Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nuclear receptor subfamily 3, group C, member 1
Synonyms:
GR,  Grl-1,  Grl1,  glucocorticoid receptor

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr3c1 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.

The table below shows human diseases associated to Nr3c1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962

The table below shows human diseases predicted to be associated to Nr3c1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Hypokalemia, Adrenal hyperpl... OMIM:613677
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:201910
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Diabetes mellitus, ... OMIM:615830
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Dec... ORPHA:231580
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ci... OMIM:177735
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia, Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Pseudohypoal... OMIM:264350
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Palpitations, Abnorma... ORPHA:1501
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism OMIM:613743
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:179494
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Laryngomalacia ORPHA:1202
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adreno... ORPHA:189439
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Macroorchidism, Hyperactive renin-angiotensin system, Pneum... ORPHA:90790
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hypertension, Hyperaldosteronism, Abnormal circulating renin,... ORPHA:369929
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Bruising susceptibility, Macronodular adrenal hyperplasia ORPHA:189427
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Laryngeal Abductor Paralysis
Respiratory insufficiency, Laryngomalacia ORPHA:2808
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Meconium Aspiration Syndrome
Maternal diabetes, Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, ... ORPHA:70588
Maple Syrup Urine Disease
Respiratory insufficiency, Abnormality of the pharynx ORPHA:511
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Increased circulating antibody leve... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Tracheal atresia, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism,... ORPHA:231632
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased antimullerian hormone... OMIM:273250
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testoster... OMIM:618841
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Cushing Disease
Telangiectasia of the skin, Diabetes mellitus, Adrenal hyperplasia, Bruising susceptibility, Prem... ORPHA:96253
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Cholelithiasis, Glucocortocoid-insen... ORPHA:171876
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Recurrent respirat... OMIM:618042
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Parathyroid adenoma, Pneumothorax, Medullary thyroid carcinoma ORPHA:122
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Decreased circulating gonadotropin concentration, Dela... OMIM:614841
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Pulmonary infiltrates, Dyspnea, Parenchymal con... ORPHA:36238
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Hypoadrenocorticism, Familial
Adrenal insufficiency, Cyanosis, Adrenal hypoplasia, Apnea OMIM:240200
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia OMIM:214700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Respiratory distress, Dyspnea, Laryngotracheal stenosis, Co... ORPHA:142
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Bilateral breast hyp... ORPHA:52901
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95513
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Decreased circulating lute... OMIM:228300
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema ORPHA:60
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Bartter Syndrome, Type 3
Hypotension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating reni... OMIM:607364
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Neuroendocrine neoplasm, Increased serum serotonin, Neoplasm of the larynx, A... ORPHA:100083
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly OMIM:201100
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
East Syndrome
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Increased circulating renin level ORPHA:199343
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Adrenal gland agenesis, Pulmonary artery stenosis, Bilateral lung agenesis OMIM:611812
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Hypotension, Decreased c... ORPHA:199296
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Abnormal response to hu... ORPHA:95699
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
49,Xxxyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormality of the testis size, Decr... ORPHA:261534
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Decreased circulating T4 level, Elevated circulating thyroid-stimul... ORPHA:226313
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth, Abnormality of the endocrine system OMIM:274210
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle w... OMIM:611890
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Glucocorticoid Deficiency 5
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level OMIM:617825
Acth Deficiency, Isolated
Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaundice, Adrenocorticotro... OMIM:201400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Supraventricular arrhythmia, Microcytic anemia, Hypergonadotropic hypogonadism... ORPHA:2959
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea, Hepatitis OMIM:219400
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelectasis, Recurrent pneu... OMIM:268500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Decreased serum testos... ORPHA:168563
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Thyroid Lymphoma
Dyspnea, Goiter, Respiratory distress, Hypothyroidism, Hashimoto thyroiditis, Upper airway obstru... ORPHA:97285
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis, Increased circulating lactate dehydrogenas... ORPHA:254361
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough, Neonatal respiratory d... OMIM:615451
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Platelet antibody positive, Autoimmune thrombocytopenia, Antineu... OMIM:601859
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:613090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormality of the testis size, Decr... ORPHA:99330
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Increased circulating renin level OMIM:612780
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Increased circulating cortisol level, Pheochromocytoma, Hypertension, Thyroid C cel... OMIM:171400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic tetany, Hyperaldosteronism, Sudden cardiac dea... ORPHA:73224
Bronchial Neuroendocrine Tumor
Wheezing, Elevated circulating growth hormone concentration, Increased circulating cortisol level... ORPHA:97287
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Pulmonary edema, Pancreatitis, Abnormal blood gas level,... ORPHA:70578
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Hypothyroidism, Elevated jugular venous pressure, Decreased serum testosterone concen... ORPHA:465508
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypok... ORPHA:320
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Cough, Respiratory... OMIM:616037
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:254210
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:602522
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Respiratory... OMIM:609981
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Abnormal T-wave, Delayed puberty, Type... ORPHA:358
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Pulmonary hypoplasia, Patent ductus arteriosus, Neonatal respiratory distress OMIM:616867
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:605809
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency OMIM:600333
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Respiratory failure, Death in infancy OMIM:619386
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity OMIM:618495
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Increase... OMIM:601678
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Emphysema, Recurrent bronchopulmonary infections, Recurren... OMIM:242700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Hypothyroidism, Cough, Hepatic ste... OMIM:619013
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Short nose, Abnormal calcium-phosphate regulating hormone level, Respiratory ... ORPHA:50810
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperins... ORPHA:276152
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:174800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Chronic bronch... OMIM:615500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Fatigable weakness of skeletal muscles, Respiratory insuffic... ORPHA:370968
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Res... OMIM:614874
Farber Disease
Respiratory distress, Elevated hepatic transaminase, Recurrent upper respiratory tract infections... ORPHA:333
Gaucher Disease Type 2
Respiratory distress, Cough, Hepatomegaly, Abnormal pattern of respiration, Recurrent respiratory... ORPHA:77260
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Increase... ORPHA:747
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:90796
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Abnormal axonem... OMIM:613808
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Breast hypoplasia, Absence of secondary sex characteristics, A... ORPHA:432
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Tetraamelia Syndrome 1
Choanal atresia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Single naris, Adrenal... OMIM:273395
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Dyspnea, Abn... ORPHA:803
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respiratory distress, Recurrent... OMIM:608644
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Decreased serum insulin-like growth factor 1, Hypergonadotropic ... OMIM:241080
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Hydrolethalus Syndrome 1
Stillbirth, Laryngeal hypoplasia, Adrenal gland dysgenesis, Tracheal stenosis, Midline defect of ... OMIM:236680
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Delayed... OMIM:305400
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Fatigable weakness of respiratory muscles, Exertional dyspnea, Or... ORPHA:98913
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Pulmonary artery atresia, Tachypnea, Cyanosis, Hypoparathyroidi... ORPHA:3426
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Autosomal Dominant Cutis Laxa
Emphysema ORPHA:90348
Complement Component 4A Deficiency
Vasculitis, Systemic lupus erythematosus OMIM:614380
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Idiopathic Neonatal Atrial Flutter
Tachypnea, Maternal diabetes, Respiratory distress ORPHA:45452
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insuffi... OMIM:300200
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Doors Syndrome
Bulbous nose, Respiratory distress, Wide nasal bridge, Congenital hypothyroidism, Aspiration pneu... ORPHA:79500
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Cystic Echinococcosis
Ovarian cyst, Elevated hepatic transaminase, Hepatic cysts, Abnormality of the testis size, Pulmo... ORPHA:400
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Str... ORPHA:3464
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Hepatomegaly, Pulmo... ORPHA:2414
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Grfoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97261
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hypot... OMIM:615486
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Short nose, Respiratory distress, Death in infancy, Neonatal respi... OMIM:615042
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Primary adrenal insufficiency, Hypothyroidism, Pleu... ORPHA:2905
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... ORPHA:2232
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Myasthenia Gravis
Acrocyanosis, Dyspnea, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Hep... ORPHA:589
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Restrictive cardiomyopathy, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Ataxia-Telangiectasia
Prematurely aged appearance, Elevated hepatic transaminase, Premature graying of hair, Abnormal t... ORPHA:100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Respiratory distress, Pulmonary fibrosis, Elevated circulating thyroi... ORPHA:209905
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Increased circulating renin l... OMIM:241200
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Gonadoblastoma
Abnormality of the ovary, Dysgerminoma, Ovarian gonadoblastoma, Increased serum testosterone level ORPHA:206484
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Increased circulating gonadotropi... ORPHA:251510
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Decreased liver function, Death in childhood, Respiratory distress OMIM:615597
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Abnormal ciliary motility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Absen... OMIM:613807
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Leprechaunism
Hyperinsulinemia, Enlarged ovaries, Central hypothyroidism, Hyperaldosteronism, Increased circula... ORPHA:508
Hyperekplexia 4
Respiratory failure OMIM:618011
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Eleva... OMIM:178500
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Reduced lysosomal acid lipase activity, Increased hepatic echoge... OMIM:278000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Gro... ORPHA:1163
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hypotens... ORPHA:95613
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:289548
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Pancreat... ORPHA:1549
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Pleural effusion, Respiratory insufficiency, Atelectasis, Hemoptys... ORPHA:340
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Fatigable weakness of respiratory muscles, Respiratory ... ORPHA:365
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldos... ORPHA:89938
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Delayed puberty, Cyanosis, Hyperlipidemia, Depressed nasal bridge, Recurr... ORPHA:293987
Polyembryoma
Increased serum testosterone level, Macroorchidism, Increased serum serotonin, Isosexual precocio... ORPHA:180229
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Respiratory distress OMIM:618006
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Elevated hepatic transaminase, Hepatic cysts, Neuroendocrine neoplasm, Int... ORPHA:100085
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Autoimmune hemolytic anemia, De... OMIM:610163
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:168558
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... ORPHA:325124
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Bro... ORPHA:420741
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Cough, Atelectasis, Wide nasal bridge, Recurrent respiratory inf... ORPHA:2314
Leigh Syndrome
Respiratory failure, Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of resp... OMIM:256000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:352447
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Mccune-Albright Syndrome
Hypophosphatemia, Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, E... ORPHA:562
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory failure, Respiratory insufficiency OMIM:602088
Niemann-Pick Disease, Type B
Dyspnea, Hepatomegaly, Hypertriglyceridemia, Diffuse reticular or finely nodular infiltrations, R... OMIM:607616
Drug Rash With Eosinophilia And Systemic Symptoms
Dyspnea, Elevated hepatic transaminase, Interstitial pneumonitis, Thyroiditis, Cough, Acute hepat... ORPHA:139402
Eosinophilopenia
Autoimmunity OMIM:131430
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Abnormal anterior horn cell morphology, Respiratory distress, Degeneration of ant... ORPHA:1145
Carcinoid Syndrome
Intestinal carcinoid, Bronchospasm, Elevated hepatic transaminase, Atypical pulmonary carcinoid t... ORPHA:100093
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated hepatic transaminase OMIM:617395
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Elevated hepatic transaminase, Purpura, Hypothyroidism, Prolonged neonatal jaundice... OMIM:225750
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress OMIM:615595
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Ovarian Fibrothecoma
Abnormal circulating hormone concentration, Abnormality of the ovary, Ovarian fibroma, Increased ... ORPHA:314478
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Esophageal Atresia
Restrictive ventilatory defect, Maternal diabetes, Episodic respiratory distress, Abnormal respir... ORPHA:1199
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Abnormality of the hepatic vasculature, Dy... ORPHA:210136
Complete Androgen Insensitivity Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Elevated circulating luteinizing... ORPHA:99429
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tra... ORPHA:51636
Zygomycosis
Air crescent sign, Pulmonary infiltrates, Parenchymal consolidation, Pleural effusion, Cough, Acu... ORPHA:73263
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614495
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Cryptorchidism, Decreased testicular size, Pneumonia ORPHA:1867
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis, Respiratory distress OMIM:160900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Respiratory distress ORPHA:26792
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Cryptorchidism, Abnormal calcium-phosphate... ORPHA:534
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Irregula... ORPHA:90060
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Respiratory insufficiency, Atelectasis, Hypoplastic nipples, Hepatomegaly, N... OMIM:269860
Nocardiosis
Abnormal sputum, Pleuritis, Respiratory distress, Dyspnea, Thyroiditis, Emphysema, Pleural effusi... ORPHA:31204
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... OMIM:604320
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity OMIM:615387
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Fa... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Fa... ORPHA:98914
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... OMIM:618620
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Decreas... OMIM:618839
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Decreas... OMIM:618835
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Telangiectasia, Depressed nasa... OMIM:608799
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Truncus Arteriosus
Adrenocortical abnormality, Anomalous origin of one pulmonary artery from ascending aorta, Pulmon... ORPHA:3384
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Decreased t... OMIM:157900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Linear Iga Dermatosis
Autoimmunity, Epistaxis ORPHA:46488
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bone marrow hypocellularity, Recurrent respiratory infections ORPHA:3226
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hemoptysis, ... ORPHA:538
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Cryptorchidism, Respiratory failure requiring assisted ventilation... OMIM:310400
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level OMIM:618838
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Alveolar Echinococcosis
Dyspnea, Pancreatic cysts, Cough, Hepatic cysts, Biliary cirrhosis, Pulmonary cyst, Jaundice, Cho... ORPHA:284
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Cough, Hepatomegaly, Spleno... ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Decreased propor... OMIM:301000
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Prolonged QRS complex, Cardiac conduct... ORPHA:273
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma, Hepatomegal... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Neuroendocrine Neoplasm Of Appendix
Palpitations, Intestinal carcinoid, Elevated hepatic transaminase, Ovarian neoplasm, Hypotension,... ORPHA:100079
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Autoimmunity,... OMIM:240500
Familial Glucocorticoid Deficiency
Cryptorchidism, Impaired cortisol response to insulin stimulation test, Decreased circulating deh... ORPHA:361
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Respiratory failure, Death in infancy ORPHA:1194
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Stt3B-Cdg
Cryptorchidism, Respiratory distress ORPHA:370924
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614496
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Generalized abnormality of skin, Respiratory distress, Elevated hepatic transaminase, ... ORPHA:367
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level... OMIM:605373
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Hemothorax, Cough, Hypoxemia, Pleural empyema, Epistaxis, Liver ab... ORPHA:2038
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Short nose, Respiratory distress, Laryngeal hypoplasia, Abnormality of the larynx... OMIM:217980
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hypovolemia, Enlarged polycystic ovaries,... ORPHA:64739
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Posterior pharyn... ORPHA:1572
Patterson Pseudoleprechaunism Syndrome
Premature adrenarche, Diabetes mellitus, Increased circulating cortisol level OMIM:169170
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Pulmonary artery hypoplasia, Delayed puberty, Hypogonadotropic hypogona... ORPHA:2326
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Abnormal enzyme/coenzyme activity, Exertional... ORPHA:98915
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections OMIM:219100
22Q11.2 Deletion Syndrome
Cryptorchidism, Abnormal lung lobation, Chronic pulmonary obstruction, Bulbous nose, Purpura, Hyp... ORPHA:567
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:177200
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Neonatal death, Pulmonary hypoplasia, Re... OMIM:266910
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Diabetes mellitus, Respiratory failure, Respiratory insufficiency OMIM:613845
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Respiratory insufficiency, Atelectasis, Hepatomegaly, Tachypnea OMIM:618278
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Succinic Acidemia
Respiratory distress OMIM:600335
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pulmonary fib... OMIM:614742
Snakebite Envenomation
Respiratory failure, Epistaxis, Hypopituitarism, Respiratory paralysis ORPHA:449285
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Increased circulating gonadotropin level, Hypothyroidism, Bilateral cryptorchidis... ORPHA:1772
Pseudohypoparathyroidism Type 1B
Dyspnea, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Pituitar... ORPHA:94089
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hepatic periportal necrosis, Hepatomegaly, Jaundice, Neo... OMIM:231680
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Eosinophilic Granulomatosis With Polyangiitis