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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Abnormal autonomic nervous system physiology, Central sleep apnea, Central hypoventilation, Breat... 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
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Perching Syndrome
Dysphagia, Depressed nasal bridge, Respiratory distress OMIM:617055
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... OMIM:614399
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Depressed nasal ridge, Short nose, Anteverted nares, Dyspnea, Respiratory f... ORPHA:1832
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Recurrent viral upper respi... OMIM:619773
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Frontalis muscle weakness, Respiratory insufficiency due to m... OMIM:300580
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... ORPHA:90117
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
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
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Optic atrophy, Short nose, Death in infancy, Neonatal respiratory distress OMIM:615042
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
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Abcd Syndrome
Neonatal death, Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked potentials, To... OMIM:600501
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,... ORPHA:50251
Gaucher Disease Type 2
Dysphagia, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Abnormality of skin pigmentation OMIM:268040
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Paucity of anterior horn motor neurons OMIM:253310
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis, Absent inne... OMIM:606763
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria OMIM:619602
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Cranial nerve motor loss, Dysphagia, Dyspnea, Fa... OMIM:211530
Tetanus
Respiratory distress, Abnormal autonomic nervous system physiology, Tachypnea, Autonomic bladder ... ORPHA:3299
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Cough, Tachypnea, Respiratory... OMIM:263000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Bulbous nose, Respiratory distress, Wide nasal bridge ORPHA:261304
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
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... OMIM:242680
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia OMIM:245590
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Heteroch... OMIM:193510
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... OMIM:616037
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Succinic Acidemia
Respiratory distress OMIM:600335
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Abnormality of skin pigmentation, Hypermelanotic macule OMIM:609056
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phy... OMIM:242670
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Wheezing, Cough, Chronic sinusitis, R... OMIM:613808
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Wide nose, Respiratory distress, Wide nasal bridge ORPHA:89844
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Abnormal cranial nerve morphology, Absent nares, Aplasia/Hypoplasia involvi... ORPHA:990
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Odontochondrodysplasia
Respiratory distress, Depressed nasal bridge, Short nose, Death in infancy ORPHA:166272
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Optic atrophy ORPHA:79097
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Depressed nasal bridge, Anteverted nares, Short columella OMIM:617180
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Nasal congestion, Chronic s... ORPHA:137914
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Multiple Carboxylase Deficiency
Respiratory distress, Optic atrophy, Tachypnea ORPHA:148
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Optic atrophy, Optic disc pallor, Death ... OMIM:301790
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Choanal atresia, Dyspnea, Respiratory failure, Wide nasal bridge ORPHA:2759
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Myotonic Dystrophy 1
Dysphagia, Facial diplegia, Respiratory distress OMIM:160900
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:142
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Moebius Syndrome
Facial diplegia, Respiratory distress, Depressed nasal bridge, Dysphagia, Abnormal nasopharynx mo... OMIM:157900
Waardenburg Syndrome
Underdeveloped nasal alae, Aganglionic megacolon, Hypopigmentation of hair, Abnormality of skin p... ORPHA:3440
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Low hanging columella, Broad columella, Optic atrophy, Narrow nasal bridge,... OMIM:619383
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Depressed nasal bridge, Optic atrophy OMIM:608799
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti... OMIM:615444
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis OMIM:617092
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... ORPHA:1145
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Malaria
Respiratory distress ORPHA:673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Mottled pigmentation ORPHA:226313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Ramos-Arroyo Syndrome
Respiratory distress, Abnormal autonomic nervous system physiology, Depressed nasal bridge, Choan... ORPHA:1051
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti... OMIM:614935
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Wide nasal bridge OMIM:617102
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Depressed nasal bridge, Short nose, Recurrent ... ORPHA:314655
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Optic disc pallor, Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:251270
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Pigmentary retinopathy, Optic atrophy, Exertional dyspn... OMIM:220110
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Optic disc drusen OMIM:611040
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Dysp... ORPHA:98915
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Depressed nasal bridge, Optic atrophy, Anteverted nares, Choanal atresia, M... ORPHA:1555
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis OMIM:604571
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Abnormality of skin pigmentation OMIM:225050
Oromandibular Dystonia
Dysphagia, Respiratory distress, Abnormality of the nose ORPHA:93958
Limited Cutaneous Systemic Sclerosis
Dysphagia, Pulmonary arterial hypertension, Abnormality of skin pigmentation, Hypopigmented skin ... ORPHA:220402
Isolated Arrhinia
Respiratory distress, Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of th... ORPHA:1134
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cough, Aspiration, Neonatal respiratory distress, Dyspne... ORPHA:2004
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Optic atrophy, Short nose ORPHA:329178
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Nasal congestion, Abnormal breath sound, ... ORPHA:141083
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Iatrogenic Botulism
Dysphagia, Dyspnea, Orthostatic hypotension ORPHA:254509
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Cough, Pleural effusion, Pneumonia ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iq
Dysphagia, Depressed nasal bridge, Abnormality of skin pigmentation, Optic atrophy OMIM:612379
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Frontalis muscle weakness... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Frontalis muscle weakness... ORPHA:98914
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Tetrasomy 5P
Respiratory distress, Depigmentation/hyperpigmentation of skin, Short nose, Anteverted nares, Pul... ORPHA:3309
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Short nose, Narrow nasal bridge ORPHA:544503
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Depressed nasal bridge, Optic atrophy, Choanal atresia, Choanal stenosis, A... OMIM:123790
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares... OMIM:608013
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Bulbous nose, Depressed nasal bridge, Abnormality of skin pigmentation, Prominent nose, Anteverte... ORPHA:2180
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Respiratory failure OMIM:617895
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Optic disc pallor, Death i... OMIM:615512
Infantile Krabbe Disease
Respiratory distress, Decreased nerve conduction velocity, Optic atrophy, Respiratory failure, Hy... ORPHA:206436
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Death in childhood, Optic atrophy, Wide nose, Recurrent pneumonia, Wide nas... OMIM:617303
Mogs-Cdg
Respiratory distress, Apnea, Absent brainstem auditory responses, Fair hair, Optic atrophy, Wide ... ORPHA:79330
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Optic atrophy, Dysphagia, Respiratory failure ORPHA:70474
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Retinal pigment epithelial mottling, D... OMIM:618733
Diaphanospondylodysostosis
Respiratory distress, Depressed nasal ridge, Tracheomalacia, Depressed nasal bridge, Respiratory ... OMIM:608022
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Bronchiec... OMIM:615518
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Restrictive Dermopathy 2
Respiratory distress, Convex nasal ridge OMIM:619793
Haddad Syndrome
Abnormal autonomic nervous system physiology, Central sleep apnea, Central hypoventilation, Breat... ORPHA:99803
Boomerang Dysplasia
Hypoplastic nasal septum, Neonatal death, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Radio-Renal Syndrome
Respiratory distress, Convex nasal ridge, Chylothorax, Depressed nasal bridge, Pleural effusion, ... ORPHA:3015
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Tracheomalacia OMIM:202650
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Depressed nasal bridge, Neonatal death OMIM:231680
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal neuron branching, Respiratory insufficiency ORPHA:367
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia ORPHA:238459
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Recurrent upper... ORPHA:95430
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Anosmia, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Rec... OMIM:244400
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology, Aspiration, Dysphagia,... ORPHA:2131
Benign Schwannoma
Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormality of peripheral nervou... ORPHA:252164
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Rodrigues Blindness
Nasal flaring, Narrow nasal bridge OMIM:268320
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Broad nasal tip, Anteverted nares, Underdeveloped nasal alae, Wide nasal br... ORPHA:438216
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Depressed nasal bridge, Short nose, Anteverted nares, Neona... OMIM:217980
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short nose, Choanal atresia, Anteverted nares OMIM:610536
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Long nose, Respiratory insufficiency, Optic atrophy, Generalized hyp... ORPHA:2135
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Depressed nasal ridge ORPHA:1810
Primary Dystonia, Dyt4 Type
Dysphagia, Respiratory distress ORPHA:98805
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon ORPHA:210122
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Pai Syndrome
Depressed nasal bridge, Midline defect of the nose, Nasal polyposis ORPHA:1993
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short nose ORPHA:50810
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia, Depressed nasal bridge, Short nose, Choanal atresia ORPHA:93259
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Stellate iris, Hypopigmentation of the skin, Broad nasal tip, Underdevelope... ORPHA:177907
Kniest Dysplasia
Respiratory distress, Depressed nasal bridge, Tracheomalacia OMIM:156550
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Hyperventilation ORPHA:79241
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Bulbous nose, Depressed nasal bridge, Choanal atresia, Prominent nose, Wide... OMIM:300968
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Pulmonary embolism ORPHA:745
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Convex nasal ridge, Depressed nasal bridge, Neonatal death, Pneumothorax, R... OMIM:266910
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Depressed nasal bridge, Short nose, Choanal atresia ORPHA:93260
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Depressed nasal bridge, Pulmonary arterial hypertension ORPHA:363705
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Abnormal eating behavior, Recurrent pneumonia, Abnormal drinking be... ORPHA:209905
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Cryptococcosis
Respiratory distress, Cough, Abnormal cranial nerve morphology, Pleural effusion, Pneumonia, Dyspnea ORPHA:1546
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Abnormality of retinal pigmentation, Optic atrophy, Sho... ORPHA:505248
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Nasal congestion, Chronic sinusitis, Productive c... ORPHA:244
Japanese Encephalitis
Respiratory distress, Irregular respiration, Paucity of anterior horn motor neurons, Respiratory ... ORPHA:79139
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Anteverted nares OMIM:612863
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni... ORPHA:1199
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Pigmentary retinopathy, Optic atrophy, Hyperventilation, Dy... ORPHA:255210
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased sensory nerve conduction velocity, Central sleep apnea, Impaired ... OMIM:615273
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Pulmonary embolism ORPHA:743
Hypoadrenocorticism, Familial
Apnea, Abnormality of skin pigmentation OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Bulbous nose, Recurrent pneumonia OMIM:616271
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Nasal polyposis, Respiratory insufficiency, Cough, Dysphagia, Hypopigmented sk... ORPHA:183
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Tracheomalacia, Depressed nasal bridge, Respiratory insufficiency, Repeated... ORPHA:536467
Hereditary Angioedema Type 1
Dysphagia, Dyspnea, Respiratory distress, Inspiratory stridor ORPHA:100050
Lipoid Proteinosis
Dysphagia, Nasal polyposis ORPHA:530
Osteoglophonic Dysplasia
Respiratory distress, Depressed nasal bridge, Short nose, Nasal congestion, Anteverted nares, Abn... OMIM:166250
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Periorbital hyperpigmentation, Depressed nasal bridge, Short nose, Rhinitis... OMIM:305100
Arboleda-Tham Syndrome
Respiratory distress, Low hanging columella, Broad nasal tip, Optic atrophy, Recurrent aspiration... OMIM:616268
Hurler Syndrome
Depressed nasal bridge, Abnormality of skin pigmentation, Death in infancy, Anteverted nares, Rhi... ORPHA:93473
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Crackles, Dysphagia, Rhinitis ORPHA:319213
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea ORPHA:26793
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Adnp Syndrome
Respiratory distress, Depressed nasal bridge, Recurrent upper respiratory tract infections, Polyp... ORPHA:404448
Diamond-Blackfan Anemia 10
Respiratory distress, Choanal atresia OMIM:613309
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Arterial Tortuosity Syndrome
Respiratory distress, Short nose, Cardiorespiratory arrest, Dyspnea, Respiratory failure ORPHA:3342
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Wide nose, Hyperpigmentation of the sk... ORPHA:2556
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Farber Disease
Respiratory distress, Respiratory insufficiency, Recurrent upper respiratory tract infections ORPHA:333
Peutz-Jeghers Syndrome
Abnormality of the nose, Nasal polyposis, Neoplasm of the nose, Multiple lentigines ORPHA:2869
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Convex nasal ridge,... ORPHA:79329
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Abnormal autonomic nervous system physiology ORPHA:3206
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Bulbous nose, Broad nasal tip, Depressed nasal bridge, Wide nasal bridge, Dysphagia, Nasa... ORPHA:466943
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Pigmentary retinopathy, Optic atrophy, Pulmonary arteri... ORPHA:79282
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Dysphagia, Exertional dy... ORPHA:365
Schinzel-Giedion Syndrome
Respiratory distress, Broad nasal tip, Short nose, Recurrent pneumonia, Choanal stenosis, Dysphag... ORPHA:798
Toxic Epidermal Necrolysis
Respiratory distress, Polydipsia, Cough, Restrictive ventilatory defect, Dysphagia ORPHA:537
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Facial palsy, Episodic respiratory distress, Tachypnea ORPHA:31826
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, Wheezing, Tachypnea,... ORPHA:1329
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea ORPHA:36234
Lymphangioleiomyomatosis
Chylothorax, Cough, Optic atrophy, Abnormality of skin pigmentation, Restrictive ventilatory defe... ORPHA:538
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:626
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Pulmonary embolism, Cough, Pleural effusion, Dysphagia, Dyspnea ORPHA:3260
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Cocaine Intoxication
Respiratory distress, Wheezing, Cough, Tachypnea, Hyperventilation, Pneumothorax ORPHA:90068
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea, Epistaxis ORPHA:340
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Campomelic Dysplasia
Respiratory distress, Apnea, Depressed nasal ridge, Tracheomalacia, Depressed nasal bridge, Recur... OMIM:114290
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Abnormal respiratory system physiology, Nasal flaring ORPHA:90051
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Q Fever
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:781
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Hypopigmentation of the skin, Chronic lung disease, Respiratory failure req... ORPHA:95455
Rubinstein-Taybi Syndrome 1
Respiratory distress, Convex nasal ridge, Low hanging columella, Recurrent upper respiratory trac... OMIM:180849
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Flared nostrils, Recurrent upper and lower respiratory tract infections, De... ORPHA:480880
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Doors Syndrome
Respiratory distress, Bulbous nose, Aspiration pneumonia, Broad nasal tip, Optic atrophy, Antever... ORPHA:79500
Craniolenticulosutural Dysplasia
Hyperpigmentation of the skin, Wide nose, Abnormality of skin pigmentation, Prominent nasal bridge ORPHA:50814
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Chronic lung disease, Decreased forced ex... OMIM:219700
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Cleidocranial Dysplasia 1
Respiratory distress, Depressed nasal bridge, Neonatal respiratory distress OMIM:119600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Listeriosis
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia ORPHA:533
Sarcoidosis
Chylothorax, Hypopigmentation of the skin, Facial palsy, Cough, Pneumothorax, Hyperpigmentation o... ORPHA:797
Coccidioidomycosis
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion ORPHA:228123
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge, Choanal stenosis ORPHA:83617
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Prominent nose, Neonatal respiratory distress OMIM:614748
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Peutz-Jeghers Syndrome
Hypermelanotic macule, Nasal polyposis OMIM:175200
Leptospirosis
Respiratory distress, Papilledema, Pleural effusion, Cough ORPHA:509
Gitelman Syndrome
Respiratory distress, Salt craving, Polydipsia ORPHA:358
Scimitar Syndrome
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough ORPHA:185
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Hypomelanotic macule ORPHA:805
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge OMIM:617088
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Tachypnea ORPHA:2299
Ulbright-Hodes Syndrome
Respiratory distress, Depressed nasal bridge, Pneumothorax, Large beaked nose, Respiratory failure ORPHA:3404
Eisenmenger Syndrome
Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, I... ORPHA:97214
Ring Chromosome 7 Syndrome
Hyperpigmented nevi, Short nose, Abnormality of skin pigmentation, Anteverted nares, Cafe-au-lait... ORPHA:1449
8Q24.3 Microdeletion Syndrome
Respiratory distress, Broad nasal tip, Optic nerve hypoplasia, Anteverted nares, Dysphagia, Wide ... ORPHA:508488
Chronic Graft Versus Host Disease
Airway obstruction, Cough, Wheezing, Pneumothorax, Abnormality of skin pigmentation, Pleural effu... ORPHA:99921
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress OMIM:306955
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failure requiri... 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
Respiratory distress, Pulmonary arterial hypertension ORPHA:51608
Alström Syndrome
Respiratory distress, Chronic pulmonary obstruction, Recurrent upper respiratory tract infections... ORPHA:64
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Pmm2-Cdg
Respiratory distress, Aspiration pneumonia, Prominent nose, 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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