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Gene: Atoh1 MGI:104654

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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:
atonal bHLH transcription factor 1
Synonyms:
Math1,  bHLHa14,  Hath1

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 Atoh1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Atoh1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284

The table below shows human diseases predicted to be associated to Atoh1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia, Tremor, Hearing impairment ORPHA:217012
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Respiratory insufficiency, Respiratory failure, Death in childhood,... OMIM:616081
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Apnea OMIM:610992
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Respir... OMIM:225753
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Dysdiadochokinesis, Gait disturbance, Falls, Truncal at... ORPHA:363710
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Death in infancy, Hypopla... OMIM:619303
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, ... OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Apnea, Respiratory insufficiency, Respiratory failure, Low-set ears, Neonatal... OMIM:610127
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur... OMIM:610185
Joubert Syndrome 23
Sensorineural hearing impairment, Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, L... OMIM:614860
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
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
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Vertigo... ORPHA:101110
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... ORPHA:52368
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Opti... OMIM:617954
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Gait... OMIM:617145
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Aplasia/Hypoplasia of the external ear,... ORPHA:168486
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Action tremor, Head tremor, Froment sign, Cerebellar... OMIM:620158
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, EEG with photoparoxysmal respon... OMIM:616230
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Spinocerebellar Ataxia 13
Cerebellar atrophy, Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb ... OMIM:605259
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pontocerebellar Hypoplasia Type 1
Hypoplasia of the pons, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior hor... ORPHA:2254
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Facial palsy, Respiratory insufficiency, Abnormal pons morphology, ... ORPHA:370968
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Vertigo, Limb ataxia, Gait ataxia OMIM:620174
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Cerebellar hypoplasia OMIM:615228
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tinnitus OMIM:617691
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears ORPHA:1832
Joubert Syndrome 30
Cerebellar atrophy, Apnea, Tachypnea, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... OMIM:207950
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... OMIM:611890
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Exertional dyspnea ORPHA:621
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor, Hearing impairment ORPHA:98771
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Vertigo, Dystonia, Tinnitus, Cerebellar vermis atrophy ORPHA:97
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia, Hearing impairment ORPHA:438134
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Ataxia, Action tremor, Abnormal cerebellum morphology, Unste... ORPHA:98762
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia, Hearing ... OMIM:619057
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autonomic nervou... OMIM:610743
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough ORPHA:330012
3-Methylglutaconic Aciduria, Type Iv
Neonatal respiratory distress, Cerebellar dysplasia OMIM:250951
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Hearing impairment OMIM:616277
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxi... OMIM:613612
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Respiratory insufficiency, Facial ... OMIM:618186
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Facial palsy, Restrictive ventilatory defect, Respiratory failure, Cerebellar... OMIM:606612
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia, Hearing impairment OMIM:618247
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Respirat... ORPHA:2590
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Tachypnea, Respiratory failure, Death in childhood OMIM:615838
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Episodic t... ORPHA:163961
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Dysmetria, Gait ataxia, Aplasia/Hypoplasia of the cerebellum, Intention tremor, Abnormal ... ORPHA:99027
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:612674
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Respiratory f... ORPHA:98755
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Huppke-Brendel Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Hearing impairment OMIM:614482
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Respiratory failure, Communicating hydrocephalus ORPHA:1861
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Respiratory insufficiency... OMIM:618291
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Gait ataxia, Bilateral sensorin... ORPHA:445062
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Hypoplasia of the pons, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked... OMIM:617523
Spinocerebellar Ataxia 6
Cerebellar atrophy, Ataxia, Vertigo, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia, Lo... OMIM:183086
Alg1-Cdg
Cerebellar atrophy, Respiratory failure ORPHA:79327
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir... ORPHA:98913
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Sensorineural hearing impairment, ... OMIM:616192
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Cerebellar gliosis, Optic atrophy, Respiratory failure OMIM:616505
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Gait ataxia, Spinocerebellar atrophy, Progressive cerebellar ataxia, Head tremor, ... ORPHA:95433
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Breath-Holding Spells
Cyanosis OMIM:607578
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Respiratory failure, Cerebellar hypoplasia, Inferior cerebellar vermis hypopl... OMIM:620327
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Intermediate Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy, Low-set ears ORPHA:171433
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Death i... OMIM:618426
Hyperekplexia 4
Respiratory failure OMIM:618011
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in child... OMIM:617186
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Abnormal auditory evoked potentials OMIM:109120
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior horn cells, Respiratory ... OMIM:604320
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocular reflex OMIM:193003
Tetrasomy 5P
Respiratory distress, Cyanosis, Posteriorly rotated ears, Hydrocephalus, Cerebellar hypoplasia, L... ORPHA:3309
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia ORPHA:464453
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp... ORPHA:206448
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Dyspnea, Abnormal antitragus morphology, Respirat... ORPHA:2759
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Hydrocephalus, Wheezing, Bronchiectasis, Airway ... ORPHA:244
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla... OMIM:616482
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Leigh Syndrome
Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Respiratory failure, ... OMIM:256000
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis... OMIM:618249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebellar vermis hypoplasia, Respiratory failure, Cerebellar cyst OMIM:616538
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Joubert Syndrome 3
Central apnea, Cerebellar vermis hypoplasia, Episodic tachypnea, Low-set ears, Elongated superior... OMIM:608629
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, R... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Acrocyanosis, Macrotia, Cerebellar hypoplasia OMIM:614407
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Joubert Syndrome 7
Encephalocele, Central apnea, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Cyanotic episode ORPHA:284417
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megac... ORPHA:2318
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Hearing im... OMIM:614922
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis, Apnea, Hearing impairment OMIM:619580
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... ORPHA:803
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Cerebellar hypoplasia ORPHA:280210
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Sensorineural hearing impairment, Optic a... OMIM:615636
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Episodic tachypnea, Hy... ORPHA:475
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Low-set ears ORPHA:1194
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Sensorineural hearing impairment, Stridor, Respi... OMIM:606071
Deafness-Lymphedema-Leukemia Syndrome
Vertigo, Sensorineural hearing impairment, Respiratory failure, Chronic otitis media, Bruising su... ORPHA:3226
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Progressive hearing impairment OMIM:620166
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly, Low... OMIM:619879
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Tricuspid Atresia
Cyanosis ORPHA:1209
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Respiratory failure, Pneumothorax ORPHA:445038
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea OMIM:612285
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal cerebellar peduncle morphology, A... ORPHA:909
Buerger Disease
Acrocyanosis ORPHA:36258
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Senso... OMIM:252010
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Opti... ORPHA:496641
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment, Respiratory failure, Respiratory... OMIM:135100
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Spina bifida occulta, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... OMIM:220110
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Sandestig-Stefanova Syndrome
Angulated antihelix, Respiratory failure, Low-set ears, Underdeveloped tragus OMIM:618804
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia ORPHA:88618
Joubert Syndrome 2
Encephalocele, Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, Ep... OMIM:608091
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Respiratory insufficiency, Pulmonary arterial hypertension, Pontoc... ORPHA:258
Biotinidase Deficiency
Apnea, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Diffuse cerebellar atrophy OMIM:253260
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Low-set ears OMIM:617895
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Occipital encephalocele, Chronic lung disease, Cerebellar verm... ORPHA:397715
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Cerebellar malformation ORPHA:137675
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Sensorineural hearing impairment, Jaundice, Hypopnea, Respiratory failur... OMIM:617248
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... ORPHA:98905
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ... ORPHA:90321
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Respiratory ins... OMIM:608836
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy, Low-set ears ORPHA:171430
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Tachypnea, Microtia, Low-set ears, Death in childhood, Pulmonary arterial hyper... OMIM:613320
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Tarp Syndrome
Low-set, posteriorly rotated ears, Cyanosis, Apnea, Optic atrophy, Prominent antihelix, Abnormal ... ORPHA:2886
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy, Hearing impairment ORPHA:391428
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Aicardi-Goutieres Syndrome 1
Cerebellar calcifications, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Sensorineural hearing impairment, Respiratory failure, Death in childhood OMIM:619847
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Respiratory failure, Stillbirth OMIM:259720
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Leigh Syndrome
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Respiratory failure, Abnorma... ORPHA:506
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Joubert Syndrome 1
Central apnea, Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ep... OMIM:213300
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Cyanosis, Tachypnea ORPHA:3426
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Optic atrophy, Apnea, Low-set ears OMIM:617301
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Res... ORPHA:26791
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Hearing impairment ORPHA:896
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... OMIM:216400
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Lethal Acantholytic Erosive Disorder
Respiratory failure, Abnormal pinna morphology, Fragile skin, Abnormal helix morphology ORPHA:158687
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Macrotia, Cyanosis, Protruding ear ORPHA:3304
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion OMIM:261740
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Episodic tachypnea, Low-set ears ORPHA:2872
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Joubert Syndrome 5
Central apnea, Occipital encephalocele, Neonatal breathing dysregulation, Agenesis of cerebellar ... OMIM:610188
Costello Syndrome
Posteriorly rotated ears, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Chiari type I m... OMIM:218040
Cockayne Syndrome B
Abnormal pinna morphology, Cerebellar calcifications, Abnormal auditory evoked potentials, Ataxia... OMIM:133540
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Dravet Syndrome
Cyanotic episode ORPHA:33069
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Sensorineural hearing impairment, Re... ORPHA:209905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Death in infancy OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cerebellar ... OMIM:306955
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Malignant Atrophic Papulosis
Pleural effusion, Vertigo, Telangiectasia of the skin, Respiratory failure ORPHA:679
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Abnormality of the ear, Chronic pu... ORPHA:1199
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Abnormal pons morphology, Respiratory failure, Cerebellar hypoplasia, Overfolde... OMIM:300868
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Dyspnea, Wheezing, Abnormal earlobe morphology... ORPHA:141127
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor nerve con... ORPHA:2912
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Citrullinemia Type I
Tachypnea ORPHA:247525
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Dyspnea, T... OMIM:243910
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Tachypnea, Erythema, Livedo reticularis, Telangiectasia OMIM:615934
Rh Deficiency Syndrome
Hypoxemia, Jaundice, Tachypnea, Miscarriage ORPHA:71275
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Dyspnea, Respiratory fail... ORPHA:2554
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Sensorineural hearing impairment, Cyanosis ORPHA:488627
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea ORPHA:26793
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Otitis m... ORPHA:125
Mend Syndrome
Abnormal auditory evoked potentials, Hydrocephalus, Dandy-Walker malformation, Low-set ears ORPHA:401973
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Infantile sensorineural hearing impairment, Giant somatosensory evoke... ORPHA:268943
Myasthenia Gravis
Dyspnea, Acrocyanosis, Hearing impairment ORPHA:589
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Erythema, Abnormality of the ear, Abnormal earlobe ... ORPHA:2556
Niemann-Pick Disease Type C
Jaundice, Respiratory insufficiency, Respiratory failure, Aspiration pneumonia, Cerebellar vermis... ORPHA:646
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Hearing impairment ORPHA:533
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hearing impairment, Respiratory insufficiency due to muscle weak... ORPHA:365
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Low-set ears OMIM:617478
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Condu... ORPHA:2754
Kallmann Syndrome-Heart Disease Syndrome
Sensorineural hearing impairment, Cyanosis ORPHA:2326
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis OMIM:223900
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin, Noncommunicating hydr... ORPHA:805
Nijmegen Breakage Syndrome
Hearing abnormality, Macrotia, Recurrent pneumonia, Respiratory failure, Cutaneous photosensitivity ORPHA:647
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Hearing impairment ORPHA:349
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Fraser Syndrome 2
Respiratory failure, Atresia of the external auditory canal, Low-set ears OMIM:617666
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Pitt-Hopkins Syndrome
Aganglionic megacolon, Abnormal helix morphology, Thickened helices, Acrocyanosis, Abnormal patte... ORPHA:2896
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Sensorineural hearing impairment, Asthma, Car... ORPHA:293987
Otopalatodigital Syndrome, Type Ii
Posteriorly rotated ears, Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory fai... OMIM:304120
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Serotonin Syndrome
Abnormality of the autonomic nervous system, Tachypnea ORPHA:43116
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis ORPHA:36234
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Pyruvate Carboxylase Deficiency
Cerebellar gliosis, Tachypnea, Abnormal pattern of respiration ORPHA:3008
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea ORPHA:20
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Posteriorly rotated ears, Miscarriage, Spinal dysraphism, Restrictive ventilatory defect, Respira... ORPHA:96334
Myhre Syndrome
Respiratory insufficiency, Respiratory failure, Microtia, Low-set ears, Hearing impairment OMIM:139210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Optic atrophy, Protruding ear, Respiratory failure, Chiari malformation, ... ORPHA:500150
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Lo... ORPHA:731
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Tachypnea OMIM:615751
Beta-Ketothiolase Deficiency
Tachypnea, Cough ORPHA:134
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Prominent superficial blood vessels, Cyanosis, P... ORPHA:740
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Abetalipoproteinemia
Respiratory failure ORPHA:14
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Vertigo, Wheezing, Hypox... ORPHA:97214
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Familial Dysautonomia
Orthostatic hypotension, Acrocyanosis, Optic atrophy ORPHA:1764
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy OMIM:259900
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Posteriorly rotated ears, Dyspnea, Abnormal tragus morphology, Respiratory failure, Low-set ears ORPHA:2636
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... ORPHA:48435
Primary Hyperoxaluria
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata ORPHA:416
Ulbright-Hodes Syndrome
Respiratory distress, Abnormal pinna morphology, Pneumothorax, Respiratory failure, Low-set ears ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... ORPHA:51608
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Cerebellar vermis hypoplasia, Tachypnea, Low-set ears OMIM:220111
Exercise-Induced Malignant Hyperthermia
Crackles, Vertigo, Tachypnea, Hypocapnia, Flushing ORPHA:466650
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Low-set ears, Prolonged neonatal jaundice ORPHA:51
Scorpion Envenomation
Abnormal nasal mucus secretion, Erythema, Tachypnea, Purpura ORPHA:466677
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Tachypnea, Apnea, Protruding ear ORPHA:2751
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Vertigo, Acrocyanosis, Apnea ORPHA:285
Coffin-Lowry Syndrome
Cutis marmorata, Sensorineural hearing impairment, Protruding ear, Acrocyanosis, Hearing impairment OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694

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 Atoh1

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 Atoh1.

No publications found that use IMPC mice or data for Atoh1.

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
Atoh1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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