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

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 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
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Myopia 22, Autosomal Dominant
Visual impairment, Myopia, Reduced visual acuity OMIM:615420
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Anxiety, Deficit in phonologic short-term memory, Emotional lability, Depre... ORPHA:280397
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Parathyroid adenoma, Pneumothorax, Pulmonary sequestration ORPHA:122
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Memory impairment, Mental deterioration, Apathy, Respiratory distress, Neuromuscular dysphagia, D... ORPHA:240085
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Choking e... ORPHA:60032
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Bardet-Biedl Syndrome 16
Cognitive impairment, Bronchiolitis, Recurrent respiratory infections, Respiratory distress, Hypo... OMIM:615993
Geniospasm 1
Anxiety OMIM:190100
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Myocardial infarction, Abnormal onset of bleeding, Increased serum serotonin,... ORPHA:3325
Hypophosphatasia
Emphysema, Respiratory insufficiency, Irritability ORPHA:436
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Acth-Independent Macronodular Adrenal Hyperplasia
Bruising susceptibility, Macronodular adrenal hyperplasia, Anxiety, Mental deterioration, Primary... OMIM:219080
Optic Atrophy 1
Central scotoma, Visual impairment, Abnormal amplitude of pattern reversal visual evoked potentia... OMIM:165500
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Choroideremia
Myopia, Abnormality of vision, Progressive visual loss, Nyctalopia, Visual impairment ORPHA:180
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Gaucher Disease Type 2
Cardiac arrest, Abnormal pattern of respiration, Cough, Recurrent respiratory infections, Dysphag... ORPHA:77260
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Reduced visual acuity OMIM:618195
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... OMIM:254210
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Irritability, Respiratory distress ORPHA:238329
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... OMIM:610600
Pick Disease Of Brain
Disinhibition, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Polyphagia, Fron... OMIM:172700
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Hypertension, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Frontotemporal Dementia
Disinhibition, Inappropriate laughter, Apathy, Irritability, Inappropriate sexual behavior, Polyp... OMIM:600274
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dyspnea, Stridor, Upper airway obstructio... ORPHA:97285
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Cough, Dyspnea, Neoplasm of the lung, Stridor, Upper airway obstruc... ORPHA:142
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Anxiety, Dementia, Mal... ORPHA:411590
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Polydipsia, Adrenal hyperpla... ORPHA:403
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cognitive impairment, Aggressive behavior OMIM:237310
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... OMIM:605809
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Crackles, Tachypnea, Cong... OMIM:610978
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Increased circulating procalci... ORPHA:36238
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... OMIM:245590
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Motor deterioration, Respiratory insufficiency due to m... ORPHA:254875
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cognitive impairment, Memory impairment, Anxiety, Dementia, Motor deterioration, Bradyphrenia, Ap... ORPHA:136
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Aplasia of the thymus, Recurrent bronchopulmonary... OMIM:242700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Abnormal left ventricular function, Arrhythmia, Abnormal EKG, Abnormal... ORPHA:45452
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Airway obstruction, Pleural effusion, Cough, Dyspnea, ... ORPHA:36412
Pigmented Nodular Adrenocortical Disease, Primary, 4
Bruising susceptibility, Primary hypercortisolism, Emotional lability, Hypertension, Diabetes mel... OMIM:615830
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Memory impairment, Inertia, Anxiety, Dementia, Inappropriate behavior, Motor deterioration, Apath... ORPHA:412066
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556037
Choanal Atresia
Choking episodes, Tracheomalacia, Inappropriate crying, Abnormal nasal mucus secretion, Recurrent... ORPHA:137914
Fabry Disease
Cognitive impairment, Diabetes insipidus, Bundle branch block, Telangiectasia of the skin, Hypert... ORPHA:324
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Asthma, Bronchiectasis, Pulmonary bulla, Recurrent lower respiratory tract in... OMIM:619632
Stargardt Disease
Central scotoma, Color vision defect, Abnormality of visual evoked potentials, Nyctalopia, Reduce... ORPHA:827
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:404
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Dysphagia, Respiratory distress, Respiratory... OMIM:614399
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Adrenal hyperplasia OMIM:103900
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Prolonged QT interval, Hypertension, Polyd... ORPHA:251274
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Malaria
Cognitive impairment, Respiratory distress ORPHA:673
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Depression, Decreased circula... OMIM:615954
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556030
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound, Crackles,... ORPHA:1302
Progressive Supranuclear Palsy-Corticobasal Syndrome
Memory impairment, Mental deterioration, Dysphagia, Respiratory distress ORPHA:240103
Myopathy And Diabetes Mellitus
Dementia, Type I diabetes mellitus, Respiratory distress ORPHA:2596
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Dyspnea, Respi... ORPHA:178320
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Wheezing, Abnormal pulmonary interstitial morphology, Pulmo... ORPHA:2302
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Decreased DLCO, ... OMIM:616414
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Cardiac arrest, Tachypnea, Respiratory failure, Respiratory tract infection... ORPHA:70587
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Restrictive ventilatory defect, Cognitive impairment, Gastrointestinal he... ORPHA:538
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Succinic Acidemia
Respiratory distress OMIM:600335
Pigmented Nodular Adrenocortical Disease, Primary, 2
Bruising susceptibility, Anxiety, Mental deterioration, Primary hypercortisolism, Emotional labil... OMIM:610475
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Pleural effusion, Cough, Pulmonic stenosis, Pulmonary arterial hyperten... ORPHA:2414
Acquired Methemoglobinemia
Hypoxemia, Arrhythmia, Anxiety, Dyspnea, Palpitations, Respiratory distress, Syncope, Tachycardia ORPHA:464453
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Adrenal hyperplasia, Pulmonary arterial hypertension, Hyper... ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Slc35A1-Cdg
Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Abnormal bleeding, Prolonged bl... ORPHA:238459
Primary Pigmented Nodular Adrenocortical Disease
Bruising susceptibility, Cognitive impairment, Memory impairment, Increased urinary cortisol leve... ORPHA:189439
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Bruising susceptibility, Cognitive impairment, Memory impairment, Macronodular adrenal hyperplasi... ORPHA:189427
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia OMIM:613677
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Asthma ORPHA:634
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Respiratory failure, Pleural effusion, Dyspnea, Produc... ORPHA:31204
Meier-Gorlin Syndrome 4
Emphysema, Cryptorchidism, Breast hypoplasia OMIM:613804
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Sarcoidosis, Susceptibility To, 1
Emphysema, Abnormal salivary gland morphology, Restrictive ventilatory defect, Hypoxemia, Elevate... OMIM:181000
Pigmented Nodular Adrenocortical Disease, Primary, 1
Bruising susceptibility, Decreased circulating dehydroepiandrosterone concentration, Anxiety, Inc... OMIM:610489
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Abnormal fear/anxiety-related behavior, Aggressive behavior, Pseudobulbar para... ORPHA:208441
Perry Syndrome
Suicidal ideation, Disinhibition, Anxiety, Frontotemporal dementia, Inappropriate behavior, Respi... OMIM:168605
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Anxiety, Emotional lability, Respiratory distress, Cerebral ischemia ORPHA:927
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress ORPHA:91130
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Recurrent bronchitis, Recur... ORPHA:1572
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Primary Unilateral Adrenal Hyperplasia
Palpitations, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin ... ORPHA:231580
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Adrenocorticotropic hormone excess, Primary adrenal insuffici... ORPHA:90793
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f... OMIM:160900
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Abnormality of the thyroid gland, Abnormal pulmonary interstitial mo... ORPHA:209905
Childhood Disintegrative Disorder
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... ORPHA:168782
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respiratory distres... ORPHA:91359
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress ORPHA:26792
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections, Supravalvular aortic stenosis OMIM:219100
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Aortic valve stenosis, Pulmonary carcinoid tumor, Congestive heart failure, Abnormalit... ORPHA:363618
Nipah Virus Disease
Recurrent pharyngitis, Hypotension, Cough, Respiratory distress ORPHA:99825
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Loeys-Dietz Syndrome 4
Emphysema, Bruising susceptibility, Pneumothorax OMIM:614816
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Choking episodes, Aspiration, Cough, Dyspnea, Recurrent ... ORPHA:2004
Folinic Acid-Responsive Seizures
Apnea, Irritability, Respiratory distress ORPHA:79097
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Unhappy demeanor, Anxiety, Anhedonia, Impairment in pers... ORPHA:96369
Insulinoma
Hyperinsulinemia, Anxiety, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Neoplas... ORPHA:97279
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Canavan Disease
Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:141
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Anxiety, Increased... ORPHA:1501
Meier-Gorlin Syndrome 6
Emphysema, Delayed puberty, Cryptorchidism, Recurrent respiratory infections, Decreased response ... OMIM:616835
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Stridor, Dysphagia, Respira... OMIM:211530
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Respiratory insufficiency, Cognitive impairment, Respiratory distress ORPHA:1145
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia OMIM:616733
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Oromandibular Dystonia
Depression, Dysphagia, Respiratory distress ORPHA:93958
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Congenital hypothyroidism, Decreased circulating T4 level, Elevated circulating thyr... ORPHA:226313
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Pulmonary carcinoid tumor, Asthma, Cardiogenic shock, Abnormal pu... ORPHA:97287
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:201910
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Abnormal capillary physiology, Upper airway obstruction, Respiratory distress ORPHA:100057
Night Blindness, Congenital Stationary, Type 1A
High myopia, Hemeralopia, Congenital stationary night blindness, Myopia OMIM:310500
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrh... OMIM:130050
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Chitayat Syndrome
Recurrent respiratory infections, Respiratory distress, Tracheomalacia, Abnormal pulmonary inters... OMIM:617180
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Tac... OMIM:265120
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Night Blindness, Congenital Stationary, Type 1B
Nyctalopia, Hemeralopia, Congenital stationary night blindness, Myopia OMIM:257270
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Congestive heart failure, Supravalvular aortic stenosis, Peripher... ORPHA:90349
Sarcoidosis
Hypothyroidism, Diabetes insipidus, Abnormality of the adrenal glands, Emphysema, Arrhythmia, Abn... ORPHA:797
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Pulmonary artery stenosis, Pulmonary hypoplasia OMIM:613177
Neonatal Marfan Syndrome
Emphysema, Hypoxemia, Mitral regurgitation, Abnormal echocardiogram, Heart murmur, Neonatal respi... ORPHA:284979
Inhalational Anthrax
Hypotension, Dyspnea, Respiratory distress, Abnormal sweat gland morphology, Internal hemorrhage ORPHA:247257
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Dysphagia, Interstitial emphysema, Bronchiectasis OMIM:619708
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Abnormal aggressive, impulsive or violent behavior, Aggressive behavior... ORPHA:3077
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Primary Dystonia, Dyt4 Type
Dementia, Dysphagia, Respiratory distress ORPHA:98805
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Pulmonary hemorrhage, Ischemic stroke, Cough, Myocardial infarction, Dyspne... ORPHA:2038
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Cushing Disease
Suicidal ideation, Pituitary corticotropic cell adenoma, Bruising susceptibility, Capillary fragi... ORPHA:96253
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Holocarboxylase Synthetase Deficiency
Irritability, Tachypnea, Respiratory distress ORPHA:79242
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Elevated jugular venous pressure... ORPHA:1329
Lujo Hemorrhagic Fever
Nonproductive cough, Subconjunctival hemorrhage, Ecchymosis, Purpura, Anxiety, Crackles, Mental d... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress OMIM:615042
Meier-Gorlin Syndrome 1
Emphysema, Cryptorchidism, Respiratory distress, Breast hypoplasia OMIM:224690
Spinocerebellar Ataxia, X-Linked 3
Dementia, Episodic respiratory distress, Recurrent respiratory infections, Episodic hypoventilati... OMIM:301790
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Cough, Respiratory distress, Dyspnea ORPHA:86812
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Portal hypertension, Abnormal breath sound, Crackles, Abnormal pl... ORPHA:210136
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Inappropriate crying, Episodic respiratory distress, S... ORPHA:141083
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Stt3B-Cdg
Cryptorchidism, Respiratory distress ORPHA:370924
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Portal hypertension, Bile duct proliferation, Respiratory failure, Tachypnea, Cough, R... OMIM:613658
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Abnormality of visual evoked potentials, Photo... ORPHA:52368
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Respiratory distress OMIM:615597
Keutel Syndrome
Emphysema, Sinusitis, Airway obstruction, Pulmonary artery hypoplasia, Peripheral pulmonary arter... OMIM:245150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Decreased circulating cortisol level, Abnormal circulating androgen level, Macroorchid... ORPHA:90790
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Dyspnea, Irritability, Respiratory distress, Tach... ORPHA:348
Gaucher Disease, Perinatal Lethal
Petechiae, Apathy, Progressive neurologic deterioration, Dysphagia, Respiratory distress, Apnea, ... OMIM:608013
Tularemia
Pneumonia, Pleural effusion, Cough, Respiratory distress, Tachycardia ORPHA:3392
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Sleep apnea, Respiratory insufficiency, Pulmonary arterial hyperte... ORPHA:98915
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Panic attack, Pancreatic endocrine tumor, Increased circulating androg... ORPHA:99889
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Congestive heart failure, Tachypnea, Respiratory failu... ORPHA:454836
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Tetanus
Tachypnea, Hypertension, Dysphagia, Respiratory distress, Bradycardia, Tachycardia ORPHA:3299
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs, Cryptorchidism ORPHA:289
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress ORPHA:89844
Infantile Krabbe Disease
Psychomotor deterioration, Respiratory failure, Inappropriate crying, Mental deterioration, Irrit... ORPHA:206436
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Respiratory failure, Mental deterioration, Hype... ORPHA:70474
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thickening, Crackles, Respirat... ORPHA:79128
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Aspiration, Arrhythmia, Oral-pharyngeal dysphagia, Aggressive behavior, Emotiona... ORPHA:2131
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Hypotension, Dyspnea, Hypertension, Respiratory di... ORPHA:330021
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Progressive visual loss, Constriction of peripheral visu... ORPHA:1215
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, In... ORPHA:90060
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Microlissencephaly-Micromelia Syndrome
Abnormal calcium-phosphate regulating hormone level, Hypoparathyroidism, Respiratory distress ORPHA:50810
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Congenital Enterovirus Infection
Myocarditis, Hypotension, Pleural effusion, Irritability, Cardiomyopathy, Respiratory distress, A... ORPHA:292
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Self-injurious behavior, Anxiety, Respiratory failure, Parathyroi... ORPHA:805
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
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Dyspnea, Orthopnea, Recurrent re... ORPHA:75249
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Irritability, Respiratory distress ORPHA:544503
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Hypoxemia, Shock, Respiratory failure, Hypotension, Dyspnea, Va... ORPHA:70578
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Shortened PR interval, Left ventricular outfl... ORPHA:308552
Cocaine Intoxication
Prolonged QRS complex, Hypovolemia, Diffuse alveolar hemorrhage, Tachypnea, Hypotension, Cough, I... ORPHA:90068
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cognitive impairment, Shortened PR interval, Sleep apnea, Respiratory failure, Hypertrophic cardi... ORPHA:365
Moebius Syndrome
Hypogonadotropic hypogonadism, Dysphagia, Respiratory distress, Decreased testicular size OMIM:157900
Scimitar Syndrome
Bronchogenic cyst, Pulmonary artery hypoplasia, Congestive heart failure, Left-to-right shunt, Pa... ORPHA:185
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Congenital Myasthenic Syndrome
Choking episodes, Central sleep apnea, Episodic respiratory distress, Recurrent respiratory infec... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Choking episodes, Central sleep apnea, Episodic respiratory distress, Recurrent respiratory infec... ORPHA:98914
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary ateri... OMIM:178600
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism, Pulmonary arterial hypertension,... ORPHA:2519
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss OMIM:125310
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary insufficiency, Pulmonary artery aneurysm, Pulmonary artery dilatation, Brady... OMIM:614437
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Unilateral cryptorchidism, Bilateral cryptorchidism, Respiratory distress OMIM:300219
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal circulating t... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Porphyria Due To Ala Dehydratase Deficiency
Anxiety, Apathy, Respiratory insufficiency, Depression, Abnormal fear/anxiety-related behavior, V... ORPHA:100924
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress OMIM:608799
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Testicular microlithiasis, Pleural thickenin... ORPHA:60025
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress ORPHA:79312
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Delayed puberty, Elevated circulating luteinizing hormone level, A... ORPHA:90796
Odontochondrodysplasia 1
Recurrent respiratory infections, Respiratory distress, Pulmonary hypoplasia OMIM:184260
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis, Adrenal gland agenesis OMIM:611812
Marfan Syndrome
Emphysema, Aortic regurgitation, Congestive heart failure, Pulmonary artery dilatation, Pneumotho... OMIM:154700
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Recurrent respiratory infections, Hear... ORPHA:3309
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Hypertension, Hematemesis, Intracranial hemorrhage, Pulmonary edema, ... ORPHA:340
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Dilated cardiomyopathy, Memory impairment, Congestive heart failure, Asth... ORPHA:3260
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Autosomal Dominant Cutis Laxa
Emphysema, Bronchiolitis, Aortic regurgitation, Congestive heart failure, Peripheral pulmonary ar... ORPHA:90348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Right bundle branch block, Atrial fibrillation... ORPHA:99106
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Congestive heart failure ORPHA:558
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Arrhythmia,... ORPHA:26793
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials, High myopia OMIM:614457
Esophageal Atresia
Restrictive ventilatory defect, Aspiration, Laryngotracheomalacia, Episodic respiratory distress,... ORPHA:1199
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia OMIM:219721
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Absent gallbladder, Respiratory failure, Transient ischemic attack, Unilateral lung ag... ORPHA:500150
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral visual impairment, Abnormality of visual evoked potentials, Hypermetropia, Myopia OMIM:616875
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Abnormal amplitude of flash visual evoked potentials, Myopia, Blindness, Abnormality... ORPHA:168491
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis ORPHA:96181
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Dyspnea, Pulmonary arterial hy... ORPHA:363705
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Abnormal response to ACTH stimulation test, Decreased circula... ORPHA:95699
Cryptococcosis
Pneumonia, Memory impairment, Mental deterioration, Pleural effusion, Cough, Dyspnea, Respiratory... ORPHA:1546
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Hypoxemia, Abnormal left... ORPHA:97292
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Gastrointestinal hemorrhage, Abnormal pleura morphology, Cough, S... ORPHA:537
Friedreich Ataxia
Abnormality of visual evoked potentials, Visual field defect, Visual impairment, Reduced visual a... OMIM:229300
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Ecchymosis, Tachypnea, Hypotension, Respiratory tract infection, Myocarditi... ORPHA:36234
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Ethylene Glycol Poisoning
Congestive heart failure, Tachypnea, Hypotension, Abnormal pattern of respiration, Episodic respi... ORPHA:31826
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second he... ORPHA:99104
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Anxiety, Inappropriate behavior, Abnormal fear/anxiety-related behavior ORPHA:309246
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:202650
Diaphanospondylodysostosis
Respiratory insufficiency, Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:608022
Viss Syndrome
Emphysema, Hypothyroidism, Bruising susceptibility, Asthma, Pulmonary artery aneurysm, Dyspnea, P... OMIM:619472
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Congestive heart failure, Respiratory distress, Resp... ORPHA:367
Mogs-Cdg
Hypoventilation, Hypothyroidism, Inappropriate antidiuretic hormone secretion, Respiratory distre... ORPHA:79330
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Cough, Dyspnea, Pulmonary arterial hypertension, C... ORPHA:228116
Late-Infantile/Juvenile Krabbe Disease
Blindness, Abnormality of visual evoked potentials, Visual loss, Visual impairment ORPHA:206443
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Respiratory distress ORPHA:329178
Gitelman Syndrome
Hashimoto thyroiditis, Neoplasm of the pancreas, Ventricular fibrillation, Prolonged QT interval,... ORPHA:358
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Congestive heart fai... ORPHA:70591
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79431
Hereditary Angioedema Type 1
Hypotension, Dyspnea, Inspiratory stridor, Dysphagia, Respiratory distress ORPHA:100050
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Respiratory distress OMIM:619383
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Respiratory distress ORPHA:438216
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hy... ORPHA:275766
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Aortic Arch Interruption
Aortic regurgitation, Aortopulmonary window, Congestive heart failure, Systolic heart murmur, Sho... ORPHA:2299
Familial Chylomicronemia Syndrome
Memory impairment, Pulmonary embolism, Dementia, Diabetes mellitus, Depression, Abnormal emotion/... ORPHA:444490
Adnp Syndrome
Recurrent upper respiratory tract infections, Aspiration, Cryptorchidism, Anxiety, Oral-pharyngea... ORPHA:404448
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy, Recurrent respiratory... OMIM:617303
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Anxiety, Recurrent ... ORPHA:177907
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Restrictive ventilatory defect, Aspiratio... OMIM:164310
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Ecchymosis, Emotional lability, Hypertension, Pituitary adenoma, Purpura... OMIM:219090
Q Fever
Pneumonia, Abnormal left ventricular function, Myocarditis, Pleural effusion, Cough, Vasculitis, ... ORPHA:781
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Cryptorchidism, Cardiomyopathy, Respiratory distress, Neonatal respiratory distress OMIM:217980
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy... OMIM:220110
Japanese Encephalitis
Cognitive impairment, Irregular respiration, Abnormal pattern of respiration, Respiratory paralys... ORPHA:79139
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure, Respiratory failure, Myocarditi... ORPHA:3342
Eisenmenger Syndrome
Right-to-left shunt, Hypoxemia, Left-to-right shunt, Increased pulmonary vascular resistance, Rig... ORPHA:97214
Triosephosphate Isomerase Deficiency
Cholelithiasis, Congestive heart failure, Respiratory failure, Respiratory insufficiency due to m... OMIM:615512
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Memory impairment, Pulmonary embolism, Dementia, Mental deterioration, Pu... ORPHA:79282
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia OMIM:231680
Kniest Dysplasia
Tracheomalacia, Respiratory distress OMIM:156550
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Pulmonary arterial hypertension, Respiratory distress, Annular pancreas, Aort... ORPHA:210122
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Gi... ORPHA:729
Congenital Tracheal Stenosis
Dyspnea, Upper airway obstruction, Neonatal asphyxia, Pulmonary artery atresia, Respiratory distr... ORPHA:141127
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Respiratory failure, Pneumothorax, Respiratory distress, Maternal diabetes, Pulmo... OMIM:266910
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials, Myopia ORPHA:480898
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Airway obstruction, Congestive heart failure, Hypertrophic cardiomyopathy, Pulmonary arterial hyp... ORPHA:505248
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pulmonary fibrosis, Respiratory distress OMIM:612852
Mgat2-Cdg
Arrhythmia, Recurrent upper and lower respiratory tract infections, Hypoplastic nipples, Reflex a... ORPHA:79329
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Purpura, Hypotension, Dyspnea, Abnormal mucoci... ORPHA:90051
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Gastrointestinal hemorrhage, Nail bed telangiectasia, Telangiectasia of the skin, Gast... OMIM:187300
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Respiratory insu... ORPHA:333
Coccidioidomycosis
Vasospasm, Cognitive impairment, Pneumonia, Exudative pleural effusion, Cough, Vasculitis, Respir... ORPHA:228123
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Unilateral breast hypoplasia, Abnormality of thyroid physiology... OMIM:300968
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Hypotension, Myocarditis, C... ORPHA:31824
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Respiratory distress OMIM:612863
Congenital Disorder Of Deglycosylation 1
Impaired oropharyngeal swallow response, Impaired oral bolus formation, Oral-pharyngeal dysphagia... OMIM:615273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Pneumonia, Interstitial pneumonitis, Hyperthyroidism, Recurrent respiratory infec... ORPHA:37042
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Portal hypertension, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Conges... ORPHA:774
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Auriculocondylar Syndrome
Obstructive sleep apnea, Snoring, Respiratory distress ORPHA:137888
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hypertension, Respiratory distress ORPHA:1555
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Self-injurious behavior, Anxiety, Aggressive behavior, Dysphagia, Nasal flaring ORPHA:466943
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Myocardial infarction, Respiratory distress OMIM:274150
Rodrigues Blindness
Nasal flaring OMIM:268320
Ramos-Arroyo Syndrome
Self-mutilation, Respiratory distress ORPHA:1051
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dyspnea, Episodic respiratory distress, Hype... ORPHA:255210
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of visual evoked potentials ORPHA:35069
Listeriosis
Pneumonia, Congestive heart failure, Respiratory failure, Myocarditis, Arteritis, Irritability, R... ORPHA:533
Sotos Syndrome
Hypothyroidism, Pulmonary bleb, Cryptorchidism, Anxiety, Aggressive behavior, Small cell lung car... ORPHA:821
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Aggressive behavior, Recurrent respiratory infections, Respiratory d... ORPHA:17
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mitral regurgitat... ORPHA:99125
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pn... ORPHA:536467
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Biotinidase Deficiency
Apnea, Hyperventilation, Respiratory distress ORPHA:79241
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress ORPHA:93259
White-Sutton Syndrome
Mild myopia, Hypermetropia, Myopia, Abnormality of visual evoked potentials, Visual impairment OMIM:616364
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Respiratory distress OMIM:123790
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral visual impairment, Abnormality of visual evoked potentials, Visual loss OMIM:203700
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress ORPHA:93260
Plague
Arrhythmia, Anxiety, Hypotension, Hematemesis, Respiratory distress, Tachycardia, Depression, Abn... ORPHA:707
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309256
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, Pulmonary hemorrhage, First degree at... ORPHA:509
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309263
Tetraamelia Syndrome 1
Adrenal gland agenesis, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Hypoplastic nipples, Rhinitis, Re... OMIM:305100
Kasabach-Merritt Syndrome
Petechiae, Respiratory distress, Prolonged prothrombin time, Purpura, Hypopnea ORPHA:2330
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79430
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Anxiety, Oral-pharyngeal dysphagia... ORPHA:95455
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Respiratory failure, Dyspnea, Breast aplasia, Respiratory distress ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Pneumonia, Respiratory failure, Dyspnea, Stridor, Pneumothorax, Respirato... ORPHA:79404
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Tracheomalacia, Neonatal respiratory distress, Stri... OMIM:114290
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid, Asthma, Respiratory distress, Apnea ORPHA:3206
Osteoglophonic Dysplasia
Cryptorchidism, Respiratory distress OMIM:166250
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Retinal hemorrhage, Pulmonary arterial hypertension, Pancr... ORPHA:51608
Schinzel-Giedion Syndrome
Recurrent pneumonia, Central hypothyroidism, Dysphagia, Respiratory distress, Annular pancreas, S... ORPHA:798
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Self-injurious behavior, Cryptorchidism, Panic attack, Aggressive behavior, Pu... ORPHA:353281
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, Respiratory failure, Hypertrophic cardi... ORPHA:2556
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Pulmonic stenosis, Aplasia/Hypoplasia of the gallbladder, Congenital hypot... ORPHA:2255
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory acidosis, Recurrent respiratory infections, Respiratory distress, Neonatal respirator... OMIM:614748
Doors Syndrome
Adrenal hyperplasia, Aspiration pneumonia, Respiratory distress, Congenital hypothyroidism ORPHA:79500
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Gastrointestinal telangiectasia, Hypertension, Hematemesis, Nasal mucosa... OMIM:600376
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cryptorchidism, Pancreatic hypoplasia, Biliary hyperplasia, Respiratory distress,... ORPHA:83617
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Arrhythmia, Cryptorchidism, Obstructive sleep apnea... OMIM:180849
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309271
Isolated Arrhinia
Respiratory distress ORPHA:1134
Alström Syndrome
Hyoplasia of the Leydig cells, Abnormal coronary artery physiology, Cognitive impairment, Decreas... ORPHA:64
Arboleda-Tham Syndrome
Neonatal respiratory distress, Respiratory distress, Pulmonic stenosis OMIM:616268
Ulbright-Hodes Syndrome
Cryptorchidism, Respiratory failure, Pneumothorax, Respiratory distress, Maternal diabetes, Pulmo... ORPHA:3404
Cleidocranial Dysplasia
Neonatal respiratory distress, Respiratory distress OMIM:119600
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Pulmonic stenosis, Mitral sten... OMIM:306955
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Recurrent upper and lower respiratory tract infections, Hypoplastic nipples, Cyst of the ductus c... ORPHA:480880
8Q24.3 Microdeletion Syndrome
Low frustration tolerance, Gastrointestinal hemorrhage, Dysphagia, Respiratory distress, Abnormal... ORPHA:508488
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Cockayne Syndrome B
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Pmm2-Cdg
Hypogonadotropic hypogonadism, Hyperinsulinemia, Hypertrophic cardiomyopathy, Elevated circulatin... ORPHA:79318
Multiple Osteochondromas
Pneumothorax, Dysphagia, Hemothorax ORPHA:321
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal prol... ORPHA:3385
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Respiratory distress 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

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

Subscribe to newsletter