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Gene: Slc5a3 MGI:1858226

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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:
solute carrier family 5 (inositol transporters), member 3
Synonyms:
Smit1

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 Slc5a3 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 Slc5a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Cyanosis, Apnea OMIM:607745
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Cyanosis, Apnea OMIM:601764
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... OMIM:605253
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea, Focal EEG discharges with secondary generalization, Increased theta f... ORPHA:1949
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Hypsarrhythmia OMIM:616341
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Respiratory insufficiency ORPHA:640
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... OMIM:611228
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme... OMIM:601098
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Apnea, Multifocal epileptiform discharges, Respiratory insufficiency ORPHA:209370
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... OMIM:608323
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Polyhydramnios ORPHA:166063
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium,... ORPHA:2414
Benign Familial Infantile Epilepsy
Normal interictal EEG, Cyanosis, Apnea, Interictal epileptiform activity ORPHA:306
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Congenital Myopathy 14
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir... OMIM:618414
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea ORPHA:140927
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Apnea, Central hypoventilation, Nonimmune hydrops fetalis, Neonatal death OMIM:620167
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:607706
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... ORPHA:2902
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Glycine Encephalopathy 2
EEG with burst suppression, Respiratory failure OMIM:620398
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn... ORPHA:314655
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Haddad Syndrome
Death in infancy, Central hypoventilation, Polyhydramnios, Breathing dysregulation, Oligohydramnios ORPHA:99803
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia OMIM:619057
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Succinic Acidemia
Respiratory distress OMIM:600335
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Perry Syndrome
Central hypoventilation ORPHA:178509
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, EEG abnormality, Cyanosis ORPHA:71277
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory failure, Cheyne-Stokes respiration, Respiratory insuffici... OMIM:618328
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes DECIPHER:29
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Respiratory insufficiency d... OMIM:611890
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Apnea, Respiratory insufficiency OMIM:617290
Mogs-Cdg
Respiratory distress, Hypoventilation, Generalized edema, Absent brainstem auditory responses, Ap... ORPHA:79330
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Bilateral facial palsy, Exertional dyspnea ORPHA:254361
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Polyhydramnios OMIM:300580
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal peripheral action p... ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Kcnq2-Related Epileptic Encephalopathy
Apnea, EEG with burst suppression, Hypsarrhythmia, Facial erythema, Cerebral edema ORPHA:439218
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
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
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Multifocal epileptiform discharges, Hypsarrhythmia, EEG with general... ORPHA:79097
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, EEG with burst suppression, Generalized edema OMIM:606056
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy, Polyhydramnios OMIM:619967
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Ganglioneuroma
Central hypoventilation ORPHA:251992
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... OMIM:218000
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Death in infancy OMIM:620275
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Decreased size of nerve terminals, Res... ORPHA:98913
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Apneic episodes in infancy, Hypsarrhythmia OMIM:301058
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal motor evoked potentials ORPHA:99939
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... ORPHA:324604
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Tachypn... OMIM:604320
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Restrictive ventilatory defect, Peripheral axonal neur... ORPHA:101077
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with focal epileptiform discharges, Hypoventilation, Recurrent pneumonia, EEG with abnormally... OMIM:618493
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:99948
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Congenital Myopathy 3 With Rigid Spine
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation OMIM:607155
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Solar Urticaria
Edema, Periorbital edema, Dyspnea, Angioedema, Wheezing, Urticaria, Dermatographic urticaria ORPHA:97230
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Motor axonal neuropathy OMIM:620068
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Joubert Syndrome 33
Apnea OMIM:617767
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Erythema, Apnea OMIM:610015
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
EEG abnormality, Cyanosis, Apnea OMIM:261680
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation OMIM:615284
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Typical Nemaline Myopathy
Nocturnal hypoventilation, Respiratory insufficiency, Polyhydramnios ORPHA:171436
Acute Lung Injury
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nerve conduction veloc... OMIM:618356
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... ORPHA:101097
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased compound muscle action ... OMIM:301830
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Exertional dyspnea, ... ORPHA:199241
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Ullrich Congenital Muscular Dystrophy 1
Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Respiratory insuffic... OMIM:254090
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... ORPHA:98755
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity OMIM:618404
Pontocerebellar Hypoplasia Type 1
Peripheral axonal neuropathy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anteri... ORPHA:2254
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Peripheral axonal neuropathy, Axonal loss, Respiratory failure, Pu... OMIM:616867
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Facial palsy, Respiratory insufficiency ORPHA:370968
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Intermediate Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171433
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... ORPHA:79127
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... OMIM:614436
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus... ORPHA:2590
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Retinal telangiectasia OMIM:620155
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, EEG with burst suppression, Apnea OMIM:614498
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pleural effusion, Ol... ORPHA:60041
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:101081
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Respiratory insufficiency, Hypsarrhythmia OMIM:608093
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Polyhydramnios OMIM:256030
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Developmental And Epileptic Encephalopathy 99
Central apnea, Multifocal epileptiform discharges OMIM:619606
Cap Myopathy
Central hypoventilation ORPHA:171881
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... OMIM:618186
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Axonal loss, Decreased amplitude of sensory action potentials ORPHA:85446
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Hypsarrhythmia OMIM:600721
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Dyspnea, Peripheral axonal neuropathy ORPHA:435387
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Death in infancy, EEG with burst suppression, Respiratory in... OMIM:615368
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Malaria
Respiratory distress ORPHA:673
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramnios ORPHA:596
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Oligohydramnios OMIM:618253
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Peripheral demyelination OMIM:245200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Hyperekplexia 4
Respiratory failure, Hypsarrhythmia OMIM:618011
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Atypical Rett Syndrome
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Slc35A1-Cdg
Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Hyperglycinemia, Lactic Acidosis, And Seizures
Respiratory insufficiency, Apnea, Cerebral edema OMIM:614462
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Leigh Syndrome
Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Prader-Willi Syndrome
Hypoventilation, Cutaneous photosensitivity, Polyhydramnios, Oligohydramnios OMIM:176270
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:607250
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pericardial effusion, EEG with burst suppression, Anasarca... OMIM:261740
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Peripheral demyelination ORPHA:71211
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Rett Syndrome
EEG abnormality, Apnea, Intermittent hyperventilation OMIM:312750
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Illum Syndrome
Apnea OMIM:208155
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Hypoventilation, Respiratory insufficiency ORPHA:99949
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Abnormality of peripheral nerve conduction ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea, Polyhydramnios OMIM:241500
Breath-Holding Spells
Cyanosis OMIM:607578
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, EEG with focal spikes, Interictal epileptiform activit... ORPHA:98784
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary in... ORPHA:538
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent ... ORPHA:98914
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss OMIM:118300
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Jaundice, Anasarca, Tracheomalacia, Ascites OMIM:203700
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios OMIM:616733
Propionic Acidemia
Tachypnea, Apnea, Dehydration OMIM:606054
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Neonatal death, Ascites, ... OMIM:608013
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination OMIM:618279
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... OMIM:606071
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Facial palsy OMIM:606612
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis, Pedal edema ORPHA:439
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Polyhydramnios OMIM:612949
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Interictal EEG abnormality, Edema of the dorsum of feet, Edema of the dorsu... ORPHA:544503
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, EEG with generalized slow activity OMIM:300055
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Bruising susceptibility, Bronchiectasis OMIM:620080
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... OMIM:162400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Optic atrophy, Apneic episodes in infancy, Diffuse axonal swelling,... ORPHA:35069
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De... OMIM:619026
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Polyhydramnios OMIM:617180
48,Xxyy Syndrome
Asthma, Apnea ORPHA:10
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:99950
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:619851
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Re... ORPHA:1187
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Aspiration, Abnormal lower motor neuron morphology, Respirat... OMIM:606070
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Pulmonary hypoplasia, Facial palsy ORPHA:171430
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Polyhydramnios OMIM:618291
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Palpebral edema, Apnea, Death in childhood OMIM:214110
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy, Respiratory failure OMIM:616505
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Edema, Jaundice, Tachypnea, Dehydration, Hypsarrhythmia, EEG abnormality ORPHA:20
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia, Reduced vital capacity ORPHA:329478
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Decreased compound muscle... OMIM:602433
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Multifocal epileptiform discharges, EEG with abnormally slow frequencies ORPHA:70472
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, As... ORPHA:731
Microlissencephaly-Micromelia Syndrome
Respiratory distress, EEG abnormality, Palpebral edema, Polyhydramnios ORPHA:50810
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy OMIM:612674
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:302800
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Facial palsy, Abnormal respiratory system physiology... ORPHA:98905
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Cough, Abnormality of the autonomic nervous system, Motor axonal neuropathy, ... ORPHA:36386
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Respiratory insufficiency, Ascit... ORPHA:367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Respiratory failure OMIM:613954
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Jaundice, Abnormal respi... ORPHA:90051
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough ORPHA:2314
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity ORPHA:319514
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration ORPHA:79312
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Pericardial effusion, Tachypnea, Hy... ORPHA:555874
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Necrotizing Enterocolitis
Ascites, Apnea, Edema ORPHA:391673
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, P... OMIM:604168
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, EEG abnormality, Telangiectasia OMIM:608799
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Chronic Bilirubin Encephalopathy
Central apnea, Abnormal auditory evoked potentials, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Abnormal auditory evoked potentials, Prolonged neonatal jaundice ORPHA:529799
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Interictal epileptiform activity OMIM:620166
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Sensory axonal neuropathy OMIM:608804
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Peripheral hypomyelination, Aspiration... OMIM:618733
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality, Vascular skin abnormality ORPHA:812
Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis ORPHA:93474
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude OMIM:606353
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Fatal Familial Insomnia
Apnea OMIM:600072
Plaa-Associated Neurodevelopmental Disorder
Edema of the dorsum of feet, Apnea, Edema of the dorsum of hands, Respiratory insufficiency, Hyps... ORPHA:521426
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Abnormal cranial nerve morphology, Acute infecti... ORPHA:73263
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Dehydration, EEG abnormality, Aspiration, Flushing ORPHA:2131
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Hermansky-Pudlak Syndrome 10
EEG abnormality, Apnea OMIM:617050
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Gaucher Disease, Type Ii
Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia OMIM:230900
Stt3B-Cdg
Respiratory distress ORPHA:370924
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Dravet Syndrome
Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, EEG with focal ... ORPHA:33069
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Aspiration, Respiratory insufficiency due to muscle weakness ORPHA:600
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration OMIM:614653
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios OMIM:160900
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Cyanotic episode, EEG with focal sharp waves ORPHA:284417
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostomia, Death in infancy ORPHA:178481
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Cholera
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... ORPHA:365
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Periphe... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... OMIM:613177
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Hyperventilation OMIM:610042
Joubert Syndrome 8
Prolonged neonatal jaundice, Hyperventilation OMIM:612291
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Cutaneous photosensitivity, Optic atrophy, Progeroid facial ... OMIM:610651
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Polyhydramnios OMIM:202650
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dehydration OMIM:212140
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Dyspnea, Wheezi... ORPHA:141127
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Metatropic Dysplasia
Peripheral axonal neuropathy, Respiratory failure, Respiratory insufficiency OMIM:156530
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation, EEG with generalized polyspikes, EEG with generalized epileptiform... ORPHA:163681
Buerger Disease
Acrocyanosis ORPHA:36258
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... ORPHA:88628
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Hyperventilation ORPHA:64280
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased amplitude of s... OMIM:256840
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Optic disc pallor, EEG abnormality, Hypsarrhythmia ORPHA:565624
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Joubert Syndrome 17
Hyperventilation OMIM:614615
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, EEG with burst suppression, Polyhydramnios ORPHA:329178
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Nocturnal hypoventilation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Nocturnal hypoventilation ORPHA:352665
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Cyanosis, Apnea, Epistaxis ORPHA:268943
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Axonal loss, Decreased distal sensory nerve action potential, Abnormal autonomic nervous system p... OMIM:614575
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, D... ORPHA:363705
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Cerebral edema OMIM:252010
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Optic Atrophy 11
Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sen... OMIM:617302
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Respiratory insufficiency, Apnea, Edema OMIM:617527
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency OMIM:269860
Goodpasture Syndrome
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO... OMIM:233450
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Pleur... ORPHA:292
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Pedal ede... ORPHA:980
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility ORPHA:3226
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Premature sk... OMIM:601559
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral ede... ORPHA:31826
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610532
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Hypsarrhythmia, Hyperventilation OMIM:300672
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased sensory nerve ... ORPHA:298
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Optic atrophy, Respirato... ORPHA:496641
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Apnea OMIM:609069
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Alg1-Cdg
Respiratory failure ORPHA:79327
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, EEG ... ORPHA:522077
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration OMIM:251000
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... ORPHA:420741
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Pericardial effusion, Jaundice, Tachypnea ORPHA:26793
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Hurler Syndrome
Abnormal nerve conduction velocity, Death in infancy, Rhinitis, Recurrent respiratory infections ORPHA:93473
Sandestig-Stefanova Syndrome
EEG abnormality, Respiratory failure OMIM:618804
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... ORPHA:101085
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Meckel Syndrome 14
Cyanosis, Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Oligohydramnios OMIM:619879
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Polyhydramnios OMIM:151210
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Esophageal Atresia
Respiratory distress, Cyanosis, Polyhydramnios, Episodic respiratory distress, Chronic pulmonary ... ORPHA:1199
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Jaundice, Ascites OMIM:617156
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... OMIM:164400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:270550
Joubert Syndrome 21
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Pulmonary hypoplasia, Chronic ... OMIM:615636
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor nerve con... ORPHA:2912
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Asth... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Tracheomalacia, O... OMIM:608022
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Stillbirth OMIM:259720
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Poems Syndrome
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Acrocyanosis, Rest... ORPHA:2905
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Japanese Encephalitis
Respiratory distress, Irregular respiration, Decreased motor nerve conduction velocity, EEG with ... ORPHA:79139
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Recurrent ... OMIM:223900
Glass Syndrome
Apnea OMIM:612313
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hyperventilation OMIM:618775
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Facial palsy, Hypoxemia, EEG abnormality, Decreased se... ORPHA:456312
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:616192
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Genitopatellar Syndrome
Apnea ORPHA:85201
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Cerebrotendinous Xanthomatosis
Optic disc pallor, Prematurely aged appearance, Abnormal auditory evoked potentials, Optic neurop... ORPHA:909
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Recurrent pneumonia, Edema OMIM:607143
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Pedal edema, Cough, Pulmonary arterial hyp... ORPHA:228116
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy ORPHA:320375
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity OMIM:616652
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Moebius Syndrome
Respiratory distress OMIM:157900
Relapsing Polychondritis
Dyspnea, Atelectasis, Erythema, Cough, Abnormal pattern of respiration, Purpura ORPHA:728
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Spontaneous, recurrent epistaxis, Jaundice, Bruising suscept... OMIM:214500
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Atelectasis, Asthma, Chronic pulmonary obstruction, Optic atrophy, Abnorma... ORPHA:567
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Progeroid facial appearance, Optic atrophy, Cutaneous photos... ORPHA:90321
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Death in infancy, Neonatal respiratory distress, Polyhydramnios, Interictal epileptiform activity... OMIM:618922
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616271
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Marshall-Smith Syndrome
Apnea, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arterial hypertension, Recurr... OMIM:602535
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Polyhydramnios OMIM:100800
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Exertional dyspnea ORPHA:2299
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Ogden Syndrome
Apnea, Prematurely aged appearance, Facial wrinkling, Lymphedema, Jaundice, Oligohydramnios, Pulm... OMIM:300855
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Mosaic Variegated Aneuploidy Syndrome
Increased nuchal translucency, Ascites, Apnea, Polyhydramnios ORPHA:1052
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency, Pulmonary arterial hypertension ORPHA:800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea, Polyhydramnios, Oligohydramnios OMIM:300373
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Leigh Syndrome
Optic atrophy, Hypsarrhythmia, Respiratory failure, Sensory axonal neuropathy, Abnormal pattern o... ORPHA:506
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling OMIM:612852
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Abnormal peripheral myelination... OMIM:133540
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Abnormal pleura morphology, Optic atro... ORPHA:1764
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, EEG a... ORPHA:534
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Optic atrophy, Cough, Pulmonary edema ORPHA:137675
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Edema, Tachypnea, Ecchymosis ORPHA:36234
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Cough ORPHA:90658
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Decreased nerve conduction velocity, Jaundice, Pleur... ORPHA:167
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Developmental And Epileptic Encephalopathy 38
Aspiration, Hypsarrhythmia OMIM:617020
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Oligohydramnios ORPHA:3206
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... ORPHA:3342
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Stridor, Tracheomalac... OMIM:114290
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Abnormal peripheral myelination... OMIM:216400
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Cerebral edema ORPHA:1546
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Death in childhood OMIM:617303
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Pedal edema, H... ORPHA:97214
Slc39A8-Cdg
Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Decreased distal sensory nerve action potential, Optic atrophy, Respirato... ORPHA:99956
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites OMIM:620369
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Generalized edema OMIM:617478
Q Fever
Respiratory distress, Pneumonia, Pericardial effusion, Cough, Pleural effusion, Purpura ORPHA:781
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest, Dehydration ORPHA:31824
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Mgat2-Cdg
Respiratory distress, Hydrops fetalis, Hypsarrhythmia ORPHA:79329
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... ORPHA:125
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Pedal edema ORPHA:98754
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy ORPHA:95
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bruising susceptibility, Apnea, Chronic rhinitis ORPHA:667
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Pedal edema ORPHA:98793
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Purpura ORPHA:2330
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... ORPHA:3260
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Pedal edema ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Pedal edema ORPHA:177901
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Hypsarrhythmia, Death in infancy OMIM:610768
Leprosy
Epistaxis, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi... ORPHA:548
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy OMIM:259900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Hydrops fetalis, Dehydration, Pulmonary arter... ORPHA:79282
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Fetal ascites, Asthma,... OMIM:619503
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Conjunctival telangiecta... OMIM:606002
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Ascites, Prolonged neonatal jaundice OMIM:256810
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydration, Stridor, Respiratory ... ORPHA:79404
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Mucopolysaccharidosis Type 2
Papilledema, Decreased nerve conduction velocity, Recurrent upper respiratory tract infections, O... ORPHA:580
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Respiratory failur... ORPHA:805
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough ORPHA:537
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity OMIM:261515
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Acute Liver Failure
Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p... ORPHA:90062
Wolfram Syndrome
Central apnea, Respiratory insufficiency ORPHA:3463
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Wilson Disease
Decreased nerve conduction velocity, Jaundice OMIM:277900
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia ORPHA:1051
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Apnea ORPHA:285
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Premature graying of hair, Cutaneous photosensit... ORPHA:90324
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation OMIM:618050
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Polyhydramnios OMIM:306955
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Optic disc pallor, Peripheral axonal neuropathy, Decreased n... ORPHA:191
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia ORPHA:37042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Chand Syndrome
Atelectasis ORPHA:1401
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir... ORPHA:647
Primary Hyperoxaluria
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata ORPHA:416
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction ORPHA:505248
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
Tay-Sachs Disease
Aspiration OMIM:272800
Isolated Arrhinia
Respiratory distress ORPHA:1134
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Abnormality of peripheral nerve conduction ORPHA:79102
Costello Syndrome
Pneumothorax, Respiratory insufficiency, Vestibular schwannoma, Respiratory failure, Tracheomalacia OMIM:218040
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Oligohydramnios ORPHA:177907
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... ORPHA:48435
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Hypsarrhythmia ORPHA:2148
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Digeorge Syndrome
Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis OMIM:188400
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Respiratory ins... ORPHA:273
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure, Hypsarrhythmia OMIM:300868
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Pul... ORPHA:51608
Niemann-Pick Disease Type C
Jaundice, Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... ORPHA:646
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin OMIM:614748
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Adnp Syndrome
Respiratory distress, Aspiration ORPHA:404448
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased sensory nerve conduction velocity OMIM:615273
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Optic nerve hypoplasia, Optic atrophy, Respiratory failure, Emphysema ORPHA:500150
Abetalipoproteinemia
Respiratory failure ORPHA:14
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... ORPHA:642
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory failure, Pulm... ORPHA:96334
Leptospirosis
Respiratory distress, Pleural effusion, Jaundice, Cough ORPHA:509
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... ORPHA:95455
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Recurrent aspiration pneumonia, Upper eyelid... OMIM:616268
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios OMIM:617088
Cardiac Valvular Dysplasia 1
Cyanosis, Hydrops fetalis, Edema OMIM:212093
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Rubinstein-Taybi Syndrome 1
Respiratory distress, EEG abnormality, Polyhydramnios OMIM:180849
Fraser Syndrome 2
Respiratory failure OMIM:617666
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Hypsarrhythmia ORPHA:798
Gitelman Syndrome
Pericardial effusion, Respiratory distress ORPHA:358
Doors Syndrome
Respiratory distress, EEG abnormality, Polyhydramnios, Aspiration pneumonia ORPHA:79500
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Oligohydramnios ORPHA:2255
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Oligohydramnios ORPHA:3404
Plague
Respiratory distress, Acute infectious pneumonia, Edema ORPHA:707
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
8Q24.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:508488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Apneic episodes in infancy, Stillbirth, Hyperventila... OMIM:601803
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Abnormal au... ORPHA:2388
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress ORPHA:480880
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Pmm2-Cdg
Respiratory distress, Lymphedema, Pericardial effusion, Abnormal subcutaneous fat tissue distribu... ORPHA:79318
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ... ORPHA:64

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 Slc5a3

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 Slc5a3.

No publications found that use IMPC mice or data for Slc5a3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc5a3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc5a3tm237795(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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