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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nr3c1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Hyperaldosteronism, Familial, Type Iv
Elevated aldosterone:renin ratio, Hypertension, Hyperaldosteronism OMIM:617027
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, H... ORPHA:403
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal ... ORPHA:404
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension, Hyperaldosteronism OMIM:605635
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Hyperaldostero... OMIM:613677
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypertension, Abnormal circulating renin, Glucocortocoid-inse... ORPHA:251274
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal... OMIM:219080
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating cort... ORPHA:556037
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ... OMIM:610600
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating cort... ORPHA:556030
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increas... OMIM:177735
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism OMIM:620125
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Hyponat... OMIM:264350
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Neoplasm of the adrenal gland, Decreased circulating renin level, Hypertension, Gluc... ORPHA:231625
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Abnormal circulating renin, Hypertension, Pulmonary arterial hypertension, Adrenal h... ORPHA:369929
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortis... ORPHA:90790
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Ground-glass opacification, Decre... OMIM:610978
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Increased circulating renin level, Hyponatremia, Hyperkalemia, Hyperaldosteronism OMIM:620126
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte... ORPHA:90793
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis ORPHA:96181
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Hyperli... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, H... ORPHA:786
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:301077
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l... ORPHA:90791
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614897
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Dietary Iron Overload Disease
Abnormal adrenal morphology, Congestive heart failure, Increased circulating ferritin concentrati... ORPHA:139507
Birt-Hogg-Dubé Syndrome
Pneumothorax, Emphysema, Pulmonary sequestration, Parathyroid adenoma, Medullary thyroid carcinoma ORPHA:122
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-in... ORPHA:231632
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, C... OMIM:618841
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Perinuclear antineutrophil antib... OMIM:614420
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Cholelithiasis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:171876
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Decreased circulating luteinizing hormone level, Testicular microlithiasis, Andr... OMIM:228300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased... OMIM:618042
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi... ORPHA:922
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor... ORPHA:70589
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis OMIM:604571
Acute Interstitial Pneumonia
Ground-glass opacification, Cyanosis, Atelectasis, Pleural effusion, Parenchymal consolidation, D... ORPHA:79126
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Normochromic anemia, Pituit... ORPHA:95512
Hypoadrenocorticism, Familial
Apnea, Adrenal hypoplasia, Cyanosis, Adrenal insufficiency OMIM:240200
Panhypophysitis
Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,... ORPHA:95513
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Pulmonary arterial hypertension, Pr... OMIM:615474
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:163971
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia OMIM:202150
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Death in infancy, Neonatal death, Interlobular septal th... OMIM:265120
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Splenomegaly, Panacinar emphysema OMIM:613490
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Recurrent upper respiratory tract infections, Desquamative interstitial pneu... OMIM:263000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Delayed menarche, Testicular atrophy, Female hypogonadism, Gonadotropin deficien... ORPHA:52901
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... OMIM:214700
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten... OMIM:615962
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Spermatogenic Failure 44
Decreased testicular size, Abnormal circulating testosterone concentration OMIM:619044
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Hypogonadism, Respiratory distress OMIM:615993
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R... OMIM:608647
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308700
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Hypotension, Prolonged neonatal jaundice, Hyponatremia, Decreased circulating... ORPHA:199296
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
East Syndrome
Increased circulating renin level, Hypokalemia, Hypomagnesemia, Hyperaldosteronism ORPHA:199343
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Diabetes mellitus ORPHA:140896
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Cushing Disease
Purpura, Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell aden... ORPHA:96253
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Cryptorchidism, Abnormal circulating test... OMIM:620103
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia, Respir... OMIM:245590
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Decreased testicular si... ORPHA:261534
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypotension, Increased circu... OMIM:607364
Pneumocystosis
Respiratory failure requiring assisted ventilation, Increased circulating antibody level, Acute i... ORPHA:723
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD8-positive T cells, ... OMIM:619802
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T... ORPHA:70587
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De... ORPHA:95699
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... ORPHA:79644
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormal circulating estrogen level OMIM:619009
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Respiratory distress, Bilateral cryptorchidism, Death in infancy, Unilateral cryptor... OMIM:300219
Acth Deficiency, Isolated
Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone deficiency, Decreased circ... OMIM:201400
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Decreased serum estradiol, Increased circulating gonadotropin level, Streak ov... ORPHA:168563
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Neonatal death, R... OMIM:611890
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hypertension, Increased circulating renin level, Hypomagnesemia, Hyperaldosteronism OMIM:612780
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneu... OMIM:610913
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imagin... ORPHA:2902
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
C1Q Deficiency 2
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis, Bronchiolitis, Increased circulating lactate dehydrogenase conce... ORPHA:254361
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Supraventricular arrhythmia, Hypergonadotropic hypogon... ORPHA:2959
Anaplastic Thyroid Carcinoma
Respiratory distress, Anaplastic thyroid carcinoma, Dyspnea, Neoplasm of the lung, Nodular goiter... ORPHA:142
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Glucocorticoid Deficiency 3
Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve... OMIM:609197
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... OMIM:601859
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Hypocalcemia, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, ... ORPHA:73224
Bronchial Neuroendocrine Tumor
Hepatomegaly, Palpitations, Hypotension, Hepatic failure, Tricuspid regurgitation, Pulmonary carc... ORPHA:97287
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Hypertension, Elevated circulating calcitonin conce... OMIM:171400
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Hypertension, Decreased circulating aldosterone l... ORPHA:320
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism OMIM:613090
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado... ORPHA:755
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Testicular atrophy, P... ORPHA:465508
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Decreased cirrculating antimullerian hormone circu... OMIM:619146
Immunodeficiency 54
Adrenocorticotropic hormone excess, Respiratory insufficiency, Respiratory failure, Recurrent res... OMIM:609981
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Congenital ... ORPHA:226313
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pa... ORPHA:2032
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc... ORPHA:254875
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... ORPHA:3044
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Atelectasis, Emphysema, Adrenal hypoplasia, Hypoplasia of the thymus, Death i... OMIM:613177
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... OMIM:605373
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Lipoid pneumonia OMIM:620326
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotensi... OMIM:611489
Thyroid Lymphoma
Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating prealbumin concentration, Right ventricular failure, Secondary h... ORPHA:90363
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Hepatosplenomegaly, Aplasi... OMIM:242700
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Hyperhidrosis... ORPHA:358
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Adrenal insufficiency, Death in infancy OMIM:619386
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Respiratory failure, Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
High Altitude Pulmonary Edema
Pulmonary edema, Pulmonary opacity, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal... OMIM:601678
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis OMIM:620365
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Pleural Mesothelioma
Hepatomegaly, Respiratory distress, Pleural effusion, Dyspnea, Abnormal lung morphology, Abnormal... ORPHA:50251
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Acute pancreatitis, Diffuse alveolar hemorrhage, Pneu... ORPHA:178320
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Hypophosphatasia
Emphysema ORPHA:436
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Hypertension, Increased C-peptide lev... OMIM:615238
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the o... ORPHA:432
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Pituitary growth hormone cell adenoma, Pituitary corticotropic cell ... ORPHA:913
Cryptogenic Organizing Pneumonia
Pneumothorax, Ground-glass opacification, Respiratory distress, Dyspnea, Parenchymal consolidatio... ORPHA:1302
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Respiratory distress, Elevated circulating alanine aminotransferase con... OMIM:616974
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary... OMIM:300200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:605115
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Bronchitis, Hepatomegaly, Emphysema ORPHA:60
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Ppoma
Gastrointestinal hemorrhage, Increased circulating gonadotropin level, Neoplasm of the pancreas, ... ORPHA:97278
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Pulmonary Alveolar Microlithiasis
Pneumothorax, Ground-glass opacification, Pleural thickening, Hepatomegaly, Cyanosis, Exertional ... ORPHA:60025
Nelson Syndrome
Anterior hypopituitarism, Secondary hypercortisolism, Diabetes insipidus, Adrenocorticotropic hor... ORPHA:199244
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polyposis, Bronchiectasis, Pne... OMIM:244400
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure OMIM:614399
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis... OMIM:620233
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Somatostatinoma
Steatorrhea, Increased circulating gonadotropin level, Neoplasm of the pancreas, Intrahepatic cho... ORPHA:97283
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Farber Disease
Elevated circulating hepatic transaminase concentration, Atelectasis, Abnormal circulating enzyme... ORPHA:333
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Hepatomegaly, Respiratory dist... ORPHA:77260
Idiopathic Neonatal Atrial Flutter
Tachypnea, Maternal diabetes, Respiratory distress ORPHA:45452
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Avian Influenza
Pneumothorax, Ground-glass opacification, Elevated circulating hepatic transaminase concentration... ORPHA:454836
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Double Outlet Right Ventricle
Hypoparathyroidism, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Tachypnea, Cyanosis ORPHA:3426
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary edema, Pulmonary capillary hemangiomatosis, Centrilobular g... ORPHA:199241
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Ataxia-Telangiectasia
Delayed puberty, Premature graying of hair, Elevated circulating hepatic transaminase concentrati... ORPHA:100
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Doors Syndrome
Adrenal hyperplasia, Respiratory distress, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Adult Acute Respiratory Distress Syndrome
Pneumonia, Respiratory failure, Pancreatitis, Pulmonary edema ORPHA:70578
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation OMIM:300770
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrost... OMIM:250790
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Vipoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Intrahepatic cholestasis, Hep... ORPHA:97282
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic tr... OMIM:619013
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism OMIM:602522
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Bartter Syndrome Type 4
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... ORPHA:89938
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Hyperlipidemia, ... OMIM:241080
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Intercostal retractions, Respiratory distress, Diffuse reticular or f... ORPHA:91359
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis OMIM:273395
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pulmonary fibrosis, Nodular pat... ORPHA:99931
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnorma... ORPHA:3464
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Cryptorchidism ORPHA:370968
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr... OMIM:614736
Gonadoblastoma
Ovarian gonadoblastoma, Dysgerminoma, Increased serum testosterone level, Abnormality of the ovary ORPHA:206484
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Death in infancy, Increased circulating lactate dehydrogenase ... OMIM:278000
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal... OMIM:241200
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, Pituitary adenoma, Parat... ORPHA:97261
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pneumonia, Respiratory failure ORPHA:449280
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Hypothyro... OMIM:620430
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Pleural effusion, Cyanosis ORPHA:2414
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased c... ORPHA:251510
Hyperekplexia 4
Respiratory failure OMIM:618011
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Respiratory t... ORPHA:244
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:289548
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Adrenal gland dysgenesis OMIM:236680
Lymphatic Malformation 12
Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory tract infections,... OMIM:620014
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Maternal diabetes, Hepatomegaly, Hypoxemia, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Poems Syndrome
Hepatomegaly, Abnormality of the endocrine system, Pleural effusion, Hypothyroidism, Plethora, Pr... ORPHA:2905
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Resp... ORPHA:50810
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... OMIM:301078
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Hypokalemia, Hypertrophic cardiomyopathy, Increased circulating r... ORPHA:508
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:168558
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r... OMIM:610910
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal pulmonary interstitial m... ORPHA:209905
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Pneumonia, Recurrent sinusitis, Bronchiectasis OMIM:618695
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Pulmonary insufficiency, Lymphopenia, T lymphocytopenia ORPHA:277
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Ovarian Dysgenesis 7
Delayed puberty, Decreased serum estradiol, Elevated circulating follicle stimulating hormone lev... OMIM:618117
Myasthenia Gravis
Dyspnea, Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnormal thymus m... ORPHA:589
Functioning Gonadotropic Adenoma
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:91348
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell... OMIM:619705
Selective Igm Deficiency
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-posi... ORPHA:331235
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Tachypnea, Hypoxemia, Apnea, Pulmonary hypoplasia, Recurrent respiratory ... ORPHA:2257
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Absent testis, Decreased serum testos... ORPHA:325124
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal... OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal... OMIM:618126
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Intraalveolar phospholipid a... OMIM:615486
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphat... ORPHA:100085
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Pulmonary fibrosis, Respiratory ... OMIM:607625
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Increased serum testosterone level, Macroorchidism, Cholest... ORPHA:562
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla OMIM:619632
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Ovarian Fibrothecoma
Ovarian fibroma, Increased serum testosterone level, Abnormality of the ovary, Abnormal circulati... ORPHA:314478
Glucagonoma
Steatorrhea, Increased circulating gonadotropin level, Neoplasm of the pancreas, Intrahepatic cho... ORPHA:97280
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis ORPHA:411703
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism OMIM:614495
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Bronchitis, Neonatal... ORPHA:420741
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... OMIM:603554
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Increased circulating lac... ORPHA:747
Cardiomyopathy, Dilated, 2H
Neonatal death, Cardiorespiratory arrest OMIM:620203
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Tachypnea ORPHA:264675
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ... ORPHA:99429
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypokal... ORPHA:534
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Lujo Hemorrhagic Fever
Purpura, Elevated circulating hepatic transaminase concentration, Atelectasis, Respiratory distre... ORPHA:319213
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Cardiomyopathy, Elevated circulat... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618835
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Liddle Syndrome 1
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal... OMIM:177200
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Hypergonadotropic hypogona... ORPHA:352447
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614837
Zygomycosis
Pneumothorax, Atelectasis, Acute infectious pneumonia, Pleural effusion, Parenchymal consolidatio... ORPHA:73263
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Death in childhood, Respiratory distress OMIM:615597
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Bone marrow hypocellularity ORPHA:3226
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration OMIM:618838
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
46,Xx Sex Reversal 2
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:278850
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Cyanosis, Transient Neonatal
Jaundice, Cyanosis, Hepatomegaly OMIM:613977
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Hypoplastic nipples, Neonatal death, Pulmonary hy... OMIM:269860
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level... OMIM:619834
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Decreased circulating cortisol level, Elevated circulating proinsulin concentrat... OMIM:600955
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Elevated circulating luteinizin... OMIM:229070
Cadds
Cholestasis, Adrenal hypoplasia, Elevated circulating hepatic transaminase concentration, Cholang... ORPHA:369942
Isolated Atp Synthase Deficiency
Hypothyroidism, Hepatomegaly, Hypogonadism, Respiratory distress ORPHA:254913
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Hyperhidrosis, Death in infancy OMIM:614299
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Adrenocortical abnormality, Pulmonary artery atresia, Hy... ORPHA:3384
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress ORPHA:168486
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism, Respiratory distress OMIM:160900
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections ORPHA:2759
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Hepatocellular necrosis OMIM:256000
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco... ORPHA:100079
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent ... OMIM:615067
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts, Elevate... OMIM:261680
Multiple Endocrine Neoplasia Type 1
Hematemesis, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Hypertension... ORPHA:652
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Pneumonia, Cryptorchidism, Acrocyanosis ORPHA:1867
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure ORPHA:2254
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory distress OMIM:620166
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Generalized abnormality of skin, Recurrent respiratory infections, Atelectasis ORPHA:2314
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo... OMIM:614492
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Respiratory distress ORPHA:26792
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage ORPHA:238459
Steinert Myotonic Dystrophy
Ovarian carcinoma, Decreased response to growth hormone stimulation test, Abnormality of thyroid ... ORPHA:273
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Elevated circulating hepatic transaminase concentration, Death in infancy OMIM:615042
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Cryptorchidism, Death in infancy ORPHA:1194
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress ORPHA:596
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism OMIM:614496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hypotension, Hypertrophic cardiomyopa... ORPHA:361
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Vasculitis, Abnormal T cell count... OMIM:308240
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Tularemia
Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pleural effusion, Pneumonia, P... ORPHA:3392
Mogs-Cdg
Hypoventilation, Pulmonary edema, Hepatomegaly, Respiratory distress, Inappropriate antidiuretic ... ORPHA:79330
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... ORPHA:48377
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology, Resp... ORPHA:1145
Common Variable Immunodeficiency
Emphysema, Recurrent bronchitis, Bronchiectasis, Splenomegaly, Pneumonia, Recurrent respiratory i... ORPHA:1572
Premature Ovarian Failure 8
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Elevated circulating l... OMIM:615723
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress OMIM:613561
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Capillary leak, Hemorrhagic ovarian cyst, Enlarged polycystic... ORPHA:64739
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Abnormality of alkaline phosphatase level, Elevated circulating alanine ami... OMIM:620375
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Decreased testicular size... ORPHA:2326
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Whim Syndrome
Atelectasis, Parotitis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurre... ORPHA:51636
Aicardi-Goutieres Syndrome 1
Purpura, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diabetes insipidu... OMIM:225750
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, B lymphocytopenia, Thyroiditis, T lymphocytopenia, Hypothyroidism, H... OMIM:606367
Hypocomplementemic Urticarial Vasculitis
Pleural effusion, Hepatomegaly, Emphysema, Splenomegaly ORPHA:36412
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Generalized abnormality of skin, Cirrhosis, Hepatomegaly, Elevated circ... ORPHA:367
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Exertional dyspnea, Abnormal circulating enzyme concentration or activ... ORPHA:365
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai... OMIM:301000
Ovarian Dysgenesis 8
Decreased serum estradiol, Decreased cirrculating antimullerian hormone circulation, Elevated cir... OMIM:618187
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Burkitt Lymphoma
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormality of ... ORPHA:543
45,X/46,Xy Mixed Gonadal Dysgenesis