Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAP-kinase activating death domain
Synonyms:
9630059K23Rik,  Rab3 GEP

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 Madd 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 Madd by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, EEG abnormality, Death in childhood OMIM:619005
Deeah Syndrome
EEG abnormality, Death in adolescence, Death in childhood, Neonatal respiratory distress, Death i... OMIM:619004
Non-Specific Syndromic Intellectual Disability
Papilledema ORPHA:528084

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Respiratory failure requiring assisted ventilation, Abn... ORPHA:90117
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Mucus Inspissation Of Respiratory Tract
Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:253240
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide OMIM:615872
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Respiratory failure, Neonatal death, Paucity of anterior horn motor neurons, Respirator... OMIM:611890
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Late ... ORPHA:2302
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea ORPHA:64741
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis OMIM:616726
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure, Degeneration of anterior horn cells OMIM:600333
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Acute Interstitial Pneumonia
Nonproductive cough, Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Ground-gla... ORPHA:79126
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Reticular pattern on pulmona... OMIM:610921
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus... ORPHA:2590
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Restrictive ventilatory defect, Dystonia, Hypoxemia, Parenchymal consolida... OMIM:610978
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Abnormal motor nerve conduction velocity, Respiratory failure, Fa... OMIM:614399
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Parenchymal consolidation, Hypoxemia, Asthma... ORPHA:2902
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor OMIM:618637
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary ar... OMIM:265120
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Optic atrophy OMIM:619057
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Respiratory failure, Apnea, Death in infancy, Tremor OMIM:617248
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure OMIM:228940
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure, Optic atrophy OMIM:614299
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Ground-glass opacification, Nonspecific interstitial pneumonia, Hypoxemia, I... OMIM:610913
Hyperekplexia 4
Respiratory failure, Hypsarrhythmia OMIM:618011
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pattern of respiration, Cough, Re... ORPHA:724
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Ai... ORPHA:1303
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Parenchymal consolidation, Pneumonia, Hypoxemia, Tach... ORPHA:36238
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:618291
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distre... ORPHA:168486
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613954
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Degeneration of anterior horn cells, Decreased nerve conduction v... OMIM:604320
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Ground-glass opacification, Reticular patt... ORPHA:99931
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Respiratory failure, Central sleep apnea, EEG with abnormally slow frequenc... ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory failure, Neonatal death, Death in childhood, Neonatal respiratory distress, Respirato... OMIM:245400
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Leigh Syndrome
Dystonia, Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Optic ... OMIM:256000
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Facial palsy ORPHA:370968
Acute Lung Injury
Pulmonary infiltrates, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory... ORPHA:178320
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Dystonia, Abnormal nerve conduction velocity, Res... ORPHA:98755
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation, Optic atrophy OMIM:618233
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:615330
Intermediate Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia ORPHA:171433
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Motor neuron atrophy, Respiratory failure, Dyspnea, Amyot... ORPHA:803
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bilateral facial palsy, Exertional dyspnea ORPHA:254361
Adult Acute Respiratory Distress Syndrome
Pulmonary infiltrates, Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas level ORPHA:70578
Interstitial Lung Disease 1
Restrictive ventilatory defect, Nonspecific interstitial pneumonia, Ground-glass opacification, C... OMIM:619611
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Decreased distal sensory nerve action potential, Obstructive sleep apnea, In... OMIM:606071
Avian Influenza
Nonproductive cough, Pulmonary infiltrates, Ground-glass opacification, Pneumonia, Hypoxemia, Tac... ORPHA:454836
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, Orthopnea, Reduced vital... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Chronic Beryllium Disease
Abnormal respiratory system physiology, Reticulonodular pattern on pulmonary HRCT, Ground-glass o... ORPHA:133
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Respiratory failure, Head titubation ORPHA:3240
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Exertional dyspnea, Interlobular septal thickening, Respirat... OMIM:614370
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Bronchiectasis, Atelectasis, Productiv... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Opisthotonus OMIM:610678
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Facial palsy, Respiratory failure, Respiratory failure requiring a... OMIM:310400
Bronchogenic Cyst
Pneumonia, Cough, Dyspnea, Atelectasis, Abnormal pulmonary thoracic imaging finding ORPHA:2357
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Limb dystonia, Tremor ORPHA:363400
Triosephosphate Isomerase Deficiency
Dystonia, Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weak... OMIM:615512
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Dyspnea ORPHA:352447
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure ORPHA:75840
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Intention tremor, Optic atrophy, Tremor OMIM:616505
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Respiratory failure, Tremor OMIM:617186
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor OMIM:615838
Mercury Poisoning
Dystonia, Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress, Tremor ORPHA:330021
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hypervent... ORPHA:91359
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Chr... OMIM:244400
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Pulmonary infiltrates, Restrictive ventilatory defect, Ground-glass opacific... ORPHA:60025
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia ORPHA:896
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 3
Dystonia, Optic neuropathy, Respiratory failure, Death in childhood, Respiratory insufficiency, O... OMIM:610505
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Respiratory failure requiring assisted ventilation, Restrictive ventilator... ORPHA:90060
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Tachypnea, Pulmonary arterial hypertension, Chro... ORPHA:217563
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Pleural effusion, Br... OMIM:612387
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Respiratory failure, Facial palsy, Respiratory insufficiency, Atelectasis, Pulmonary ... ORPHA:258
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Sandestig-Stefanova Syndrome
Respiratory failure, EEG abnormality OMIM:618804
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Alg1-Cdg
Respiratory failure ORPHA:79327
Peripartum Cardiomyopathy
Asthma, Crackles, Paroxysmal dyspnea, Respiratory failure, Dyspnea, Pulmonary arterial hypertensi... ORPHA:563
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Respiratory failure, Facial palsy, Facial dipl... ORPHA:98905
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure, Optic atrophy, Exaggerated startle response OMIM:617301
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Respiratory failure, Tachypnea, Death in childhood, Atelectasis, Respiratory insufficiency OMIM:618278
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Optic atrophy, Respiratory distress, Dyspnea ORPHA:2707
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Pulmonary infiltrates, Restrictive ventilatory defect, Cough, Dyspnea, At... ORPHA:538
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, EEG abnormality, Pneumonia, Abnormal cranial ... ORPHA:79138
Infantile Krabbe Disease
Opisthotonus, Respiratory failure, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Farber Disease
Atelectasis, Diffuse reticular or finely nodular infiltrations, Respiratory distress, Respiratory... ORPHA:333
Snakebite Envenomation
Respiratory paralysis, Respiratory failure, Epistaxis ORPHA:449285
Severe Congenital Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia ORPHA:171430
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:613845
Leigh Syndrome With Cardiomyopathy
Dystonia, Optic atrophy, Respiratory failure, Respiratory distress, Apnea, Central hypoventilation ORPHA:70474
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Cough ORPHA:2314
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Tachypnea, Pleural effusion, Hypoxemia ORPHA:542323
Lujo Hemorrhagic Fever
Nonproductive cough, Resting tremor, Crackles, Atelectasis, Rhinitis, Respiratory distress ORPHA:319213
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Dystonia, Intention tremor, Asthma, Respiratory failure, Pulmonary arterial ... ORPHA:209905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory failure, Respiratory insufficiency, Neonatal respiratory distress, Apnea, Death in in... OMIM:608836
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Respiratory failure, Dystonia OMIM:607625
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Respiratory failure, Optic disc pallor, Facial palsy, Stillbirth OMIM:259720
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Opisthotonus, Pneumothorax ORPHA:445038
Tularemia
Pulmonary infiltrates, Pneumonia, Pleural effusion, Cough, Respiratory distress, Abnormal pulmona... ORPHA:3392
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Dystonia, Respiratory fa... ORPHA:496641
Zygomycosis
Epistaxis, Sinusitis, Pulmonary infiltrates, Parenchymal consolidation, Abnormal cranial nerve mo... ORPHA:73263
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Respiratory failure, Cardiorespiratory arrest, Restrictive ventilatory defect ORPHA:26791
Boutonneuse Fever
Respiratory failure ORPHA:83313
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Tracheomalacia, Peripapillary atrophy, Atelectasis, Repeated pneu... ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Atelectasis, Exertional dyspnea, Respiratory insufficiency due ... ORPHA:365
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Neonatal death OMIM:269860
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation, Abnormal motor nerve con... ORPHA:2912
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:618329
Leigh Syndrome
Dystonia, Respiratory failure, Athetosis, Abnormal pattern of respiration, Optic atrophy, Hypsarr... ORPHA:506
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia ORPHA:555874
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Cough, Atelectasis OMIM:306400
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Pneumothorax, Respiratory distress OMIM:266910
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Whim Syndrome
Sinusitis, Recurrent pneumonia, Pneumonia, Bronchiectasis, Atelectasis ORPHA:51636
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Recurrent si... ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic neuropathy, Respiratory failure, Respiratory insufficiency, Optic disc pallor, Apnea, Death... OMIM:252010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Arterial Tortuosity Syndrome
Respiratory failure, Cardiorespiratory arrest, Respiratory distress, Dyspnea ORPHA:3342
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Respiratory failure, Pleural effusion, Dyspnea, Produc... ORPHA:31204
Niemann-Pick Disease Type C
Pulmonary infiltrates, Dystonia, Intention tremor, Axial dystonia, Respiratory failure, Limb dyst... ORPHA:646
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Relapsing Polychondritis
Atelectasis, Dyspnea, Abnormal pattern of respiration, Cough ORPHA:728
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Respiratory insufficiency, Death in infancy, EEG abnormality ORPHA:534
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Respiratory insufficiency due to muscle weakness, In... ORPHA:2020
Listeriosis
Pneumonia, Respiratory failure, Miscarriage, Respiratory distress, Tremor ORPHA:533
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
22Q11.2 Deletion Syndrome
Asthma, Aganglionic megacolon, Atelectasis, Chronic pulmonary obstruction, Optic atrophy ORPHA:567
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory failure, Pleural effusion, Cough, Dyspnea, Respiratory distress, Epistaxis ORPHA:340
Chand Syndrome
Atelectasis ORPHA:1401
Bloom Syndrome
Rhinitis, Respiratory failure, Pneumonia, Chronic pulmonary obstruction ORPHA:125
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Respiratory failure, Tachypnea, Cough, Respiratory insufficiency OMIM:613658
Ear-Patella-Short Stature Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Respiratory failure, Dyspnea, Stridor, Pneumothorax, Respiratory distress ORPHA:79404
Abetalipoproteinemia
Respiratory failure ORPHA:14
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:273
Nijmegen Breakage Syndrome
Recurrent pneumonia, Respiratory failure ORPHA:647
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Costello Syndrome
Tracheomalacia, Respiratory failure, Obstructive sleep apnea, Pneumothorax, Respiratory insuffici... OMIM:218040
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2556
Digeorge Syndrome
Recurrent pneumonia, Asthma, Atelectasis, Recurrent sinusitis, Chronic pulmonary obstruction OMIM:188400
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Respiratory failure, Recurrent pneumonia ORPHA:731
Tuberous Sclerosis Complex
Respiratory failure, Respiratory distress ORPHA:805
Absence Of The Pulmonary Artery
Nonproductive cough, Recurrent pneumonia, Dyspnea, Hypocapnia, Bronchiectasis, Pulmonary arterial... ORPHA:980
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Respiratory failure, Optic nerve hypoplasia, Optic atrophy ORPHA:500150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Dyspnea ORPHA:2636
Cystic Echinococcosis
Asthma, Abnormal pulmonary thoracic imaging finding ORPHA:400
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Primary Sjögren Syndrome
Nonproductive cough, Airway obstruction, Abnormality of the peripheral nervous system, Lymphocyti... ORPHA:289390
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, EEG abnormality, Death in childhood OMIM:619005
Deeah Syndrome
EEG abnormality, Death in adolescence, Death in childhood, Neonatal respiratory distress, Death i... OMIM:619004
Non-Specific Syndromic Intellectual Disability
Papilledema ORPHA:528084

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 Madd

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 Madd.

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

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