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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
Panic Disorder 1
Anxiety OMIM:167870
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph... OMIM:613490
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough ORPHA:1164
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Apathy, Respiratory distress, Depression, Anxiety, Mental deterioration,... ORPHA:240085
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Choking episodes, Syncope, Respiratory distress, Recurrent pneumonia, ... ORPHA:60032
Geniospasm 1
Anxiety OMIM:190100
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Increased serum serotonin, Myocardial infarction, Abnormal... ORPHA:3325
Hypophosphatasia
Respiratory insufficiency, Irritability, Emphysema ORPHA:436
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Bardet-Biedl Syndrome 16
Cognitive impairment, Recurrent respiratory infections, Hypogonadism, Respiratory distress, Bronc... OMIM:615993
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis OMIM:604571
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Gaucher Disease Type 2
Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia, Recurren... ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Irritability, Respiratory distress ORPHA:238329
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... OMIM:610600
Staphylococcal Necrotizing Pneumonia
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Alcoholis... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Emphysema OMIM:210050
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Thyroid Lymphoma
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... ORPHA:97285
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Dystonia 11, Myoclonic
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Hypertension, Emphysema, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Anaplastic Thyroid Carcinoma
Nodular goiter, Respiratory distress, Anaplastic thyroid carcinoma, Upper airway obstruction, Dys... ORPHA:142
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Diabetes mellitus, Dyspnea, Cough, Respiratory failure requiring... ORPHA:140896
Wolfram-Like Syndrome
Respiratory insufficiency, Hypothyroidism, Primary gonadal insufficiency, Dementia, Male hypogona... ORPHA:411590
Familial Hyperaldosteronism Type I
Hypertension, Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortica... ORPHA:403
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper respiratory t... OMIM:263000
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
N-Acetylglutamate Synthase Deficiency
Aggressive behavior, Cognitive impairment, Respiratory distress OMIM:237310
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Oxygen desaturation on exertion, Crackles, Compensated hypothyroidism, W... OMIM:610978
Optic Atrophy 8
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment OMIM:616648
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... OMIM:613642
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Cognitive impairment, Motor deterioration, Ventilator dependence with ... ORPHA:254875
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Mat... ORPHA:70588
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Recurrent streptococcus pneumoniae... ORPHA:66624
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Motor deterioratio... ORPHA:136
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Emotional lability, Brui... OMIM:615830
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... ORPHA:45452
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Emphysema, Pleural effusion, Restrictive ventilatory defect, Airway obst... ORPHA:36412
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Aplasia of... OMIM:242700
Choanal Atresia
Abnormal nasal mucus secretion, Inappropriate crying, Choking episodes, Respiratory distress, Chr... ORPHA:137914
Fabry Disease
Respiratory insufficiency, Angina pectoris, Hypertrophic cardiomyopathy, Diabetes insipidus, Tran... ORPHA:324
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556037
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Abnorma... ORPHA:404
Stargardt Disease
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... ORPHA:827
Huntington Disease-Like 2
Inertia, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, Memory impair... OMIM:606438
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism, Adrenal hyperplasia OMIM:103900
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Respiratory distress, Lymphocytic intersti... OMIM:245590
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Restrictive ventilatory defect, Dysphagia, Respi... OMIM:614399
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Dysphagia OMIM:619751
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... OMIM:234810
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Abnorma... ORPHA:251274
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... ORPHA:70587
Malaria
Cognitive impairment, Respiratory distress ORPHA:673
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Asbestos Intoxication
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Nonpro... ORPHA:2302
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Emotional l... OMIM:610475
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Attention deficit hyperactivity disorder, Depression, Anxiety OMIM:619191
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... ORPHA:1302
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556030
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Lymphangioleiomyomatosis
Pneumothorax, Cognitive impairment, Emphysema, Restrictive ventilatory defect, Dyspnea, Chylothor... ORPHA:538
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Memory impairment, Respiratory distress, Dysphagia ORPHA:240103
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... OMIM:616414
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress, Dementia ORPHA:2596
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Congestive ... ORPHA:2414
Succinic Acidemia
Respiratory distress OMIM:600335
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Intracranial hemorrhage, Adrenal hyperplasia... ORPHA:369929
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Cerebral ischemia, Respiratory distress, Agitation, Emotional lability, Anx... ORPHA:927
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Asthma, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract in... OMIM:619632
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Acquired Methemoglobinemia
Syncope, Hypoxemia, Respiratory distress, Arrhythmia, Dyspnea, Palpitations, Anxiety, Tachycardia ORPHA:464453
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia, Polydipsia OMIM:613677
Primary Pigmented Nodular Adrenocortical Disease
Cognitive impairment, Increased circulating cortisol level, Type II diabetes mellitus, Decreased ... ORPHA:189439
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abnormal bleeding... ORPHA:238459
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Cognitive impairment, Increased circulating cortisol level, Macronodular adre... ORPHA:189427
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Netherton Syndrome
Asthma, Recurrent respiratory infections, Emphysema ORPHA:634
Perry Syndrome
Respiratory insufficiency, Inappropriate behavior, Frontotemporal dementia, Hypoventilation, Suic... OMIM:168605
Nocardiosis
Pneumothorax, Productive cough, Pleuritis, Thyroiditis, Respiratory distress, Emphysema, Pleural ... ORPHA:31204
Meier-Gorlin Syndrome 4
Breast hypoplasia, Cryptorchidism, Emphysema OMIM:613804
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Enla... OMIM:181000
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... ORPHA:231580
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Hypertrophic cardiomyopathy, Respiratory distress, Respiratory insufficiency due to mu... OMIM:613561
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress ORPHA:91130
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
Common Variable Immunodeficiency
Recurrent respiratory infections, Bronchiectasis, Recurrent bronchitis, Purpura, Emphysema, Restr... ORPHA:1572
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, ... OMIM:123700
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Thyroid hemiagenesis... ORPHA:209905
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage, Psychomotor deterioration, Dementia, Emphysema ORPHA:357074
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterioration, Dem... ORPHA:168782
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnor... ORPHA:3077
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... ORPHA:91359
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Peripheral pulmon... OMIM:613177
Loeys-Dietz Syndrome 4
Pneumothorax, Bruising susceptibility, Emphysema OMIM:614816
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... ORPHA:596
Laryngotracheoesophageal Cleft
Aspiration, Choking episodes, Impaired oropharyngeal swallow response, Cough, Dyspnea, Stridor, N... ORPHA:2004
Myotonic Dystrophy 1
Hypogonadism, Respiratory distress, Testicular atrophy, Dysphagia, Atrial flutter, First degree a... OMIM:160900
Nipah Virus Disease
Hypotension, Cough, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Respiratory distress OMIM:612075
Folinic Acid-Responsive Seizures
Apnea, Irritability, Respiratory distress ORPHA:79097
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Congestive heart failure, Abnormality of the pulmonary artery, Emphysema... ORPHA:363618
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Canavan Disease
Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:141
Insulinoma
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Hyperinsuli... ORPHA:97279
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Anxiety, Increased circulating cortisol level, Adr... ORPHA:1501
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Dys... OMIM:211530
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cutis Laxa, Autosomal Recessive, Type Ia
Supravalvular aortic stenosis, Recurrent respiratory infections, Emphysema OMIM:219100
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Hypoxemia, Respiratory distress ORPHA:2140
Long Qt Syndrome 13
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased c... ORPHA:226313
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Oromandibular Dystonia
Respiratory distress, Depression, Dysphagia ORPHA:93958
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection OMIM:620011
Bronchial Neuroendocrine Tumor
Hypotension, Abnormal pulmonary interstitial morphology, Facial telangiectasia, Increased circula... ORPHA:97287
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:201910
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia, Respiratory distress OMIM:616733
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Cognitive impairment, Respiratory distress, Cryptorchidism ORPHA:1145
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Rhinitis, Excessive bleeding after a venipuncture, Purpura, Respiratory... ORPHA:319213
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections... OMIM:606763
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Decreased response to growth hormone stimulation test, Emphysema, Delayed ... OMIM:616835
Inhalational Anthrax
Hypotension, Respiratory distress, Internal hemorrhage, Abnormal sweat gland morphology, Dyspnea ORPHA:247257
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Pulmonary bleb, Repeated pneumothoraces, Hemothorax, Nodular pattern on pulmonary H... OMIM:130050
Sarcoidosis
Hypothyroidism, Pneumothorax, Bronchiectasis, Heart block, Pleural effusion, Parotitis, Diabetes ... ORPHA:797
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Hypoxemia, Peribronch... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials OMIM:618195
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Congestive heart failure, Pleura... ORPHA:454836
Chitayat Syndrome
Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res... OMIM:617180
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... ORPHA:99105
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... ORPHA:90791
Neonatal Marfan Syndrome
Heart murmur, Decreased testicular size, Hypoxemia, Emphysema, Mitral regurgitation, Neonatal res... ORPHA:284979
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pulmonary edema, Hypoxemia, P... ORPHA:199241
Primary Dystonia, Dyt4 Type
Respiratory distress, Dementia, Dysphagia ORPHA:98805
Cushing Disease
Pituitary corticotropic cell adenoma, Suicidal ideation, Increased circulating cortisol level, Ca... ORPHA:96253
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Dysphagia OMIM:619708
De Barsy Syndrome
Cryptorchidism, Recurrent sinopulmonary infections, Emphysema ORPHA:2962
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Upper airway obstruction, Respiratory distress, Abnormal capillary physiology ORPHA:100057
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Pulmonary edema, Reduced left ventricular ejecti... OMIM:115197
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleural empyem... ORPHA:2038
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, Lung absces... OMIM:610910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Dyspnea, Respiratory distress, Cough ORPHA:86812
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress OMIM:615042
Holocarboxylase Synthetase Deficiency
Irritability, Respiratory distress, Tachypnea ORPHA:79242
Tuberous Sclerosis Complex
Respiratory tract infection, Aggressive behavior, Hyperactivity, Self-injurious behavior, Parathy... ORPHA:805
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Emphysema, Cough, Bile duc... OMIM:613658
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Pneumothorax, Abnormal cardiac ventricular function, Congestive heart ... ORPHA:90349
Meier-Gorlin Syndrome 1
Breast hypoplasia, Cryptorchidism, Respiratory distress, Emphysema OMIM:224690
Porphyria Due To Ala Dehydratase Deficiency
Respiratory insufficiency, Abnormal fear/anxiety-related behavior, Apathy, Ventilator dependence ... ORPHA:100924
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Inappropriate crying, Paroxysmal dyspnea, Stridor... ORPHA:141083
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal h... ORPHA:90790
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Irritability, Restlessness, Respiratory distress ORPHA:544503
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Suicidal ideation, Attention deficit hyperactivity disorder, Depression, An... ORPHA:98784
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... ORPHA:52368
Stt3B-Cdg
Respiratory distress, Cryptorchidism ORPHA:370924
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Suicidal ideation, Capillary fragility, Atypical pulmonary ... ORPHA:99889
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Bilateral cryptorchidism, Respiratory distress, Atelectasis OMIM:300219
Tularemia
Respiratory distress, Pleural effusion, Cough, Pneumonia, Tachycardia ORPHA:3392
Infantile Krabbe Disease
Inappropriate crying, Respiratory distress, Psychomotor deterioration, Abnormal heart rate variab... ORPHA:206436
Gaucher Disease, Perinatal Lethal
Petechiae, Apathy, Purpura, Pulmonary hypoplasia, Respiratory distress, Apnea, Progressive neurol... OMIM:608013
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia ORPHA:89844
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyopa... OMIM:614299
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism OMIM:615597
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Tetanus
Hypertension, Respiratory distress, Dysphagia, Bradycardia, Tachycardia, Tachypnea ORPHA:3299
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema ORPHA:289
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... ORPHA:90068
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Apnea, Hypertrophic cardi... ORPHA:70474
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive visual loss, Constriction of peripheral visual field, Abnormality of visual evoked po... ORPHA:1215
Mercury Poisoning
Hypotension, Interstitial pneumonitis, Respiratory distress, Hypertension, Dyspnea, Respiratory f... ORPHA:330021
Diffuse Alveolar Hemorrhage
Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Cough, Pulmonary venous h... ORPHA:90060
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Raynaud phenomen... ORPHA:79128
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... ORPHA:75249
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary... OMIM:178600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio... ORPHA:365
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiomyopathy, Aggressive behavior, Aspiration, Respiratory distress, Emotional... ORPHA:2131
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio... ORPHA:308552
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Respiratory distress, Abnormal calcium-phosphate regulating hormone level ORPHA:50810
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Slow decrease in visual acuity, Abnormality of visual evoked potentials, Cen... OMIM:601152
Scimitar Syndrome
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Left-to-right shunt, Pulm... ORPHA:185
Keutel Syndrome
Recurrent bronchitis, Chronic sinusitis, Hypertension, Emphysema, Pulmonary artery hypoplasia, Ai... OMIM:245150
Congenital Enterovirus Infection
Hypotension, Myocarditis, Abnormal bleeding, Respiratory distress, Pleural effusion, Irritability... ORPHA:292
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Moebius Syndrome
Hypogonadotropic hypogonadism, Dysphagia, Respiratory distress, Decreased testicular size OMIM:157900
Hemorrhagic Fever-Renal Syndrome
Hypotension, Pleural effusion, Shock, Palpitations, Capillary leak, Hematemesis, Pneumonia, Respi... ORPHA:340
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia ORPHA:96181
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re... ORPHA:98914
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Cardiac arrest, Respiratory distress, Hypertrophic cardiomyopathy, Inspira... OMIM:604377
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:212140
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis, Adrenal gland agenesis OMIM:611812
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Marfan Syndrome
Congestive heart failure, Pulmonary artery dilatation, Emphysema, Attention deficit hyperactivity... ORPHA:558
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Supernumerary nipple, Respiratory distress, Cryptorchidism, Cong... ORPHA:2519
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress OMIM:608799
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma OMIM:262850
Marfan Syndrome
Pneumothorax, Congestive heart failure, Pulmonary artery dilatation, Emphysema, Aortic regurgitat... OMIM:154700
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary insufficiency, Pulmonary artery dilatation, Emphysema, Brady... OMIM:614437
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Attention deficit hyperactivity di... OMIM:619383
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... ORPHA:90796
Autosomal Dominant Cutis Laxa
Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, ... ORPHA:90348
Odontochondrodysplasia 1
Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress OMIM:184260
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri... ORPHA:99103
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Pulmonary hypoplasia, Respiratory distress, Conges... ORPHA:3309
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Episodic tachypnea, Respiratory distress, Dilated cardiomyopathy, Prolonged QT interval, Ventricu... ORPHA:26793
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Fixed Subaortic Stenosis
Systolic heart murmur, Left ventricular outflow tract obstruction, Exertional dyspnea, Diastolic ... ORPHA:3092
Ethylene Glycol Poisoning
Hypotension, Pulmonary edema, Congestive heart failure, Hypertension, Shock, Tachycardia, Euphori... ORPHA:31826
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Asthma, Transient ischemic attack, Supraventricular arrhythmia, Raynaud pheno... ORPHA:3260
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia, Abnormality of visual evoked potentials OMIM:614457
Agnathia-Otocephaly Complex
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... ORPHA:95699
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials ORPHA:2971
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Bronchitis, Respiratory tract infection, Testicular microlithiasis, Pn... ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
Esophageal Atresia
Bronchitis, Oral aversion, Aspiration, Maternal diabetes, Respiratory distress, Chronic pulmonary... ORPHA:1199
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pulmonary edema, T-wave inversion, ST segment depression, Respiratory distress, Cong... OMIM:261740
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Ischemic stroke, Transient ischemic attack, Unilateral lung agenesis, Emphyse... ORPHA:500150
Toxic Epidermal Necrolysis
Sudden cardiac death, Abnormal pleura morphology, Respiratory distress, Restrictive ventilatory d... ORPHA:537
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Persistent fetal circulation, Respiratory distress, Congestive h... ORPHA:363705
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Dilated cardiomyopathy, Congestive heart failure, Respiratory distress... ORPHA:367
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Myopia, Cerebral visual impairment, Hypermetropia, Abnormality of visual evoked potentials OMIM:616875
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety ORPHA:309246
Mogs-Cdg
Hypothyroidism, Hypoventilation, Pulmonary edema, Respiratory distress, Hydrocele testis, Apnea, ... ORPHA:79330
Friedreich Ataxia
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... OMIM:229300
Cryptococcosis
Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, Dyspnea, Cough, Mental... ORPHA:1546
Late Infantile Neuronal Ceroid Lipofuscinosis
Blindness, Visual loss, Myopia, Reduced visual acuity, Abnormality of visual evoked potentials, A... ORPHA:168491
Bacterial Toxic-Shock Syndrome
Hypotension, Respiratory tract infection, Myocarditis, Respiratory distress, Ecchymosis, Shock, S... ORPHA:36234
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anxiety ORPHA:438216
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Tricuspid regurgitation, Aorto... ORPHA:2299
Viss Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Pulmonary artery aneurysm, Pneumothorax, Asthma,... OMIM:619472
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Head-banging, Decreased response to growth hormone stimulation tes... ORPHA:177907
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:206443
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... ORPHA:99104
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Adnp Syndrome
Aggressive behavior, Aspiration, Respiratory distress, Recurrent upper respiratory tract infectio... ORPHA:404448
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Cardiorespiratory... ORPHA:228116
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Respiratory distress, Cardiomyopathy OMIM:251000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Central apnea, R... OMIM:616482
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Adrenal insufficiency, Tachycardia, Abnormal left ventricular functi... ORPHA:99827
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Right bundle branch block, Abnor... ORPHA:70591
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Polydipsia, Type II ... ORPHA:358
Diaphanospondylodysostosis
Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:608022
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2707
Hereditary Angioedema Type 1
Hypotension, Respiratory distress, Dyspnea, Dysphagia, Inspiratory stridor ORPHA:100050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Respiratory distress ORPHA:329178
Mepan Syndrome
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:508093
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Increased circulating ACTH level, Purpura, Pituitary aden... OMIM:219090
Lymphatic Malformation 7
Pleural effusion, Respiratory distress, Pulmonary edema, Chylothorax OMIM:617300
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure ORPHA:3015
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Aspiration, Reduced forced vital capacity, Respiratory distress, ... OMIM:164310
Eisenmenger Syndrome
Aortopulmonary window, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palp... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory distress, Hypertrophic cardiomyopathy, Respiratory failure, Respi... OMIM:220110
Japanese Encephalitis
Cognitive impairment, Pulmonary edema, Respiratory paralysis, Irregular respiration, Respiratory ... ORPHA:79139
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormality of visual evoked potentials OMIM:125310
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Arterial Tortuosity Syndrome
Cardiac arrest, Respiratory distress, Congestive heart failure, Hypertension, Cardiorespiratory a... ORPHA:3342
Q Fever
Abnormal pulmonary interstitial morphology, Myocarditis, Purpura, Respiratory distress, Pleural e... ORPHA:781
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Respiratory distress, Congestive heart failure, Recurrent ... OMIM:617303
Familial Chylomicronemia Syndrome
Pulmonary embolism, Abnormal emotion/affect behavior, Dementia, Diabetes mellitus, Depression, Me... ORPHA:444490
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Neonatal respiratory distress, Tracheomalacia, Cardiomyopathy OMIM:217980
Wrinkly Skin Syndrome
Cryptorchidism, Recurrent sinopulmonary infections, Emphysema ORPHA:2834
Farber Disease
Respiratory insufficiency, Nodular pattern on pulmonary HRCT, Respiratory distress, Recurrent upp... ORPHA:333
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Congestive heart failure, Respiratory failure, C... OMIM:615512
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Respiratory distress, Recurrent pneumonia, Prolonged... OMIM:616271
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pulmonary fibrosis, Respiratory distress OMIM:612852
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormality of visual evoked potentials OMIM:256600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Respiratory distress, Dementia, Dilated card... ORPHA:79282
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Respiratory distress OMIM:151210
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Absent gallbladder, Respiratory distress, Annular pancreas, Aort... ORPHA:210122
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation, Respirato... ORPHA:141127
Coccidioidomycosis
Cognitive impairment, Pleural empyema, Cerebral ischemia, Exudative pleural effusion, Respiratory... ORPHA:228123
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:480898
Mgat2-Cdg
Reflex asystolic syncope, Abnormal bleeding, Respiratory distress, Abnormality of the endocrine s... ORPHA:79329
Sepsis In Premature Infants
Hypotension, Petechiae, Nasal flaring, Abnormal respiratory system physiology, Purpura, Abnormal ... ORPHA:90051
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia, Respiratory distress OMIM:231680
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Kniest Dysplasia
Tracheomalacia, Respiratory distress OMIM:156550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Respiratory distress, Congestive heart failure, Hypertrophic car... ORPHA:505248
Telangiectasia, Hereditary Hemorrhagic, Type 1
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Reduced... OMIM:187300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Unilateral breast hypoplasia, Respiratory distress, Abnormality... OMIM:300968
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Respiratory distress, Congestive heart failure, Card... ORPHA:31824
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation OMIM:612863
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Respiratory distress, Cryptorchidism ORPHA:1555
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Hyperthyroidism, Recurrent respiratory infections, Interstitial pneumonitis, Thyr... ORPHA:37042
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Self-injurious behavior, Asthma, Nasal flaring, Attention deficit hyperactiv... ORPHA:466943
Auriculocondylar Syndrome
Snoring, Obstructive sleep apnea, Respiratory distress ORPHA:137888
Achondroplasia
Pulmonary hypoplasia, Upper airway obstruction, Respiratory distress OMIM:100800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Pulmonary hypoplasia, B... ORPHA:536467
Sotos Syndrome
Hypothyroidism, Aggressive behavior, Pulmonary bleb, Anxiety, Hydrocele testis, Small cell lung c... ORPHA:821
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Rodrigues Blindness
Nasal flaring OMIM:268320
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress, Recurrent lower respiratory... OMIM:618426
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Myocardial infarction, Respiratory distress OMIM:274150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Aggressive behavior, Respiratory distress, Apnea, Hypertrophic cardiomyopathy, Recurrent respirat... ORPHA:17
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of visual evoked potentials ORPHA:35069
Congenital Disorder Of Deglycosylation 1
Impaired oropharyngeal swallow response, Central sleep apnea, Respiratory distress, Impaired oral... OMIM:615273
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Ramos-Arroyo Syndrome
Self-mutilation, Respiratory distress ORPHA:1051
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Respiratory distress OMIM:618188
Listeriosis
Myocarditis, Irritability, Respiratory distress, Congestive heart failure, Pericarditis, Respirat... ORPHA:533
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Chronic lung disease, Respiratory distress OMIM:613848
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Apnea, Hypertrophic cardiomyopathy, Dyspnea, Cardiac conduction abnormali... ORPHA:255210
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Exertional dyspnea, Cardiac total anomalous pulmonary venous con... ORPHA:99125
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
White-Sutton Syndrome
Mild myopia, Visual impairment, Myopia, Hypermetropia, Abnormality of visual evoked potentials OMIM:616364
Biotinidase Deficiency
Apnea, Hyperventilation, Respiratory distress ORPHA:79241
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress ORPHA:93259
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Kasabach-Merritt Syndrome
Petechiae, Purpura, Respiratory distress, Prolonged prothrombin time, Hypopnea ORPHA:2330
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress ORPHA:93260
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Metachromatic Leukodystrophy, Late Infantile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309256
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Adrenal gland agenesis OMIM:273395
Metachromatic Leukodystrophy, Juvenile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309263
Plague
Hypotension, Abnormal bleeding, Respiratory distress, Arrhythmia, Depression, Anxiety, Hematemesi... ORPHA:707
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Respiratory distress, Pleural effusion, Pe... ORPHA:509
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Rhinitis, Respiratory distress, Cough, Depression, Anxiety, Respiratory failure requiring assiste... ORPHA:95455
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Respiratory distress OMIM:123790
Rubinstein-Taybi Syndrome 1
Respiratory tract infection, Premature thelarche, Hyperactivity, Bilateral cryptorchidism, Respir... OMIM:180849
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Hermansky-Pudlak Syndrome
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Ear-Patella-Short Stature Syndrome
Breast aplasia, Respiratory distress, Dyspnea, Cryptorchidism, Respiratory failure ORPHA:2554
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Bilateral cryptorchidism, Respiratory distress, Dysphagia, Neonat... OMIM:616268
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Respiratory distress, Dilated cardiomyopathy, Dyspnea, Stridor, Respiratory failure... ORPHA:79404
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Absent nipple, Respiratory distress, Aplasia/Hypoplastia of the eccrine sweat glands, H... OMIM:305100
8Q24.3 Microdeletion Syndrome
Hyperactivity, Abnormal lung lobation, Respiratory distress, Ectopic posterior pituitary, Gastroi... ORPHA:508488
Stüve-Wiedemann Syndrome
Hypothyroidism, Asthma, Respiratory distress, Apnea, Ectopic thyroid ORPHA:3206
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Pancreatic calcification, Transient ischemic... ORPHA:51608
Schinzel-Giedion Syndrome
Central hypothyroidism, Pulmonary hypoplasia, Respiratory distress, Recurrent pneumonia, Annular ... ORPHA:798
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Microphthalmia With Linear Skin Defects Syndrome
Abnormal testis morphology, Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyop... ORPHA:2556
Campomelic Dysplasia
Tracheobronchomalacia, Respiratory distress, Apnea, Recurrent upper respiratory tract infections,... OMIM:114290
Doors Syndrome
Congenital hypothyroidism, Aspiration pneumonia, Respiratory distress, Adrenal hyperplasia ORPHA:79500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the ga... ORPHA:2255
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Neonatal respiratory distress, ... OMIM:614748
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Pulmonary hypoplasia, Respiratory distress, Cryptorch... ORPHA:83617
Metachromatic Leukodystrophy, Adult Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309271
Isolated Arrhinia
Respiratory distress ORPHA:1134
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
Alström Syndrome
Chronic bronchitis, Recurrent sinusitis, Decreased circulating T4 concentration, Abnormal coronar... ORPHA:64
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Mitral stenosis, Respiratory distress, Total anomalous pulmonary venous ... OMIM:306955
Ulbright-Hodes Syndrome
Pneumothorax, Maternal diabetes, Pulmonary hypoplasia, Respiratory distress, Cryptorchidism, Resp... ORPHA:3404
Cleidocranial Dysplasia 1
Neonatal respiratory distress, Respiratory distress OMIM:119600
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Respiratory distress, Recurrent upper and lower respiratory tract... ORPHA:480880
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Multiple Osteochondromas
Pneumothorax, Hemothorax, Dysphagia ORPHA:321
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Cockayne Syndrome B
Hypermetropia, Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Hypermetropia, Abnormality of visual evoked potentials OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Pmm2-Cdg
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... ORPHA:79318
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal prol... ORPHA:3385
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Respiratory distress ORPHA:99646

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Crhr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Crhr1.

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

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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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