Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor... ORPHA:70589
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res... ORPHA:60033
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, E... OMIM:612387
Birt-Hogg-Dubé Syndrome
Pneumothorax, Emphysema, Pulmonary sequestration, Parathyroid adenoma, Medullary thyroid carcinoma ORPHA:122
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Decreased circulating ACTH concentration, Depression, Mental deterioration, Macronodul... OMIM:219080
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Respiratory tract infection, Br... ORPHA:79127
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, Dyspnea, Abnor... ORPHA:50251
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Dyspnea, Panacinar emphysema OMIM:613490
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse... OMIM:610921
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Pulmonary arterial hypertension ORPHA:1164
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hy... ORPHA:403
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Choking episodes, Abnormal lung morphology, Recurrent... ORPHA:60032
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Confusion... ORPHA:36238
Gaucher Disease Type 2
Respiratory distress, Cardiac arrest, Dysphagia, Abnormal pattern of respiration, Recurrent respi... ORPHA:77260
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Cognitive impairment, Hypogonadism, Recurrent respiratory in... OMIM:615993
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Depression, Memory impairment, Neuromuscular dysphagia, Mental deterioration ORPHA:240085
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Increased serum serotonin, Myocardial infarction, Abnormal... ORPHA:3325
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Decr... OMIM:610600
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Respiratory distress OMIM:616341
Irritability, Emphysema ORPHA:436
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Depression, Hypertension, Adrenal hyperplasia, Bruising susceptibility, Diabe... OMIM:615830
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Anaplastic Thyroid Carcinoma
Respiratory distress, Anaplastic thyroid carcinoma, Dyspnea, Neoplasm of the lung, Nodular goiter... ORPHA:142
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:254210
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Familial Hyperaldosteronism Type Iii
Polydipsia, Prolonged QT interval, Abnormal circulating renin, Hypertension, Glucocortocoid-insen... ORPHA:251274
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress OMIM:619466
Thyroid Lymphoma
Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia,... ORPHA:97285
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea OMIM:267450
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556037
Severe X-Linked Mitochondrial Encephalomyopathy
Irritability, Respiratory distress ORPHA:238329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:605809
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Addictive alcohol use,... ORPHA:178320
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Dysphagia, Pulmonary arterial hypertension, Respiratory distress OMIM:619751
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Fanconi Renotubular Syndrome 5
Hypertension, Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr... ORPHA:45452
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... OMIM:613642
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Aplasia of the thymus, Bro... OMIM:242700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Portal hypertension, Pulmonary fibrosis, Type I diabetes mellitus, Cryptorchidism OMIM:620365
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Hypertens... OMIM:615954
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ... ORPHA:3077
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Atelectasis, Maternal diabetes, Respiratory distress, Pulm... ORPHA:70588
Fabry Disease
Delayed puberty, Congestive heart failure, Anorexia, Emphysema, Diabetes insipidus, Angina pector... ORPHA:324
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypertension, Abnormal circulating renin, Pulmonary arterial hypertension, Adrenal hy... ORPHA:369929
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556030
Interstitial Lung Disease 2
Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Elevated bronchoalveolar lavage flu... OMIM:178500
Nipah Virus Disease
Anorexia, Recurrent pharyngitis, Hypotension, Respiratory distress ORPHA:99825
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia, Respir... OMIM:245590
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal pulmonary interstitial m... ORPHA:209905
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Respiratory distress, Emotional lability, Confusion, Cerebral ischemia, Cognitive impa... ORPHA:927
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary h... ORPHA:231580
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Pleural effusion, Emphysema, Dyspnea ORPHA:36412
Pneumothorax, Anorexia, Abnormality of the adrenal glands, Emphysema, Pleuritis, Respiratory dist... ORPHA:31204
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus, Delirium, Dementia ORPHA:2596
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia, Mental deterioration, Memory impairment ORPHA:240103
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr... ORPHA:189427
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Abnormal salivary... OMIM:181000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Dysphagia, Motor deterioration, Respiratory distress ORPHA:254875
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Myotonic Dystrophy 1
Obsessive-compulsive trait, Atrial flutter, Cholelithiasis, Respiratory distress, Atrial fibrilla... OMIM:160900
Congenital Tracheomalacia
Pneumothorax, Emphysema, Intercostal retractions, Dyspnea, Pulmonary arterial hypertension, Bronc... ORPHA:95430
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... OMIM:263000
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... ORPHA:538
Mercury Poisoning
Anorexia, Respiratory distress, Confusion, Hypertension, Dyspnea, Hypotension, Tachycardia, Inter... ORPHA:330021
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Diabetes mellitus, Dyspnea, Respiratory distress ORPHA:140896
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Confusion, Dyspnea, Hypotension, Internal ... ORPHA:247257
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Nasal flaring,... ORPHA:70587
Congenital Myopathy 10A, Severe Variant
Dysphagia, Respiratory distress OMIM:614399
Abnormal bleeding, Respiratory distress, Pneumonia, Prolonged bleeding time, Pulmonary hemorrhage... ORPHA:238459
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Pleural effusion, Pulmonary arterial hypertension... ORPHA:2414
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas... ORPHA:90793
Respiratory distress, Cognitive impairment ORPHA:673
N-Acetylglutamate Synthase Deficiency
Anorexia, Respiratory distress, Confusion, Cognitive impairment, Tachypnea, Aggressive behavior OMIM:237310
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism, Emphysema OMIM:613804
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Hypertrophic cardiomyopathy, Respiratory distress OMIM:613561
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Dyspnea, Mitral regurgitation, Bronchi... OMIM:123700
Bronchial Neuroendocrine Tumor
Anorexia, Abnormal pulmonary interstitial morphology, Dyspnea, Hypotension, Tricuspid regurgitati... ORPHA:97287
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Bronchitis, Emphysema ORPHA:60
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Emphysema, Adrenal hypoplasia, Hypoplasia of the thymus, Recurrent pneumonia, Pulmon... OMIM:613177
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla OMIM:619632
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Dysphagia, Mental deterioration, Respiratory distress OMIM:620166
Cryptogenic Organizing Pneumonia
Pneumothorax, Dyspnea, Anorexia, Respiratory distress ORPHA:1302
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Common Variable Immunodeficiency
Purpura, Emphysema, Vasculitis, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respir... ORPHA:1572
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Hypertension, Aortic valve stenosis, Pulmonary carcinoid tum... ORPHA:363618
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:91130
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress OMIM:300580
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Tachycardia, Tachypnea ORPHA:264675
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis ORPHA:411703
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis, Right bundle branch block, Bronchiolitis, Dysphagia, Pulmonary f... ORPHA:254361
Succinic Acidemia
Respiratory distress OMIM:600335
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress ORPHA:26792
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Respiratory distress... ORPHA:226313
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Arterial rupture, Spontaneous ... OMIM:130050
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Aortic regurgitation, Recurrent respiratory infections, Peripheral pulmonary artery st... OMIM:219100
Folinic Acid-Responsive Seizures
Irritability, Apnea, Respiratory distress ORPHA:79097
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia, Respiratory distress OMIM:616733
Enlarged lacrimal glands, Diabetes insipidus, Abnormal cardiac ventricular function, Dyspnea, Por... ORPHA:797
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia, Dysphagia OMIM:619708
Cocaine Intoxication
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Mania, A... ORPHA:90068
Holocarboxylase Synthetase Deficiency
Anorexia, Irritability, Tachypnea, Respiratory distress ORPHA:79242
Acquired Methemoglobinemia
Tachycardia, Respiratory distress, Confusion, Dyspnea, Arrhythmia, Syncope, Palpitations ORPHA:464453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Left ventricular diastolic dysfunction, Dysphagia, Respiratory distress OMIM:620375
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Exertional dyspnea, ... ORPHA:2302
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress ORPHA:596
Pneumonia, Respiratory distress, Confusion, Pleural effusion, Tachycardia ORPHA:3392
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Pulmonary edema, Left bundle branch block, Reduced left ventricular eje... OMIM:115197
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Emphysema, Recurrent resp... OMIM:616835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Cardiomyopathy, Respiratory distress ORPHA:79312
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Respiratory distress OMIM:612075
Loeys-Dietz Syndrome 4
Pneumothorax, Bruising susceptibility, Emphysema OMIM:614816
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Dyspnea, Elevated bronchoalve... OMIM:619611
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Choanal Atresia
Choking episodes, Recurrent respiratory infections, Respiratory distress ORPHA:137914
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia, Dementia ORPHA:98805
Oromandibular Dystonia
Depression, Bruxism, Dysphagia, Respiratory distress ORPHA:93958
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Dyspnea, Dysphagia, Abnormal pleura morphology, Pneumonia, Pulmon... ORPHA:2357
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertio... ORPHA:199241
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Meier-Gorlin Syndrome 1
Breast hypoplasia, Cryptorchidism, Emphysema, Respiratory distress OMIM:224690
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Hyperactivity, Pheochromocytoma, Depression, Hypertension, Respirator... ORPHA:805
Atrial Septal Defect, Sinus Venosus Type
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Dyspnea, Pulmonary arterial... ORPHA:99105
Cushing Disease
Purpura, Dementia, Memory impairment, Depression, Emotional lability, Hypertension, Increased uri... ORPHA:96253
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Delirium, Restlessness ORPHA:100924
Bradycardia, Respiratory distress, Hypertension, Dysphagia, Tachycardia, Tachypnea ORPHA:3299
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Congestive heart failure, Emphysema, Abnormal cardiac ventricular function, Recurre... ORPHA:90349
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Atelectasis, Bradycardia, Respiratory distress, Confusion, Hypotension, Ecc... ORPHA:319213
Neonatal Marfan Syndrome
Emphysema, Tricuspid regurgitation, Decreased testicular size, Heart murmur, Mitral regurgitation ORPHA:284979
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid... ORPHA:99889
Pituitary Adenoma 4, Acth-Secreting
Purpura, Abnormal fear-induced behavior, Emotional lability, Hypertension, Pituitary adenoma, Ecc... OMIM:219090
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:617180
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism, Cognitive impairment ORPHA:1145
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress ORPHA:89844
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Bilateral cryptorchidism, Unilateral cryptorchidism OMIM:300219
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Hypertension, Epistaxis, Agitation, Petechiae, Confusion, Dyspnea, Pneumonia, Palpit... ORPHA:340
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Dyspnea, Tricuspid regurgitati... ORPHA:75249
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Attention deficit hyperactivity disorder, Recurrent respiratory infections, Hypertrophic cardiomy... OMIM:619383
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Irritability, Restlessness, Respiratory distress ORPHA:544503
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Portal hypertension, Bile duct proliferati... OMIM:613658
Acute Interstitial Pneumonia
Atelectasis, Hypertension, Pleural effusion, Dyspnea, Bronchiectasis, Tachypnea, Interlobular sep... ORPHA:79126
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Respiratory distress, Confusion, Cardiomyopathy, Hypertrophic cardiomyo... OMIM:212140
Respiratory distress OMIM:150280
Pulmonary Arteriovenous Malformation
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Pleural empyema, Transient ischemic at... ORPHA:2038
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Dyspnea, Pulmonary arterial hypertension, Apnea, Interlo... OMIM:265120
Ellis Van Creveld Syndrome
Cryptorchidism, Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Marfan Syndrome
Congestive heart failure, Emphysema, Aortic regurgitation, Spontaneous pneumothorax, Mitral regur... ORPHA:558
Moebius Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Dysphagia, Respiratory distress OMIM:157900
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Respiratory distress, Dyspnea, Dysphagia, Recurrent respiratory infect... OMIM:211530
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Hypothyroidism, Hypogonadism, Arrhythmia, Dila... ORPHA:254913
Alfadhel Syndrome
Nasal flaring, Aggressive behavior OMIM:620655
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Intercostal retractions, Third hear... ORPHA:1329
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Dyspnea, Respiratory distress ORPHA:86812
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Respiratory distress, Dyspnea, Tachycardia, Intermittent hyperventilation, Apneic e... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Respiratory di... ORPHA:98915
Congenital Enterovirus Infection
Myocarditis, Irritability, Abnormal bleeding, Respiratory distress, Cardiomyopathy, Hypotension, ... ORPHA:292
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis ORPHA:96181
Alternating Hemiplegia Of Childhood
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Respiratory distress, Emotional labilit... ORPHA:2131
Gaucher Disease, Perinatal Lethal
Purpura, Respiratory distress, Petechiae, Apnea, Pulmonary hypoplasia, Dysphagia, Progressive neu... OMIM:608013
Avian Influenza
Pneumothorax, Congestive heart failure, Respiratory distress, Pleural effusion, Dyspnea, Pneumoni... ORPHA:454836
Ethylene Glycol Poisoning
Congestive heart failure, Pulmonary edema, Prolonged QT interval, Atrial fibrillation, Confusion,... ORPHA:31826
Scimitar Syndrome
Pneumothorax, Congestive heart failure, Bronchogenic cyst, Heart block, Respiratory distress, Pul... ORPHA:185
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Abnormal capillary physiology, Respiratory distress ORPHA:100057
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypertension, Increased urinary cortisol level, ... ORPHA:786
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax, Cerebral hemorrhage, Dysphagia, Subdural hemorrhage OMIM:620278
Cryptorchidism, Respiratory distress ORPHA:370924
Pigmented Nodular Adrenocortical Disease, Primary, 2
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Paradoxi... OMIM:610475
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Respiratory distress OMIM:615597
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Recurrent respiratory infections, Respiratory distress OMIM:606763
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Resp... ORPHA:50810
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Memory impairment, Respiratory distress, Supraventricular arrhythmia, C... ORPHA:3260
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Dyspnea, Pulmona... OMIM:178600
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Pulmonary hypopl... ORPHA:3309
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Atelectasis, Respiratory distress, Left ventricular outflow tract obstruction... ORPHA:365
Infantile Krabbe Disease
Irritability, Respiratory distress, Progressive neurologic deterioration, Abnormal heart rate var... ORPHA:206436
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Marfan Syndrome
Pneumothorax, Congestive heart failure, Emphysema, Aortic regurgitation, Tricuspid regurgitation,... OMIM:154700
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress OMIM:615042
Irritability, Abnormal bleeding, Respiratory distress, Hypertension, Elevated circulating catecho... ORPHA:635
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Congenital hypothyroidism, Cryptorchidism,... ORPHA:2519
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Prolonged QT interval, Respiratory distress, Tachypnea, Ventricular fibrillation, Atri... ORPHA:26793
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Bacterial Toxic-Shock Syndrome
Myocarditis, Pneumonia, Respiratory distress, Capillary leak, Confusion, Hypotension, Ecchymosis,... ORPHA:36234
Chronic Pneumonitis Of Infancy
Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress ORPHA:91359
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, Bradycardia, Tricuspid regurgitati... OMIM:614437
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Emphysema, Transient ischemic attack, Unilateral lung agenesis, Dysphagia, Absen... ORPHA:500150
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress OMIM:184260
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Tachypnea, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:614299
Q Fever
Myocarditis, Anorexia, Purpura, Abnormal pulmonary interstitial morphology, Respiratory distress,... ORPHA:781
Respiratory distress ORPHA:66637
Autosomal Dominant Cutis Laxa
Congestive heart failure, Emphysema, Aortic regurgitation, Bronchiolitis, Bronchiectasis, Periphe... ORPHA:90348
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Inappropriate antidiuretic hormone... ORPHA:99827
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Epidural hemorrhage, Emphysema, Dyspnea, Pulmonary arter... OMIM:619472
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Toxic Epidermal Necrolysis
Polydipsia, Gastrointestinal hemorrhage, Respiratory distress, Dysphagia, Abnormal pleura morphol... ORPHA:537
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Bradycardia, Respiratory distress, ST segment elevatio... OMIM:261740
Abnormal bleeding, Abnormality of the endocrine system, Reflex asystolic syncope, Respiratory dis... ORPHA:79329
Japanese Encephalitis
Anorexia, Pulmonary edema, Respiratory distress, Inappropriate antidiuretic hormone secretion, Ir... ORPHA:79139
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, Aspiration pneumonia, Apnea, Recurrent pneumonia ORPHA:314655
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Decreased response to growth hormone stimulation test, Respiratory dist... ORPHA:177907
Tracheobronchopathia Osteochondroplastica
Exertional dyspnea, Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respirator... ORPHA:3348
Gitelman Syndrome
Delayed puberty, Polydipsia, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, P... ORPHA:358
Hypoventilation, Pulmonary edema, Respiratory distress, Inappropriate antidiuretic hormone secret... ORPHA:79330
Keutel Syndrome
Emphysema, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Pe... OMIM:245150
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, ... ORPHA:99103
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory distress OMIM:617895
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Respiratory distress OMIM:202650
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Cardiac arrest, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Congenital Myasthenic Syndrome
Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Choking episodes... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Choking episodes... ORPHA:98914
Esophageal Atresia
Maternal diabetes, Respiratory distress, Bronchitis, Pulmonary hypoplasia, Dysphagia, Recurrent r... ORPHA:1199
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Respiratory distress, Compulsive behaviors, ... ORPHA:404448
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory ... ORPHA:363705
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Exertional dyspnea, Blood pressure substantially higher i... 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, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Ovarian neoplasm, Pulmonary bulla, Diabetes insipidus,... ORPHA:744
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Atelectasis, Recurrent lower resp... OMIM:620233
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Cryptorchidism, Recurrent upper respiratory tract infe... OMIM:607143
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Tricuspid regurgitation, Respiratory distress OMIM:620306
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress OMIM:250940
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Short attention span, Tricuspid regurgitation... OMIM:612863
Pneumonia, Memory impairment, Respiratory distress, Pleural effusion, Dyspnea, Nodular pattern on... ORPHA:1546
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Left ventricular outflow tract obstruction, Low-output congestive heart fai... ORPHA:308552
Respiratory distress ORPHA:166272
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Respiratory distress, Recurrent bronchopulmonary infections, Hypertroph... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Respiratory distress ORPHA:329178
Hereditary Angioedema Type 1
Dyspnea, Hypotension, Dysphagia, Respiratory distress ORPHA:100050
Lymphatic Malformation 7
Chylothorax, Pulmonary edema, Pleural effusion, Respiratory distress OMIM:617300
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding, Respiratory distress, Re... OMIM:616271
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short attention span, Hypertrophic cardiomyopathy, Apnea, Recurrent respira... ORPHA:17
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Congestive heart failure, Respiratory distress, Portal hypertension, ... ORPHA:367
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Central apnea, Pulmonary arterial hypertension, Respiratory distress OMIM:616482
Thrombotic Thrombocytopenic Purpura, Hereditary
Confusion, Transient ischemic attack, Myocardial infarction, Respiratory distress OMIM:274150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Respiratory distress OMIM:251000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Memory impairment, Respiratory distress, Pulmonary arterial hypertension, Delirium, Dementia, Dil... ORPHA:79282
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Pulmonary hypoplasia, Respiratory distress OMIM:608022
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, A... ORPHA:210122
Abnormality of the endocrine system, Respiratory distress, Vasculitis, Pleural empyema, Cerebral ... ORPHA:228123
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pulmonary arterial h... OMIM:615343
Farber Disease
Nodular pattern on pulmonary HRCT, Respiratory distress, Atelectasis, Recurrent upper respiratory... ORPHA:333
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Respiratory distress OMIM:151210
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Abnormality of the endocrine system, Respiratory distress, Thyr... ORPHA:37042
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Respiratory distress, Hypertension, Cardiac arrest, Dyspne... ORPHA:3342
Eisenmenger Syndrome
Exertional dyspnea, Aortopulmonary window, Left-to-right shunt, Heart murmur, Abnormal bleeding, ... ORPHA:97214
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Unilateral breast hypoplasia, Recurrent respiratory infections... OMIM:300968
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Anorexia, Respiratory distress, Pleural effusion, Hypotension, Retinal hemorrhage, Pericarditis, ... ORPHA:509
Radio-Renal Syndrome
Chylothorax, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Familial Chylomicronemia Syndrome
Pulmonary embolism, Abnormal emotion, Memory impairment, Depression, Dementia, Diabetes mellitus ORPHA:444490
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia, Respiratory distress OMIM:231680
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress ORPHA:2707
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Respiratory distress, Impaired oral bolus formation, Impaired orophary... 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, Tricuspid regurgitation, Pulmonary arterial hyper... ORPHA:505248
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Respiratory distress ORPHA:438216
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Cardiomyopathy, Respiratory distress OMIM:217980
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Apnea, Dysphagia, Episodic ... ORPHA:255210
Sotos Syndrome
Small cell lung carcinoma, Aggressive behavior, Hypothyroidism, Pulmonary bleb, Attention deficit... ORPHA:821
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Hematemesis, Anorexia, Abnormal bleeding, Respiratory distress, Acute infectious pneumonia, Depre... ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353281
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis OMIM:273395
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Exertio... OMIM:187300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hypoplasia, Bruising suscep... ORPHA:536467
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Hypertrophic cardiomyopathy, Respiratory distress OMIM:220110
Kniest Dysplasia
Respiratory distress OMIM:156550
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Respiratory distress OMIM:618188
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Bradycardia, Petechiae, Dyspnea, Hypotension, Nasal flaring, Tachycardia ORPHA:90051
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Pleural effusion, Respiratory distress OMIM:620369
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Colchicine Poisoning
Myocarditis, Congestive heart failure, Respiratory distress, Hypotension, Hypovolemia, Cardiogeni... ORPHA:31824
Myocarditis, Congestive heart failure, Irritability, Arteritis, Respiratory distress, Pericarditi... ORPHA:533
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Respiratory distress, Hypertrophic cardiomyopathy, Dysphagia, Dil... OMIM:164310
Pulmonary hypoplasia, Respiratory distress OMIM:100800
Ramos-Arroyo Syndrome
Self-mutilation, Respiratory distress ORPHA:1051
Triosephosphate Isomerase Deficiency
Congestive heart failure, Cholelithiasis, Respiratory distress OMIM:615512
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Exertional dyspnea, Cardiac total anoma... ORPHA:99125
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Gastrointestinal hemorrhage, Respiratory distress, Hyperactivity, Low fru... ORPHA:508488
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious behavior, Aggr... ORPHA:466943
Arboleda-Tham Syndrome
Respiratory distress, Bilateral cryptorchidism, Pulmonic stenosis, Recurrent aspiration pneumonia... OMIM:616268
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Respiratory distress OMIM:613848
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato... ORPHA:141127
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Apnea, Hypopnea, Recurrent lower respiratory tract infections, Respiratory distress OMIM:618426
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hyperactivity, Short attention span, Bilateral cryptorchidism, Premature th... OMIM:180849
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Respiratory distress OMIM:251110
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Schinzel-Giedion Syndrome
Annular pancreas, Respiratory distress, Central hypothyroidism, Recurrent pneumonia, Pulmonary hy... ORPHA:798
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Respiratory distress, ... ORPHA:2255
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Respiratory distress, Petechiae, Hypopnea ORPHA:2330
Doors Syndrome
Adrenal hyperplasia, Respiratory distress, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Rodrigues Blindness
Nasal flaring OMIM:268320
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Respiratory distress OMIM:123790
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Generalized Arterial Calcification Of Infancy
Irritability, Left ventricular systolic dysfunction, Respiratory distress, Hypertension, Weak pul... ORPHA:51608
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsiv... 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
Pneumothorax, Bradycardia, Respiratory distress, Dyspnea, Pneumonia, Dilated cardiomyopathy ORPHA:79404
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Abnormal testis morphology, Hypertrophic cardiomyopathy, Tricuspid... ORPHA:2556
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the eccrine swea... OMIM:305100
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cryptorchidism, Dyspnea, Breast aplasia ORPHA:2554
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary arterial hypertension, Aortic valve stenosis, Pulmonary artery stenosis, R... OMIM:615067
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Respiratory distress, Pancreatic hypoplasia, Biliary hyperplasia, Pulmonary hypop... ORPHA:83617
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Hypertension, Cognitive impairment, Recurr... ORPHA:64
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Total anomalous pulmonary venous return, Pulmonic stenosis, Mitral stenosis... OMIM:306955
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Stüve-Wiedemann Syndrome
Hypothyroidism, Apnea, Ectopic thyroid, Respiratory distress ORPHA:3206
Osteoglophonic Dysplasia
Cryptorchidism, Respiratory distress OMIM:166250
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Respiratory distress, Depression, Pneumonia ORPHA:95455
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Campomelic Dysplasia
Respiratory distress, Apnea, Recurrent lower respiratory tract infections, Recurrent upper respir... OMIM:114290
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Respiratory distress OMIM:617156
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Respiratory distress, Cyst of the ductus choledochus, Hypoplastic nipples, Cardi... ORPHA:480880
Ulbright-Hodes Syndrome
Pneumothorax, Maternal diabetes, Respiratory distress, Pulmonary hypoplasia, Cryptorchidism ORPHA:3404
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:614748
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Multiple Osteochondromas
Pneumothorax, Dysphagia, Hemothorax ORPHA:321
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Respiratory dis... ORPHA:79318
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormality of the endocrine system, Abnormal prolactin ... ORPHA:3385
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Respiratory distress ORPHA:99646


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.

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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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