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Gene: Crhr1 MGI:88498

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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:
corticotropin releasing hormone receptor 1
Synonyms:
CRF 1 receptor,  CRF-R1alpha,  CRFR1,  CRF1R

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 Crhr1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Crhr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Optic Atrophy 5
Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... OMIM:610708
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung morphology, Abnor... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... OMIM:219080
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Diabetes mellitus, Pneumonia, Confusion, Cough, Nonproductive cough,... ORPHA:36238
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Cerebral ischemia, Increas... ORPHA:3325
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Depression, Mental deterioration, Memory impairment ORPHA:240085
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Hypophosphatasia
Irritability, Emphysema, Respiratory insufficiency ORPHA:436
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Dysphagia, Cough, Abnorma... ORPHA:77260
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of pattern ... OMIM:165500
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Hypogonadism, Cognitive impairment, Bronc... OMIM:615993
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Abnormal repetitive mannerisms OMIM:616341
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp... ORPHA:97285
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Increased serum serotoni... ORPHA:100083
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Cognitive impairment, Aggressive behavior OMIM:237310
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, An... ORPHA:142
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Irritability, Respiratory insufficiency ORPHA:238329
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, P... ORPHA:1302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Depression, Hypertension, Increased circulating cortisol ... OMIM:615830
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... ORPHA:45452
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure, Dysphagia OMIM:619751
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Nipah Virus Disease
Respiratory distress, Anorexia, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Emphysema, Ch... ORPHA:324
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Small vessel vasculitis, Restrictive ventilatory defect, Cough, Pleural effus... ORPHA:36412
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema OMIM:620365
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Delirium, Dementia, Respiratory distress ORPHA:2596
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Memory impairment, Mental deterioration, Dysphagia ORPHA:240103
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, D... ORPHA:31204
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Stargardt Disease
Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... ORPHA:827
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Hypertens... OMIM:615954
Sarcoidosis, Susceptibility To, 1
Anorexia, Cough, Dyspnea, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary... OMIM:181000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Agitation, Cerebral ischemia, Cognitive impairment, Emotional la... ORPHA:927
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... ORPHA:3077
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, H... OMIM:160900
Malaria
Respiratory distress, Cognitive impairment ORPHA:673
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Mercury Poisoning
Respiratory distress, Tachycardia, Confusion, Anorexia, Dyspnea, Hypertension, Interstitial pneum... ORPHA:330021
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... ORPHA:538
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentration, Anorexia, ... ORPHA:97287
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... OMIM:613561
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Choking episode... ORPHA:137914
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Mental deterioration, Respiratory failure, Dysphagia, Type I diabetes mellitus OMIM:620166
Inhalational Anthrax
Respiratory distress, Confusion, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal ... ORPHA:247257
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Succinic Acidemia
Respiratory distress OMIM:600335
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Dyspnea, Stridor, Choking... ORPHA:2004
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Breast hypoplasia OMIM:613804
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Slc35A1-Cdg
Respiratory distress, Abnormal bleeding, Prolonged bleeding time, Pneumonia, Hypoxemia, Subcutane... ORPHA:238459
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Respiratory insufficiency, Depression, A... ORPHA:100924
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... ORPHA:90793
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypopla... OMIM:613177
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Restrictive ventilatory ... ORPHA:1572
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Emphysema, Dementia, Subretinal pigment epithelium hemorrhage ORPHA:357074
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Dyspnea, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Em... OMIM:123700
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Confusion, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Bruising susceptibility OMIM:614816
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Folinic Acid-Responsive Seizures
Respiratory distress, Irritability, Apnea ORPHA:79097
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Holocarboxylase Synthetase Deficiency
Respiratory distress, Irritability, Tachypnea, Anorexia ORPHA:79242
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... ORPHA:226313
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra... ORPHA:363618
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Canavan Disease
Abnormality of visual evoked potentials, Blindness, Visual impairment ORPHA:141
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Progressive neurologic deterioration OMIM:612075
Primary Dystonia, Dyt4 Type
Respiratory distress, Dementia, Dysphagia ORPHA:98805
Oromandibular Dystonia
Respiratory distress, Bruxism, Dysphagia, Depression ORPHA:93958
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Congenital adrenal hyperplasia, Cryptorchidism, Neonatal as... ORPHA:90791
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:616835
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Supravalvular aortic stenosis OMIM:219100
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Delirium, H... ORPHA:90068
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Dysphagia OMIM:619708
Sarcoidosis
Heart block, Abnormal lung morphology, Ventricular tachycardia, Cough, Emphysema, Hypothyroidism,... ORPHA:797
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Confusion, Cough, Pleural effusion ORPHA:3392
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Anorexia ORPHA:79312
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism, Cognitive impairment, Respiratory insufficiency ORPHA:1145
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia OMIM:616733
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Nyctalopia, Reduced visual acuity OMIM:618195
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... ORPHA:454836
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased circulating ACTH ... ORPHA:90790
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia ORPHA:89844
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema, Cryptorchidism ORPHA:2962
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Confusion, Crackles, Excessive bleeding after a venipuncture, Atelec... ORPHA:319213
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Hypoxemia, Mitral regurgita... ORPHA:284979
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... ORPHA:805
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... OMIM:115197
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... OMIM:613658
Meier-Gorlin Syndrome 1
Respiratory distress, Cryptorchidism, Emphysema, Breast hypoplasia OMIM:224690
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothor... ORPHA:2038
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Irritability, Restlessness ORPHA:544503
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Confusion,... ORPHA:340
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Upper airway obstruction ORPHA:100057
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Oculocutaneous Albinism Type 1
Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity, Amblyopia ORPHA:352731
Carnitine Deficiency, Systemic Primary
Respiratory distress, Confusion, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, ... OMIM:212140
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism, Decreased testicular size, Dysphagia OMIM:157900
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni... ORPHA:90349
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok... ORPHA:52368
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... OMIM:614299
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ir... ORPHA:348
Stt3B-Cdg
Respiratory distress, Cryptorchidism ORPHA:370924
Isolated Atp Synthase Deficiency
Respiratory distress, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Hypertrophic cardiomyopat... ORPHA:254913
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Resp... ORPHA:50810
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Respiratory distress OMIM:300219
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema ORPHA:289
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism OMIM:615597
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivit... ORPHA:2131
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Attention de... OMIM:619383
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... ORPHA:1215
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... ORPHA:365
Marfan Syndrome
Spontaneous pneumothorax, Congestive heart failure, Emphysema, Attention deficit hyperactivity di... ORPHA:558
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax,... OMIM:620278
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v... OMIM:601152
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Raynaud pheno... ORPHA:79128
Infantile Krabbe Disease
Respiratory distress, Psychomotor deterioration, Progressive neurologic deterioration, Abnormal h... ORPHA:206436
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... ORPHA:31826
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... ORPHA:75249
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... ORPHA:185
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Em... OMIM:245150
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Myocarditis, Irritability, Cardiomyopathy, Hypotension, ... ORPHA:292
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Progressive neurologic deterioration, Pulmonary hypoplasia, Dysphagi... OMIM:608013
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Confusion, Supraventricular arrhythmia, Pulmonar... ORPHA:3260
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Maternal diabetes, Episodic r... ORPHA:1199
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary ... ORPHA:2519
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregular... OMIM:604377
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... ORPHA:537
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Confusion, Respiratory tract infe... ORPHA:36234
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Respiratory failure, Isc... ORPHA:500150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insuffi... OMIM:614437
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Myocarditis, Vasculitis, Abnormal pulmon... ORPHA:781
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... ORPHA:3309
Japanese Encephalitis
Respiratory distress, Irregular respiration, Anorexia, Respiratory paralysis, Cognitive impairmen... ORPHA:79139
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,... OMIM:154700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Tachypne... ORPHA:26793
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... ORPHA:99827
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, Abnormality of visual evoked potentials, High myopia OMIM:614457
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Bronchiolit... ORPHA:90348
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Amblyopia OMIM:617523
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... ORPHA:168491
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ... ORPHA:177907
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Hypotension, Dysphagia, Inspiratory stridor ORPHA:100050
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis... ORPHA:358
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Myopia, Hypermetropia, Cerebral visual impairment OMIM:616875
Viss Syndrome
Epidural hemorrhage, Dyspnea, Asthma, Pneumothorax, Dysphagia, Pulmonary artery aneurysm, Pulmona... OMIM:619472
Mgat2-Cdg
Respiratory distress, Abnormal bleeding, Abnormality of the endocrine system, Hypoplastic nipples... ORPHA:79329
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Friedreich Ataxia
Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d... OMIM:229300
Adnp Syndrome
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Recurrent u... ORPHA:404448
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Hydrocele testis, Inappropriate antidiuretic hormon... ORPHA:79330
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... OMIM:261740
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Resp... ORPHA:367
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Dyspnea, Congest... ORPHA:363705
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Mental deteri... ORPHA:1546
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Visual loss, Blindness, Visual impairment ORPHA:206443
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Short attention span, Persistent fetal circulation, Tricuspid regurgitation... OMIM:612863
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Myopia OMIM:601455
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Oculocutaneous Albinism Type 1A
Photophobia, Visual impairment, Abnormality of visual evoked potentials ORPHA:79431
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... OMIM:616482
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pne... OMIM:607143
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Mepan Syndrome
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:508093
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Confusion, Myocardial infarction OMIM:274150
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... OMIM:615512
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Memory imp... ORPHA:79282
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... ORPHA:97214
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... OMIM:617303
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss OMIM:125310
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aortic valve stenosis, Pulmonary arterial hypertension,... ORPHA:210122
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Cardiomyopathy, Tracheomalacia OMIM:217980
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Emphysema, Cryptorchidism ORPHA:2834
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype... OMIM:220110
Familial Chylomicronemia Syndrome
Diabetes mellitus, Pulmonary embolism, Depression, Dementia, Abnormal emotion, Memory impairment ORPHA:444490
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Short attention span, Apnea, Aggressive b... ORPHA:17
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Prolonged... OMIM:616271
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Short attention span ORPHA:438216
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia OMIM:151210
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Unilateral breast hypoplasia, Abnormality... OMIM:300968
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the endocrine system, Vasculitis, V... ORPHA:228123
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal ... ORPHA:90051
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lung lobatio... ORPHA:141127
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia OMIM:231680
Leptospirosis
Respiratory distress, Pericarditis, Anorexia, First degree atrioventricular block, Retinal hemorr... ORPHA:509
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Hyperthyroidism, Pneumonia, Abnormality o... ORPHA:37042
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs... OMIM:615344
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Colchicine Poisoning
Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hypertension ORPHA:1555
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated cardiomyop... ORPHA:255210
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Restlessness, Oral-pharyngeal dysphagia, ... OMIM:615273
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Car... ORPHA:353281
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Ovarian cyst, Hyperparathyroidism OMIM:618188
Achondroplasia
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Ramos-Arroyo Syndrome
Respiratory distress, Self-mutilation ORPHA:1051
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Plague
Abnormal bleeding, Respiratory distress, Tachycardia, Anorexia, Hematemesis, Depression, Acute in... ORPHA:707
Sotos Syndrome
Aggressive behavior, Cryptorchidism, Small cell lung carcinoma, Hydrocele testis, Attention defic... ORPHA:821
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv... ORPHA:466943
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia OMIM:273395
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness ORPHA:35069
Rodrigues Blindness
Nasal flaring OMIM:268320
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Congestive heart failure, Myocarditis, Irritabilit... ORPHA:533
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
White-Sutton Syndrome
Myopia, Mild myopia, Hypermetropia, Abnormality of visual evoked potentials, Visual impairment OMIM:616364
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
8Q24.3 Microdeletion Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Hyperactivity, Ectopic posterior pituitary, Ab... ORPHA:508488
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309256
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Micro Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Rubinstein-Taybi Syndrome 1
Respiratory distress, Short attention span, Hyperactivity, Impulsivity, Premature thelarche, Resp... OMIM:180849
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309263
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cryptorchidism, Dyspnea, Respiratory failure, Breast aplasia ORPHA:2554
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Car... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Car... ORPHA:353277
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism, Pulmonary hypopl... ORPHA:798
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Rhinitis, H... OMIM:305100
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79430
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Ectopic thyroid, Hypothyroidism ORPHA:3206
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Adrenal calcification, Retinal hemorrhage, Irrit... ORPHA:51608
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Pulmonary artery stenosis, Co... ORPHA:2255
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... ORPHA:79404
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Respiratory failu... ORPHA:2556
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Biliary hyperplasia, Cryptorchidism, Pulmonary hypoplasia, Cholelithiasis, ... ORPHA:83617
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309271
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Congestive heart failure OMIM:617156
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Total anomalous pulmonary venous return, Pulmonic ... OMIM:306955
Isolated Arrhinia
Respiratory distress ORPHA:1134
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmo... ORPHA:3404
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Abnormal circulating thyroid hormone concentration, Cyst of the ductus chol... ORPHA:480880
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
Multiple Osteochondromas
Pneumothorax, Dysphagia, Hemothorax ORPHA:321
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Cockayne Syndrome B
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia OMIM:216400
Pmm2-Cdg
Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elevated circ... ORPHA:79318
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646

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 Crhr1

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 Crhr1.

No publications found that use IMPC mice or data for Crhr1.

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
Crhr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Crhr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Crhr1tm123(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Crhr1tm123(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Crhr1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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