banner
Genes Phenotypes Help, News, Blog

Gene: Atoh1 MGI:104654

Log in to follow
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
Gait ataxia, Cerebellar atrophy, Hearing impairment, Tremor ORPHA:217012
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Vestibular hypofunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,... OMIM:616291
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Hypoplasia of the pons, Death in infancy, Cerebe... OMIM:225753
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Cerebellar vermis atrophy, Limb dysmetria, Tremor, Sensorineur... ORPHA:363710
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode, Apnea, Death in infancy OMIM:610992
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Death in infancy, Cerebellar hypoplasia, Respiratory ... OMIM:619303
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Ataxia, ... OMIM:618876
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ceroid Lipofuscinosis, Neuronal, 10
Low-set ears, Cerebellar atrophy, Respiratory insufficiency, Apnea, Neonatal death, Respiratory f... OMIM:610127
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Dysdiadochokinesis, Aplasia of the in... OMIM:610185
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Gait d... OMIM:614860
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Severe sensorineural hearing impairment, Hydrocephalus OMIM:604213
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Vertigo, Gait ataxia, Tremor ... ORPHA:101110
Joubert Syndrome 23
Cerebellar dysplasia, Tachypnea, Apnea, Sensorineural hearing impairment OMIM:616490
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Cerebellar atrophy, Hearing impairment, Inability to walk, Dysmetria, Atrophy/Dege... OMIM:617954
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Gait disturb... OMIM:617145
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Neonatal respiratory distress, Cerebellar atrophy, Aplasia/Hypoplasia of the extern... ORPHA:168486
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Epilepsy, Progressive Myoclonic, 8
Falls, Cerebellar atrophy, Limb ataxia, EEG with photoparoxysmal response, Gait disturbance, Atro... OMIM:616230
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Postural tremor,... OMIM:620158
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Torticollis, Intenti... ORPHA:276193
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Gai... OMIM:611390
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Ataxia ORPHA:99852
Spinocerebellar Ataxia 44
Cerebellar atrophy, Gait ataxia, Dysmetria, Tinnitus, Ataxia, Dysdiadochokinesis OMIM:617691
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Respiratory insufficiency, Cerebellar hypoplasia, Abnormal pons mor... ORPHA:370968
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure OMIM:263000
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure OMIM:276950
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Hearing impairment, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Familial Paroxysmal Ataxia
Vertigo, Cerebellar vermis atrophy, Tinnitus, Torticollis, Ataxia, Dystonia ORPHA:97
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy, Hearing impairment ORPHA:438134
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Hypoplasia of the pons, Aplasia/Hypoplasia of the cerebellum, Cerebellar cyst, Res... ORPHA:2254
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysme... ORPHA:98762
Immunodeficiency 95
Respiratory distress, Respiratory failure OMIM:619773
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Abnor... OMIM:610743
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Posteriorly rotated ears, Respiratory failure, Respiratory distress ORPHA:1832
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia, Neonatal respiratory distress OMIM:250951
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Respirator... OMIM:611890
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Abnormal motor nerve conduction velocity, Facial... OMIM:614399
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Atrophy/Degeneration affecting the brai... OMIM:613612
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Hearing impairment, Death in infancy OMIM:616277
Congenital Myopathy 14
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Cerebellar hypoplasia, Apnea, Neonatal death OMIM:615228
Joubert Syndrome 30
Cerebellar atrophy, Apnea, Tachypnea, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Decreased motor nerve conduction velocity, Cerebellar atrophy, Hearing impairment, ... OMIM:618186
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the pons, Optic ... OMIM:617523
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory distress, Infantile sensorineural hearing impairment, Resp... ORPHA:254875
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, EEG abnormality, Dystonia, Choreoathetosis OMIM:618247
Spinocerebellar Ataxia 29
Truncal titubation, Cerebellar vermis hypoplasia, Diffuse cerebellar atrophy, Broad-based gait, D... OMIM:117360
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Resp... OMIM:265120
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure, Hearing impairment OMIM:619057
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Death in childhood, Tachypnea, Optic disc pallor, Respiratory failure OMIM:615838
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Abnormal pinna morphology, Central apnea, Re... OMIM:618291
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Sensorineural ... OMIM:612674
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus OMIM:207950
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, S... OMIM:619260
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Respiratory failure, Abnormal seventh cranial phy... ORPHA:90117
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Action tremor, Sensorineural hearing impairment, Ataxia, EEG with ... ORPHA:99027
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Hearing abnormality, Gait ataxia, Dec... OMIM:614575
Spinocerebellar Ataxia 13
Optic atrophy, Cerebellar atrophy, Hearing impairment, Limb ataxia, Limb dysmetria, Gait ataxia, ... OMIM:605259
Huppke-Brendel Syndrome
Inability to walk, Cerebellar atrophy, Hearing impairment, Cerebral atrophy OMIM:614482
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal lower... ORPHA:2590
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Alg1-Cdg
Cerebellar atrophy, Respiratory failure ORPHA:79327
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Atrophy of the spinal cord, Atrophy/Degenerati... ORPHA:445062
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Head tremor, Gait a... ORPHA:95433
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest, Neonatal death OMIM:620203
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Cerebellar atrophy, Vertigo, Dysmetria, Loss of ambulation, Ataxia, Tr... OMIM:183086
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory failure, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar cyst, Facial palsy, Cerebellar atrophy, Respiratory failure OMIM:606612
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Gait ataxia, Sen... OMIM:616192
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory respo... ORPHA:3240
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Episodic tachypnea, Apneic episodes in infancy, Hydro... ORPHA:163961
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure ORPHA:1861
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal nerve conduction velocit... ORPHA:98755
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hearing impairment, Respiratory insufficiency, Death in childhood,... OMIM:245400
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c... ORPHA:206443
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Resp... OMIM:614299
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar gliosis, Cerebellar atrophy, Respiratory failure OMIM:616505
Breath-Holding Spells
Cyanosis OMIM:607578
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal medulla oblongata morphology... ORPHA:206448
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Cerebellar atrophy, Respiratory distress, Apnea, Death i... OMIM:618426
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairment OMIM:109120
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Ce... ORPHA:101085
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia ORPHA:91359
Primary Pulmonary Hypoplasia
Low-set ears, Neonatal respiratory distress, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Respiratory fai... OMIM:620327
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal ... OMIM:610921
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Axial dystonia, C... ORPHA:420492
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocular reflex OMIM:193003
Intermediate Nemaline Myopathy
Low-set ears, Facial palsy, Facial diplegia, Respiratory failure ORPHA:171433
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Hyperekplexia 4
Respiratory failure OMIM:618011
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hearing impairment, Recurrent otitis media, Respiratory distress, Neonatal death, Palmoplantar cu... OMIM:616482
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Exaggerated st... OMIM:616881
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Ventilator dependence with inability to wean, Res... OMIM:604320
High Altitude Pulmonary Edema
Vertigo, Tachypnea, Hypoxemia, Cyanosis ORPHA:330012
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure OMIM:619483
Tetrasomy 5P
Low-set ears, Respiratory distress, Cyanosis, Cerebellar hypoplasia, Hydrocephalus, Posteriorly r... ORPHA:3309
Acute Lung Injury
Respiratory distress, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Acrocyanosis, Prominent antihelix, Macrotia OMIM:614407
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Respiratory distress, Abnormal antitragus morphology, Overfolded helix, Posteriorly... ORPHA:2759
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Death in childhood, Cerebellar edema, Respiratory failure OMIM:617186
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Respiratory failure OMIM:618233
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Cyanotic episode ORPHA:284417
Leigh Syndrome, Nuclear
Optic atrophy, Respiratory failure, Respiratory insufficiency, Sensorineural hearing impairment OMIM:256000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure OMIM:312170
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Facial palsy, Respiratory failure ORPHA:98913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar cyst, Respiratory failure OMIM:616538
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Cerebellar atrophy, Respiratory insufficiency, Sensorineural hearing impairment, C... OMIM:618329
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Tachypnea OMIM:267450
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613954
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Jaundice... OMIM:615512
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Respiratory failure OMIM:250940
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation ORPHA:264675
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure OMIM:605711
Acquired Methemoglobinemia
Vertigo, Hypoxemia, Cyanosis, Respiratory distress ORPHA:464453
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Myelopathy, Resting tremor, Cerebellar atroph... ORPHA:909
Joubert Syndrome 3
Low-set ears, Cerebellar vermis hypoplasia, Episodic tachypnea, Elongated superior cerebellar ped... OMIM:608629
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Respiratory failure ORPHA:280210
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Cerebellar atrophy, Hearing impairment OMIM:619580
Combined Oxidative Phosphorylation Deficiency 11
Hearing impairment, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory... OMIM:614922
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Apnea, Encephalocele, Aganglioni... ORPHA:2318
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Neonatal re... OMIM:608647
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Apnea, Cerebellar atrophy, Episodic tachypnea ORPHA:79264
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Progressive hearing impairment OMIM:620166
Acute Interstitial Pneumonia
Cyanosis, Tachypnea, Hypoxemia, Respiratory failure ORPHA:79126
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Respiratory insufficiency, Apnea, Cyanosis, Death in infancy, Sensorineural h... OMIM:252010
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea, Encephalocele OMIM:611560
Avian Influenza
Respiratory distress, Tachypnea, Respiratory failure, Hypoxemia, Miscarriage ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia, Respiratory failure OMIM:610913
Tricuspid Atresia
Cyanosis ORPHA:1209
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Hypoxemia, Respiratory failure ORPHA:36238
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Congenital Myasthenic Syndrome
Low-set ears, Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis... ORPHA:98914
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Arthrogryposis, Distal, Type 2A
Spina bifida occulta, Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Respiratory failure requiring assisted venti... ORPHA:555874
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Vertigo, Sensorineural hearing impairment, Chronic otitis media, Respira... ORPHA:3226
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Conductive hearing impairment, Hearing impairment, Recurrent otiti... ORPHA:244
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Respiratory failure, Death in infancy ORPHA:1194
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure ORPHA:444013
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Respiratory failure ORPHA:445038
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Respiratory failure, Respiratory distress OMIM:617895
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Apnea, Megalopapilla, Encephalocele, Sensorineural hearin... OMIM:615636
S-Adenosylhomocysteine Hydrolase Deficiency
Cerebellar hypoplasia, Respiratory failure, Hypoplasia of the pons ORPHA:88618
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Respiratory failure, Macrotia, Respiratory failure requiring a... ORPHA:496641
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Cyanosis ORPHA:1302
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory distress, Death in childhood, Sensorineural hearing impairment, Respir... OMIM:220110
Meckel Syndrome 14
Low-set ears, Cardiorespiratory arrest, Occipital encephalocele, Cyanosis, Holoprosencephaly OMIM:619879
Joubert Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Episodic tachypnea, Apnea, Encephalocele, Aganglionic... ORPHA:475
Sandestig-Stefanova Syndrome
Low-set ears, Underdeveloped tragus, Respiratory failure, Angulated antihelix OMIM:618804
Joubert Syndrome 9
Episodic tachypnea, Apnea, Encephalocele OMIM:612285
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment ... OMIM:609136
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... ORPHA:90321
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Conductive hearing impairment, Respiratory failure, Sensorineural hear... OMIM:135100
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Sensorineural hearing impa... OMIM:617248
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure ORPHA:542323
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Joubert Syndrome 2
Low-set ears, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Episodic tachypnea, Encep... OMIM:608091
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Neonatal respiratory distress, Respiratory insufficiency, Apnea, Death in infancy, ... OMIM:608836
Biotinidase Deficiency
Diffuse cerebellar atrophy, Optic atrophy, Apnea, Sensorineural hearing impairment, Tachypnea OMIM:253260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Respiratory distress, Oxygen desaturation on exertion, Cholesteato... OMIM:610978
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy, Hearing impairment ORPHA:391428
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness... OMIM:606071
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Apnea, Respiratory failure OMIM:617301
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Optic atrophy, Respiratory failure ORPHA:2707
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Occipital enceph... ORPHA:397715
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency du... ORPHA:308552
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Prolonged neonatal jaundice, Cerebellar calcifications, Acrocyanosis, Purpura OMIM:225750
Histiocytoid Cardiomyopathy
Optic atrophy, Cerebellar malformation, Cyanosis, Tachypnea, Hydrocephalus ORPHA:137675
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Tarp Syndrome
Optic atrophy, Prominent antihelix, Hearing impairment, Low-set, posteriorly rotated ears, Apnea,... ORPHA:2886
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hydrocephalus, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure OMIM:259720
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Severe Congenital Nemaline Myopathy
Low-set ears, Facial palsy, Facial diplegia, Respiratory failure ORPHA:171430
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Congenital Heart Block
Cyanosis ORPHA:60041
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pontocerebellar atrophy, Intercostal muscle weakness, Facial palsy, Re... ORPHA:258
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood, Sensorineural hearing impairment OMIM:619847
Leigh Syndrome
Optic atrophy, Cerebellar atrophy, Olivopontocerebellar atrophy, Sensorineural hearing impairment... ORPHA:506
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Respiratory insufficiency ORPHA:60032
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Protruding ear, Cyanosis, Macrotia ORPHA:3304
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Death in childhood, Death in infancy, Tachypnea, Microtia OMIM:613320
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Abnormality of cartilage of external ear ORPHA:3426
Joubert Syndrome 1
Low-set ears, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Optic disc colob... OMIM:213300
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Respiratory insufficiency OMIM:617239
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... OMIM:133540
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Facial diplegia, Respiratory failure ORPHA:98905
Choanal Atresia
Respiratory distress, Cyanosis ORPHA:137914
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Mercury Poisoning
Respiratory distress, Respiratory failure ORPHA:330021
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Dravet Syndrome
Cyanotic episode ORPHA:33069
Lethal Acantholytic Erosive Disorder
Abnormal helix morphology, Respiratory failure, Fragile skin, Abnormal pinna morphology ORPHA:158687
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Death in childhood OMIM:620278
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Facial diplegia, Intercostal muscle weakness, Respiratory insuffic... ORPHA:70
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Cardiorespiratory arrest, Abnormal pinna morphology ORPHA:26791
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Death in infancy OMIM:201475
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Cardiocranial Syndrome, Pfeiffer Type
Low-set ears, Episodic tachypnea, Low-set, posteriorly rotated ears ORPHA:2872
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus OMIM:261740
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Tachypnea, Hypoxemia, Respi... ORPHA:60025
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Respiratory distress, Telangiectasia of the skin, Prematurely aged appe... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,... OMIM:610505
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis ORPHA:803
Atypical Rett Syndrome
Episodic tachypnea, Sudden episodic apnea, Abnormal autonomic nervous system physiology ORPHA:3095
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Tetanus
Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system physiology, Respirato... ORPHA:3299
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Myelomeningocele, Respiratory distress, Cyanosis, Cerebellar hypoplasia, Hydrocepha... OMIM:306955
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura ORPHA:90051
Costello Syndrome
Low-set ears, Respiratory insufficiency, Enlarged cerebellum, Vestibular schwannoma, Chiari type ... OMIM:218040
Waardenburg Syndrome Type 3
Acrocyanosis, Hearing impairment ORPHA:896
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Cyanosis, Respiratory failure requiring assisted ventilation OMIM:620423
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory failure, Sensorineural hearing i... ORPHA:209905
Scedosporiosis
Respiratory failure ORPHA:449280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Death in infancy, Cerebellar hypoplasia, Overfolded helix, Abnormal pons morp... OMIM:300868
Ethylene Glycol Poisoning
Tachypnea, Facial palsy, Cyanosis, Episodic respiratory distress ORPHA:31826
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Joubert Syndrome 5
Occipital encephalocele, Episodic tachypnea, Central apnea, Thickened superior cerebellar peduncl... OMIM:610188
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Sensorineural hearing impairment ORPHA:488627
Riddle Syndrome
Neonatal asphyxia, Erythema, Otitis media, Telangiectasia, Conjunctival telangiectasia, Respirato... ORPHA:420741
Poliomyelitis
Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requiring assi... ORPHA:2912
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Cutis marmorata, Telangiectasia, Tachypnea, Livedo reticularis OMIM:615934
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Cyanosis ORPHA:1329
Brachytelephalangic Chondrodysplasia Punctata
Neonatal respiratory distress, Optic nerve hypoplasia, Tachypnea, Central apnea, Mixed hearing im... ORPHA:79345
Congenital Tracheomalacia
Neonatal respiratory distress, Intercostal retractions, Respiratory insufficiency, Apnea, Cyanosis ORPHA:95430
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Hearing impairment, Abnormal earlobe morphology, Respiratory distress, Abnormality of t... ORPHA:2556
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Urticaria ORPHA:183
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Microtia, third degree, Atresia of the external audit... ORPHA:2554
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Malignant Atrophic Papulosis
Vertigo, Telangiectasia of the skin, Respiratory failure ORPHA:679
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Citrullinemia Type I
Tachypnea ORPHA:247525
Pyruvate Dehydrogenase Deficiency
Tachypnea ORPHA:765
Rh Deficiency Syndrome
Jaundice, Tachypnea, Hypoxemia, Miscarriage ORPHA:71275
Listeriosis
Hearing impairment, Respiratory distress, Jaundice, Respiratory failure, Miscarriage ORPHA:533
Radio-Renal Syndrome
Respiratory distress, Respiratory failure ORPHA:3015
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Cyanosis, Death in infancy OMIM:617478
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea OMIM:614857
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Arima Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Dilated fourth ventricle, Tachypnea, Agenesis of cer... OMIM:243910
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Tachypnea ORPHA:217563
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Sensorineural hearing impairment ORPHA:2326
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice ORPHA:26793
Niemann-Pick Disease Type C
Hearing impairment, Respiratory insufficiency, Cerebellar vermis atrophy, Jaundice, Respiratory f... ORPHA:646
Fucosidosis
Acrocyanosis, Hearing impairment, Vascular skin abnormality ORPHA:349
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus, Generalized abnormalit... ORPHA:805
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Apnea, Cyanosis, Infantile sensorineural hearing impairment ORPHA:268943
Poems Syndrome
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Bloom Syndrome
Telangiectasia, Respiratory failure, Cutaneous photosensitivity, Otitis media ORPHA:125
Esophageal Atresia
Hearing impairment, Respiratory distress, Cyanosis, Episodic respiratory distress, Abnormality of... ORPHA:1199
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency du... ORPHA:365
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Conductive hearing impairment, Low-set, posteriorly rotated ears, E... ORPHA:2754
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis, Abnormal earlobe morphology, Respiratory distress ORPHA:141127
Congenital Fiber-Type Disproportion Myopathy
Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur... ORPHA:2020
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Cyanosis ORPHA:99106
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Hearing abnormality, Respiratory failure, Macrotia ORPHA:647
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Cardiogenic Shock
Vertigo, Cyanosis, Hypoxemia ORPHA:97292
Otopalatodigital Syndrome, Type Ii
Low-set ears, Conductive hearing impairment, Respiratory insufficiency, Hydrocephalus, Spina bifi... OMIM:304120
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Cholera
Palmoplantar cutis laxa, Tachypnea, Miscarriage ORPHA:173
Fraser Syndrome 2
Low-set ears, Respiratory failure, Atresia of the external auditory canal OMIM:617666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory failure, Respiratory insufficiency OMIM:613658
Myhre Syndrome
Low-set ears, Hearing impairment, Respiratory insufficiency, Respiratory failure, Microtia OMIM:139210
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea ORPHA:20
Serotonin Syndrome
Tachypnea, Abnormality of the autonomic nervous system ORPHA:43116
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Optic atrophy, Chiari malformation, Hearing impairment, Protruding ear, Cerebellar ... ORPHA:500150
Myasthenia Gravis
Acrocyanosis, Hearing impairment ORPHA:589
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy ORPHA:348
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Microtia, Posteriorly rotated ears, Respiratory failure, Miscarriage ORPHA:96334
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Ecchymosis ORPHA:36234
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Orthostatic hypotension ORPHA:1764
Abetalipoproteinemia
Respiratory failure ORPHA:14
Pyruvate Carboxylase Deficiency
Cerebellar gliosis, Tachypnea ORPHA:3008
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Tachypnea OMIM:615751
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Fragile skin, Respiratory failure ORPHA:79404
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis ORPHA:2299
Steinert Myotonic Dystrophy
Respiratory insufficiency, Facial diplegia, Respiratory insufficiency due to muscle weakness, Res... ORPHA:273
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cardiorespiratory arrest, Cyanosis, Abnormal autonomic nervous system physiology, Sensorineural h... ORPHA:293987
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Beta-Ketothiolase Deficiency
Tachypnea ORPHA:134
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Coronary Arterial Fistula
Tachypnea ORPHA:2041
Holocarboxylase Synthetase Deficiency
Tachypnea OMIM:253270
Pitt-Hopkins Syndrome
Aganglionic megacolon, Abnormal helix morphology, Thickened helices, Acrocyanosis ORPHA:2896
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Jaundice, Respiratory failure ORPHA:731
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Nocardiosis
Respiratory distress, Respiratory failure ORPHA:31204
Dermatomyositis
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Facial eryth... ORPHA:221
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, High-frequency sensorineural hearing impairment, Generalized abnor... ORPHA:740
Primary Hyperoxaluria
Acrocyanosis, Optic disc pallor, Cutis marmorata, Optic atrophy ORPHA:416
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Low-set ears, Abnormal tragus morphology, Posteriorly rotated ears, Respiratory failure ORPHA:2636
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Ulbright-Hodes Syndrome
Low-set ears, Respiratory failure, Abnormal pinna morphology, Respiratory distress ORPHA:3404
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low-set ears, Cerebellar vermis hypoplasia, Tachypnea, Death in infancy OMIM:220111
Hyperparathyroidism, Neonatal Severe
Tachypnea OMIM:239200
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis ORPHA:980
Eisenmenger Syndrome
Vertigo, Hypoxemia, Cyanosis, Respiratory distress ORPHA:97214
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... ORPHA:48435
Generalized Arterial Calcification Of Infancy
Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Respiratory distress, Cyanos... ORPHA:51608
Aicardi-Goutières Syndrome
Low-set ears, Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice ORPHA:51
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Orofaciodigital Syndrome Type 2
Protruding ear, Tachypnea, Apnea, Conductive hearing impairment ORPHA:2751
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Cocaine Intoxication
Respiratory distress, Tachypnea ORPHA:90068
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Exercise-Induced Malignant Hyperthermia
Vertigo, Tachypnea, Flushing, Hypocapnia ORPHA:466650
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... ORPHA:287
Goodpasture Syndrome
Tachypnea, Cyanosis OMIM:233450
Scorpion Envenomation
Erythema, Tachypnea, Purpura ORPHA:466677
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Apneic episodes in infancy, Cyanosis, Respiratory failure requiring assiste... ORPHA:99125
Coffin-Lowry Syndrome
Hearing impairment, Cutis marmorata, Sensorineural hearing impairment, Protruding ear, Acrocyanosis OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Vertigo, Decreased nerve conduction velocity, Apnea, Abnormal autonomic ... ORPHA:285
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter