Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
endothelin converting enzyme-like 1
Synonyms:
XCE,  DINE

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... OMIM:208081
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... ORPHA:266
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction OMIM:253240
Asbestos Intoxication
Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vital capacity, Diffuse ... ORPHA:2302
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia OMIM:615872
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... ORPHA:91359
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, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... OMIM:615348
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Cyanosis, Neonatal death, Ground-glass opacification, Tach... OMIM:265120
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea OMIM:267450
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... ORPHA:90117
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Atelectasis, Abnormal pulmona... ORPHA:70588
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... OMIM:614915
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification OMIM:619773
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Atelectasis, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging OMIM:617232
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Respiratory distress, Apnea, Nodular pattern on pulmonary HRCT, Nonspecific... OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:616726
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure OMIM:613869
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacification, Pneumo... ORPHA:1302
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... OMIM:616081
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Pulmonary infiltrates, Asthma, Cystic patt... OMIM:610978
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... OMIM:614399
Pneumocystosis
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo... ORPHA:723
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... ORPHA:724
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Cystic pattern on pulmonary HRCT, Cyano... OMIM:610913
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c... OMIM:611890
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Respiratory insufficiency, Distal amyotrophy, Abnormal... OMIM:605253
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Upper... ORPHA:98913
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... ORPHA:3348
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... OMIM:619334
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Diffuse reticular or finel... ORPHA:79127
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... OMIM:609524
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:618781
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... OMIM:614370
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Diaphragmatic eventration, Degeneration of anterior horn cel... OMIM:604320
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... OMIM:619611
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Respiratory ... OMIM:609284
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Increased variabilit... OMIM:300717
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... ORPHA:36238
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respirator... ORPHA:178320
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea OMIM:610910
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Limb muscle weakness, Respiratory failure OMIM:600561
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory fai... OMIM:618291
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Ground-... ORPHA:199241
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Decreased nerve conduction veloci... ORPHA:90103
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Recurrent aspiration pneumoni... ORPHA:2590
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, ... ORPHA:747
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:234810
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscl... OMIM:606071
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... ORPHA:454836
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Pulmonary Hemosiderosis
Respiratory insufficiency, Transient pulmonary infiltrates OMIM:178550
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... OMIM:300770
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary infiltrates, Pulmona... ORPHA:90060
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opacification, Bronchiectasis,... ORPHA:2032
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... ORPHA:133
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Res... OMIM:616867
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Hyperekplexia 4
Distal arthrogryposis, Respiratory failure, Flexion contracture, Camptodactyly OMIM:618011
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... OMIM:612954
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neo... ORPHA:217563
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory insufficiency, Respiratory failure, Knee flexion contracture OMIM:313420
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita OMIM:615330
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory insufficiency, Respiratory failure OMIM:276950
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary infiltrates, Pneumothorax, Restrictive ventilatory defect, Emphysema, H... OMIM:612387
Bronchogenic Cyst
Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea ORPHA:2357
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis ORPHA:254361
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Respiratory failure, Motor... ORPHA:803
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... ORPHA:352447
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Nonproduc... ORPHA:60025
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Atelectasis, Chronic sinusitis, Productive cough,... ORPHA:244
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... ORPHA:70
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... OMIM:310200
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... ORPHA:1145
Congenital Lethal Erythroderma
Respiratory insufficiency, Urticaria, Death in infancy ORPHA:1954
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... OMIM:605355
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona... ORPHA:95430
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Pulmonary infiltrates, Purpura, Cough ORPHA:375
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, Abnormality of somatosenso... ORPHA:98755
Buerger Disease
Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Leigh Syndrome
Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Bronchiectasis, ... OMIM:244400
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Tricuspid Atresia
Cyanosis ORPHA:1209
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pneumonia, Abnormal respiratory syst... ORPHA:449280
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Aspergillosis
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Diffuse reticular or fin... ORPHA:1163
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... OMIM:253310
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency... OMIM:615512
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Cough OMIM:619468
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure, Flexion contracture, Distal amyotrophy OMIM:616505
Tularemia
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Weakness of facial musculature, Death in childhood, Optic atrophy, Increase... OMIM:220110
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Cough ORPHA:2314
Niemann-Pick Disease, Type C2
Jaundice, Death in childhood, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Flexion contracture, Respiratory insufficiency, Death in inf... OMIM:615368
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Death in adolescence, Death in infancy OMIM:618042
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Scapuloperoneal amyot... OMIM:181405
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Snakebite Envenomation
Respiratory paralysis, Erythema, Angioedema, Respiratory failure, Ecchymosis, Epistaxis ORPHA:449285
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Crackles, Parenchymal consolidation, Ground-glass opacification, W... ORPHA:79128
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Eosinophilia, Familial
Pulmonary infiltrates OMIM:131400
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Atelectasis, Aspiration, Hypoventilation, Intercostal muscle weakness,... ORPHA:258
Farber Disease
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... ORPHA:333
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Goodpasture Syndrome
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Crackles, Ret... OMIM:233450
Niemann-Pick Disease, Type B
Dyspnea, Decreased DLCO, Diffuse reticular or finely nodular infiltrations OMIM:607616
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Respiratory failure, Death in infancy, Flexion contracture ORPHA:1194
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Combined Oxidative Phosphorylation Deficiency 3
Optic neuropathy, Death in childhood, Respiratory insufficiency, Optic atrophy, Rhabdomyolysis, R... OMIM:610505
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy OMIM:617186
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Optic atrophy, Elbow flexion contracture, Arthrogryp... OMIM:617301
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Myelitis, Lower limb muscle w... ORPHA:2912
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... ORPHA:538
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Crackles, Atelectasis, Purpura, Ecchymosis, Rhinitis ORPHA:319213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure OMIM:618278
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory insufficiency, Pulmonary arterial hypertension, Respirat... OMIM:613845
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Optic atrophy, Respiratory failure, Arthrogry... ORPHA:496641
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... OMIM:156530
Bickerstaff Brainstem Encephalitis
Weakness of facial musculature, Abnormality of the autonomic nervous system, Decreased motor nerv... ORPHA:79138
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Peripartum Cardiomyopathy
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertiona... ORPHA:563
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Atelectasis, Exertional ... ORPHA:365
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... ORPHA:2020
Alg1-Cdg
Respiratory failure ORPHA:79327
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased intramyocellular lipid droplets, Rhabdomyolysis, Respiratory failure, Restrictive venti... ORPHA:26791
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Resp... ORPHA:308552
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Pulmonary infiltrates, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, ... ORPHA:183
Zygomycosis
Pulmonary infiltrates, Sinusitis, Air crescent sign, Acute infectious pneumonia, Parenchymal cons... ORPHA:73263
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Atelectasis, Neonatal death OMIM:269860
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... ORPHA:1329
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage ORPHA:335
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato... ORPHA:536467
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Infantile Krabbe Disease
Respiratory distress, Decreased nerve conduction velocity, Optic atrophy, Shoulder girdle muscle ... ORPHA:206436
Griscelli Syndrome Type 2
Pulmonary infiltrates, Petechiae, Jaundice, Premature graying of hair ORPHA:79477
Granulomatous Disease, Chronic, X-Linked
Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion OMIM:306400
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates, Jaundice OMIM:246400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Immunodeficiency 27A
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia OMIM:209950
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Myopathy OMIM:609015
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Increased muscle lipid content, Elbow flexion contracture, Deat... OMIM:608836
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Abnormal pulmonary thoracic imaging finding, Recurrent ... ORPHA:980
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Relapsing Polychondritis
Erythema, Abnormal pattern of respiration, Cough, Atelectasis, Purpura, Dyspnea ORPHA:728
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Respiratory insufficiency, Lower limb muscle weakness, Skeletal myo... ORPHA:746
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Optic atrophy, Respiratory failure ORPHA:70474
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Lower limb amyotrophy, Respiratory failure ORPHA:280210
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Sandestig-Stefanova Syndrome
Respiratory failure, Camptodactyly OMIM:618804
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure OMIM:619847
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Tetrasomy 5P
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:3309
Osteopetrosis, Autosomal Recessive 5
Limb hypertonia, Optic atrophy, Optic disc pallor, Respiratory failure, Facial palsy, Stillbirth OMIM:259720
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio... ORPHA:99106
Whim Syndrome
Sinusitis, Atelectasis, Recurrent pneumonia, Pneumonia, Bronchiectasis ORPHA:51636
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic neuropathy, Apnea, Respiratory insufficiency, Increased intramyocellular lipid droplets, Op... OMIM:252010
Sea-Blue Histiocytosis
Pulmonary infiltrates, Petechiae ORPHA:158029
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... ORPHA:420741
Drug Reaction With Eosinophilia And Systemic Symptoms
Pulmonary infiltrates, Interstitial pneumonitis, Erythema, Cough, Angioedema, Dyspnea ORPHA:139402
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Arnold-Chiari Malformation Type Ii
Apnea, Cyanosis, Pneumonia, Inspiratory stridor ORPHA:1136
Legionnaires Disease
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Jaundice ORPHA:549
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory insufficiency, Respiratory failure OMIM:618329
Dravet Syndrome
Cyanotic episode ORPHA:33069
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Fusariosis
Pulmonary infiltrates, Sinusitis, Air crescent sign, Parenchymal consolidation, Ground-glass opac... ORPHA:228119
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Acrocyanosis, Erythema ORPHA:343
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Cystic Echinococcosis
Asthma, Urticaria, Abnormal pulmonary thoracic imaging finding, Jaundice ORPHA:400
Leigh Syndrome
Multiple joint contractures, Optic atrophy, Respiratory failure, Abnormal pattern of respiration,... ORPHA:506
Meckel Syndrome 14
Cardiorespiratory arrest, Cyanosis, Pneumothorax OMIM:619879
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Wrist flexion ... ORPHA:254528
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Thymoma, Familial
Respiratory insufficiency OMIM:274230
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Respiratory insufficiency, Spina bifida, Death in infancy ORPHA:1120
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary infiltrates, Pulmonary arterial hypertension, Telangiectasia of the skin ORPHA:220393
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... ORPHA:209905
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Pulmonary infiltrates OMIM:618394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Cyan... OMIM:187300
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea ORPHA:31826
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Waldenström Macroglobulinemia
Pulmonary infiltrates, Urticaria, Cutis marmorata, Respiratory insufficiency, Purpura, Pleural ef... ORPHA:33226
Gaucher Disease, Type I
Dyspnea, Pulmonary infiltrates, Pulmonary arterial hypertension, Epistaxis OMIM:230800
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
22Q11.2 Deletion Syndrome
Asthma, Atelectasis, Purpura, Chronic pulmonary obstruction ORPHA:567
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure, Pleural effusion ORPHA:679
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Oculocerebrorenal Syndrome Of Lowe
Respiratory insufficiency, Atelectasis, Death in infancy ORPHA:534
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Poems Syndrome
Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory insufficiency, Respiratory failure OMIM:304120
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp... OMIM:610655
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Chand Syndrome
Atelectasis ORPHA:1401
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Steinert Myotonic Dystrophy
Facial diplegia, Weakness of facial musculature, Respiratory insufficiency, Pelvic girdle muscle ... ORPHA:273
Pericardial And Diaphragmatic Defect
Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Neonatal respirato... ORPHA:2847
Granulomatosis With Polyangiitis
Pulmonary infiltrates, Sinusitis, Respiratory insufficiency, Cough, Rhinorrhea OMIM:608710
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Cough, Respiratory failure, Pneumonia, Pleural effusion, Ecchymo... ORPHA:340
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Optic atrophy, Aspiration OMIM:618651
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan... OMIM:600376
Dermatomyositis
Telangiectasia of the skin, Diffuse reticular or finely nodular infiltrations, Respiratory insuff... ORPHA:221
Bloom Syndrome
Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Telangiectasia, Rhinitis, R... ORPHA:125
Listeriosis
Respiratory distress, Miscarriage, Jaundice, Pneumonia, Respiratory failure ORPHA:533
Niemann-Pick Disease, Type A
Prolonged neonatal jaundice, Diffuse reticular or finely nodular infiltrations OMIM:257200
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Pulmonary infiltrates, Cough, Restrictive ventilatory defect, Emphysema, Hypoxemi... OMIM:181000
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis ORPHA:268943
Majeed Syndrome
Pulmonary infiltrates, Cough ORPHA:77297
Tarp Syndrome
Apnea, Cyanosis ORPHA:2886
Costello Syndrome
Macroglossia, Tracheomalacia, Respiratory insufficiency, Vestibular schwannoma, Rhabdomyosarcoma,... OMIM:218040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Death ... OMIM:300868
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Histiocytoid Cardiomyopathy
Cyanosis, Cough, Tachypnea ORPHA:137675
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension ORPHA:99050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Central hypoventilation, Cyanosis, Cardiorespiratory arrest, Hypoventilation, Obstructive... ORPHA:293987
Digeorge Syndrome
Asthma, Chronic pulmonary obstruction, Recurrent sinusitis, Atelectasis, Recurrent pneumonia OMIM:188400
Niemann-Pick Disease Type C
Pulmonary infiltrates, Jaundice, Aspiration pneumonia, Respiratory insufficiency, Respiratory fai... ORPHA:646
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary infiltrates, Acute respiratory distress syndrome, Respiratory insufficiency, Chronic lu... OMIM:620005
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea ORPHA:2299
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Pulmonary infiltrates, Urticaria, Vasculitis in the skin, Cutis mar... ORPHA:3260
Graft Versus Host Disease
Pulmonary infiltrates, Jaundice, Pneumonia ORPHA:39812
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Abetalipoproteinemia
Distal lower limb muscle weakness, Respiratory failure, Myopathy ORPHA:14
Craniorachischisis
Myelomeningocele, Spinal dysraphism, Cervical spina bifida, Congenital diaphragmatic hernia ORPHA:63260
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Diastasis recti, Flexion contracture of thumb, Miscarriage, Flexion contracture, Macroglossia, Ca... ORPHA:96334
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Recurrent pneumonia, Skeletal muscle atrophy, Respiratory failure ORPHA:647
Myhre Syndrome
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Respiratory insufficiency, Camptodac... OMIM:139210
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Pitt-Hopkins Syndrome
Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea ORPHA:2896
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Camptodactyly of finger, Respiratory failure ORPHA:2554
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Cocaine Intoxication
Respiratory distress, Pulmonary infiltrates, Wheezing, Tachypnea, Cough, Hyperventilation, Pneumo... ORPHA:90068
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia ORPHA:2556
Granulomatosis With Polyangiitis
Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Cough... ORPHA:900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Primary Sjögren Syndrome
Airway obstruction, Lymphocytic interstitial pneumonia, Nonproductive cough, Cutis marmorata, Pur... ORPHA:289390
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Jaundice ORPHA:731
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... ORPHA:97214
Vexas Syndrome
Pulmonary infiltrates OMIM:301054
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... ORPHA:740
Tuberous Sclerosis Complex
Respiratory distress, Generalized abnormality of skin, Respiratory failure ORPHA:805
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary infiltrates OMIM:606367
Coccidioidomycosis
Respiratory distress, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidation, Cough, P... ORPHA:228123
Chronic Graft Versus Host Disease
Pulmonary infiltrates, Airway obstruction, Poor wound healing, Erythema, Cough, Wheezing, Pneumot... ORPHA:99921
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Postinfectious Vasculitis
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Acrocyanosis ORPHA:48435
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Cyanosis, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failu... ORPHA:99125
Pagod Syndrome
Congenital diaphragmatic hernia, Optic atrophy, Death in infancy, Meningocele, Spina bifida ORPHA:991
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Respiratory failure, Emphysema ORPHA:500150
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Aicardi-Goutières Syndrome
Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice ORPHA:51
Neuroblastoma, Susceptibility To, 1
Mediastinal mass OMIM:256700
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Bruising susceptibility, Repeated... OMIM:130050
Autoimmune Lymphoproliferative Syndrome
Pulmonary infiltrates, Urticaria, Bruising susceptibility ORPHA:3261
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... ORPHA:287
Carney Triad
Pulmonary infiltrates ORPHA:139411
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:51608
Behçet Disease
Pulmonary infiltrates, Pulmonary embolism, Pleural effusion ORPHA:117
Malt Lymphoma
Pulmonary infiltrates ORPHA:52417
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis ORPHA:285
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth OMIM:236680
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Elbow flexion contracture, Arthrogryposis multiplex congenita, Camptodactyly OMIM:615065

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ecel1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ecel1.

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

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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
Ecel1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ecel1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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