Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
troponin I, cardiac 3
Synonyms:
Tn1,  cardiac troponin I,  cTnI

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tnni3 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 Tnni3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Orthopnea, Syncope, Atrial fibrillation, Abnormal left vent... ORPHA:75249
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Cardiomyopathy OMIM:613690
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154

The table below shows human diseases predicted to be associated to Tnni3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Right ventricular failure, Respiratory distress, Abnormal resp... ORPHA:70589
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Exertional dyspnea, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac de... OMIM:608751
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... ORPHA:178464
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 26
Dyspnea, Atrial fibrillation, Left atrial enlargement, Congestive heart failure, Mitral regurgita... OMIM:617047
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Muscular dystrophy, Centrally nucleated skelet... ORPHA:86812
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Dyspnea, Congestive heart failure, Heart block, Syncope ORPHA:871
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Lujo Hemorrhagic Fever
Coma, Lethargy, Dyspnea, Gastrointestinal hemorrhage, Cardiac arrest, Recurrent pharyngitis ORPHA:319213
Myopathy And Diabetes Mellitus
Inability to walk, Delirium, Weakness of orbicularis oculi muscle, Respiratory distress, Proximal... ORPHA:2596
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Gaucher Disease Type 2
Dystonia, Respiratory distress, Cough, Flexion contracture, Cardiac arrest, Abnormal pattern of r... ORPHA:77260
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress, Myopathy, Cardiomyopathy ORPHA:26792
Desminopathy
Supraventricular arrhythmia, Difficulty walking, Loss of ability to walk, Concentric hypertrophic... ORPHA:98909
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Ataxia, Hypertrophic cardiomyopathy OMIM:618683
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Gait disturbance, Flexion contracture, Respiratory insufficiency, Congestive heart fa... ORPHA:157973
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Lethargy, Cardiomyopathy ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure, Respiratory failure OMIM:616794
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618228
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory i... OMIM:310200
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Perching Syndrome
Camptodactyly, Flexion contracture, Respiratory distress, Depressed nasal bridge OMIM:617055
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Shock, Respiratory distress, Pleural empyema, Confusion, Pulmonary pneumatocele... ORPHA:36238
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy, Skeletal muscle atrophy OMIM:613710
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Flexion contracture, Facial palsy, Myopathy, Cardiomyopathy OMIM:201470
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology, Internally nucleated skeletal muscle fibers, Ce... ORPHA:324581
Carnitine Deficiency, Systemic Primary
Coma, Lethargy, Reduced muscle carnitine level, Endocardial fibroelastosis, Excessive daytime som... OMIM:212140
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen... ORPHA:324604
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Hypertension, Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypert... OMIM:605711
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Facial myokymia, Limb hypertonia, Congestive heart failure, Dilated... ORPHA:324588
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... OMIM:254210
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Congenital Left Ventricular Aneurysm
Apnea, Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ... ORPHA:1055
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Congestive heart fa... OMIM:613426
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress, Ataxia OMIM:619099
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Facial myokymia, Limb hypertonia, Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Dyspnea, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Cardiogenic Shock
Coma, Low pulse pressure, Right ventricular failure, Dyspnea, Hypotension, Abnormal left ventricu... ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618224
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:603511
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Cardiomyopathy, Weakness of the intrinsic hand ... ORPHA:399103
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Gait disturbance, Ataxia, Hypertension, Congestive heart failure, Dilated cardiomyopathy... ORPHA:1349
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Palpitations, Scapular winging, Abnormal pulmonary interstitial mor... ORPHA:206569
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Dyspnea, Respiratory insufficiency, Nemaline bodies, Limb muscle wea... OMIM:606842
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Hemochromatosis, Type 2A
Lethargy, Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Respiratory distress, Paroxysmal supraventricular tachycar... ORPHA:45452
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased muscle lipid con... ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Muscular dystrophy,... ORPHA:300751
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia OMIM:619048
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress, Skeletal muscle atrophy, Increased variability i... ORPHA:238329
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Syncope, Drowsiness, Tachycardia, Loss of consciousnes... ORPHA:276556
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Respiratory insufficiency, Ataxia, Respiratory failure, Dilated cardiomyopathy, Hypertr... OMIM:614299
Sandhoff Disease
Congestive heart failure, Recurrent respiratory infections, Ataxia ORPHA:796
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-gl... OMIM:610978
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Lethargy, Ventricular septal defect, Congest... ORPHA:49827
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Acquired Methemoglobinemia
Coma, Palpitations, Arrhythmia, Dyspnea, Respiratory distress, Confusion, Drowsiness, Tachycardia... ORPHA:464453
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy, Respiratory distress OMIM:237310
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Ataxia, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:225
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Syncope, Drowsiness, Tachycardia, Loss of consciousnes... ORPHA:276575
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hypertrophic cardiomyopathy OMIM:246900
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Dyspnea, Ventricular tachycardia, Left ventricular hypertrophy... OMIM:613873
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Hepatojugular reflux, Late inspiratory ... ORPHA:2302
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Gait disturbance, Skeletal myopathy, Congestive heart fai... OMIM:302060
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Arrhythmia, Sudden cardiac death, Skeletal muscle atrophy, Loss of consciousness,... ORPHA:156
Developmental And Epileptic Encephalopathy 41
Inability to walk, Flexion contracture, Lethargy OMIM:617105
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Syncope, Drowsiness, Tachycardia, Loss of consciousnes... ORPHA:276580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Respiratory distress, Bradykinesia, Falls, Axial muscle stiffness ORPHA:240085
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Congestive heart failure, Cardiomegaly, Atrial flutter OMIM:300886
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Difficulty walking, Ventilator dependence with ina... ORPHA:254875
Familial Atrial Myxoma
Exertional dyspnea, Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive he... ORPHA:615
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Generalized amyotrophy, Lethargy OMIM:610006
Febrile Infection-Related Epilepsy Syndrome
Cough, Lethargy, Sinusitis ORPHA:163703
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy, Arrhythmia, Rhabdomyolysis, Lower limb muscle weakness, Toe walking, Tricuspid re... ORPHA:746
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Lethargy, Rhabdomyolysis, Gait imbalance OMIM:618120
Babesiosis
Coma, Cough, Respiratory insufficiency, Confusion, Myocardial infarction, Congestive heart failur... ORPHA:108
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia, Wide nasal bridge, Apneic episodes precipitated by illness, ... OMIM:312170
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Multiple Carboxylase Deficiency
Coma, Lethargy, Respiratory distress, Ataxia, Tachypnea, Limb muscle weakness ORPHA:148
Congenital Laryngeal Web
Abnormal cardiac septum morphology, Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Cirrhosis, Familial
Pulmonary arterial hypertension, Lethargy, Hypertension OMIM:215600
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Ventricular hypertrophy, Lethargy, Cardiorespiratory arrest, Hypotension, Ventricular extra... OMIM:212138
Typhoid
Coma, Lethargy, Arrhythmia, Gastrointestinal hemorrhage, Cough, Epistaxis, Ataxia, Abnormal pulmo... ORPHA:99745
Ebola Hemorrhagic Fever
Coma, Restrictive ventilatory defect, Lethargy, Gastrointestinal hemorrhage, Cough, Epistaxis, Ca... ORPHA:319218
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Flexion contracture, Anteverted nares, Respiratory distress OMIM:618006
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Arrhythmia, Exertional dyspnea, Ataxia, Distal arthrogryposis, Cardiomegaly, Skel... ORPHA:42
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Central apnea, Ataxia, Confusion ORPHA:71277
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... OMIM:616733
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy, Ataxia OMIM:618225
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Dyspnea, Left posterior fascicular block, Sudden c... OMIM:113900
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Weakness of muscles of respiration, Generalized amyotrophy, Waddlin... ORPHA:52430
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Respiratory distress, Cardiomyopathy ORPHA:79312
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Bulbous nose, Steppage gait, Atrial flutter, Mitral regurgitation, Abnormal at... ORPHA:324410
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Nipah Virus Disease
Coma, Respiratory distress, Hypotension, Cough, Recurrent pharyngitis ORPHA:99825
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Ventricular tachycardia, Cardiomegaly, Dilated cardiomyopathy, Respiratory arrest OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ... OMIM:608758
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Exertional dyspnea, Bronchiolitis, Pulmonary fibrosis, Loss of abil... ORPHA:254361
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia, Aplasia/H... ORPHA:2140
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Respiratory distress, Ataxia, Confusion, Drowsiness, Cerebral ischemia,... ORPHA:927
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interst... ORPHA:178320
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Scimitar Syndrome
Single ventricle, Cough, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonar... ORPHA:185
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Re... ORPHA:1145
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Abnormal heart morphology, Flexion contracture, Lower limb muscle weakness,... ORPHA:1143
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Re... ORPHA:70587
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Tachypnea, Loss of consciousness ORPHA:247525
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Ataxia, Cardiomyopathy OMIM:500007
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Ventricular hypertrophy, Decreased muscle mass, Arrhy... ORPHA:263297
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Arrhythmia, Rhabdomyolysis, Respiratory insufficiency, Congestive heart failure, Respir... OMIM:609015
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Lower limb... ORPHA:90117
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Lethargy, Arrhythmia, Ventricular septal defect, Re... ORPHA:26793
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon ... ORPHA:85446
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618226
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Upper airway obstruction, Abnorma... ORPHA:142
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Glycerol Kinase Deficiency
Coma, Lethargy, Muscular dystrophy, Myopathy, Loss of consciousness OMIM:307030
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Facial hypotonia, Respiratory distress, Respiratory fa... ORPHA:308552
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary insufficie... ORPHA:70588
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Idiopathic Congenital Hypothyroidism
Macroglossia, Lethargy, Bradycardia, Depressed nasal bridge ORPHA:95717
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Dyspnea, Pericardial effusion, Syncope, Left bundle branch block, Atriov... OMIM:115197
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Heart murmur, Ventricular hypertrophy, Congestive heart failure ORPHA:3400
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Drowsiness, Tachycardia, Loss of consciousness, Syncope ORPHA:324575
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Cednik Syndrome
Congestive heart failure, Prominent nasal bridge, Ataxia ORPHA:66631
Scrub Typhus
Restrictive ventilatory defect, Lethargy, Dyspnea, Hypotension, Cough, Reduced consciousness/conf... ORPHA:83317
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Fructose-1,6-Bisphosphatase Deficiency
Coma, Apnea, Lethargy, Dyspnea, Tachycardia, Hyperventilation OMIM:229700
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Evans Syndrome
Lethargy, Dyspnea, Epistaxis, Syncope ORPHA:1959
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Tachycardia, Lethargy ORPHA:276608
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Abnormal pulm... ORPHA:330001
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Cardiomyopathy, Familial Hypertrophic, 13
Dyspnea, Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hyp... OMIM:613243
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonary aterial inti... OMIM:178600
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Bronchiolitis OMIM:615993
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Respiratory failure, Hypertrophic cardiomyopathy OMIM:619386
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Lethargy, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardi... OMIM:201475
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Respiratory insufficiency, Cardiomyopathy ORPHA:27
Refsum Disease, Classic
Arrhythmia, Ataxia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Respiratory distress, Flexion contracture, Respiratory insuffic... ORPHA:367
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Mercury Poisoning
Dystonia, Dyspnea, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypertension, Con... ORPHA:330021
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pleura morphology, Gait disturbance, Cough, Nasal polyposis, Abnormal peri... ORPHA:183
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Flexion contracture, Abnormal aortic valve morphology, Abnor... ORPHA:1194
Klippel-Trénaunay Syndrome
Atrial septal defect, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Internal ... ORPHA:90308
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Respiratory insufficiency ORPHA:28
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Arrhythmia, Sudden episodic apnea, Hypotension, Rhabdomyolysis, Respiratory insuf... ORPHA:159
Acquired Aneurysmal Subarachnoid Hemorrhage
Coma, Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemor... ORPHA:90065
Malaria
Reduced consciousness/confusion, Gait imbalance, Respiratory distress ORPHA:673
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Laryngeal stridor, Progressive cerebellar ataxia, Distal amyotrophy, Dysmetria OMIM:606183
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Flexion contracture, Congestive heart failure, Depressed nasal bridge ORPHA:261519
Hemochromatosis Type 2
Dilated cardiomyopathy, Lethargy ORPHA:79230
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Hyperkalemic Periodic Paralysis
Arrhythmia, Skeletal muscle hypertrophy, Gait disturbance, Flexion contracture, Respiratory insuf... ORPHA:682
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Congestive hea... OMIM:619259
Mulibrey Nanism
Myocardial fibrosis, Hypoplastic frontal sinuses, Wide nasal bridge, Congestive heart failure, Ca... OMIM:253250
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Sleep apnea, Respiratory distress, Exertional dyspnea, Hy... ORPHA:98915
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy, Cardiomegaly OMIM:619064
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Restrictive ventilatory defect, Scapular winging, Increased intramyocellular l... ORPHA:26791
Atransferrinemia
Congestive heart failure OMIM:209300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria i... OMIM:252011
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Exertional dyspnea, Angina pectoris, Right ventricular hypertrophy, Pu... OMIM:265400
Ethylene Glycol Poisoning
Coma, Episodic respiratory distress, Hypotension, Abnormal pattern of respiration, Atrial fibrill... ORPHA:31826
Histiocytoid Cardiomyopathy
Lethargy, Tachypnea, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, C... ORPHA:137675
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Lethargy, Ataxia, Cardiomyopathy ORPHA:2394
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Excessive daytime somnolence, Atrial fibrillation, First de... OMIM:160900
Ogden Syndrome
Cardiogenic shock, Lethargy, Arrhythmia, Underdeveloped nasal alae, Ventricular septal defect, Ex... ORPHA:276432
Propionic Acidemia
Coma, Dystonia, Lethargy, Apnea, Cerebellar hemorrhage, Limb hypertonia, Tachypnea, Cardiomyopathy OMIM:606054
American Trypanosomiasis
Arrhythmia, Dyspnea, Cough, Congestive heart failure, Myocarditis, Cardiomyopathy ORPHA:3386
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Orthopnea, Syncope, Atrial fibrillation, Abnormal left vent... ORPHA:75249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Respiratory distress ORPHA:289916
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Apnea, Lethargy, Arrhythmia, Respiratory distress, Bulbous no... OMIM:608836
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitatio... ORPHA:422
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Abnormal sputum, Constrictive pericarditis, Dyspnea, Pleural effusion, Cough, Abnor... ORPHA:67
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Dyspnea, Gait disturbance, Ataxia, Wide nasal bridge, Tachypnea ORPHA:765
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary fibrosis, Flexion contracture, Hypertensive crisis, Telangiectasia of the skin... ORPHA:220393
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy, Cardiomegaly, Arrhythmia OMIM:255120
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Congestive heart failure, Shuffling gait, Hyperactivity ORPHA:3077
Aneurysm Of Sinus Of Valsalva
Dyspnea, Aortic regurgitation, Cough, Heart murmur, Congestive heart failure, Bacterial endocarditis ORPHA:1054
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Respiratory distress, Gait disturbance, Blepharospasm, Laryngeal dystonia, To... ORPHA:98805
Cocaine Intoxication
Ventricular arrhythmia, Coma, Wheezing, Cough, Reduced consciousness/confusion, Cerebral hemorrha... ORPHA:90068
Succinic Acidemia
Respiratory distress OMIM:600335
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Respiratory distress, Ataxia, Tachypnea ORPHA:79242
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Exertional dyspnea ORPHA:90037
Marburg Hemorrhagic Fever
Lethargy, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Cough, Recurrent pharyngitis ORPHA:99826
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Atrial septal defect, Lethargy OMIM:614857
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Inhalational Anthrax
Dyspnea, Respiratory distress, Internal hemorrhage, Hypotension, Confusion ORPHA:247257
Leigh Syndrome With Cardiomyopathy
Apnea, Dystonia, Cardiac conduction abnormality, Respiratory distress, Central hypoventilation, A... ORPHA:70474
Oromandibular Dystonia
Respiratory distress, Blepharospasm, Lingual dystonia, Laryngeal dystonia, Torticollis, Generaliz... ORPHA:93958
Hemochromatosis, Type 1
Arrhythmia, Pleural effusion, Congestive heart failure, Cardiomegaly, Telangiectasia, Cardiomyopathy OMIM:235200
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Muscular dystrophy, Camptodactyly, Ataxia, Knee flexion contracture, Telang... OMIM:608799
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy OMIM:274400
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Left ventric... OMIM:616501
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Dyspnea, Coronary arter... ORPHA:565612
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Graves Disease, Susceptibility To, 1
Congestive heart failure, Hyperactivity OMIM:275000
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Left ... OMIM:301500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ataxia, Tricuspid regurg... OMIM:619167
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Right ventricular failure, Dyspnea, Elevated pulmonary artery pressur... ORPHA:199241
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Exertional dyspnea, Respira... ORPHA:254892
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Myocardial fibrosis, Dyspnea, Pulmonary fi... ORPHA:210136
Infantile Sialic Acid Storage Disease
Congestive heart failure, Anteverted nares, Cardiomegaly OMIM:269920
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Ataxia, Respiratory insufficiency, Hand muscle atrophy, Facial pal... OMIM:211530
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Lethargy, Cardiorespiratory arrest, Hypotension, Blepharospasm, Oculogyric crisis, Tortico... OMIM:608643
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Encephalitis Lethargica
Coma, Lethargy, Upper limb muscle weakness, Bradycardia, Pharyngitis, Hyperventilation ORPHA:83600
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Facial hypotonia, Decreased muscle mass, Congestive heart failure ORPHA:500533
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Hypocapnia, Central sleep apnea, Right ventricular failure, Exertional dyspnea, Car... ORPHA:70591
Necrotizing Enterocolitis
Apnea, Lethargy, Abnormal heart morphology, Hypotension, Shock, Bradycardia ORPHA:391673
Autoimmune Hemolytic Anemia
Arrhythmia, Dyspnea, Congestive heart failure ORPHA:98375
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower limb muscl... ORPHA:365
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Congenital contracture, Short nose, Respiratory distress OMIM:615042
Meningococcal Meningitis
Lethargy, Hypotension, Reduced consciousness/confusion, Drowsiness, Neonatal respiratory distress... ORPHA:33475
Friedreich Ataxia
Gait ataxia, Abnormal echocardiogram, Limb ataxia, Ataxia, Congestive heart failure, Abnormal EKG... OMIM:229300
Dengue Fever
Lethargy, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Cerebral... ORPHA:99828
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Lethargy, Dystonia OMIM:233910
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Stridor, Sudden episodic apnea,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Stridor, Sudden episodic apnea,... ORPHA:98914
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Respiratory failure, Ataxia OMIM:615838
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Tricuspid regurgitation, Pulmonary arterial... ORPHA:97214
Tetanus
Coma, Respiratory distress, Laryngospasm, Hypertension, Tachycardia, Tachypnea, Bradycardia ORPHA:3299
Fructose-1,6-Bisphosphatase Deficiency
Coma, Dyspnea, Respiratory distress, Excessive daytime somnolence, Episodic tachypnea, Reduced co... ORPHA:348
Infantile Liver Failure Syndrome 2
Lethargy, Cardiomyopathy OMIM:616483
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Aortic valve stenosis, Lethargy OMIM:143880
Aarskog-Scott Syndrome
Camptodactyly of finger, Wide nasal bridge, Congestive heart failure, Anteverted nares, Attention... ORPHA:915
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Respiratory distress, Cardiorespiratory arrest, Hypovolemia, Hypot... ORPHA:31824
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Heart murmur, Congestive heart failure, Pulm... ORPHA:3309
Partial Atrioventricular Septal Defect
Exertional dyspnea, Atrial flutter, Coronary sinus enlargement, Double outlet right ventricle, Tr... ORPHA:1330
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Dyspnea, Respiratory insufficiency due to muscle weakness, Ge... ORPHA:352447
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure,... ORPHA:79083
Spinocerebellar Ataxia, X-Linked 3
Lethargy, Episodic respiratory distress, Dysmetria, Episodic hypoventilation, Recurrent respirato... OMIM:301790
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Isovaleric Acidemia
Coma, Lethargy, Cerebellar hemorrhage OMIM:243500
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Macroglossia, Atrial septal defect, Respiratory distress, Flexion contracture,... OMIM:617303
Malignant Hyperthermia Of Anesthesia
Abnormality of masseter muscle, Hypercapnia, Ventricular extrasystoles, Exercise-induced rhabdomy... ORPHA:423
Triosephosphate Isomerase Deficiency
Dystonia, Respiratory insufficiency due to muscle weakness, Unsteady gait, Congestive heart failu... OMIM:615512
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Decreased muscle mass, Arrhythmia, Elevated jugular venous pressure, Congestive heart f... ORPHA:465508
Familial Thyroid Dyshormonogenesis
Macroglossia, Lethargy, Bradycardia, Depressed nasal bridge ORPHA:95716
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Hypertension OMIM:208000
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Lower limb hypertonia, Hypertension, Drowsiness, Loss of ... ORPHA:2169
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia, Respiratory insufficiency OMIM:617397
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Respiratory distress, Exertional dyspnea, Ataxia, Resp... OMIM:220110
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber size,... ORPHA:2348
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Dystonia, Ventricular septal defect, Abnormal heart morpho... ORPHA:354
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Central apnea, Congestive heart failure, Pulmonary arterial hypertension, Depressed ... OMIM:616482
Lassa Fever
Lethargy, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Pleural effusion, Cough, Recurre... ORPHA:99824
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Insulinoma
Coma, Palpitations, Lethargy, Reduced consciousness/confusion, Fluctuations in consciousness ORPHA:97279
Visceral Steatosis, Congenital
Coma, Neonatal death, Myocardial steatosis, Lethargy OMIM:228100
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Lethargy, Unsteady gait OMIM:603896
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Bradykinesia ORPHA:240103
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Exertiona... ORPHA:3093
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Ataxia, Cardiomyopathy OMIM:618321
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Respiratory insufficiency OMIM:166210
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy OMIM:236270
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure, Myopathy, C... ORPHA:90970
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Lethargy, Cardiomyopathy OMIM:614922
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Yellow Fever
Lethargy, Arrhythmia, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Congest... ORPHA:99829
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Dystonia, Atrial septal defect, Respiratory distress, Ventricular septal def... ORPHA:209905
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Macroglossia, Atrial septal defect, Respiratory distress, Short nose, Abnormal... ORPHA:505248
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Inability to walk, Atrial septal defect, Gait ataxia, Respiratory distress, Short nose, Flexion c... OMIM:619383
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Pulmonary artery hypoplasia, Heart murmur, Double ... ORPHA:2326
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Biotinidase Deficiency
Apnea, Lethargy, Respiratory distress, Ataxia, Laryngeal stridor, Limb muscle weakness, Hypervent... ORPHA:79241
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Mucopolysaccharidosis Type 1
Apnea, Abnormal heart valve morphology, Cough, Abnormal aortic valve morphology, Recurrent respir... ORPHA:579
Agnathia-Otocephaly Complex
Situs inversus totalis, Respiratory distress, Laryngeal hypoplasia, Tracheomalacia, Hypoplasia of... OMIM:202650
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Abnormal pericardium morp... ORPHA:2357
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Exertional dyspnea ORPHA:90033
Rift Valley Fever
Coma, Lethargy, Cardiac arrest, Gastrointestinal hemorrhage ORPHA:319251
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Craniofacial dystonia, Confusion, Facia... OMIM:607483
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Recurrent pneumonia, Wrist drop, Decreased muscle mass, Restrictive... ORPHA:1900
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy, Apnea OMIM:210200
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Wheezing, Right ventricular failure, Bronchospasm, Dyspnea, Hypo... ORPHA:97287
Aceruloplasminemia
Dystonia, Gait ataxia, Akinesia, Limb ataxia, Blepharospasm, Craniofacial dystonia, Ataxia, Torti... ORPHA:48818
Cholera
Lethargy, Hypotension, Tachycardia, Aspiration pneumonia, Hypovolemic shock, Tachypnea, Loss of c... ORPHA:173
Mucopolysaccharidosis, Type Ii
Macroglossia, Abnormal heart valve morphology, Flexion contracture, Congestive heart failure, Tra... OMIM:309900
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Episodic Ataxia Type 1
Calf muscle hypertrophy, Tip-toe gait, Respiratory distress ORPHA:37612
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Respiratory distress, Depressed nasal bridge ORPHA:226313
Arterial Tortuosity Syndrome
Dyspnea, Respiratory distress, Cardiorespiratory arrest, Short nose, Hypertension, Telangiectasia... ORPHA:3342
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Dyspnea, Chronic pulmonary obstruct... ORPHA:324
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Martsolf Syndrome 1
Tracheomalacia, Congestive heart failure, Cardiac arrest, Broad nasal tip, Recurrent respiratory ... OMIM:212720
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Epistaxis, Chylothorax, Congestive heart failure, Cerebral ischemia, H... ORPHA:137667
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Moebius Syndrome
Dysdiadochokinesis, Arthrogryposis multiplex congenita, Respiratory distress, Abnormal nasopharyn... OMIM:157900
Classic Galactosemia
Dystonia, Lethargy, Gait disturbance, Ataxia, Gait imbalance, Attention deficit hyperactivity dis... ORPHA:79239
Hypoglossia With Situs Inversus
Upper airway obstruction, Situs inversus totalis, Respiratory distress OMIM:612776
Exercise-Induced Malignant Hyperthermia
Hypocapnia, Delirium, Lethargy, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segme... ORPHA:466650
Myopathy With Lactic Acidosis, Hereditary
Palpitations, Dyspnea, Increased intramyocellular lipid droplets, Rhabdomyolysis, Myopathy OMIM:255125
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, ... ORPHA:70578
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Susac Syndrome
Confusion, Lethargy, Gait ataxia ORPHA:838
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Neonatal asphyxia, Congestive... ORPHA:525731
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Pulmonary edema, Respiratory distress OMIM:617300
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Respiratory distress, Wide nasal bridge, Patent foramen ovale, Wide nose ORPHA:89844
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Abnormal heart morphology, Aspiration p... ORPHA:314655
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Tachypnea, Hyperventilation OMIM:253270
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Apnea, Lethargy, Hypotension, Hypoglycemic coma, Ataxia, Cardiac arrest, Dilated cardiomyop... ORPHA:20
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Prominent nose, Aortic valve stenosis, Congestiv... OMIM:601808
Galactosemia
Dystonia, Lethargy, Gait disturbance, Ataxia, Gait imbalance ORPHA:352
Erdheim-Chester Disease
Dyspnea, Pulmonary fibrosis, Pleural effusion, Cough, Abnormal aortic valve morphology, Abnormal ... ORPHA:35687
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Respiratory distress, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Cushing Disease
Lethargy, Hypertension, Telangiectasia of the skin, Myopathy, Cardiomyopathy ORPHA:96253
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Pleural effusion, Reduced consciousness/confusion, Ataxia, Epistaxis... ORPHA:33226
Mitochondrial Complex I Deficiency, Nuclear Type 1
Coma, Lethargy, Ataxia, Abnormal mitochondria in muscle tissue, Respiratory insufficiency, Respir... OMIM:252010
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Amoebiasis Due To Free-Living Amoebae
Coma, Respiratory tract infection, Lethargy, Arrhythmia, Pneumonia, Ataxia, Confusion, Facial pal... ORPHA:68
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Supraventricular arrhythmia, Pulmonary fibrosis, Intracranial hemo... ORPHA:3260
Bacterial Toxic-Shock Syndrome
Respiratory tract infection, Tachypnea, Respiratory distress, Hypotension, Pneumonia, Confusion, ... ORPHA:36234
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Emphysema, Hyperten... ORPHA:363618
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:528
Atrial Standstill 2
Palpitations, Dyspnea, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave... OMIM:615745
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Respiratory distress, Unsteady gait, Wrist flexion contracture, Mus... OMIM:618733
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Palpitations, Ischemic stroke, Dyspnea, Bacterial endocarditis, Hemothorax,... ORPHA:2038
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Facial hypotonia, Respiratory distress, Underdeveloped nasal alae, Ataxia, Wide nasal b... ORPHA:438216
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Episodic ataxia, Lethargy, Ataxia OMIM:311250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia, Respiratory failure, Depre... OMIM:617895
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Drowsiness, Tachycardia, Lethargy ORPHA:263455
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Tibialis atrophy, Abnormal EKG, Abnormal echocardiogram, Intrinsic hand muscle atrophy, Weakness ... OMIM:302900
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Sinus... ORPHA:727
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Lethargy OMIM:615751
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, P... ORPHA:210122
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Epistaxis, Abn... ORPHA:774
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress, Skeletal muscle atrophy OMIM:619272
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Ataxia OMIM:618426
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Bulbous nose, Camptodactyly, Wide nasal bridge, Congestive heart failure, R... OMIM:617403
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia OMIM:201100
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Myxedema
Lethargy OMIM:255900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Coma, Lethargy OMIM:238970
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Abnormal heart morphology, Respiratory insufficiency, Congestive heart failure, Skele... OMIM:608779
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Reduced consciousness/confusion, Writer's cramp, Congestive heart failur... ORPHA:428
Vici Syndrome
Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Recurre... OMIM:242840
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Respiratory distress OMIM:618201
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Lethargy, Ataxia OMIM:237300
Congenital Enterovirus Infection
Respiratory distress, Hypotension, Pleural effusion, Pericardial effusion, Myocarditis, Cardiomyo... ORPHA:292
Isolated Complex I Deficiency
Lethargy, Respiratory insufficiency, Ataxia, Abnormal mitochondria in muscle tissue, Hypertrophic... ORPHA:2609
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Lethargy, Gait disturbance, Lower limb muscle weakness, Ataxia ORPHA:395
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Emphysema, Peripheral pulmonary artery stenosis, Respirato... ORPHA:90349
Methylmalonic Aciduria, Cblb Type
Coma, Lethargy, Respiratory distress OMIM:251110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Confusion, Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:71212
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Ventri... ORPHA:141127
Kniest Dysplasia
Respiratory distress, Gait disturbance, Tracheomalacia, Hip contracture, Depressed nasal bridge OMIM:156550
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy