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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
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, ... ORPHA:70589
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Dyspne... ORPHA:60033
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Dyspnea, Abnormal pul... OMIM:612387
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration ORPHA:122
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Depression, Increased circulating cortisol level, Bruising susceptibility, ... OMIM:219080
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypersensiti... ORPHA:79127
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... ORPHA:50251
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Alpha-1-Antitrypsin Deficiency
Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyper... ORPHA:403
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Confusion, Shock, Pleural effusion, Tachypnea, Pneu... ORPHA:36238
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Cardiac arrest, Recurrent respiratory infe... ORPHA:77260
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Hypogonadism, Cognitive impairment, Recurrent respiratory in... OMIM:615993
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Heparin-Induced Thrombocytopenia
Increased serum serotonin, Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Myo... ORPHA:3325
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy OMIM:616341
Hypophosphatasia
Emphysema, Irritability ORPHA:436
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased circulating cortisol level, Bruising susceptibility, Primary hypercortisoli... OMIM:615830
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Anaplastic Thyroid Carcinoma
Dyspnea, Goiter, Respiratory distress, Dysphagia, Nodular goiter, Anaplastic thyroid carcinoma, N... ORPHA:142
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, In... ORPHA:251274
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea, Dy... ORPHA:97285
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Irritability ORPHA:238329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Addictive alcohol... ORPHA:178320
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Dysphagia, Congestive heart failure OMIM:619751
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma OMIM:618913
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, Bro... OMIM:242700
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Portal hypertension, Cryptorchidism, Pulmonary fibrosis OMIM:620365
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... OMIM:615954
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Pulmonary arterial hyperte... ORPHA:70588
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... ORPHA:404
Fabry Disease
Atrioventricular block, Depression, Congestive heart failure, Emphysema, Hypertrophic cardiomyopa... ORPHA:324
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... ORPHA:3077
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Adrenal hyperpla... ORPHA:369929
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Exertiona... OMIM:178500
Nipah Virus Disease
Respiratory distress, Hypotension, Anorexia, Recurrent pharyngitis ORPHA:99825
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... OMIM:245590
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Respiratory ... ORPHA:209905
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Cerebral ischemia, Emotional lability, Cognitive impairment, Del... ORPHA:927
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Pleural effusion, Emphysema, Small vessel vasculitis ORPHA:36412
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hype... ORPHA:231580
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Abnormality of the adrenal glands, ... ORPHA:31204
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Myopathy And Diabetes Mellitus
Respiratory distress, Delirium, Type I diabetes mellitus, Dementia ORPHA:2596
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Mental deterioration, Memory impairment, Dysphagia ORPHA:240103
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Respiratory distress... OMIM:610978
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphysema, Pleural effusion, Pulmon... OMIM:181000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Mania, Memory impairment, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine... ORPHA:189427
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Recurrent pneumonia, Dysphagia, Motor deterioration ORPHA:254875
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Respiratory distress, Hypogonadism, Obsessive-compulsive trait, F... OMIM:160900
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena... OMIM:201910
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,... ORPHA:538
Mercury Poisoning
Hypotension, Respiratory distress, Confusion, Interstitial pneumonitis, Anorexia, Dyspnea, Tachyc... ORPHA:330021
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556037
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Diabetes mellitus, Acute infectious pneumonia ORPHA:140896
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Cardiac arrest... ORPHA:70587
Inhalational Anthrax
Abnormal sweat gland morphology, Hypotension, Respiratory distress, Confusion, Internal hemorrhag... ORPHA:247257
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Dysphagia OMIM:614399
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage... ORPHA:238459
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pleural effusion, Pulmon... ORPHA:2414
Malaria
Respiratory distress, Cognitive impairment ORPHA:673
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Aggressive behavior, Tachypnea, Cognitive impairment, Anorexia OMIM:237310
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556030
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia, Cryptorchidism OMIM:613804
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Dysphagia, Hypertrophic cardiomyopathy OMIM:613561
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, ... ORPHA:97287
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Hypoplasia of ... OMIM:613177
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Mental deterioration, Type I diabetes mellitus, Dysphagia OMIM:620166
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Pneumothorax, Anorexia ORPHA:1302
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura... ORPHA:1572
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Emphysema, Mitral regurgitation, Abnormality of ... ORPHA:363618
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Tachycardia ORPHA:264675
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy OMIM:300580
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Exertional dyspnea, Dysphagia, Pulmonary fibrosis, Right bundle branc... ORPHA:254361
Succinic Acidemia
Respiratory distress OMIM:600335
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... ORPHA:226313
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Arteri... OMIM:130050
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Emphysema, Supravalvular aortic steno... OMIM:219100
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia OMIM:616733
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Irritability ORPHA:79097
Sarcoidosis
Abnormal pleura morphology, Arrhythmia, Heart block, Pleural effusion, Enlargement of parotid gla... ORPHA:797
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysphagia, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Cocaine Intoxication
Pulmonary edema, Tachypnea, Delirium, Tachycardia, Mania, Diffuse alveolar hemorrhage, Cerebral h... ORPHA:90068
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Irritability, Anorexia ORPHA:79242
Acquired Methemoglobinemia
Respiratory distress, Confusion, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia ORPHA:464453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Left ventricular diastolic dysfunction, Dysphagia OMIM:620375
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Tularemia
Pneumonia, Respiratory distress, Confusion, Pleural effusion, Tachycardia ORPHA:3392
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:115197
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Meier-Gorlin Syndrome 6
Emphysema, Decreased response to growth hormone stimulation test, Cryptorchidism, Delayed puberty... OMIM:616835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Anorexia ORPHA:79312
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Progressive neurologic deterioration OMIM:612075
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Bruising susceptibility OMIM:614816
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Pulmon... OMIM:611812
Choanal Atresia
Respiratory distress, Choking episodes, Recurrent respiratory infections ORPHA:137914
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia, Dementia ORPHA:98805
Oromandibular Dystonia
Respiratory distress, Bruxism, Depression, Dysphagia ORPHA:93958
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dyspnea, D... ORPHA:2357
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperpl... ORPHA:90790
Meier-Gorlin Syndrome 1
Respiratory distress, Breast hypoplasia, Emphysema, Cryptorchidism OMIM:224690
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Pituitary adenoma, Respiratory distress, Pheochromocytoma, P... ORPHA:805
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Cushing Disease
Memory impairment, Depression, Increased circulating cortisol level, Bruising susceptibility, Inc... ORPHA:96253
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Tetanus
Respiratory distress, Tachypnea, Dysphagia, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, S... ORPHA:90349
Lujo Hemorrhagic Fever
Mental deterioration, Hypotension, Atelectasis, Respiratory distress, Confusion, Shock, Excessive... ORPHA:319213
Neonatal Marfan Syndrome
Emphysema, Decreased testicular size, Tricuspid regurgitation, Mitral regurgitation, Heart murmur ORPHA:284979
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Increased urinary cortisol level... ORPHA:99889
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Bruising susceptibility, Abnormal fear-induced behavior, Increased circulating... OMIM:219090
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cognitive impairment, Cryptorchidism ORPHA:1145
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia ORPHA:89844
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Atelectasis, Bilateral cryptorchidism OMIM:300219
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Tachycardia, Shock, Palpitations, Pleural effusion, Ecchymosis, Pneumonia, Hypot... ORPHA:340
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid r... ORPHA:75249
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Attention deficit hyperactivity disorder, Hypertrophic cardiomyopathy, Recu... OMIM:619383
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Irritability ORPHA:544503
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Bile duct ... OMIM:613658
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Respiratory distress, Confusion, Hypertrophic cardiomyo... OMIM:212140
Laryngomalacia
Respiratory distress OMIM:150280
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... ORPHA:2038
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs, Cryptorchidism ORPHA:289
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Marfan Syndrome
Aortic regurgitation, Spontaneous pneumothorax, Pulmonary artery dilatation, Congestive heart fai... ORPHA:558
Moebius Syndrome
Respiratory distress, Decreased testicular size, Hypogonadotropic hypogonadism, Dysphagia OMIM:157900
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Dysph... OMIM:211530
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Hypogonadism, Arrhythm... ORPHA:254913
Alfadhel Syndrome
Aggressive behavior, Nasal flaring OMIM:620655
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Intercostal retractions, Right v... ORPHA:1329
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy ORPHA:86812
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Irritability, Intermittent hyperventilation, Apneic epi... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Pulmonary arterial hypertension, Exertional dyspnea, Recur... ORPHA:98915
Congenital Enterovirus Infection
Hypotension, Abnormal bleeding, Cardiomyopathy, Respiratory distress, Pleural effusion, Irritabil... ORPHA:292
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level ORPHA:96181
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Oral-pharyngeal dysphagia, Apnea, Cardiac ... ORPHA:2131
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Confusion, Episodi... ORPHA:31826
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Dysphagia, Progressive neurologic deterioration, Purpura,... OMIM:608013
Avian Influenza
Pneumonia, Congestive heart failure, Respiratory distress, Pleural effusion, Tachypnea, Pneumotho... ORPHA:454836
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Congestive heart failure, Respiratory distress, H... ORPHA:185
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology ORPHA:100057
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Respiratory distress, Cerebral hemorrhage, Dysphagia OMIM:620278
Stt3B-Cdg
Respiratory distress, Cryptorchidism ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism OMIM:615597
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Idiopathic Hypereosinophilic Syndrome
Memory impairment, Pulmonary embolism, Dilated cardiomyopathy, Dementia, Respiratory distress, Co... ORPHA:3260
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Abnormal circulating calcium-phosphate regulating hormone concentration, Hy... ORPHA:50810
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory distress, Hypertrophic cardiomyopathy, Transient ischemic at... ORPHA:365
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Heart murmur, Re... ORPHA:3309
Infantile Krabbe Disease
Mental deterioration, Respiratory distress, Irritability, Abnormal heart rate variability, Progre... ORPHA:206436
Marfan Syndrome
Aortic regurgitation, Pulmonary artery dilatation, Congestive heart failure, Emphysema, Tricuspid... OMIM:154700
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress OMIM:615042
Neuroblastoma
Elevated circulating catecholamine level, Abnormal bleeding, Respiratory distress, Irritability, ... ORPHA:635
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Pulmonary ... ORPHA:2519
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypn... ORPHA:26793
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Respiratory distress, Confusion, Shock, Respiratory tract infection, Ecch... ORPHA:36234
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Tricuspid regurgitation, Pulmo... OMIM:614437
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Transient ischemic attack, Ischemic stroke, Absent gallbladder, Unilateral lung agenes... ORPHA:500150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Q Fever
Pneumonia, Vasculitis, Respiratory distress, Pleural effusion, Anorexia, Myocarditis, Abnormal pu... ORPHA:781
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu... ORPHA:90348
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Emotional lability, Anorexia, Tachycardia, Purpura, Diffuse alveolar hemorrhag... ORPHA:99827
Viss Syndrome
Pulmonary artery aneurysm, Bruising susceptibility, Emphysema, Hypothyroidism, Pneumothorax, Pulm... OMIM:619472
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Respiratory distress, Abnormal pleura morphology, Dyspha... ORPHA:537
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiom... OMIM:261740
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Stereotypical hand wringing, Hypoplastic nipples, Arrhyt... ORPHA:79329
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Anorexia, Pulmonary edema, Cognitive impai... ORPHA:79139
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Respiratory distress, Decreased response to growth hormon... ORPHA:177907
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator... ORPHA:3348
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ... ORPHA:358
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Pulmonary edema, Hypothyroidism, Inappropriate anti... ORPHA:79330
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Systolic heart murmur, Right ventricular failure, Tr... ORPHA:99103
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Irregular respiration OMIM:604377
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Congenital Myasthenic Syndrome
Episodic respiratory distress, Choking episodes, Apneic episodes precipitated by illness, fatigue... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Choking episodes, Apneic episodes precipitated by illness, fatigue... ORPHA:98914
Esophageal Atresia
Bronchitis, Respiratory distress, Oral aversion, Episodic respiratory distress, Maternal diabetes... ORPHA:1199
Adnp Syndrome
Abnormal temper tantrums, Recurrent upper respiratory tract infections, Oral-pharyngeal dysphagia... ORPHA:404448
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Respiratory distres... ORPHA:363705
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... ORPHA:2299
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... ORPHA:97292
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Diabetes insipidus, Abnormal lung lobation... ORPHA:744
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia, Cryptorc... OMIM:607143
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress OMIM:250940
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Short attention span, Diminished ability to concen... OMIM:612863
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Cryptococcosis
Pneumonia, Mental deterioration, Memory impairment, Respiratory distress, Nodular pattern on pulm... ORPHA:1546
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR inte... ORPHA:308552
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy,... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Hereditary Angioedema Type 1
Respiratory distress, Hypotension, Dyspnea, Dysphagia ORPHA:100050
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Respiratory distress, Prolonged... OMIM:616271
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hypertrophic cardiomyopathy, Apnea, Short attention span, Aggressive behavi... ORPHA:17
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Portal hypertension, Prol... ORPHA:367
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Pulmonary arterial hypertension, Central apnea, Congestive heart failure OMIM:616482
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Confusion, Transient ischemic attack, Myocardial infarction OMIM:274150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Memory impairment, Pulmonary embolism, Subdural hemorrhage, Dilated cardiom... ORPHA:79282
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Diaphanospondylodysostosis
Respiratory distress, Pulmonary hypoplasia OMIM:608022
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Respiratory distress, Exudative pleural effusion, Cerebral isch... ORPHA:228123
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Annular pancreas, Respiratory distress, Absent gallbladder, Pulmonary arte... ORPHA:210122
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary ... ORPHA:333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Type I diabetes mellitus, Respiratory distress, Interstitial pneumonitis, Abnormality ... ORPHA:37042
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia OMIM:151210
Eisenmenger Syndrome
Elevated jugular venous pressure, Right ventricular failure, Tricuspid regurgitation, Palpitation... ORPHA:97214
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... ORPHA:3342
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Abnormality of thyroid physiology, Unilat... OMIM:300968
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, First degr... ORPHA:509
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Familial Chylomicronemia Syndrome
Memory impairment, Pulmonary embolism, Depression, Abnormal emotion, Dementia, Diabetes mellitus ORPHA:444490
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia OMIM:231680
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Respiratory distress, Impaired oropharyngeal swallow response, Recurre... OMIM:615273
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Cryptorchidism ORPHA:1555
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid regurgitat... ORPHA:505248
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Short attention span ORPHA:438216
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Cardiomyopathy OMIM:217980
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction abnormality, Episo... ORPHA:255210
Sotos Syndrome
Small cell lung carcinoma, Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity d... ORPHA:821
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Plague
Hypotension, Depression, Abnormal bleeding, Respiratory distress, Arrhythmia, Hematemesis, Acute ... ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Crypto... ORPHA:353281
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia OMIM:273395
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hy... ORPHA:536467
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Hypertrophic cardiomyopathy OMIM:220110
Kniest Dysplasia
Respiratory distress OMIM:156550
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism, Ovarian cyst OMIM:618188
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Petechiae, Bradycardia, Dyspnea, Tachycardia, Nasal flaring, Purpura ORPHA:90051
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Arrhythmia, Myoca... ORPHA:31824
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Respiratory distress, Irritability, Myocarditis, ... ORPHA:533
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Respiratory distress, Paroxysmal atrial fibrillation, Hypertrophic cardio... OMIM:164310
Achondroplasia
Respiratory distress, Pulmonary hypoplasia OMIM:100800
Ramos-Arroyo Syndrome
Respiratory distress, Self-mutilation ORPHA:1051
Triosephosphate Isomerase Deficiency
Respiratory distress, Cholelithiasis, Congestive heart failure OMIM:615512
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Paroxysmal dyspnea,... ORPHA:99125
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Abnormal lung lobation, Respiratory dis... ORPHA:508488
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Nasal fla... ORPHA:466943
Arboleda-Tham Syndrome
Recurrent respiratory infections, Bilateral cryptorchidism, Respiratory distress, Dysphagia, Recu... OMIM:616268
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia OMIM:613848
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Recurrent lower respiratory tract infections, Apnea, Hypopnea OMIM:618426
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Respiratory distress, Sho... OMIM:180849
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy OMIM:251110
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Abnormal lung lobation OMIM:236680
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea ORPHA:79241
Schinzel-Giedion Syndrome
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Respiratory distress, Streak ovary... ORPHA:798
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress, Petechiae, Prolonged prothrombin time, Purpura ORPHA:2330
Doors Syndrome
Respiratory distress, Congenital hypothyroidism, Adrenal hyperplasia, Aspiration pneumonia ORPHA:79500
Rodrigues Blindness
Nasal flaring OMIM:268320
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Generalized Arterial Calcification Of Infancy
Respiratory distress, Adrenal calcification, Left ventricular systolic dysfunction, Transient isc... ORPHA:51608
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Crypto... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Crypto... ORPHA:353277
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Respiratory distress, Pneumothorax, Bradycardia, Dyspnea ORPHA:79404
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... ORPHA:2556
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Aplasia/Hypoplastia of the eccrine sweat glands, Hypoplastic nipples, Absen... OMIM:305100
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Cryptorchidism, Breast aplasia ORPHA:2554
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery st... OMIM:615067
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Respiratory distress, Cryptorchidism, Biliary hyperplasia,... ORPHA:83617
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Respiratory distress, Mitral stenosis, Bilateral trilobe... OMIM:306955
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Stüve-Wiedemann Syndrome
Respiratory distress, Hypothyroidism, Apnea, Ectopic thyroid ORPHA:3206
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Depression, Oral-pharyngeal dysphagia, Respiratory distress, Anorexia ORPHA:95455
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Campomelic Dysplasia
Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t... OMIM:114290
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
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Respiratory distress, Hypoplastic nipples, Delayed puberty, Abnormal circulating ... ORPHA:480880
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Maternal diabetes, Pulmonary hypoplasia ORPHA:3404
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:614748
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Multiple Osteochondromas
Pneumothorax, Hemothorax, Dysphagia ORPHA:321
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... ORPHA:79318
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal grow... ORPHA:3385

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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