPHA:31204
Leigh Syndrome
Multiple joint contractures, Respiratory failure, Skeletal muscle atrophy, Abnormal pattern of re... ORPHA:506
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Short nose,... ORPHA:3342
Immunodeficiency 60
Pulmonary infiltrates, Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis OMIM:618394
Lethal Acantholytic Erosive Disorder
Fragile skin, Respiratory failure ORPHA:158687
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Pulmonary arterial hypertens... OMIM:187300
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Telangiectasia of the skin ORPHA:679
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent infections due to aspiration OMIM:223900
Chand Syndrome
Depressed nasal bridge, Atelectasis ORPHA:1401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia ORPHA:2326
Drug Rash With Eosinophilia And Systemic Symptoms
Dyspnea, Pulmonary infiltrates, Interstitial pneumonitis, Cough, Erythema, Angioedema ORPHA:139402
Sea-Blue Histiocytosis
Petechiae, Pulmonary infiltrates ORPHA:158029
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Depressed nasal bridge, Stillbirth, Respiratory insufficiency OMIM:304120
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Respiratory insufficiency, Atelectasis ORPHA:534
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Acrocyanosis, Vascular skin abnormality ORPHA:349
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Death in infancy, Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1120
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Prominent nose, Respiratory failure, Recurrent pneumonia, Cut... ORPHA:647
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary fibrosis, Telangiectasia of the skin, Pulmonary arterial hypertension, Pulmona... ORPHA:220393
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Hypoventilation, Cardiorespiratory arrest, Recurrent upper respiratory t... ORPHA:293987
Bloom Syndrome
Respiratory tract infection, Chronic pulmonary obstruction, Pneumonia, Respiratory failure, Rhini... ORPHA:125
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Tarp Syndrome
Apnea, Wide nasal bridge, Pulmonary hypoplasia, Cyanosis, Anteverted nares ORPHA:2886
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Histiocytoid Cardiomyopathy
Cough, Laryngeal web, Pulmonary edema, Tachypnea, Cyanosis ORPHA:137675
Gaucher Disease, Type I
Dyspnea, Epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, ... OMIM:230800
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hyp... OMIM:616749
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Pulmonary arte... OMIM:600376
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Abnormality of masticatory muscle, Pelvic gir... ORPHA:273
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Co... OMIM:181000
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Anteverted nares, Abnormal pattern of respiration, Prominent nasal bri... ORPHA:2896
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Death in childhood, Congenital diaphragmatic hernia, Optic atrophy, Aspiration OMIM:618651
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Recurrent respiratory infections ORPHA:1764
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Hypoxemia, Neonatal respiratory distress, Congenital diaphragm... ORPHA:2847
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Schisis Association
Spina bifida, Congenital diaphragmatic hernia ORPHA:63862
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Fragile skin, Respiratory failure, ... ORPHA:79404
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Short Rib-Polydactyly Syndrome
Abnormal larynx morphology, Abnormal epiglottis morphology, Respiratory failure, Depressed nasal ... ORPHA:1505
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Pulmo... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Exertional dyspnea, Re... ORPHA:99125
Waldenström Macroglobulinemia
Purpura, Pleural effusion, Epistaxis, Respiratory insufficiency, Cutis marmorata, Pulmonary infil... ORPHA:33226
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Jaundice, Respiratory failure, Aspiration pn... ORPHA:646
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Costello Syndrome
Macroglossia, Respiratory insufficiency, Achilles tendon contracture, Tracheomalacia, Respiratory... OMIM:218040
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Tuberous Sclerosis Complex
Respiratory tract infection, Generalized abnormality of skin, Respiratory distress, Respiratory f... ORPHA:805
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Respiratory insufficiency, Meningocele, Spina bifida occulta, Congenital... ORPHA:2311
Myopathy, Distal lower limb muscle weakness, Respiratory failure ORPHA:14
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Jaundice, Pulmonary hypoplasia, Respiratory failure, R... ORPHA:731
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Respiratory insufficiency, Respiratory failure, Gener... OMIM:139210
Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Congenital diaphragmatic hernia ORPHA:63260
Jaundice, Respiratory failure, Pneumonia, Respiratory distress ORPHA:533
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2554
Granulomatosis With Polyangiitis
Restrictive ventilatory defect, Pleuritis, Chronic pulmonary obstruction, Purpura, Pulmonary fibr... ORPHA:900
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Wide nasal bridge, Erythema, Respiratory failure, Wide nose ORPHA:2556
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Aort... ORPHA:97214
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Macroglossia, Flexion contracture of thumb, Diastasis recti, Restrictive ventilatory defect, Camp... ORPHA:96334
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Majeed Syndrome
Cough, Pulmonary infiltrates ORPHA:77297
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Diffuse alveolar hemorrhage, Pulmonary edema, Hemoptysis, ... ORPHA:90068
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Pulmonary infiltrates, Pulmonary fibrosis, Pleural effusion, Vascu... ORPHA:3260
Graft Versus Host Disease
Jaundice, Pulmonary infiltrates, Pneumonia ORPHA:39812
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Bulbous nose, Respiratory failure, Long nose, Prominent nose ORPHA:2636
Primary Sjögren Syndrome
Purpura, Nonproductive cough, Bronchitis, Abnormal pulmonary interstitial morphology, Usual inter... ORPHA:289390
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary infiltrates, Recurrent respiratory infections, Pulmonary interstitial lymphocyte infilt... OMIM:606367
Pagod Syndrome
Spina bifida, Death in infancy, Meningocele, Congenital diaphragmatic hernia, Optic atrophy ORPHA:991
Aicardi-Goutières Syndrome
Acrocyanosis, Prolonged neonatal jaundice, Cutis marmorata ORPHA:51
Ulbright-Hodes Syndrome
Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, Depressed nasal br... ORPHA:3404
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Poor wound healing, Bronchiectasis, Pleural effusion, Cough, Erythema, Bronchi... ORPHA:99921
Respiratory distress, Parenchymal consolidation, Cough, Exudative pleural effusion, Pneumonia, Pl... ORPHA:228123
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Short nose, Emphysema, Wide nasal bridge, Respiratory failure, Depresse... ORPHA:500150
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Fragile skin, Bruising susceptibil... ORPHA:287
Coffin-Lowry Syndrome
Acrocyanosis, Anteverted nares, Cutis marmorata, Wide nose OMIM:303600
Vexas Syndrome
Pulmonary infiltrates OMIM:301054
Spina bifida, Arthrogryposis multiplex congenita, Spinal dysraphism, Syringomyelia, Congenital di... ORPHA:63259
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Autoimmune Lymphoproliferative Syndrome
Urticaria, Pulmonary infiltrates, Bruising susceptibility, Pulmonary fibrosis ORPHA:3261
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Carney Triad
Pulmonary infiltrates ORPHA:139411
Behçet Disease
Pleuritis, Pleural effusion, Pulmonary embolism, Hemoptysis, Pulmonary infiltrates ORPHA:117
Malt Lymphoma
Pulmonary infiltrates, Recurrent respiratory infections ORPHA:52417
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth OMIM:236680
Arthrogryposis, Distal, Type 5D
Camptodactyly, Arthrogryposis multiplex congenita, Elbow flexion contracture, Decreased muscle mass OMIM:615065


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.

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MGI Allele Allele Type Produced
Ecel1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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