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Gene: Elk3 MGI:101762

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Gene Summary

Name:
ELK3, member of ETS oncogene family
Synonyms:
Net,  D430049E23Rik,  Sap-2,  Erp

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Elk3em1(IMPC)Ics HET Early adult 5.61×10-07
increased circulating alkaline phosphatase level Elk3em1(IMPC)Ics HET Early adult 7.18×10-07
abnormal retina blood vessel pattern Elk3Elk3 HOM Early adult 3.80×10-05
abnormal eye morphology Elk3Elk3 HOM Early adult 2.09×10-05
abnormal retina vasculature morphology Elk3Elk3 HOM Early adult 3.80×10-05
increased circulating HDL cholesterol level Elk3em1(IMPC)Ics HET Early adult 8.30×10-05
decreased prepulse inhibition Elk3Elk3 HOM Early adult 2.05×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Elk3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Elk3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... ORPHA:50251
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Ascites, Pleural effusio... ORPHA:2414
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Pleural effusion, Tachypnea, Lethargy, Pneum... ORPHA:36238
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio... OMIM:619773
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Myocardial infarction, C... ORPHA:132
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Acute Interstitial Pneumonia
Bronchiectasis, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thick... ORPHA:79126
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pericardi... ORPHA:199241
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypert... OMIM:612387
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Radio-Renal Syndrome
Chylothorax, Respiratory distress, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Pericardial effus... ORPHA:411703
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... OMIM:616843
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphysema, Pulmonary ... ORPHA:538
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cardiac arrest, Pulmonary edema... ORPHA:70587
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Respiratory distress, Cerebral hemorrhage, Respiratory failure OMIM:620278
Pneumocystosis
Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ... ORPHA:723
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic system, No... ORPHA:1041
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Congestive heart failure, Lymphedema, Cerebral ischemia, High-output cong... ORPHA:137667
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Palpitations, Syncope, Dyspnea, Sudden ... OMIM:610476
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, ... ORPHA:70589
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Inability to walk, Dyspnea, Respiratory failure, Respiratory failure requir... ORPHA:90117
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:545
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physiology, Lary... ORPHA:100057
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Orthopnea, Left bundle branch block, Tach... ORPHA:563
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Tularemia
Pneumonia, Respiratory distress, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpho... ORPHA:3392
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal respiratory distress, Reticular pattern on pulmonary HRCT, Usual i... OMIM:610921
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Congestive heart failure OMIM:616794
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:253300
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Chylothorax, Neonatal respiratory distress, Thymus hyperplasia OMIM:619036
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Cardiac arrest, Recurrent re... ORPHA:77260
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit... ORPHA:69735
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal... ORPHA:178320
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Focal Segmental Glomerulosclerosis 1
Ascites, Hypertension, Edema, Pleural effusion OMIM:603278
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Polyhydramnios, Respiratory insufficiency due to mu... OMIM:300580
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Tachy... ORPHA:542323
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Nocturnal hypoventilation, Lipoid pneumonia, Dyspnea, Respiratory fa... OMIM:620326
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Chylothorax, Abnormal optic nerve morphology, Edema, Lymphedema, Pleural effusion,... ORPHA:2526
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Pleural effusion, Splenomegaly, Lymphadenopathy, Ataxia, Dyspnea,... ORPHA:36412
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertroph... OMIM:261740
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Hennekam Syndrome
Chylothorax, Respiratory insufficiency, Lymphedema, Ascites, Splenomegaly, Lymphadenopathy, Hydro... ORPHA:2136
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Difficulty walking, Respira... ORPHA:254875
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion OMIM:602248
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Tricuspid ... OMIM:620233
Systemic Capillary Leak Syndrome
Hypotension, Cardiorespiratory arrest, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis... ORPHA:188
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf... ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Oligohydramnios, Pleural effusion, Pericardial effusion OMIM:614702
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Patent d... OMIM:153400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Difficulty walking, Inability to walk, Respiratory insufficiency due to muscle weakness, Recurren... ORPHA:2590
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Ascites, Pleural effusion, Bradycardia, Acute respiratory distress syn... OMIM:617397
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Respiratory failure, Respiratory insufficiency ORPHA:266
Avian Influenza
Pneumonia, Congestive heart failure, Respiratory distress, Pleural effusion, Tachypnea, Pneumotho... ORPHA:454836
Amyotrophic Lateral Sclerosis 28
Difficulty walking, Respiratory failure OMIM:620452
Glycogen Storage Disease Ii
Sinus tachycardia, Respiratory insufficiency, Difficulty walking, Pleural effusion, Splenomegaly,... OMIM:232300
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Dyspnea, Respiratory failure ORPHA:70578
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Apnea, Respiratory failure, Bradycardia OMIM:616277
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Hyp... OMIM:310200
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary arterial hypertension, ... OMIM:619751
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Apnea, Neonatal death, Ataxia, Respiratory failure OMIM:610127
Congenital Myopathy 14
Polyhydramnios, Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618414
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... OMIM:235200
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... ORPHA:90186
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:614399
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... OMIM:620236
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory insufficiency, Respiratory distress, Hypertrophic cardiomyopa... OMIM:614299
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Neonatal death, Respiratory insufficiency due to muscle we... OMIM:611890
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hepatosple... OMIM:619644
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Lymphedema, Hepatosplenomegaly, Splenomegaly, Mitral regurgit... OMIM:613563
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Sarcoidosis
Chylothorax, Abnormal lymph node morphology, Emphysema, Abnormal pleura morphology, Portal hypert... ORPHA:797
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Respiratory distress, Pulmonary arterial hy... ORPHA:70588
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Tachycardia, R... ORPHA:264675
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:115197
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Joint swelling, Splenomegaly, Lymphadenopathy, Pericarditis ORPHA:85414
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... ORPHA:33226
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Pleural effusion, Lymphangioma, Abnormal lymphatic vessel morpholo... ORPHA:464329
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Vasculitis ... OMIM:620296
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Pulmonary Arteriovenous Malformation
Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic attack, Ischemic st... ORPHA:2038
X-Linked Centronuclear Myopathy
Pneumonia, Respiratory distress, Inability to walk, Polyhydramnios, Recurrent respiratory infecti... ORPHA:596
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory insufficiency, Respiratory distress, Loss of ambulation, Respiratory insufficiency du... OMIM:620375
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Central hypoventilation, Apnea, Dysmetria, Ataxia, Respiratory failure OMIM:618233
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Nemaline Myopathy 8
Polyhydramnios, Respiratory failure OMIM:615348
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy, Cardiomyopathy ORPHA:26792
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, O... OMIM:613838
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Hypertrophic cardiomyopathy, Respiratory insufficiency due to mus... OMIM:613561
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block ORPHA:871
Aspergillosis
Pneumonia, Pleural effusion, Hypersensitivity pneumonitis, Dyspnea, Intracranial hemorrhage, Pulm... ORPHA:1163
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Respiratory distress, Pleural effusion, Polyhydramnio... ORPHA:292
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema, Peric... ORPHA:449280
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... ORPHA:567546
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Akinesia, Polyhydramnios, Respiratory failure, Edema OMIM:607598
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis,... OMIM:234810
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Pleural effusion, Recurrent respiratory infections, Edema OMIM:618606
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Hypersplenism, Hepatosplenomegaly, Pleural effusion,... ORPHA:846
Mercury Poisoning
Hypotension, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachycardia, Hypertension, ... ORPHA:330021
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Apneic episodes precipitated by illness, fatigue, stress, Respiratory ... OMIM:312170
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Respiratory failure OMIM:225753
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Angioedema, Cerebral ischemia, Tachycardia, Intracrani... ORPHA:449285
Hepatic Veno-Occlusive Disease
Ascites, Respiratory failure ORPHA:890
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Respiratory insufficiency due to muscle weakness, Dyspnea, Re... ORPHA:352447
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress, Splenomegaly, Lethargy, Choreoathetosis, Dehydration ORPHA:79312
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Pleural effusion, Constrictive pericarditis, Lung abscess, Dyspnea, Ple... ORPHA:67
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Inability to walk, Ataxia, Respiratory fai... ORPHA:70472
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia, Respiratory failure requiring assisted... ORPHA:140896
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Hypertrophic cardiomyopathy, Respiratory tract i... ORPHA:308552
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Akinesia, Respiratory failure, Neonatal death OMIM:619334
Immunodeficiency 54
Respiratory insufficiency, Splenomegaly, Lymphadenopathy, Recurrent respiratory infections, Respi... OMIM:609981
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature,... ORPHA:284227
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis, Recurrent... OMIM:608647
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Raynaud phenomenon, Lymphadenopathy, Dyspnea, Pericardial effusion, Edema ORPHA:93552
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Polyhydramnios, Pulmonic ste... OMIM:615355
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Lethargy, Respiratory failure OMIM:619386
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Respiratory failure OMIM:613435
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia, Falls ORPHA:240085
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Respiratory failure, Respiratory insufficiency ORPHA:370968
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Telangiectasia of the ... ORPHA:679
Q Fever
Pneumonia, Vasculitis, Respiratory distress, Hepatosplenomegaly, Pleural effusion, Splenomegaly, ... ORPHA:781
Fryns Syndrome
Chylothorax, Polysplenia, Stillbirth, Polyhydramnios, Pulmonary hypoplasia OMIM:229850
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Leigh Syndrome, Nuclear
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, Ataxia OMIM:256000
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Exertiona... OMIM:178500
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk OMIM:617977
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Neonatal respiratory distress, Elevated bronchoalveolar lavage fluid neutrophil... OMIM:610978
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Polyhydramnios, Hydrops fetalis, Pulmonar... OMIM:616897
Myopathy And Diabetes Mellitus
Respiratory distress, Tip-toe gait, Inability to walk, Progressive cerebellar ataxia ORPHA:2596
Intermediate Nemaline Myopathy
Difficulty walking, Polyhydramnios, Respiratory failure ORPHA:171433
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ... ORPHA:444013
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Malaria
Respiratory distress, Gait imbalance ORPHA:673
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Pleural effusion, ... OMIM:618935
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Respiratory insufficiency, Congestive heart failure, Lethargy, Arrhythmia... OMIM:609015
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Polyhydramnios, Dyspnea, Recurrent respiratory infections, Respiratory failure ORPHA:2759
Perching Syndrome
Respiratory distress OMIM:617055
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Nephronophthisis 2
Respiratory insufficiency, Oligohydramnios, Pulmonary insufficiency, Hypertension, Respiratory fa... OMIM:602088
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Respiratory insufficiency... ORPHA:367
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Respiratory distress, Shock, Palpi... ORPHA:340
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Lethargy, Gait disturbance, Respiratory failure OMIM:250940
Succinic Acidemia
Respiratory distress OMIM:600335
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Respiratory distress, Difficulty walking, Dyspnea, Waddling gait ORPHA:86812
Gorham-Stout Disease
Lymphangioma, Pleural effusion, Edema ORPHA:73
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Hypertension, Pulmonary hypoplasia OMIM:616733
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Dyspnea, Hypertension, Systo... ORPHA:3193
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrh... ORPHA:3226
Pulmonary Alveolar Microlithiasis
Bronchiectasis, Right ventricular failure, Bronchitis, Respiratory insufficiency, Subpleural inte... ORPHA:60025
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Loss of ambulation, Lethargy, Tachypnea, Gait disturbance, Ataxia, Respiratory failure OMIM:615838
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitr... OMIM:212140
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Recurrent respiratory infections, Hypertrophic cardiomyopathy... ORPHA:75249
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Congestive heart failure, Oligohydramnios, Splen... OMIM:615512
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Spinocerebellar Ataxia Type 1
Gait imbalance, Dysmetria, Gait disturbance, Bradykinesia, Respiratory failure, Dysdiadochokinesi... ORPHA:98755
Hyperekplexia 4
Respiratory failure OMIM:618011
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Loss of ambulation, Ataxia OMIM:620166
Nipah Virus Disease
Respiratory distress, Hypotension, Recurrent pharyngitis ORPHA:99825
Ring Chromosome 22 Syndrome
Gait ataxia, Edema, Pleural effusion, Lymphedema ORPHA:1446
Poems Syndrome
Ascites, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Lymphadenopathy, Respir... ORPHA:2905
Primary Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves... ORPHA:90362
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hypertension, Respiratory failure, Ataxia ORPHA:363400
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia ORPHA:464453
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Laron Syndrome
Hypercholesterolemia ORPHA:633
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Difficulty walking, Inability to walk, Hypoventilation, Recurrent ... ORPHA:70
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Respiratory dis... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Neonatal death, Lethargy, Stillbirth, Polyhydramnios, Respiratory failure OMIM:614922
Boutonneuse Fever
Cervical lymphadenopathy, Vasculitis, Respiratory failure, Lymphadenopathy ORPHA:83313
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Oligohydramnios, Arrhythmia, Respiratory f... ORPHA:1194
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... ORPHA:1329
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Nocardiosis
Pneumonia, Lymphadenitis, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspne... ORPHA:31204
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Respiratory failure, Respiratory insufficiency OMIM:615330
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Central apnea, Respiratory insufficiency due to muscle weakness, Polyhydramn... OMIM:618291
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Difficulty walking, Nocturnal hypoventilation, Respiratory failure OMIM:603689
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Neonatal death, Lethargy, Pulmonary arterial hypertension, Respiratory... OMIM:605711
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphadenopathy ORPHA:457077
Folinic Acid-Responsive Seizures
Broad-based gait, Respiratory distress, Difficulty walking, Apnea, Ataxia ORPHA:79097
Lymphoproliferative Syndrome 1
Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy OMIM:613011
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Lymphocytic interstitial pn... ORPHA:133
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Erdheim-Chester Disease
Congestive heart failure, Pleural effusion, Joint swelling, Ataxia, Dyspnea, Abnormal pulmonary i... ORPHA:35687
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Tachypnea, Hyperventilation, Mediastinal lymphaden... ORPHA:91359
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:245400
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Respiratory insufficiency due to muscle weakness ORPHA:1143
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Ataxi... OMIM:211530
Ovarian Fibrothecoma
Ascites, Pleural effusion ORPHA:314478
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypn... ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Respiratory insu... ORPHA:746
Riddle Syndrome
Neonatal asphyxia, Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Telangiectasi... ORPHA:420741
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hypertrophic cardiomyopathy, Exertional dyspnea, Ataxia, Truncal ataxia, Re... OMIM:220110
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Thyroid lym... OMIM:235510
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Bronchiectasis, Polysplenia, Atelectasis, Pulmonary situs ambiguus... ORPHA:244
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Respiratory distress, Ascites, Pleural effusion, Nonimmune hydrops fetalis,... OMIM:620369
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Dysmetria, Steppage gait, Ataxia, Respiratory failure OMIM:616505
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Orthopnea, Respiratory failure ORPHA:98913
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Tachypnea, Pericardial effusion, Systolic heart murmur, Respiratory fail... ORPHA:555874
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Arrhythmia, Lethargy, ... ORPHA:254913
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Pericardial effusion, Pleural effusion, Sp... OMIM:181000
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Splenomegaly, Telangiectasia, Ataxia OMIM:608799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Respiratory failure, Tip-toe gait OMIM:606612
Alg1-Cdg
Respiratory failure, Cardiomyopathy ORPHA:79327
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Ataxia ORPHA:2254
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Myotonic Dystrophy 1
Atrial flutter, Respiratory distress, Polyhydramnios, First degree atrioventricular block, Atrial... OMIM:160900
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory insufficiency, Respiratory distress, Hypertrophic cardiomyop... ORPHA:365
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Fetal ascites, Respiratory insufficiency, Splenomegaly, Ataxia, Po... OMIM:607625
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Difficulty walking, Respiratory failure OMIM:613954
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Chylothorax, Pulmonic stenosis, Lymphedema OMIM:163950
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Respiratory insufficiency, Inability to walk, Reduced left ventricular ejection f... ORPHA:258
Cryptococcosis
Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea, Ce... ORPHA:1546
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Cardiomyopathy, Congestive heart failure, Inability to walk, Arrhythmia... ORPHA:26791
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Gait ataxia OMIM:612075
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary arterial hypertension, ... OMIM:616482
Hereditary Angioedema Type 1
Facial edema, Hypotension, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dors... ORPHA:100050
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... ORPHA:99106
Laryngomalacia
Respiratory distress OMIM:150280
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Respiratory insufficienc... OMIM:614370
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Lymphadenopathy, Neoplasm of the lung ORPHA:142
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Cerebral ischemia, Ataxia ORPHA:927
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricular fibrillation, ST segment elevation... ORPHA:66529
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Recurrent pneumonia, Falls, Pulmonary fibrosis, Respiratory distre... ORPHA:209905
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Pedal edema, Systolic heart murmur, Right ventricula... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Dyspnea... OMIM:115195
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Inhalational Anthrax
Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage ORPHA:247257
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Pneumonia ORPHA:238459
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure OMIM:604320
Kikuchi-Fujimoto Disease
Ataxia, Vasculitis, Abnormal pulmonary interstitial morphology, Abnormal lymph node morphology, C... ORPHA:50918
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, Apnea, Oligohyd... OMIM:608836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy, Choreoathetosis ORPHA:289916
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Lethargy, Irregular respiration, Cardiac arrest OMIM:604377
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... ORPHA:244242
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... OMIM:618183
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiorespiratory arrest, Congestive heart failure, Respiratory distress,... ORPHA:3342
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... ORPHA:2299
Chédiak-Higashi Syndrome
Epistaxis, Inability to walk, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Gait disturbanc... ORPHA:167
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Anasarca, Gait ataxia, Pleural effusion, Unsteady gait, Edema OMIM:254900
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Respiratory distress, Abnormality of the spleen, Exudative pleu... ORPHA:228123
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Pulmonary artery dilatation, Right-to-left shunt, Abnormal lung lo... OMIM:265380
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Fusariosis
Pneumonia, Pleural effusion, Lung abscess, Abnormal retinal morphology, Hypersensitivity pneumoni... ORPHA:228119
Thyroid Lymphoma
Respiratory distress, Dyspnea, Lymphadenopathy ORPHA:97285
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Choreoathetosis, Cardiomyopathy ORPHA:445038
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Anasarca, Lymphedema, Pleural effusion, Constrict... ORPHA:90363
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Congestive heart failure, Tricuspid regurgitation, Palpitations, Inc... ORPHA:275766
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ... ORPHA:98915
Poliomyelitis
Hypovolemic shock, Hypotension, Inability to walk, Absent tonsils, Hypertension, Respiratory fail... ORPHA:2912
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Ataxia, Respiratory failure ORPHA:280210
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection... OMIM:617180
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Tachypnea, Ataxia ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, First degr... ORPHA:509
Colchicine Poisoning
Hypotension, Cardiogenic shock, Cardiorespiratory arrest, Congestive heart failure, Respiratory d... ORPHA:31824
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Lethargy, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Atelectasis, Pleural eff... ORPHA:73263
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Bradypnea, Respiratory failure, Ataxia OMIM:617186
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Edema, Abnormal left v... ORPHA:97292
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Mitral regurgitation, Dyspnea, Respiratory failure OMIM:617809
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Congenital Myopathy 10B, Mild Variant
Difficulty walking, Recurrent pneumonia, Respiratory failure OMIM:620249
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Respiratory distress, Lethargy, Cerebellar hemorrhage, Dehydration OMIM:251000
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Tetanus
Respiratory distress, Tachypnea, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Oligohydramnios, Impaired myocardial contractility, Respirator... ORPHA:158687
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypertrophic cardiomyopathy, Inability to walk, Gait ataxia, Recurrent resp... OMIM:619383
Eisenmenger Syndrome
Elevated jugular venous pressure, Pedal edema, Right ventricular failure, Tricuspid regurgitation... ORPHA:97214
Episodic Ataxia Type 1
Respiratory distress, Tip-toe gait, Choreoathetosis ORPHA:37612
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ascites, Hepatosplenomegaly, Apnea, Akinesia, Splenomegaly, Nonimmune hydro... OMIM:608013
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Pneumothorax ORPHA:1302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Ischemic s... ORPHA:90068
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Atelectasis, Ascites, Pleural effusion, Splenomegaly, Lymphad... OMIM:306400
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Generalized edema, Edema, Pleuritis, Respiratory tract infection,... ORPHA:544482
Scimitar Syndrome
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Bronchogenic cyst, Congestive heart failure, R... ORPHA:185
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Polyhydramnios, Recurrent respiratory infections, Respiratory failure, Edema ORPHA:98905
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Cervical lymphadenopathy, ... OMIM:619573
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Polyhydramnios, Atelectasis, Neonatal death OMIM:300219
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Cardiorespiratory arrest, Pulmonary embolism, Pulmonary ar... ORPHA:228116
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Congenital Myasthenic Syndrome
Tip-toe gait, Difficulty walking, Intermittent episodes of respiratory insufficiency due to muscl... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Difficulty walking, Intermittent episodes of respiratory insufficiency due to muscl... ORPHA:98914
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory insufficiency, A... OMIM:252010
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Episodic respirato... ORPHA:31826
Familial Mediterranean Fever
Pleuritis, Pleural effusion, Splenomegaly, Pericarditis OMIM:249100
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Respiratory... ORPHA:333
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Respiratory distress, Inability to walk, Hypertrop... OMIM:617303
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Congestive heart failure, Respiratory distress, Ataxia, Polyhydramnios, Chor... OMIM:616271
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Hepatosplenomegaly, ... ORPHA:171
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Brucellosis
Pneumonia, Arteritis, Pulmonary granulomatosis, Bronchitis, Hypersplenism, Transient ischemic att... ORPHA:1304
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Abnormal heart rate variability ORPHA:206436
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of hands, Edema of the dorsum of feet ORPHA:544503
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Ataxia... OMIM:610505
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Heart murmur, Re... ORPHA:3309
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Tachypnea OMIM:237310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Joubert Syndrome 21
Apnea, Splenomegaly, Ataxia, Dyspnea, Respiratory failure, Pulmonary hypoplasia OMIM:615636
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Respiratory failure, Cardiomyopathy ORPHA:88618
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Primary Dystonia, Dyt4 Type
Respiratory distress, Gait disturbance, Dysdiadochokinesis ORPHA:98805
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Neonatal respiratory distress, Intercostal retra... ORPHA:95430
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Amyotrophic Lateral Sclerosis
Dyspnea, Xerostomia, Respiratory failure ORPHA:803
Mogs-Cdg
Generalized edema, Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Pulmonary ed... ORPHA:79330
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Respiratory distress, Splenic abscess, Ataxia, My... ORPHA:533
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Neonatal death, Respiratory arrest, Bradycardia, Respiratory failure OMIM:617248
Moebius Syndrome
Respiratory distress, Gait disturbance, Dysdiadochokinesis OMIM:157900
Leigh Syndrome
Abnormal pattern of respiration, Congestive heart failure, Hypertrophic cardiomyopathy, Respirato... ORPHA:506
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Respiratory distress, Lethargy... OMIM:607143
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Decreased ... ORPHA:470
Neuroblastoma
Respiratory distress, Antalgic gait, Lymphadenopathy, Ataxia, Hypertension ORPHA:635
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy, Dilated cardiomyopathy, Dehydration OMIM:251110
Diaphanospondylodysostosis