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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, Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnorm... 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
Respiratory distress, Depressed nasal bridge, Dysphagia OMIM:617055
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... ORPHA:60032
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Dyspnea, Depressed nasal ridge, Respiratory failure, Shor... ORPHA:1832
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... OMIM:300580
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy, Short nose OMIM:615042
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction OMIM:208550
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... ORPHA:50251
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia ORPHA:77260
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
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
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia OMIM:245590
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a... OMIM:606763
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... OMIM:263000
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Hypopigmentation of the skin, Wide nasal bridge ORPHA:261304
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Dyspnea, ... OMIM:211530
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Anorexia, Cough ORPHA:99825
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... OMIM:172800
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
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Underdeveloped nasal alae, Wide nasal... OMIM:193510
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polymicrogyria, Abnormal cortical gyration OMIM:619602
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... OMIM:616037
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Anteverted nares, Optic atrophy, Wide nasal bridge, At... OMIM:619383
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Choanal Atresia
Respiratory distress, Upper airway obstruction, Nasal congestion, Choking episodes, Tracheomalaci... ORPHA:137914
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Wheezing, Abnormal axonemal organization of respi... OMIM:613808
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Aplasia/Hypoplasia involving the nose, Absent nares, Abnormal cranial nerve... ORPHA:990
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy, Anorexia ORPHA:79312
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Wide nose, Wide nasal bridge, Dysphagia ORPHA:89844
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short nose, Depressed nasal bridge ORPHA:166272
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea ORPHA:79097
Chitayat Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella, Tracheomalacia OMIM:617180
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia, Obsessive-compulsive trait, Dysphagia OMIM:160900
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:613561
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Ramos-Arroyo Syndrome
Respiratory distress, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Concave na... ORPHA:1051
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior OMIM:237310
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough ORPHA:142
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Choanal atresia, Dyspnea, Wide nasal bridge, Respiratory failure ORPHA:2759
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Facial diplegia, D... OMIM:157900
Waardenburg Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal ala... ORPHA:3440
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... OMIM:615444
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Optic atrophy, Depressed nasal bridge OMIM:608799
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis... OMIM:620197
Malaria
Respiratory distress ORPHA:673
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress... ORPHA:1145
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re... OMIM:614935
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Mottled pigmentation, Depressed nasal bridge ORPHA:226313
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Depressed nasal bridge, Inspiratory stridor, Irregular re... OMIM:604377
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Oromandibular Dystonia
Respiratory distress, Bruxism, Dysphagia, Abnormality of the nose ORPHA:93958
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Optic disc pallor OMIM:251270
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Recurrent... ORPHA:314655
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... ORPHA:141083
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Retinal pigment epithelial mottling, Depressed nasal bridge, Wide nasal bridge OMIM:617102
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Restlessness, Short nose, Respiratory distress ORPHA:544503
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary... OMIM:220110
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, M... ORPHA:1555
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Pulmonary arterial hypertension, Hypopigmented skin patches, Dy... ORPHA:220402
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cough, Dyspnea, Stridor, Choking episodes, Impaired oropharyngeal ... ORPHA:2004
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Tularemia
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cough, Pleural effusion ORPHA:3392
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Optic atrophy, Depressed nasal bridge, Dysphagia OMIM:612379
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Respiratory i... ORPHA:98915
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Respiratory distress, Hypopigmentation of hair, Underdeveloped nasolabial fo... ORPHA:177907
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Short nose, Optic atrophy ORPHA:329178
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Isolated Arrhinia
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... ORPHA:1134
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Tetrasomy 5P
Respiratory distress, Anteverted nares, Wide nasal bridge, Depigmentation/hyperpigmentation of sk... ORPHA:3309
Isolated Atp Synthase Deficiency
Respiratory distress, Optic atrophy ORPHA:254913
Bare Lymphocyte Syndrome, Type I
Emphysema, Nasal polyposis, Chronic sinusitis, Bronchiectasis OMIM:604571
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivit... ORPHA:2131
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Opt... ORPHA:79330
Gaucher Disease, Perinatal Lethal
Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Dysphagia, Neonatal death,... OMIM:608013
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Abnorm... ORPHA:2180
Restrictive Dermopathy 2
Respiratory distress, Convex nasal ridge OMIM:619793
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Dysphagia OMIM:620166
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Respiratory failure, Neonatal death,... OMIM:616482
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Agitation, Abnormal repetitive mannerisms ORPHA:927
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Depressed nasal bridge OMIM:617895
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Wide nose, Recurrent pneumonia, Optic atrophy, Wide nasal bridge, Death in ... OMIM:617303
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Tracheomalacia OMIM:202650
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Dyspnea, Respiratory failure, Chylothorax, Pleural ... ORPHA:3015
Immunodeficiency 13
Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasi... OMIM:615518
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Retinal pigment epithelial mottling, A... OMIM:618733
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Depressed nasal ridge ORPHA:1810
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal br... ORPHA:438216
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Diaphanospondylodysostosis
Respiratory distress, Depressed nasal bridge, Depressed nasal ridge, Respiratory insufficiency, T... OMIM:608022
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal neuron branching, Respiratory insufficiency ORPHA:367
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal ... OMIM:123790
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Depressed nasal bridge, Neonatal death OMIM:231680
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Oculopharyngodistal Myopathy 1
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... OMIM:164310
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Depressed nasal bridge OMIM:151210
Rodrigues Blindness
Narrow nasal bridge, Nasal flaring OMIM:268320
Hennekam-Beemer Syndrome
Wide nose, Generalized hyperpigmentation, Pneumonia, Long nose, Optic atrophy, Wide nasal bridge,... ORPHA:2135
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Tr... OMIM:217980
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia ORPHA:98805
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short nose, Anteverted nares, Choanal atresia OMIM:610536
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi... OMIM:620278
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon ORPHA:210122
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent outer dynein arms, Anosmia, Bronchiectasis, Immotile cilia, Ch... OMIM:244400
Haddad Syndrome
Death in infancy, Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnorm... ORPHA:99803
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Tracheomalacia, Short nose ORPHA:93259
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Abnormal eating behavior, Ast... ORPHA:209905
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Facial palsy, Anorexia, Paucity ... ORPHA:79139
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short nose ORPHA:50810
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Kniest Dysplasia
Respiratory distress, Depressed nasal bridge, Tracheomalacia OMIM:156550
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Hyperventilation ORPHA:79241
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Wide nose, Recurrent upper respiratory tract infections, Recurrent pneumonia OMIM:607143
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Tracheomalacia, Short nose ORPHA:93260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Depressed nasal bridge, Choanal atresia, Prominent nose, Bulbous nose, Wide... OMIM:300968
Achondroplasia
Respiratory distress, Death in infancy, Depressed nasal bridge, Upper airway obstruction, Choanal... OMIM:100800
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Pulmonary embolism ORPHA:745
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation, Apnea OMIM:240200
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Abnormal cranial nerve morphology ORPHA:1546
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Midline defect of the nose ORPHA:1993
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Wheezing, Bronchiectasis, Nasal... ORPHA:244
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Depressed nasal bridge, Pulmonary arterial hypertension ORPHA:363705
Adnp Syndrome
Respiratory distress, Depressed nasal bridge, Aggressive behavior, Oral-pharyngeal dysphagia, Rec... ORPHA:404448
Esophageal Atresia
Respiratory distress, Choanal atresia, Episodic respiratory distress, Chronic pulmonary obstructi... ORPHA:1199
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Abnormality of retinal pigmentation, Optic atrophy, Stridor, Pulmonary arte... ORPHA:505248
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Repeated pneumothoraces, Respirat... ORPHA:536467
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Anteverted nares, Oral-pharyngeal dysphagia, Impaired orophar... OMIM:615273
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nasal br... OMIM:618188
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Pigmentary retinopathy, Dysphagia, ... ORPHA:255210
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Bulbous nose, Asthma, Nasal flaring... ORPHA:466943
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Pulmonary embolism ORPHA:743
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Anteverted nares OMIM:612863
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Bulbous nose, Recurrent pneumonia OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Convex nasal ridge,... ORPHA:79329
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Nasal polyposis, Asthma, Hypopigmented skin patches, Dysphagia, Respiratory insufficie... ORPHA:183
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia ORPHA:100050
Lipoid Proteinosis
Nasal polyposis, Dysphagia ORPHA:530
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Prominent nasal bridge, Broad nasal tip, Bif... OMIM:616268
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia ORPHA:319213
Benign Schwannoma
Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, A... ORPHA:252164
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Periorbital hy... OMIM:305100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Aggressive behavior, Abnormality of skin pigmentation, Attention deficit ... ORPHA:65286
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea ORPHA:26793
Ethylene Glycol Poisoning
Facial palsy, Episodic respiratory distress, Tachypnea, Addictive alcohol use, Abnormal pattern o... ORPHA:31826
Hurler Syndrome
Death in infancy, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormality of ski... ORPHA:93473
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Short nose ORPHA:3342
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory insufficiency ORPHA:333
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Short nose, Wide nasal bridge OMIM:620369
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Multiple lentigines, Abnormality of the nose ORPHA:2869
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Diamond-Blackfan Anemia 10
Respiratory distress, Choanal atresia OMIM:613309
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Wide nose, Dyspnea, Wide nasal bridge,... ORPHA:2556
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology ORPHA:3206
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Optic atrophy, Pigmentary retinopathy, Pulmonary arteri... ORPHA:79282
Toxic Epidermal Necrolysis
Respiratory distress, Dysphagia, Restrictive ventilatory defect, Cough, Polydipsia ORPHA:537
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Schinzel-Giedion Syndrome
Respiratory distress, Aganglionic megacolon, Broad nasal tip, Recurrent pneumonia, Choanal stenos... ORPHA:798
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Osteoglophonic Dysplasia
Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal congestion... OMIM:166250
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation ORPHA:90068
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Q Fever
Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion ORPHA:781
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... ORPHA:340
Lymphangioleiomyomatosis
Dyspnea, Pneumothorax, Optic atrophy, Abnormality of skin pigmentation, Restrictive ventilatory d... ORPHA:538
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Pneumonia ORPHA:36234
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hyperactivity, Impulsivity, Prominent nose, Self-mutilation, Recurrent uppe... OMIM:180849
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Concave nasal ridge, Cough, Nasal mucosa vasculitis, Rhinor... OMIM:608710
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... ORPHA:95455
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Dysphagia, Cough, Pleural effusion ORPHA:3260
Sepsis In Premature Infants
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance ORPHA:90051
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Apnea, Recurrent upp... OMIM:114290
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior ORPHA:17
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hyperactivity, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, W... ORPHA:508488
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Wide nose, Prominent nasal bridge, Hyperpigmentation of the skin ORPHA:50814
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, A... OMIM:219700
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Wide nasal bridge OMIM:119600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Depressed nasal bridge, Choanal atresia, Prominent nose, Flared nostrils, W... ORPHA:480880
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Leptospirosis
Respiratory distress, Papilledema, Anorexia, Cough, Pleural effusion ORPHA:509
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Doors Syndrome
Respiratory distress, Anteverted nares, Broad nasal tip, Bulbous nose, Optic atrophy, Wide nasal ... ORPHA:79500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy OMIM:617156
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Sarcoidosis
Abnormal nasal mucosa morphology, Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Upper airw... ORPHA:797
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea OMIM:261740
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Prominent nose OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Choanal stenosis, Wide nasal bridge, Underdeveloped nasal alae ORPHA:83617
Peutz-Jeghers Syndrome
Nasal polyposis, Hypermelanotic macule OMIM:175200
Gitelman Syndrome
Respiratory distress, Polydipsia, Salt craving ORPHA:358
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Cystic Fibrosis
Sinusitis, Nasal polyposis, Reduced forced expiratory volume in one second, Asthma, Pneumothorax,... ORPHA:586
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge OMIM:617088
Ulbright-Hodes Syndrome
Respiratory distress, Depressed nasal bridge, Pneumothorax, Respiratory failure, Convex nasal ridge ORPHA:3404
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Chronic Graft Versus Host Disease
Anorexia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Dysphagia, Abnormality of skin pigment... ORPHA:99921
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... ORPHA:97214
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress OMIM:306955
Plague
Respiratory distress, Acute infectious pneumonia, Anorexia ORPHA:707
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension ORPHA:51608
Alström Syndrome
Respiratory distress, Optic disc pallor, Recurrent upper respiratory tract infections, Chronic pu... ORPHA:64
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Pmm2-Cdg
Respiratory distress, Anteverted nares, Prominent nasal bridge, Prominent nose, Aspiration pneumonia ORPHA:79318
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374

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.

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
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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