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Gene: Ascl1 MGI:96919

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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:
achaete-scute family bHLH transcription factor 1
Synonyms:
bHLHa46,  Mash1,  ASH1

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 Ascl1 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 Ascl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Haddad Syndrome
Death in infancy, Central sleep apnea, Abnormal autonomic nervous system physiology, Breathing dy... ORPHA:99803

The table below shows human diseases predicted to be associated to Ascl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Perching Syndrome
Depressed nasal bridge, Respiratory distress, Dysphagia OMIM:617055
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Dysphagia, Respiratory distress, Restrictive ventilatory defect, Abnor... OMIM:614399
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Upper air... ORPHA:60032
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory distress, Short nose, Dyspnea, Anteverted nares, Respiratory f... ORPHA:1832
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Dysphagi... OMIM:619751
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Immunodeficiency 95
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress, Re... OMIM:619773
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Frontalis muscle weakness, Respiratory distress, Respiratory insufficiency due to m... OMIM:300580
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Death in infancy, Respiratory distress, Short nose, Neonatal respiratory distress OMIM:615042
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction OMIM:208550
Abcd Syndrome
Total intestinal aganglionosis, Albinism, Aganglionic megacolon, Abnormal auditory evoked potenti... OMIM:600501
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough, D... ORPHA:50251
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress, Dysphagia ORPHA:77260
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Pulmonary hypoplasia OMIM:253310
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Concave nasal ridge, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Cranial nerv... OMIM:211530
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Tetanus
Abnormal autonomic nervous system physiology, Respiratory distress, Autonomic bladder dysfunction... ORPHA:3299
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Nasal p... OMIM:606763
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Cough, Respiratory failure, T... OMIM:263000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Hypopigmentation of the skin, Respiratory distress, Wide nasal bridge ORPHA:261304
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Optic atrophy OMIM:615597
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... ORPHA:35689
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete... OMIM:172800
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Waardenburg Syndrome, Type 2A
Underdeveloped nasal alae, Premature graying of hair, Wide nasal bridge, Albinism, White eyelashe... OMIM:193510
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Succinic Acidemia
Respiratory distress OMIM:600335
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... ORPHA:1302
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficienc... OMIM:616037
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... OMIM:614299
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Wide nasal bridge, Respiratory distress, Short nose, Broad columella, Narrow nasal... OMIM:619383
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Nasal polyposi... OMIM:617092
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Abnormal respiratory system phy... OMIM:242670
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Chronic sinusitis, Na... OMIM:613808
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Abnormal cranial nerve morphology, Aplasia/Hypoplasia involving the nose, Respirato... ORPHA:990
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Respiratory distress, Wide nasal bridge, Dysphagia ORPHA:89844
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Alcoholism, Pleural ef... ORPHA:36238
Odontochondrodysplasia
Depressed nasal bridge, Respiratory distress, Death in infancy, Short nose ORPHA:166272
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor, Dysphagia ORPHA:97285
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... ORPHA:91359
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress, Optic atrophy ORPHA:79097
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Choanal Atresia
Abnormal nasal mucus secretion, Choking episodes, Respiratory distress, Chronic sinusitis, Upper ... ORPHA:137914
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Chitayat Syndrome
Respiratory distress, Short columella, Depressed nasal bridge, Anteverted nares, Tracheomalacia OMIM:617180
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Multiple Carboxylase Deficiency
Respiratory distress, Optic atrophy, Tachypnea ORPHA:148
Acute Lung Injury
Hypoxemia, Respiratory distress, Alcoholism, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Anaplastic Thyroid Carcinoma
Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Dysphagia ORPHA:142
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distress, Apnea... OMIM:610921
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Respiratory distress, Dyspnea, Respiratory failure, Choanal atresia ORPHA:2759
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Waardenburg Syndrome
Underdeveloped nasal alae, Abnormality of skin pigmentation, Premature graying of hair, Wide nasa... ORPHA:3440
Nipah Virus Disease
Cough, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Congenital Disorder Of Glycosylation, Type Ie
Depressed nasal bridge, Respiratory distress, Optic atrophy OMIM:608799
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Ciliary Dyskinesia, Primary, 22
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615444
Myotonic Dystrophy 1
Facial diplegia, Respiratory distress, Dysphagia OMIM:160900
Moebius Syndrome
Respiratory distress, Facial diplegia, Depressed nasal bridge, Dysphagia, Abnormal nasopharynx mo... OMIM:157900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:608647
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Abnormal anterior horn cell morphology, Respiratory distress, Degenera... ORPHA:1145
Malaria
Respiratory distress ORPHA:673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Mottled pigmentation, Depressed nasal bridge, Respiratory distress ORPHA:226313
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Ramos-Arroyo Syndrome
Choanal stenosis, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Respirator... ORPHA:1051
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
Ciliary Dyskinesia, Primary, 19
Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ... OMIM:614935
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Irregular respiration, Respiratory distress, Depressed nasal bridge, Inspirator... OMIM:604377
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni... OMIM:610913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Depressed nasal bridge, Respiratory distress, Wide nasal bridge OMIM:617102
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Optic disc pallor, Abnormality of retinal pigmentation OMIM:251270
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Pleural eff... ORPHA:2414
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Restlessness, Respiratory distress, Short nose ORPHA:544503
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Optic atrophy, Respiratory distress, Respiratory failure, Death in childhood,... OMIM:220110
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Nasal congestion, Ep... ORPHA:141083
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Melanocytic nevus, Optic atrophy, Respiratory distress, Depressed nasal bridge, Anteverted nares,... ORPHA:1555
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Short nose, Apnea, Recurrent pneumon... ORPHA:314655
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Hypopigmented skin patches, Abnormality of skin pigmentation, Dy... ORPHA:220402
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Emphysema OMIM:604571
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Laryngotracheoesophageal Cleft
Aspiration, Choking episodes, Impaired oropharyngeal swallow response, Cough, Dyspnea, Stridor, N... ORPHA:2004
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, Cough, Pneumonia ORPHA:3392
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Respiratory distre... ORPHA:1134
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Abnormality of skin pigmentation, Optic atrophy, Dysphagia OMIM:612379
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v... OMIM:610978
Oromandibular Dystonia
Dysphagia, Respiratory distress, Abnormality of the nose ORPHA:93958
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Cough ORPHA:86812
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re... ORPHA:98914
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Optic atrophy, Short nose ORPHA:329178
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress OMIM:620011
Tetrasomy 5P
Pulmonary arterial hypertension, Wide nasal bridge, Respiratory distress, Short nose, Depigmentat... ORPHA:3309
Mogs-Cdg
Wide nose, Hypoventilation, Optic atrophy, Fair hair, Absent brainstem auditory responses, Respir... ORPHA:79330
Gaucher Disease, Perinatal Lethal
Respiratory distress, Short nose, Apnea, Depressed nasal bridge, Anteverted nares, Dysphagia, Neo... OMIM:608013
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Restrictive Dermopathy 2
Convex nasal ridge, Respiratory distress OMIM:619793
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Prominent nose, Wide nasal bridge, Depressed nasal bridge, Ante... ORPHA:2180
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Dyspnea, Respiratory distress, Optic atrophy ORPHA:2707
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Respiratory distress, Depressed nasal bridge, Central apnea, Res... OMIM:616482
Infantile Krabbe Disease
Optic atrophy, Respiratory distress, Hypopigmented skin patches, Decreased nerve conduction veloc... ORPHA:206436
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Respiratory distress, Death in adolescence, Respirat... OMIM:615512
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Depressed nasal bridge, Respiratory distress OMIM:617895
Leigh Syndrome With Cardiomyopathy
Optic atrophy, Respiratory distress, Apnea, Central hypoventilation, Dysphagia, Respiratory failure ORPHA:70474
Mucopolysaccharidosis-Plus Syndrome
Wide nose, Optic atrophy, Wide nasal bridge, Respiratory distress, Recurrent pneumonia, Death in ... OMIM:617303
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Respiratory distress, Death in infancy OMIM:300219
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Radio-Renal Syndrome
Convex nasal ridge, Respiratory distress, Pleural effusion, Depressed nasal bridge, Dyspnea, Chyl... ORPHA:3015
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Depressed nasal ridge ORPHA:1810
Neuromuscular Oculoauditory Syndrome
Aspiration, Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling... OMIM:618733
Immunodeficiency 13
Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Recurrent pneumonia, Recurrent upper respir... OMIM:615518
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Haddad Syndrome
Death in infancy, Central sleep apnea, Abnormal autonomic nervous system physiology, Breathing dy... ORPHA:99803
Agnathia-Otocephaly Complex
Wide nose, Tracheomalacia, Respiratory distress OMIM:202650
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Wide nasal bridge, Respiratory distress, Broad nasal tip, Anteverted n... ORPHA:438216
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Upper airway obstruction, Respiratory distress ORPHA:100057
Diaphanospondylodysostosis
Respiratory insufficiency, Depressed nasal ridge, Respiratory distress, Short nose, Depressed nas... OMIM:608022
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Abnormal neuron branching, Respiratory distress ORPHA:367
Alternating Hemiplegia Of Childhood
Aspiration, Abnormal autonomic nervous system physiology, Respiratory distress, Apnea, Impulsivit... ORPHA:2131
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Agitation ORPHA:927
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Chronic... OMIM:244400
Slc35A1-Cdg
Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Beare-Stevenson Cutis Gyrata Syndrome
Choanal stenosis, Optic atrophy, Respiratory distress, Depressed nasal bridge, Anteverted nares, ... OMIM:123790
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Neonatal death, Respiratory distress OMIM:231680
Congenital Tracheomalacia
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ... ORPHA:95430
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Infant Acute Respiratory Distress Syndrome
Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Prominent nose, Iris hypopigmentation, Respiratory distress, Short ... ORPHA:177907
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Depressed nasal bridge, Respiratory distress, Stillbirth OMIM:151210
Rodrigues Blindness
Nasal flaring, Narrow nasal bridge OMIM:268320
Acquired Methemoglobinemia
Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Oculopharyngodistal Myopathy 1
Aspiration, Facial palsy, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Restr... OMIM:164310
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Short nose, Depressed nasal bridge, Anteverted nares, Neonatal respiratory ... OMIM:217980
Hennekam-Beemer Syndrome
Respiratory insufficiency, Wide nose, Irregular hyperpigmentation, Abnormality of skin pigmentati... ORPHA:2135
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia ORPHA:98805
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Respiratory distress, Anteverted nares, Choanal atresia OMIM:610536
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Aganglionic megacolon, Respiratory distress ORPHA:210122
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short nose ORPHA:50810
Kniest Dysplasia
Tracheomalacia, Depressed nasal bridge, Respiratory distress OMIM:156550
Pfeiffer Syndrome Type 2
Respiratory distress, Short nose, Depressed nasal bridge, Tracheomalacia, Choanal atresia ORPHA:93259
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Apnea, Optic neuropathy, Hyperventilation ORPHA:79241
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Hyperactivity, Abnormal drinking behavior, Asthma, Respiratory d... ORPHA:209905
Achondroplasia
Choanal stenosis, Death in infancy, Respiratory distress, Depressed nasal bridge, Upper airway ob... OMIM:100800
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormality of skin pigmentation ORPHA:745
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Wide nasal bridge, Respiratory distress, Depressed nasal bridge, Bulbous nose, Ch... OMIM:300968
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Depressed nasal bridge, Dyspnea, Respiratory distress ORPHA:363705
Pfeiffer Syndrome Type 3
Respiratory distress, Short nose, Depressed nasal bridge, Tracheomalacia, Choanal atresia ORPHA:93260
Hypoadrenocorticism, Familial
Apnea, Abnormality of skin pigmentation OMIM:240200
Pai Syndrome
Depressed nasal bridge, Nasal polyposis, Midline defect of the nose ORPHA:1993
Cryptococcosis
Respiratory distress, Pleural effusion, Dyspnea, Cough, Abnormal cranial nerve morphology, Pneumonia ORPHA:1546
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Congenital Disorder Of Deglycosylation 1
Central sleep apnea, Impaired oropharyngeal swallow response, Respiratory distress, Decreased sen... OMIM:615273
Japanese Encephalitis
Respiratory paralysis, Irregular respiration, Decreased motor nerve conduction velocity, Paucity ... ORPHA:79139
Esophageal Atresia
Oral aversion, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotracheomal... ORPHA:1199
Primary Ciliary Dyskinesia
Respiratory failure, Bronchiectasis, Productive cough, Chronic sinusitis, Nasal polyposis, Chroni... ORPHA:244
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Optic atrophy, Respiratory distress, Abnormality of retinal pigm... ORPHA:505248
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Anteverted nares OMIM:612863
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Respiratory distress, ... ORPHA:536467
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormality of skin pigmentation ORPHA:743
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Apnea, Dyspnea, Dysphagia, Hyperventilation, Episodic resp... ORPHA:255210
Hyperparathyroidism, Transient Neonatal
Short nasal bridge, Wide nasal bridge, Respiratory distress, Depressed nasal bridge, Anteverted n... OMIM:618188
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Bulbous nose, Respiratory distress OMIM:616271
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Asthma, Nasal polyposis, Hypopigmented skin patches, Sinusitis, Cough,... ORPHA:183
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Hereditary Angioedema Type 1
Dyspnea, Inspiratory stridor, Respiratory distress, Dysphagia ORPHA:100050
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Lipoid Proteinosis
Nasal polyposis, Dysphagia ORPHA:530
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Benign Schwannoma
Facial palsy, Nasal polyposis, Abnormality of the twelfth cranial nerve, Abnormality of periphera... ORPHA:252164
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Optic atrophy, Respiratory distress, Freckling, Broad nasal tip, ... OMIM:616268
Lujo Hemorrhagic Fever
Rhinitis, Respiratory distress, Crackles, Dysphagia, Nonproductive cough ORPHA:319213
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress, Death in ... OMIM:618426
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Underdeveloped nasal alae, Rhinitis, Periorbital hyperpigmentation, Respiratory distress, Short n... OMIM:305100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Respiratory distress, Tachypnea, Episodic tachypnea ORPHA:26793
Osteoglophonic Dysplasia
Respiratory distress, Short nose, Depressed nasal bridge, Anteverted nares, Nasal congestion, Abn... OMIM:166250
Hurler Syndrome
Rhinitis, Abnormal nerve conduction velocity, Abnormality of skin pigmentation, Wide nasal bridge... ORPHA:93473
Adnp Syndrome
Aspiration, Respiratory distress, Depressed nasal bridge, Recurrent upper respiratory tract infec... ORPHA:404448
Ethylene Glycol Poisoning
Tachypnea, Abnormal pattern of respiration, Alcoholism, Episodic respiratory distress, Facial palsy ORPHA:31826
Mgat2-Cdg
Recurrent upper and lower respiratory tract infections, Low hanging columella, Convex nasal ridge... ORPHA:79329
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Arterial Tortuosity Syndrome
Respiratory distress, Short nose, Cardiorespiratory arrest, Dyspnea, Respiratory failure ORPHA:3342
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Asthma, Nasal flaring, Depressed nasal bridge, Broad nasal tip, Attention defi... ORPHA:466943
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Multiple lentigines, Abnormality of the nose ORPHA:2869
Diamond-Blackfan Anemia 10
Respiratory distress, Choanal atresia OMIM:613309
Farber Disease
Respiratory insufficiency, Recurrent upper respiratory tract infections, Respiratory distress ORPHA:333
Microphthalmia With Linear Skin Defects Syndrome
Wide nose, Abnormality of skin pigmentation, Wide nasal bridge, Respiratory distress, Abnormality... ORPHA:2556
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory failure, Respiratory failure requiri... ORPHA:308552
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Auriculocondylar Syndrome
Snoring, Obstructive sleep apnea, Respiratory distress ORPHA:137888
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Chronic lung disease, Death in childhood, Respiratory distress OMIM:613848
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Exertional dyspnea, Respiratory distress, Orthopnea, Dysphagia, Respir... ORPHA:365
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Stüve-Wiedemann Syndrome
Asthma, Abnormal autonomic nervous system physiology, Apnea, Respiratory distress ORPHA:3206
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Optic atrophy, Respiratory distress, Pigment... ORPHA:79282
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Cough, Dysphagia, Polydipsia ORPHA:537
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Schinzel-Giedion Syndrome
Choanal stenosis, Aganglionic megacolon, Respiratory distress, Short nose, Recurrent pneumonia, B... ORPHA:798
Cocaine Intoxication
Pneumothorax, Wheezing, Respiratory distress, Agitation, Cough, Hyperventilation, Tachypnea ORPHA:90068
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Abnormality of skin pigmentation, Short nose, Attention deficit ... ORPHA:65286
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Agitation, Pleural effusion, Epistaxis, Dyspnea, Cough, Respiratory failure... ORPHA:340
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumonia, Pulmo... ORPHA:1329
Bacterial Toxic-Shock Syndrome
Pneumonia, Sinusitis, Respiratory distress, Tachypnea ORPHA:36234
Lymphangioleiomyomatosis
Abnormality of skin pigmentation, Pneumothorax, Optic atrophy, Emphysema, Restrictive ventilatory... ORPHA:538
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Rubinstein-Taybi Syndrome 1
Hyperactivity, Convex nasal ridge, Prominent nose, Cafe-au-lait spot, Wide nasal bridge, Respirat... OMIM:180849
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Respiratory distress OMIM:115197
Lymphatic Malformation 7
Pleural effusion, Respiratory distress, Chylothorax OMIM:617300
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Asthma, Respiratory distress, Pleural effusion, Dyspnea, Cough, Dysphagia ORPHA:3260
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Sepsis In Premature Infants
Dyspnea, Nasal flaring, Abnormal respiratory system physiology, Abnormal mucociliary clearance ORPHA:90051
Nocardiosis
Pneumothorax, Productive cough, Respiratory distress, Emphysema, Pleural effusion, Dyspnea, Respi... ORPHA:31204
Campomelic Dysplasia
Tracheobronchomalacia, Depressed nasal ridge, Respiratory distress, Apnea, Depressed nasal bridge... OMIM:114290
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Hypopigmentation of the skin, Rhinitis, Respiratory distress, Hyperpigmentation of the skin, Coug... ORPHA:95455
Tuberous Sclerosis Complex
Hyperactivity, Respiratory distress, Impulsivity, Attention deficit hyperactivity disorder, Respi... ORPHA:805
Q Fever
Pleural effusion, Pneumonia, Cough, Respiratory distress ORPHA:781
Cleidocranial Dysplasia 1
Neonatal respiratory distress, Depressed nasal bridge, Respiratory distress, Wide nasal bridge OMIM:119600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Prominent nose, Wide nasal bridge, Prominent nasolabial fold, Respiratory distress, Recurrent upp... ORPHA:480880
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Doors Syndrome
Aspiration pneumonia, Wide nasal bridge, Optic atrophy, Respiratory distress, Wide nasal base, Br... ORPHA:79500
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Cystic Fibrosis
Bronchiectasis, Asthma, Reduced forced vital capacity, Chronic sinusitis, Nasal polyposis, Recurr... OMIM:219700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Pneumonia, Respiratory distress ORPHA:37042
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
8Q24.3 Microdeletion Syndrome
Hyperactivity, Wide nasal bridge, Respiratory distress, Optic nerve hypoplasia, Broad nasal tip, ... ORPHA:508488
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy OMIM:617156
Listeriosis
Respiratory failure, Pneumonia, Respiratory distress, Miscarriage ORPHA:533
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress ORPHA:17
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Apnea, Respiratory distress OMIM:261740
Sarcoidosis
Hypopigmentation of the skin, Pneumothorax, Bronchiectasis, Facial palsy, Emphysema, Pleural effu... ORPHA:797
Coccidioidomycosis
Pleural empyema, Exudative pleural effusion, Respiratory distress, Cough, Pneumonia ORPHA:228123
Congenital Tracheal Stenosis
Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing ORPHA:141127
Ear-Patella-Short Stature Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2554
Scimitar Syndrome
Pulmonary arterial hypertension, Pneumothorax, Respiratory distress, Cough ORPHA:185
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Respiratory distress, Dyspnea, Stridor, Respiratory failure, Pneumonia ORPHA:79404
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Neonatal respiratory distress, Prominent nose, Respiratory distress, Respiratory acidosis OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Underdeveloped nasal alae, Choanal stenosis, Respiratory distress, Wide nasal bridge ORPHA:83617
Peutz-Jeghers Syndrome
Hypermelanotic macule, Nasal polyposis OMIM:175200
Gitelman Syndrome
Salt craving, Respiratory distress, Polydipsia ORPHA:358
Leptospirosis
Pleural effusion, Papilledema, Cough, Respiratory distress ORPHA:509
Kasabach-Merritt Syndrome
Hypopnea, Respiratory distress ORPHA:2330
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Respiratory distress OMIM:617088
Ulbright-Hodes Syndrome
Convex nasal ridge, Pneumothorax, Respiratory distress, Depressed nasal bridge, Respiratory failure ORPHA:3404
Aortic Arch Interruption
Exertional dyspnea, Tachypnea, Respiratory distress ORPHA:2299
Cystic Fibrosis
Pneumothorax, Bronchiectasis, Asthma, Nasal polyposis, Airway obstruction, Sinusitis, Reduced for... ORPHA:586
Eisenmenger Syndrome
Pulmonary arterial hypertension, Exertional dyspnea, Hypoxemia, Respiratory distress, Increased p... ORPHA:97214
Chronic Graft Versus Host Disease
Abnormality of skin pigmentation, Pneumothorax, Bronchiectasis, Pleural effusion, Airway obstruct... ORPHA:99921
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress OMIM:306955
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respiratory dist... ORPHA:99125
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Respiratory distress ORPHA:51608
Alström Syndrome
Pulmonary arterial hypertension, Recurrent sinusitis, Chronic pulmonary obstruction, Respiratory ... ORPHA:64
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Respiratory distress ORPHA:99646
Pmm2-Cdg
Aspiration pneumonia, Prominent nose, Respiratory distress, Anteverted nares, Prominent nasal bridge ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ascl1

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 Ascl1.

No publications found that use IMPC mice or data for Ascl1.

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MGI Allele Allele Type Produced
Ascl1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ascl1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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