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Gene: Tlx3 MGI:1351209

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
T cell leukemia, homeobox 3
Synonyms:
Rnx,  Hox11l2,  Tlx1l2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tlx3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tlx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia OMIM:617055
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure, Dysphagia OMIM:613435
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Polyphagia OMIM:620085
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... ORPHA:1302
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Dysphagia OMIM:615348
Ravine Syndrome
Apnea, Anorexia ORPHA:99852
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Inspiratory stridor, Ventila... OMIM:604320
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Succinic Acidemia
Respiratory distress OMIM:600335
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Dysphagia OMIM:618637
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Dysphagia OMIM:618198
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... ORPHA:50251
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Dysphagia OMIM:225753
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Stereotypical hand wringing ORPHA:500545
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... ORPHA:3095
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... OMIM:611890
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Apnea, Dysphagia OMIM:617235
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Dysphagia, Cough ORPHA:77260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Respira... ORPHA:2590
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... ORPHA:137914
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Syringomyelia, Apnea ORPHA:137754
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure, Dysph... OMIM:613954
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... ORPHA:803
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Joubert Syndrome 33
Apnea OMIM:617767
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Respiratory insufficiency, Dysphagia OMIM:617892
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Cervical myelopathy, Syringomyelia, Dysphagia, Inspiratory stridor OMIM:207950
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Erythema, Apnea OMIM:610015
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Dysphagia OMIM:618226
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation OMIM:617903
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior OMIM:237310
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Pontocerebellar Hypoplasia, Type 16
Apnea, Dysphagia OMIM:619527
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Death in infancy, Death in childhood OMIM:613320
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Death in infancy OMIM:201475
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Citrullinemia Type I
Tachypnea ORPHA:247525
Nipah Virus Disease
Respiratory distress, Anorexia, Cough ORPHA:99825
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Dysphagia OMIM:617143
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Malaria
Respiratory distress ORPHA:673
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Respiratory insufficiency, Aggressive behavior OMIM:608093
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Hyperekplexia 4
Respiratory failure OMIM:618011
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Dysphagia OMIM:256030
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Dysphagia OMIM:616867
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Dysphagia OMIM:618253
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:613561
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Anorexia OMIM:619386
Myotonia Fluctuans
Stridor, Apnea, Choking episodes ORPHA:99734
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia ORPHA:2524
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough OMIM:234810
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough ORPHA:142
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactiv... OMIM:619580
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Rh Deficiency Syndrome
Hypoxemia, Jaundice, Tachypnea, Miscarriage ORPHA:71275
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Intermediate Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171433
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress... ORPHA:1145
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Illum Syndrome
Apnea OMIM:208155
Slc35A1-Cdg
Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea ORPHA:26793
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia ORPHA:352447
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Beta-Ketothiolase Deficiency
Anorexia, Tachypnea, Agitation, Cough, Oral aversion ORPHA:134
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paral... ORPHA:449285
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Erythema, Tachypnea, Livedo reticularis, Telangiectasia OMIM:615934
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Hyperparathyroidism, Neonatal Severe
Dyspnea, Polydipsia, Tachypnea OMIM:239200
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema ORPHA:439218
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Dysphagia OMIM:620166
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Fatal Familial Insomnia
Apnea, Dysphagia OMIM:600072
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Dysphagia, ... OMIM:607625
Idiopathic Bronchiectasis
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... ORPHA:60033
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood OMIM:617186
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Asthma, Apnea, Attention deficit hyperactivity disorder ORPHA:10
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Resp... OMIM:617248
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Alpha-1-Antitrypsin Deficiency
Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronchiectasis, Cough OMIM:613490
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Serotonin Syndrome
Restlessness, Tachypnea, Agitation ORPHA:43116
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re... ORPHA:31826
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Spina bifida occulta, Respiratory insufficiency due to muscle... OMIM:618291
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea, Anorexia OMIM:241500
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apnea, Bruxism OMIM:300055
Rett Syndrome
Apnea, Bruxism, Stereotypical hand wringing, Intermittent hyperventilation OMIM:312750
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Interstitial Lung Disease 2
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea OMIM:178500
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Dysphagia ORPHA:70472
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Stridor, Dysphagia, Recurrent aspiration pneumonia OMIM:230900
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Dysphagia OMIM:606612
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Anorexia ORPHA:20
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Dysphagia OMIM:617301
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure, Hyperactivity ORPHA:363400
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Solar Urticaria
Dyspnea, Wheezing, Angioedema, Urticaria, Dermatographic urticaria ORPHA:97230
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Dysphagia, Compulsive behaviors, Aggressive behavior OMIM:615157
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi... OMIM:620278
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Joubert Syndrome 1
Central apnea, Hyperactivity, Episodic tachypnea, Aggressive behavior, Self-mutilation, Neonatal ... OMIM:213300
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Dysphagia, Neonatal death, Petechiae, Purpura OMIM:608013
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Tachypnea OMIM:615751
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Myotonic Dystrophy 1
Respiratory distress, Obsessive-compulsive trait, Dysphagia OMIM:160900
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis ORPHA:36234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia ORPHA:79312
Oromandibular Dystonia
Respiratory distress, Dysphagia, Bruxism ORPHA:93958
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia ORPHA:89844
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Death in infancy, Dysphagia ORPHA:178481
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... ORPHA:133
Stt3B-Cdg
Respiratory distress ORPHA:370924
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Apneic episodes in infancy, Aspiration pneumonia, Choking episodes ORPHA:35069
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Dyspnea, Restrictive ventilatory defect, Cough, Dec... OMIM:619611
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Dysphagia OMIM:620249
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia ORPHA:98805
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Apnea, Death in childhood OMIM:214110
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Apnea OMIM:618056
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Pyruvate Carboxylase Deficiency
Anorexia, Tachypnea, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand flapping, Abn... ORPHA:3008
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation ORPHA:90068
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior OMIM:610188
Alg1-Cdg
Respiratory failure ORPHA:79327
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... ORPHA:2131
Breath-Holding Spells
Cyanosis OMIM:607578
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Apnea, Cardiorespiratory arrest OMIM:608643
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Agitation, Abnormal repetitive mannerisms ORPHA:927
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia OMIM:619482
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration OMIM:614653
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea ORPHA:2299
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Glass Syndrome
Restlessness, Hyperactivity, Apnea, Aggressive behavior, Frequent temper tantrums OMIM:612313
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor ORPHA:100050
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure, Dysphagia OMIM:619847
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... ORPHA:209905
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ... ORPHA:90051
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Cough ORPHA:137675
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Apnea ORPHA:395
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis OMIM:615636
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Poliomyelitis
Respiratory failure requiring assisted ventilation, Anorexia, Respiratory failure, Agitation, Dys... ORPHA:2912
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Chronic Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529799
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency, Dysphagia OMIM:617527
Severe Congenital Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171430
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Dysphagia ORPHA:26791
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis ORPHA:268943
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Arima Syndrome
Dyspnea, Polydipsia, Tachypnea OMIM:243910
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Apnea, Respiratory insufficiency ORPHA:521426
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness ORPHA:544503
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Necrotizing Enterocolitis
Apnea ORPHA:391673
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Toxin-Mediated Infectious Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Dysphagia ORPHA:230800
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Apnea OMIM:609069
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, P... OMIM:601559
Moebius Syndrome
Respiratory distress, Dysphagia OMIM:157900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Scorpion Envenomation
Restlessness, Erythema, Tachypnea, Abnormal nasal mucus secretion, Purpura ORPHA:466677
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Bruxism, Aggressive behavior, Hyperventilation OMIM:617799
Tricuspid Atresia
Cyanosis ORPHA:1209
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Dysphagia, Urticaria, Cough, Acroc... ORPHA:183
Myasthenia Gravis
Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Exercise-Induced Malignant Hyperthermia
Flushing, Tachypnea, Crackles, Hypocapnia ORPHA:466650
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... ORPHA:258
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Dys... ORPHA:496641
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Genitopatellar Syndrome
Apnea ORPHA:85201
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Attention deficit hyperactivity disorder OMIM:619383
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:98793
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Buerger Disease
Acrocyanosis ORPHA:36258
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Telangi... ORPHA:420741
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:177904
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:177901
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Marshall-Smith Syndrome
Apnea, Stridor, Death in childhood, Aspiration pneumonia, Cervical cord compression, Pulmonary ar... OMIM:602535
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Bilateral Perisylvian Polymicrogyria
Aspiration, Pseudobulbar paralysis, Apnea, Dysphagia ORPHA:98889
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect OMIM:183900
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Repetitive compulsive behavior, Self-biting, Abnormal repetitive mannerisms, Self-... ORPHA:522077
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... OMIM:187300
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Cardiores... ORPHA:3342
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Anorexia, Paucity of an... ORPHA:79139
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior ORPHA:17
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... ORPHA:363705
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Wolfram Syndrome
Central apnea, Polydipsia, Respiratory insufficiency ORPHA:3463
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest OMIM:619879
Toxic Epidermal Necrolysis
Respiratory distress, Cough, Erythema, Restrictive ventilatory defect, Dysphagia, Polydipsia ORPHA:537
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Hypoxemia, Respiratory ... ORPHA:2020
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy... ORPHA:340
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Respiratory insufficiency, Attention deficit hyperactivity disorder, Pul... ORPHA:800
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Spinal dysraphism, Stri... OMIM:114290
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Ecchymosis, Purpura ORPHA:319213
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Tachypnea, Dysphagia OMIM:220111
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Spina bifida occulta, Apnea OMIM:300373
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... ORPHA:293987
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Ogden Syndrome
Apnea, Prematurely aged appearance, Facial wrinkling, Jaundice, Pulmonary arterial hypertension, ... OMIM:300855
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Dysphagia ORPHA:506
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice OMIM:617156
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Death in childhood OMIM:617303
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction OMIM:100800
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Q Fever
Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura ORPHA:781
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia OMIM:607143
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Purpura ORPHA:2330
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bruising susceptibility, Apnea, Chronic rhinitis ORPHA:667
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Adnp Syndrome
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive behaviors, Abnor... ORPHA:404448
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Dysphagia... ORPHA:3260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura OMIM:225750
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Atrophy of the spinal cord, Jaundice, Pulmonary arteria... ORPHA:79282
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Farber Disease
Respiratory distress, Respiratory insufficiency ORPHA:333
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion ORPHA:1546
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention def... ORPHA:177907
Pitt-Hopkins Syndrome
Aggressive behavior, Self-injurious behavior, Acrocyanosis, Abnormal pattern of respiration, Hype... ORPHA:2896
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Ramos-Arroyo Syndrome
Respiratory distress, Self-mutilation ORPHA:1051
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia, Cutaneous photosensitivity, Attention deficit hyperacti... ORPHA:647
Niemann-Pick Disease Type C
Aggressive behavior, Jaundice, Respiratory insufficiency, Dysphagia, Respiratory failure, Disinhi... ORPHA:646
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Isolated Arrhinia
Respiratory distress ORPHA:1134
Mgat2-Cdg
Respiratory distress, Stereotypical hand wringing ORPHA:79329
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... ORPHA:536467
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... ORPHA:93924
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Impulsivity, Asthma, E... OMIM:619503
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Dysphagia, Stereotypical h... ORPHA:438213
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Po... ORPHA:731
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin OMIM:614748
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow res... OMIM:615273
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction ORPHA:505248
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv... ORPHA:466943
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion OMIM:620369
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia ORPHA:37042
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Syringomyelia OMIM:119600
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Fraser Syndrome 2
Respiratory failure OMIM:617666
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Oral-pharyngeal dysphagia, Respiratory insuff... ORPHA:273
Leptospirosis
Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion ORPHA:509
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Abetalipoproteinemia
Respiratory failure ORPHA:14
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Spinal dysraphism, Restrictive ventilatory defect, Respiratory failure, Pulmonary ar... ORPHA:96334
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Dysphagia, Abnormal repetitive mannerisms, R... OMIM:616268
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency, Spina bifida OMIM:304120
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Gitelman Syndrome
Respiratory distress, Polydipsia, Salt craving ORPHA:358
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hyperactivity, Impulsivity, Spina bifida, Spina bifida occulta, Self-mutila... OMIM:180849
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hyperactivity, Tics, Dysphagia, Spina bifida occulta ORPHA:508488
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Dysphagia ORPHA:798
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Dysphagia ORPHA:500150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Plague
Respiratory distress, Acute infectious pneumonia, Anorexia ORPHA:707
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Doors Syndrome
Respiratory distress, Spina bifida occulta, Aspiration pneumonia ORPHA:79500
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Pallister-Killian Syndrome
Apneic episodes in infancy, Stillbirth, Tethered cord, Hyperventilation OMIM:601803
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress ORPHA:480880
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ... ORPHA:64
Pmm2-Cdg
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Aspiration pneumonia ORPHA:79318

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 Tlx3

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 Tlx3.

No publications found that use IMPC mice or data for Tlx3.

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MGI Allele Allele Type Produced
Tlx3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tlx3tm461443(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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