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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
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... 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
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... OMIM:103900
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Abnormal circul... ORPHA:404
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:403
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism, Hypertension OMIM:605635
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Hypertension OMIM:617027
Immunodeficiency 95
Increased circulating IgG3 level, Respiratory distress, Decreased circulating IgG3 level, Respira... OMIM:619773
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension, Adrenal hyperpl... OMIM:613677
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Adrenal hyperpl... ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:201910
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Primary hypercortisolism... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Increas... OMIM:610600
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Late-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... ORPHA:556037
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Retinal telangiectasia, Decreased circulating IgG level OMIM:267900
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren... OMIM:177735
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Early-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... ORPHA:556030
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Hyponatremia, Hyperactive... OMIM:264350
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... ORPHA:1501
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased proportion of C... ORPHA:66628
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Adrena... ORPHA:369929
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased proportion of C... ORPHA:179494
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Oxygen desaturation on exertion, Compensated hypothyroidism, Crackles, W... OMIM:610978
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... ORPHA:231625
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure OMIM:253300
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Jaundice,... ORPHA:90790
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231632
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... ORPHA:70588
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia ORPHA:96181
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respiratory tract in... OMIM:263000
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonproductive coug... ORPHA:2302
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614839
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:301077
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... ORPHA:90791
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy OMIM:611722
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614897
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... ORPHA:163976
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
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
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased cirrcu... OMIM:273250
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Increased circulating antibody level, Interstitial... ORPHA:723
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Decreased c... OMIM:618042
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased testicular size, Decreased circulating gonadotropin concentr... OMIM:614841
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod... OMIM:614420
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:616950
Acute Interstitial Pneumonia
Pulmonary infiltrates, Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... ORPHA:79126
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Decreased circulating dihydrotestosterone concentration, Androgen insu... OMIM:228300
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Hypoadrenocorticism, Familial
Adrenal insufficiency, Cyanosis, Apnea, Adrenal hypoplasia OMIM:240200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Diabetes mellitus, Dyspnea, Cough, Respiratory failure requiring... ORPHA:140896
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... ORPHA:163971
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Restrictive ventilatory defect, Cough, Abn... ORPHA:724
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... OMIM:618781
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Primary hyperald... OMIM:615474
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism OMIM:202150
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... OMIM:214700
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, ... OMIM:613490
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:108420
Staphylococcal Necrotizing Pneumonia
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi... ORPHA:36238
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress, Hypogonadism OMIM:615993
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura... ORPHA:2902
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... ORPHA:70587
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of ... OMIM:611926
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Emphysema, Bronchiolitis OMIM:604571
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
East Syndrome
Hypokalemia, Hyperaldosteronism, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis, Adrenal gland agenesis OMIM:611812
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Hyperaldosteronism, Abnormal T-wave, Ven... ORPHA:37553
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough ORPHA:1164
Pulmonary Hemosiderosis
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Anaplastic Thyroid Carcinoma
Nodular goiter, Respiratory distress, Anaplastic thyroid carcinoma, Upper airway obstruction, Dys... ORPHA:142
Bartter Syndrome, Type 3
Hypotension, Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hyperchloriduria... OMIM:607364
Congenital Myopathy 14
Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... OMIM:610475
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:615842
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy ORPHA:139406
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Male hy... ORPHA:261534
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... ORPHA:96253
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema ORPHA:60
Spermatogenic Failure 77
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:620103
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Adrenocorticotropin d... ORPHA:199296
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Adrenocorticotropic hormone deficien... OMIM:201400
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Bilateral cryptorchidism, Respiratory distress, Unilateral cryptorchidism, Neon... OMIM:300219
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Respiratory distress, Lymphocytic intersti... OMIM:245590
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Cryptorchidism, Respiratory failure, Neonatal death, Abno... OMIM:611890
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... ORPHA:95699
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Increased circulating gonadotropin level, Decreased... ORPHA:168563
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Hypokalemia, Hypertension, Increased circulating renin level, Hypomagnesemia OMIM:612780
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Productive cough, Respiratory insufficiency due to defective ... OMIM:615451
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Vasculitis... OMIM:601859
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, T lymphocytopenia, Neoplasm of the pancreas, Supraventricular arrhythm... ORPHA:2959
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... ORPHA:99889
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Male hy... ORPHA:99330
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Thyroid Lymphoma
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... ORPHA:97285
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Pulmonary fibrosis, Increased circulating lactate dehydrogenase concentration... ORPHA:254361
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Hyperaldosteronism, Hypocalcemic tetany, Congestive heart failure, Dilated ... ORPHA:73224
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Multiple Endocrine Neoplasia, Type Iia
Parathyroid adenoma, Increased circulating cortisol level, Hypertension, Pheochromocytoma, Elevat... OMIM:171400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:613090
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Respiratory failure, Pulmonary hypoplasia, Neonatal respiratory distress OMIM:616867
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Elevated jugular venous pressure, Congestive heart failure, Testicular atrophy, D... ORPHA:465508
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Respiratory failure, Apnea OMIM:610127
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Ciliary Dyskinesia, Primary, 27
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615504
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased c... ORPHA:226313
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Cough, Bronchogenic cyst, Pneumonia, Atelect... ORPHA:2357
Leydig Cell Hypoplasia
Primary gonadal insufficiency, Testicular gonadoblastoma, Female hypogonadism, Hyoplasia of the L... ORPHA:755
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hepatic failure, Facial telangiectasia, Increased cir... ORPHA:97287
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia, Pa... ORPHA:70578
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased cirrculating... OMIM:619146
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... ORPHA:99931
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia,... OMIM:613177
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,... OMIM:608644
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Type I diabetes mellitus, Absent circulating B cells OMIM:619707
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Respiratory... OMIM:609981
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:605115
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Elevated circulating luteini... ORPHA:3044
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
Ciliary Dyskinesia, Primary, 28
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615505
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Immunodeficiency 102
Hypothyroidism, Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutrop... OMIM:301082
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Paragangliomas 3
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... OMIM:605373
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... OMIM:612649
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Paragangliomas 1
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... OMIM:168000
Scedosporiosis
Bronchitis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Sinusitis, Cough,... ORPHA:449280
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Respiratory failure, Death in infancy OMIM:619386
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transfer... ORPHA:90363
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Hyperhidrosis, Type ... ORPHA:358
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Low-to-normal blood pressure, ... OMIM:601678
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Restrictive ventilatory d... OMIM:300770
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614842
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Cyanosis, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Oxy... ORPHA:60025
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, Neutropenia, B lymphocytopenia OMIM:613107
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone level, Premature thelarche... ORPHA:90795
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation t... ORPHA:293978
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... OMIM:245400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno... ORPHA:913
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... OMIM:615481
Bartter Syndrome Type 4
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypertension, Hypochloremia, ... ORPHA:89938
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Hypertension, Hepatic steatosis, Decreased seru... OMIM:615238
Primary Ciliary Dyskinesia
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... ORPHA:244
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Abnormal pulmonary interstitial morphology, Hypopituitarism, Elevated hepatic tra... OMIM:619013
Aarskog-Scott Syndrome
Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular atrophy, Delayed... OMIM:305400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Chronic... OMIM:244400
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... OMIM:610910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Ppoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97278
Avian Influenza
Pulmonary infiltrates, Respiratory failure, Pneumothorax, Productive cough, Hepatitis, Elevated h... ORPHA:454836
Non-Functioning Pituitary Adenoma
Hypotension, Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin ... ORPHA:91349
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... ORPHA:90796
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating alanine aminotransferase concentration, Death in infancy, Respiratory distre... OMIM:616974
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Respiratory distress, Reduced forced vital capacity... ORPHA:91359
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreas... ORPHA:432
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Somatostatinoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97283
Ciliary Dyskinesia, Primary, 26
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615500
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... OMIM:616037
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Hyponatremia, Adrenal insufficiency,... OMIM:300200
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough, Hepatomegaly, Recurrent respiratory... ORPHA:77260
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Nelson Syndrome
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... ORPHA:199244
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Chronic pulmonary obstruction, Respiratory distress, P... ORPHA:2414
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... ORPHA:1303
Farber Disease
Respiratory insufficiency, Hepatic fibrosis, Hepatic failure, Nodular pattern on pulmonary HRCT, ... ORPHA:333
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension OMIM:611489
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Vipoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... ORPHA:97282
Fanconi Renotubular Syndrome 5
Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Respiratory distress, Tachypnea ORPHA:45452
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Type I diabetes me... OMIM:618549
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Woodhouse-Sakati Syndrome
Abnormal T-wave, Elevated circulating thyroid-stimulating hormone concentration, Decreased testic... OMIM:241080
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Decreased serum estradiol, Aplasia of the ovary, Absence of second... ORPHA:2232
Grfoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... ORPHA:97261
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulatin... OMIM:250790
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Adrenal gland agenesis OMIM:273395
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... ORPHA:747
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... ORPHA:2257
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress OMIM:619003
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:145260
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol OMIM:618723
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Hemothorax, Pulmonary edema, Centrilobular ground-g... ORPHA:199241
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Cryptorchidism ORPHA:370968
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Double Outlet Right Ventricle
Cyanosis, Aplasia/Hypoplasia of the thymus, Hypoparathyroidism, Pulmonary artery atresia, Tachypnea ORPHA:3426
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:602522
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Polyembryoma
Macroorchidism, Isosexual precocious puberty, Increased serum testosterone level, Increased serum... ORPHA:180229
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:3464
Gonadoblastoma
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Dysgerminoma ORPHA:206484
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Low-to-normal blood pressure, ... OMIM:241200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Doors Syndrome
Congenital hypothyroidism, Aspiration pneumonia, Respiratory distress, Adrenal hyperplasia ORPHA:79500
Hyperekplexia 4
Respiratory failure OMIM:618011
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hyponatremia, Increased circulating ACTH level, Decreased circulating cortiso... OMIM:614736
Hypophosphatasia
Respiratory insufficiency, Emphysema ORPHA:436
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent bronchopulmonary infections, Emphysema, Hepatosplenomegaly, Recurrent p... OMIM:242700
46,Xy Partial Gonadal Dysgenesis
Primary gonadal insufficiency, Testicular gonadoblastoma, Decreased serum estradiol, Absence of s... ORPHA:251510
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Thyroid hemiagenesis, Abnormal pulmonary interstitial morphology... ORPHA:209905
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:50810
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure ORPHA:168486
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Hypovol... ORPHA:289548
Interstitial Lung And Liver Disease
Respiratory insufficiency, Hypothyroidism, Abnormal pulmonary interstitial morphology, Intraalveo... OMIM:615486
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Hypokalemia, Increased circulating ... ORPHA:508
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hemophagocytosis, Bone ... OMIM:301078
Pituitary Apoplexy
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... ORPHA:95613
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Poems Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... ORPHA:2905
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Death in adolescence, Pleural thickening,... OMIM:620014
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return, Hepatomegaly, Tachypnea ORPHA:860
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hyperhidrosis, Death in infancy, Respiratory distress, Respiratory fai... OMIM:614299
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Hydrolethalus Syndrome 1
Abnormal lung lobation, Adrenal gland dysgenesis, Stillbirth OMIM:236680
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... ORPHA:2004
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Wolff-Parkinson-White syndrome, Absent circulating B cells, Hypertrophic cardi... OMIM:619705
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia ORPHA:277
Myasthenia Gravis
Hyperthyroidism, Hepatitis, Acrocyanosis, Primary adrenal insufficiency, Abnormality of the thymu... ORPHA:589
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Hypovol... ORPHA:168558
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... OMIM:607625
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Recurren... ORPHA:420741
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Carcinoid Syndrome
Facial telangiectasia, Asthma, Hepatic necrosis, Increased serum serotonin, Atypical pulmonary ca... ORPHA:100093
Lujo Hemorrhagic Fever
Rhinitis, Fulminant hepatitis, Elevated hepatic transaminase, Respiratory distress, Purpura, Ecch... ORPHA:319213
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... OMIM:605711
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Testicular Agenesis
Absent testis, Increased circulating gonadotropin level, Vanishing testis, Decreased serum testos... ORPHA:325124
Leigh Syndrome
Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of respiration, Respiratory ... OMIM:256000
Zygomycosis
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Hepatitis, Pleural effusion, Diab... ORPHA:73263
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia, Decreased circulating aldosterone l... OMIM:618114
Selective Igm Deficiency
Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodies, Raynaud phenomenon, Decr... ORPHA:331235
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Glucagonoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97280
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Decreased circulating follicle stimulating hormone concentration, Elev... OMIM:229070
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor, Degeneration of anterior horn cells ORPHA:2254
Mccune-Albright Syndrome
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidis... ORPHA:562
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Pancreatitis, He... ORPHA:69663
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Hypertension, Myocardial infarction, Increased LDL cholesterol concent... OMIM:618620
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Hypergonadotropic hypogonadism, Respiratory insufficiency due to mu... ORPHA:352447
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Neonatal death, Periportal fibrosis, Pulmonary hypoplasia, Hepatomegal... OMIM:269860
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Facial telangiectasia, Elevated alkaline phosphatase of hepatic origin, In... ORPHA:100085
Ovarian Fibrothecoma
Abnormal circulating hormone concentration, Ovarian fibroma, Abnormality of the ovary, Increased ... ORPHA:314478
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614495
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... OMIM:603554
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... OMIM:618699
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... ORPHA:365
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Ventilator dependence with inability to wean, Respiratory fa... OMIM:604320
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Bilateral cryptorchidism, Delayed ... ORPHA:99429
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Cough, Generalized abnormality of skin, Atelectasis ORPHA:2314
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, Respirator... ORPHA:98913
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Elevated hepatic transaminase, Respiratory distress, Death in infancy OMIM:615042
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Decreased circulating cortisol level, Elevated circulat... OMIM:618839
Cln3 Disease
T-wave inversion, Increased circulating androgen concentration, Bradycardia, Vacuolated lymphocytes ORPHA:228346
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Elev... OMIM:618835
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Cryptorchidism OMIM:615597
Ovarian Dysgenesis 9
Decreased serum estradiol, Hypoplasia of the ovary, Delayed puberty, Elevated circulating luteini... OMIM:619665
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Hyperaldosteronism, Abnormal calcium-phosphate regulating hormone level, Hypo... ORPHA:534
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Abse... OMIM:614837
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Ele... ORPHA:210136
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Degeneration of anterior horn cells, Respiratory distress, Cryptorchid... ORPHA:1145
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation OMIM:618233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Cyanosis, Increased circulating prolactin concentration, Hypoventilation,... ORPHA:293987
Cyanosis, Transient Neonatal
Cyanosis, Jaundice, Hepatomegaly OMIM:613977
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Respiratory insufficiency due ... OMIM:613561
Ovarian Dysgenesis 10
Decreased serum estradiol, Hypoplasia of the ovary, Delayed puberty, Elevated circulating follicl... OMIM:619834
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration OMIM:618838
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Bone marrow hypocellularity ORPHA:3226
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Pneumonia, Acrocyanosis, Cryptorchidism ORPHA:1867
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... ORPHA:652
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Respiratory distress, Respiratory failure... ORPHA:308552
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Asthma, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract in... OMIM:619632
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Recurrent respiratory infections, ... ORPHA:596
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Respiratory... ORPHA:367
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism, Respiratory distress OMIM:160900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Respiratory distress ORPHA:26792
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Exertional dyspnea, Abnormality of thyroid physiology, Asthma, D... ORPHA:563
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperkalemia, Hyperte... OMIM:614492
Truncus Arteriosus
Cyanosis, Hypoplasia of the thymus, Anomalous origin of one pulmonary artery from ascending aorta... ORPHA:3384
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplen... OMIM:618278
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Steinert Myotonic Dystrophy
Hypercholesterolemia, Hyperinsulinemia, Supraventricular tachycardia, Decreased response to growt... ORPHA:273
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Cryptorchidism, Death in infancy ORPHA:1194
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Recurrent upper respiratory tra... ORPHA:51636
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614496
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Nocardiosis
Pneumothorax, Productive cough, Liver abscess, Pleuritis, Thyroiditis, Respiratory distress, Emph... ORPHA:31204
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Ventilator dependence with inability to wean, Respiratory distress, Hep... ORPHA:254864
Tularemia
Pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pleural... ORPHA:3392
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... ORPHA:70
Neuroendocrine Neoplasm Of Appendix
Hypotension, Adrenocorticotropic hormone excess, Heart murmur, Increased serum serotonin, Elevate... ORPHA:100079
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arth... ORPHA:48377
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:615723
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Hypovo... ORPHA:64739
Choanal Atresia
Cyanosis, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abno... ORPHA:137914
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure, Tachypnea ORPHA:542323
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Asthma, Hydrocele testis, Recurrent sinusitis, Chronic ... OMIM:188400
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... OMIM:606367
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Dyspnea, Amyotrophic lateral sclero... ORPHA:803
Mogs-Cdg
Hypothyroidism, Hypoventilation, Pulmonary edema, Hydrocele testis, Respiratory distress, Hepatos... ORPHA:79330
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess OMIM:618108
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Esophageal Atresia
Bronchitis, Cyanosis, Aspiration, Maternal diabetes, Pulmonary hypoplasia, Respiratory distress, ... ORPHA:1199
Cystic Echinococcosis
Abnormal subpleural morphology, Abnormality of the testis size, Abnormal pulmonary thoracic imagi... ORPHA:400
Liddle Syndrome 1
Decreased circulating renin level, Hypertension, Hypokalemia, Decreased circulating aldosterone l... OMIM:177200
Snakebite Envenomation
Epistaxis, Respiratory failure, Hypopituitarism, Respiratory paralysis ORPHA:449285
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Decreased testicular size, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Delay... ORPHA:2326
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Hemochromatosis, Type 1