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Gene: Nr3c1 MGI:95824

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

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 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, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Cushing Disease
Increased urinary cortisol level, Plethora, Purpura, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253

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
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Respira... OMIM:619773
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l... OMIM:613677
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ... OMIM:610600
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556037
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556030
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... ORPHA:90790
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... ORPHA:231632
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... ORPHA:70588
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:616950
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypoplasia of the ovary, ... OMIM:618841
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating gonadotropin concentration, ... OMIM:614841
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... ORPHA:171876
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency OMIM:601612
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:108420
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... OMIM:618042
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95513
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperaldosteronism, Pulm... OMIM:615474
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br... OMIM:613490
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Hypogonadism, Respiratory distress OMIM:615993
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Pneumoth... ORPHA:36238
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... ORPHA:52901
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308700
East Syndrome
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Cushing Disease
Increased urinary cortisol level, Plethora, Purpura, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... OMIM:620103
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Bartter Syndrome, Type 3
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... OMIM:607364
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Anaplasti... ORPHA:142
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema ORPHA:60
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Cryptor... OMIM:611890
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... ORPHA:168563
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia OMIM:612780
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:612387
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... ORPHA:99889
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel... OMIM:300219
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Decrea... ORPHA:79644
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Supraventricular arrhythmia, Microcytic... ORPHA:2959
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:99330
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Increased circulating lactate dehydrogenase conce... ORPHA:254361
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... ORPHA:97285
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hepatic calcification, Hy... ORPHA:73224
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... OMIM:171400
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... ORPHA:226313
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, ... ORPHA:97287
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating aldos... ORPHA:320
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Increased circulating gonado... ORPHA:755
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Adrenal hypoplasia, Progeroid facial appearance, Atelectasis, Recurrent pneumon... OMIM:613177
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Immunodeficiency 54
Recurrent respiratory infections, Respiratory insufficiency, Adrenocorticotropic hormone excess, ... OMIM:609981
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnor... OMIM:620233
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Gitelman Syndrome
Maternal diabetes, Hyperhidrosis, Hypocalcemia, Prominent U wave, Abnormal T-wave, Hashimoto thyr... ORPHA:358
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... ORPHA:90363
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency OMIM:619386
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... OMIM:601678
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... ORPHA:90795
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Severe B lymp... ORPHA:293978
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, T lymphocytopen... OMIM:619313
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Abnormal pulmonary interstit... OMIM:619013
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... OMIM:615238
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteroni... ORPHA:89938
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... OMIM:244400
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacifi... ORPHA:454836
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Absence of secondary sex char... ORPHA:432
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... OMIM:616974
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Ppoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ... ORPHA:97278
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary art... ORPHA:2414
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cough, Abnormal pattern of ... ORPHA:77260
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... ORPHA:1303
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:333
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Somatostatinoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Hypercalc... ORPHA:97283
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension OMIM:611489
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Hypothyroidism OMIM:619851
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Recurrent respiratory infections, R... ORPHA:209905
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... ORPHA:97282
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Tetraamelia Syndrome 1
Adrenal gland agenesis, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Elevated circulatin... OMIM:250790
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Tachypnea, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Dysgerminoma, Increased serum testosterone level ORPHA:206484
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... OMIM:241200
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Elevated gamma-glutamyltransferas... OMIM:278000
Hyperekplexia 4
Respiratory failure OMIM:618011
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Respiratory insufficiency ORPHA:370968
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... OMIM:614736
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Resp... ORPHA:50810
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis OMIM:620365
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, C... OMIM:615486
Hydrolethalus Syndrome 1
Stillbirth, Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Cyanosis, Maternal diabetes, Tachypnea, Anomalous pulmonary venous return, Hypoxemia ORPHA:860
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Leprechaunism
Hepatomegaly, Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldos... ORPHA:508
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Hemophagocytosis, ... OMIM:301078
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... ORPHA:2905
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Pulmonary insufficiency ORPHA:277
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Hyperhidrosis, Resp... OMIM:614299
Myasthenia Gravis
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, A... ORPHA:589
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Carcinoid Syndrome
Elevated hepatic transaminase, Asthma, Hepatic necrosis, Pulmonary carcinoid tumor, Small intesti... ORPHA:100093
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Crackles, Atelectasis, Fulminant hepatitis, ... ORPHA:319213
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... OMIM:619611
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Raynaud phenomenon, De... ORPHA:331235
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Hypercholesterolemia, Cholangitis, Liver absces... ORPHA:69663
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Zygomycosis
Diabetes mellitus, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Hepatitis, Pulmonary infiltra... ORPHA:73263
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells OMIM:620282
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Respiratory insufficiency, Periportal fibrosis, Pulmonary hypoplasia, ... OMIM:269860
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Glucagonoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Hypercalc... ORPHA:97280
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Cln3 Disease
T-wave inversion, Vacuolated lymphocytes, Bradycardia, Increased circulating androgen concentration ORPHA:228346
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Dys... ORPHA:100085
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal circulating hormone concentration, Increased ... ORPHA:314478
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Hypergonadotropic... ORPHA:352447
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Hypophosphatemia, Abnormal circ... ORPHA:534
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough ORPHA:2314
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Elevated circulat... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Elev... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:177200
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure, Respiratory distress OMIM:620166
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distress OMIM:615042
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Abnormal pleura morphology, Nodular regenerat... ORPHA:210136
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Inspiratory stridor, Ventila... OMIM:604320
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral cryptorchidism, In... ORPHA:99429
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Orthop... ORPHA:365
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration OMIM:618838
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Re... OMIM:613561
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Cadds
Elevated hepatic transaminase, Cholestasis, Cholangitis, Adrenal hypoplasia ORPHA:369942
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Isolated Atp Synthase Deficiency
Hypogonadism, Hepatomegaly, Hypothyroidism, Respiratory distress ORPHA:254913
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bone marrow hypocellularity ORPHA:3226
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Ovarian neoplasm, ... ORPHA:100079
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress OMIM:160900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Respirato... ORPHA:367
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis ORPHA:26792
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Decreased response to growth hormone st... ORPHA:293987
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta... OMIM:618278
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Erythema, Prolonged neonatal jau... OMIM:225750
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... ORPHA:3392
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Respi... ORPHA:563
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... ORPHA:254864
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... ORPHA:803
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insuffi... ORPHA:1145
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Cryptorchidism ORPHA:1194
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Maternal diabetes, ... ORPHA:1199
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Atelect... OMIM:188400
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Death in childhood OMIM:615597
Snakebite Envenomation
Hypopituitarism, Respiratory paralysis, Epistaxis, Respiratory failure ORPHA:449285
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre... OMIM:261680
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Te... OMIM:235200
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Gastrointestinal ... ORPHA:543
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Pulmonary artery hypoplasia, D... ORPHA:2326
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... OMIM:618187
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, Hydrocele testis,... ORPHA:79330
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Dyspnea, Angioedema, Erythema, Hepatitis, T... ORPHA:139402
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Acrocyanosis, Decreased testicular size ORPHA:1867
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchi... ORPHA:1772
Alveolar Echinococcosis
Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Dyspnea, Jaund... ORPHA:284
Cystic Echinococcosis
Elevated hepatic transaminase, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Abnormal p... ORPHA:400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus, Respiratory insufficiency OMIM:613845
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Hypovo... ORPHA:90794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Pulmonary Arteriovenous Malformation
Cyanosis, Liver abscess, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empye... ORPHA:2038
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia OMIM:600955
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Hypothyroidism, Bone marrow hypocellularity ORPHA:445038
Immunodeficiency, Common Variable, 1
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Cryptorchidism, Atelectasis, Asthma, Abnormal lung lobation,... ORPHA:567
Boutonneuse Fever
Increased circulating IgG level, Respiratory failure, Increased circulating IgM level ORPHA:83313
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Bruising susceptibility, Decreased testicular size, Subcutane... ORPHA:335
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Succinic Acidemia
Respiratory distress OMIM:600335
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Respiratory distress, Hyperthyro... ORPHA:37042
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Atelectasis, Recurrent pneumonia, Air bronchogram, Decreased activit... OMIM:306400
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural ef... ORPHA:36412
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Telangiectasia OMIM:608799
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Vascular skin abnormality, Acrocyanosis, Hypothyroi... ORPHA:349
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia ORPHA:100024
Alg1-Cdg
Respiratory failure ORPHA:79327
Breath-Holding Spells
Cyanosis OMIM:607578
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... OMIM:231680
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary ... ORPHA:2519
Malaria
Respiratory distress ORPHA:673
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... ORPHA:805
Stt3B-Cdg
Respiratory distress, Cryptorchidism ORPHA:370924
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... ORPHA:3309
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... ORPHA:90797
Relapsing Polychondritis
Atelectasis, Dyspnea, Erythema, Hepatitis, Cough, Abnormal pattern of respiration, Purpura ORPHA:728
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Neonatal respiratory distress, Jaundice, Elevated circulating alka... ORPHA:69665
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Increased serum serotonin, Atypical pu... ORPHA:100080
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchiectasis, Restrictive ventilator... ORPHA:1572
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Death in childhood OMIM:619847
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Episodic tachypnea,... ORPHA:26793
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnorma... ORPHA:90051
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Jaundice, Cholestasis, Xanthela... ORPHA:30391
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insuffi... ORPHA:159
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Co... ORPHA:391487
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level ORPHA:247768
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Hepatosplenomegaly, Pulmonary hypoplasia, Neonatal dea... OMIM:608013
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Decreased circ... ORPHA:125
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... ORPHA:8
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Increased DLCO... OMIM:233450
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hepatosplenomegaly, Hypogonadism, Adrenal insufficiency, Elevated ... ORPHA:300298
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respirator... ORPHA:26791
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypn... ORPHA:1329
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Recurrent respiratory infections, Respiratory distress, Hepatomegaly ORPHA:329178
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Unilateral breast hypoplasia, Abnormality... OMIM:300968
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Mgat2-Cdg
Respiratory distress, Reduced level of N-acetylglucosaminyltransferase II, Abnormality of the end... ORPHA:79329
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Hyperparathyroidism, Transient Neonatal
Elevated circulating alkaline phosphatase concentration, Ovarian cyst, Hyperparathyroidism, Respi... OMIM:618188
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Cyanosis ORPHA:391428
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Robinow Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Pulmonic stenosis ORPHA:97360
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Bronchospasm, Incr... ORPHA:100075
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... ORPHA:183
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Cyanosis ORPHA:3304
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Japanese Encephalitis
Respiratory distress, Irregular respiration, Paucity of anterior horn motor neurons, Respiratory ... ORPHA:79139
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Abnormal circulating enzyme concentration or activity, Neonatal respiratory... ORPHA:98915
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Orthopne... ORPHA:980
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Abnormal pulmonary ... ORPHA:781
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hepatomegaly OMIM:619383
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pne... OMIM:607143
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Neonatal death,... OMIM:617248
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Tachypnea, Polycystic ovaries, Cough, Pulmonary edema ORPHA:137675
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Elevated circulating aspartate aminotr... OMIM:256810
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory failure, Respiratory insufficiency ORPHA:746
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Decreased serum testosterone concentration ORPHA:495875
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Adrenal calc... ORPHA:275761
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypoplasia OMIM:619879
Congenital Enterovirus Infection
Respiratory distress, Hepatitis, Cholestasis, Pleural effusion, Hepatic failure ORPHA:292
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... ORPHA:141127
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Respiratory distress, Cutis marmorata, Cholangitis, Pulmonary embo... ORPHA:3260
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly ORPHA:289916
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Abnormal liver lobulation, Pulmonary hypoplasia,... OMIM:608022
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ... OMIM:617303
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Respiratory failu... OMIM:610505
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Tarp Syndrome
Cryptorchidism, Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... ORPHA:1359
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly ORPHA:79312
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Coccidioidomycosis
Respiratory distress, Pneumonia, Abnormality of the endocrine system, Pulmonary infiltrates, Abno... ORPHA:228123
Chand Syndrome
Atelectasis ORPHA:1401
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ... ORPHA:177907
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Buerger Disease
Acrocyanosis ORPHA:36258
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Respirato... ORPHA:537
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema ORPHA:31826
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia, Emphysema, Abnormality of ... ORPHA:363618
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Respiratory failure OMIM:620327
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Double Outlet Left Ventricle
Cryptorchidism, Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly ORPHA:927
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Dravet Syndrome
Cyanotic episode ORPHA:33069
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Pulmonary artery stenosis, Bi... ORPHA:2255
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Hepatitis, Ec... ORPHA:36234
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial m... OMIM:181000
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Jaundice, ... ORPHA:567983
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... OMIM:620005
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Respiratory distress, Microvesicular hepatic ste... OMIM:617156
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Bile duct proliferation, Respiratory insufficiency OMIM:618329
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Pulmonary fibrosis OMIM:612852
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Hyperhidrosis, Respiratory failure, Cough, P... ORPHA:340
Cocaine Intoxication
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... ORPHA:90068
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Cryptorchidism, Emphysema, Breast hypoplasia OMIM:224690
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Dyspnea, Pulmonary edema OMIM:115197
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... ORPHA:363705
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... OMIM:245150
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Annular pancreas, Pulmonary arterial hypertension ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, ... OMIM:252010
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Acquired Purpura Fulminans
Acrocyanosis, Hepatic failure, Macular purpura ORPHA:49566
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Ectopic thyroid, Hypothyroidism ORPHA:3206
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Emphysem... OMIM:616835
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cirrhosis, Cough, Pl... ORPHA:1546
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Hepatic steatosis OMIM:616271
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Abnormality of the endocrine system, Myocarditis, Conge... ORPHA:3385
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Absent circulating B cells, Delayed puberty OMIM:307200
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Elevated alkaline phosphatase of bone origin, Adrenal calcificati... ORPHA:51608
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal circulating enzyme conc... ORPHA:17
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism ORPHA:1555
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Upper... ORPHA:740
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Rhinitis, H... OMIM:305100
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido... ORPHA:79404
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cutis marmorata, Hepatosplenomegaly, Prolonged ... ORPHA:51
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly OMIM:251000
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Acrocyanosis, Abnormal pattern of respiration, Hyperventila... ORPHA:2896
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Respiratory distress,... OMIM:260400
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Vasculitis in the skin, ... ORPHA:48435
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Cryptorchidism, B lymphocytopenia, Hypocholesterole... ORPHA:79324
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Cyanosis, Biliary atresia, Total ano... OMIM:306955
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Hepatosplenomegaly, Stridor, Pulmonary ar... ORPHA:505248
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Adnp Syndrome
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration ORPHA:404448
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... ORPHA:90349
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism, Pulmonary hypopl... ORPHA:798
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Pulmonary hypoplasia, Ch... ORPHA:83617
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cyanosis, Respiratory failu... ORPHA:99125
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmo... ORPHA:3404
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cryptorchidism, Dyspnea, Respiratory failure, Breast aplasia ORPHA:2554
Biotinidase Deficiency
Respiratory distress, Decreased circulating biotinidase concentration, Apnea, Hyperventilation ORPHA:79241
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy... ORPHA:731
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Patent ductus arteriosus, Respiratory failure OMIM:300868
Abetalipoproteinemia
Respiratory failure, Hypothyroidism ORPHA:14
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Recurrent respiratory infections, Respiratory distress, Hepatomega... OMIM:615273
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Cyanosis, Increased pulmonary vascular resistance, Wheezing, ... ORPHA:97214
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Oromandibular Dystonia
Respiratory distress ORPHA:93958
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Abnormal lung lobation ORPHA:508488
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Respiratory ... OMIM:180849
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory failure, Pulm... ORPHA:96334
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Leptospirosis
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Cough, Elevated serum transaminases duri... ORPHA:509
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Flushing ORPHA:2131
Sarcoidosis
Hepatomegaly, Abnormal nasal mucosa morphology, Hyperthyroidism, Diabetes insipidus, Abnormal ple... ORPHA:797
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Patent ductus arteriosus after birth at term, Secretory IgA deficiency,... ORPHA:500150
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia OMIM:300755
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Abnormal circulating thyroid hormone concentration, Cyst of the ductus chol... ORPHA:480880
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism ORPHA:79282
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T... OMIM:251260
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Abnormality of Krebs cycle metabolism, Dyspnea, Episodic respiratory distres... ORPHA:255210
Myhre Syndrome
Patent ductus arteriosus, Respiratory failure, Respiratory insufficiency OMIM:139210
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Hypogonadotropic hypogonadism, Elevated circ... ORPHA:79318
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Abnormal circulating calcium-phosphate regulating hormone concentration, Respiratory fai... ORPHA:2636
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure, Abnormal testis morphology ORPHA:2556
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Hepatic hemangioma, Petechiae, Purpura ORPHA:2330
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Vascul... OMIM:619381
Primary Hyperoxaluria
Elevated hepatic transaminase, Acrocyanosis, Cutis marmorata ORPHA:416
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Plague
Acute infectious pneumonia, Hepatomegaly, Respiratory distress ORPHA:707
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Isolated Arrhinia
Respiratory distress ORPHA:1134
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly OMIM:617088
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia 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 Nr3c1

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 Nr3c1.

No publications found that use IMPC mice or data for Nr3c1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nr3c1tm42503(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nr3c1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nr3c1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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