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Gene: Tnni3 MGI:98783

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Pulmonary edema, Atrial fibrillation, Left atrial en... ORPHA:75249
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Apical hypertrophic cardiomyopathy OMIM:613690
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy 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, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... ORPHA:178464
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Butyrylcholinesterase Deficiency
Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation... ORPHA:132
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Neonatal respiratory distress, Lethargy ORPHA:254857
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers OMIM:616794
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmon... OMIM:619751
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:91130
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy, Lethargy ORPHA:26792
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy OMIM:618683
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Benign Samaritan Congenital Myopathy
Lethargy, Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Ce... ORPHA:324581
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Flexion contracture, Coug... ORPHA:77260
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency... ORPHA:157973
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Lethargy OMIM:613710
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Arrhythmia OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Lethargy... OMIM:618228
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak... OMIM:606842
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insufficiency due to mu... OMIM:310200
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral re... OMIM:212140
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... ORPHA:36238
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Depression, Bradykinesia, Apathy, Axial muscle stiffness ORPHA:240085
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Apnea, Congestive heart failure, Bradycardia, Left ventricular hypertrophy OMIM:619048
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension... ORPHA:1349
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy, Generalized amyotrophy OMIM:610006
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... ORPHA:185
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Myofiber disarray, Myopathy, Inspiratory stridor, Increased... OMIM:604377
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis, Cough ORPHA:163703
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Respiratory arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lethargy OMIM:600649
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Respiratory insufficiency OMIM:618224
Sandhoff Disease
Recurrent respiratory infections, Congestive heart failure ORPHA:796
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Developmental And Epileptic Encephalopathy 40
Lethargy, Hyaline membranes OMIM:617065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Ventri... ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Respiratory insufficiency, Myop... OMIM:609015
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... OMIM:616733
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnorm... OMIM:620233
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Lethargy, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... OMIM:614299
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respiratory insufficiency, Car... ORPHA:746
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur ORPHA:3400
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... ORPHA:980
Early Myoclonic Encephalopathy
Recurrent respiratory infections, Lethargy ORPHA:1935
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Babesiosis
Myocardial infarction, Recurrent pharyngitis, Congestive heart failure, Respiratory insufficiency... ORPHA:108
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Respiratory arrest, Tachypne... OMIM:201475
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abnormal pulmonary interstitial morpholog... ORPHA:99745
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Evans Syndrome
Dyspnea, Lethargy, Syncope, Epistaxis ORPHA:1959
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy ORPHA:156
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Hypertrophic cardiomyopathy OMIM:246900
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Lethargy, Arrhythmia, Exe... ORPHA:42
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,... ORPHA:454836
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Lethargy ORPHA:79312
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy ORPHA:276575
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation OMIM:229700
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy ORPHA:276580
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy, Cardiomegaly OMIM:619064
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Fle... ORPHA:367
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Lethargy ORPHA:71277
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Dilated cardiomyopathy ORPHA:79230
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Pulmonary edema, Atrial fibrillation, Left atrial en... ORPHA:75249
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... ORPHA:1194
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Scrub Typhus
Myocarditis, Dyspnea, Restrictive ventilatory defect, Hypotension, Cough, Lethargy ORPHA:83317
Pontocerebellar Hypoplasia, Type 6
Lethargy, Apnea, Elbow contracture OMIM:611523
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Respiratory insufficie... ORPHA:90308
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insufficiency, Cardio... ORPHA:159
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Cyclic Vomiting Syndrome
Cardiomyopathy, Lethargy OMIM:500007
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Neo... ORPHA:142
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... OMIM:265400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... ORPHA:99050
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl... OMIM:620278
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Isolated Atp Synthase Deficiency
Respiratory distress, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy ORPHA:254913
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Right ... ORPHA:422
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Atransferrinemia
Congestive heart failure OMIM:209300
Glycine Encephalopathy 1
Lethargy OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Apnea OMIM:618225
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora... ORPHA:1302
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Lethargy ORPHA:95717
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Lethargy ORPHA:2394
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventi... OMIM:620326
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Respiratory failure, Myopathy, Stillbirth, Neonatal death, Lethargy OMIM:614922
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failure, Abnormal heart morpho... ORPHA:70472
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency ORPHA:28
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocarditis, Cough ORPHA:1054
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Respirat... OMIM:617397
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Respiratory insufficiency, Lethargy ORPHA:27
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Lethargy, Limb hypertonia OMIM:606054
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
American Trypanosomiasis
Myocarditis, Congestive heart failure, Dyspnea, Cardiomyopathy, Cough, Arrhythmia ORPHA:3386
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arterial hypertension, ... OMIM:605711
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Respiratory distress OMIM:616974
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency... ORPHA:682
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Lethargy, Bipolar affective disorder, Facia... ORPHA:254892
Succinic Acidemia
Respiratory distress OMIM:600335
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia ORPHA:276608
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Apnea, Respiratory insufficiency OMIM:618226
Cednik Syndrome
Congestive heart failure ORPHA:66631
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia ORPHA:500533
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Lethargy OMIM:616483
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy OMIM:274400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Tachycardia, Syncope, Palpitations ORPHA:324575
Severe Canavan Disease
Lethargy ORPHA:314911
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Flexion contracture, Camptodactyly of finger ORPHA:261519
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Exertional dyspnea ORPHA:90037
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Pulmonary fib... ORPHA:220393
Citrullinemia Type I
Lethargy, Torticollis, Tachypnea ORPHA:247525
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormal pleura morphology, Crackles, Dyspnea, Myocardial fibrosis, Restrict... ORPHA:210136
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Necrotizing Enterocolitis
Shock, Apnea, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy ORPHA:391673
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Lethargy OMIM:251000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effusion OMIM:235200
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Weakness of facial musculature, Flexion contracture, Cardiomyopathy, Myopathy, Lethargy OMIM:201470
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... ORPHA:465508
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... ORPHA:97214
Mulibrey Nanism
Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction, Recurrent ... OMIM:253250
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Pleural empyema... ORPHA:67
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Dyspnea, Rhabdomyolysis, Car... ORPHA:26791
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Tachypnea, Lethargy OMIM:614857
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Cerebral ischemia ORPHA:927
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal... OMIM:300219
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia,... ORPHA:276432
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy ORPHA:289916
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Hypotensio... ORPHA:99828
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Ab... ORPHA:565612
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... OMIM:113900
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Limb hypertonia OMIM:233910
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Infantile Sialic Acid Storage Disease
Congestive heart failure, Cardiomegaly OMIM:269920
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... ORPHA:363705
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... ORPHA:423
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Arrhythmia, Cardiomegaly OMIM:255120
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage ORPHA:238459
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Bipolar affective disorder ORPHA:3077
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypopla... ORPHA:3309
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Tachypnea ORPHA:79242
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Neonatal respiratory distress OMIM:615042
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, Limb muscle weakness OMIM:619259
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Chronic pulm... ORPHA:324
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Tetralogy of Fallot OMIM:250620
Riboflavin Deficiency
Lethargy OMIM:615026
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipi... OMIM:608836
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Apnea, Cardiorespiratory arrest, Hypotension, Lethargy, Limb hypertonia OMIM:608643
Pyruvate Dehydrogenase Deficiency
Dyspnea, Lethargy, Tachypnea ORPHA:765
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... OMIM:160900
Developmental And Epileptic Encephalopathy 41
Lethargy, Flexion contracture OMIM:617105
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Telangiectasia, Knee flexion contracture, Muscul... OMIM:608799
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Lethargy ORPHA:95716
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Encephalitis Lethargica
Upper limb muscle weakness, Lethargy, Bradycardia, Hyperventilation ORPHA:83600
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Upper airway obstruction ORPHA:100057
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Recurrent respiratory infections, Respiratory distr... OMIM:211530
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Meningococcal Meningitis
Shock, Lethargy, Neonatal respiratory distress, Hypotension ORPHA:33475
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage OMIM:243500
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Pulmonary a... ORPHA:2326
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Glycogen acc... ORPHA:365
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress ORPHA:240103
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Malaria
Respiratory distress ORPHA:673
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... OMIM:615512
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Cholera
Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Lethargy, Hypervent... ORPHA:173
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con... ORPHA:137667
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... OMIM:617303
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Exertional dyspnea ORPHA:90033
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... ORPHA:3342
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Respiratory failure, Tachypnea OMIM:615838
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Congestive heart failure, Asthma, Flexion contracture, Recurrent... OMIM:309900
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Methylcobalamin Deficiency Type Cble
Hypertension, Lower limb hypertonia, Lethargy ORPHA:2169
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Dyspnea, Melena, Cough, Lethargy ORPHA:319218
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Congestive h... ORPHA:579
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... OMIM:616482
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ... ORPHA:1900
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lethargy... OMIM:607143
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Susac Syndrome
Lethargy, Apathy ORPHA:838
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Aarskog-Scott Syndrome
Congestive heart failure, Camptodactyly of finger ORPHA:915
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Cardiac arrest, Dilated cardiomyopathy, Tachypnea, Apathy, Hypotension, Lethargy ORPHA:20
Oromandibular Dystonia
Respiratory distress, Torticollis, Depression ORPHA:93958
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Biotinidase Deficiency
Respiratory distress, Apnea, Lethargy, Limb muscle weakness, Hyperventilation ORPHA:79241
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Lethargy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Lethargy OMIM:215600
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:528
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ... ORPHA:354
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Respiratory insufficiency OMIM:166210
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Atrial septal defect... OMIM:619383
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Bradycardia ORPHA:226313
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Hemothorax, Heart mu... ORPHA:2038
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Apnea OMIM:210200
Classic Galactosemia
Lethargy, Depression ORPHA:79239
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... OMIM:220110
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Respiratory distress ORPHA:89844
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Flexion contracture, Recurrent pneumonia OMIM:616271
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... OMIM:202650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Insulinoma
Lethargy, Palpitations ORPHA:97279
Erdheim-Chester Disease
Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Abnormal pulmonary interstiti... ORPHA:35687
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Myocarditis, Congestive heart f... ORPHA:466677
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Crackles, Rhabdomyolysis, Tachypnea, ST segment depression, Hypotension, H... ORPHA:466650
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Isolated Complex I Deficiency
Lethargy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Respiratory insuff... ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Concentric hypertrophic cardiomyopathy,... OMIM:252010
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Neonatal asphyxia, Hypertension, Palpitations, Sin... ORPHA:525731
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Vascul... ORPHA:727
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail... ORPHA:902
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Hypotension, Pleural eff... ORPHA:292
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... OMIM:601808
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... ORPHA:3260
Alstrom Syndrome
Congestive heart failure, Asthma, Dilated cardiomyopathy, Recurrent pneumonia, Hypertension OMIM:203800
Holocarboxylase Synthetase Deficiency
Lethargy, Tachypnea, Hyperventilation OMIM:253270
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:210122
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Congestive heart failure, Lethargy OMIM:617156
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... ORPHA:280365
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Pneumonia, Respiratory tract infec... ORPHA:36234
Autosomal Dominant Hypocalcemia
Congestive heart failure, Depression, Hypotension, Arrhythmia, Abnormal pattern of respiration ORPHA:428
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Dysplastic tricuspid... OMIM:612863
Martsolf Syndrome 1
Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Trach... OMIM:212720
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Cardiomegaly, Apathy, Pulmonary hypoplasia, Neonatal death, Arthrogr... OMIM:608013
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... OMIM:230500
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Tachycardia ORPHA:263455
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, ... OMIM:617300
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, Neonatal asphyx... OMIM:608779
Renal Hypoplasia, Bilateral
Hypertension, Neonatal respiratory distress, Lethargy ORPHA:97362
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... OMIM:157900
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Lower limb muscle weakness, Apnea ORPHA:395
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Lethargy, Abnormal heart morphology ORPHA:79284
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... OMIM:620369
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Respiratory tract infection, Lethargy, A... ORPHA:68
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture ORPHA:544503
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Lethargy ORPHA:90673
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy OMIM:251110
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Biotinidase Deficiency
Lethargy, Tachypnea, Apnea OMIM:253260
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... OMIM:615895
Semilobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, D... ORPHA:220386
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Cardiomegaly, Atrial septal defect, Left ventricula... ORPHA:79330
Alobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, D... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, D... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, D... ORPHA:93924
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis... ORPHA:2519
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Facial palsy OMIM:607483
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Recurrent respiratory infections, Apnea, Ragged-re... ORPHA:17
Dietary Iron Overload Disease
Congestive heart failure, Abnormal heart morphology ORPHA:139507
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Crackles, Myocarditis, Atelectasis, Nonproductive cough, Subconjunct... ORPHA:319213
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... ORPHA:90349
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h... ORPHA:79282
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Contractures of the large joints, Recurrent respiratory infections ORPHA:329178
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Aceruloplasminemia
Congestive heart failure, Torticollis, Apathy ORPHA:48818
Hemorrhagic Fever-Renal Syndrome
Shock, Respiratory distress, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... ORPHA:340
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Heart murmur, Mitral re... OMIM:614866
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia, Lethargy, Depression ORPHA:90674
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Myopathy, Hypertension, Congestive heart failure ORPHA:85450
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp... OMIM:217980
Maple Syrup Urine Disease
Lethargy OMIM:248600
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Congestive heart failure, Rhabdomyoly... ORPHA:533
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Lethargy OMIM:210210
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Joint... OMIM:617403
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscle weakness, Respirator... ORPHA:206436
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Lethargy, Dextrocardia OMIM:277380
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Lethargy OMIM:251100
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Neonatal asphyxia, Abnormal lung morphology, Dys... ORPHA:141127
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Cardiomegaly, Congestive heart failure, Recurrent pneumoni... OMIM:252500
Stt3B-Cdg
Respiratory distress ORPHA:370924
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Sudden cardi... ORPHA:537
Genetic Transient Congenital Hypothyroidism
Macroglossia, Lethargy ORPHA:226316
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ... ORPHA:508542
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Co... ORPHA:2331
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Glycine Encephalopathy
Lethargy, Respiratory acidosis, Breathing dysregulation ORPHA:407
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Aspiration, Cardio... ORPHA:2131
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Apical hypertrophic cardiomyopathy OMIM:613690
Medulloblastoma
Neoplasm of the lung, Lethargy, Cerebellar hemorrhage ORPHA:616
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers,... ORPHA:255210
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Macroglossia, Bradycardia, Lethargy OMIM:218700
Vici Syndrome
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... OMIM:242840
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Atelectasis, Re... ORPHA:333
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Trichinellosis
Retinal hemorrhage, Lethargy, Apathy, Facial palsy ORPHA:863
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Recurrent respiratory infections, Flexion contracture, Lethargy ORPHA:398069
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Abnormal heart morphology, Reflex asystolic sync... ORPHA:79329
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Geleophysic Dysplasia 1
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... OMIM:231050
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Congestive heart failure OMIM:617253
Marfan Syndrome
Pulmonary artery dilatation, Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation... OMIM:154700
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dyspnea, High-output congestive heart failure, Dilated cardiomyopa... ORPHA:231226
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Limb muscle weakness... ORPHA:1546
Kniest Dysplasia
Respiratory distress, Hip contracture, Tracheomalacia OMIM:156550
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea OMIM:615751
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Late-Onset Isolated Acth Deficiency
Lethargy, Orthostatic hypotension, Hypotension ORPHA:199299
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Facial palsy, Elbow flexion... ORPHA:79139
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Cough, Rhabdomyolysis, R... ORPHA:509
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress ORPHA:990
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Posterior Urethral Valve
Hypertension, Lethargy ORPHA:93110
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Ep... ORPHA:1199
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension ORPHA:100050
Citrullinemia Type Ii
Lethargy, Mania ORPHA:247585
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Nonproductive cough, Hypovolemia, Capillary leak, Subconjunctiv... ORPHA:99826
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... ORPHA:464
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Lethargy ORPHA:398079
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Abetalipoproteinemia
Cardiomegaly, Congestive heart failure, Myopathy, Respiratory failure, Distal lower limb muscle w... ORPHA:14
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Neonatal respiratory distress, Respiratory distress OMIM:260400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... ORPHA:2255
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Depression, Generalized amyotro... ORPHA:171
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Asthma, Abnormal heart morphology, Macroglos... ORPHA:444077
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat... OMIM:608328
Sepsis In Premature Infants
Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system ... ORPHA:90051
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Beta-Thalassemia Major
Hypoplasia of the musculature, Dyspnea, High-output congestive heart failure, Dilated cardiomyopa... ORPHA:231214
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy, Lethargy OMIM:307030
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelecta... ORPHA:536467
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy OMIM:201100
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Pericardial effusion, Raynaud phenomenon, Rhabdomyol... ORPHA:358
Hydranencephaly
Lethargy, Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage ORPHA:2177
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Leg muscle stiffness, Lethargy, Hypomimic face ORPHA:306674
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Recurrent upper respiratory tract infections, Bronchiectasis, Renovascu... ORPHA:391487
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Depression, Hypertension,... ORPHA:805
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hear... ORPHA:391665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... ORPHA:558
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... ORPHA:2556
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Respiratory distress OMIM:300968
Generalized Pustular Psoriasis
Congestive heart failure ORPHA:247353
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart failure, Flexion... OMIM:256040
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Pleural empyema, Cerebral i... ORPHA:228123
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Tachypnea ORPHA:415
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chiari syndrome, Lethargy ORPHA:447
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Bradycardia, Lethargy ORPHA:226307
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... OMIM:182250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Pneumonia, Interstitial pneumon... ORPHA:37042
Achondroplasia
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Hallermann-Streiff Syndrome
Tracheomalacia, Congestive heart failure, Respiratory insufficiency ORPHA:2108
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... ORPHA:79404
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart... ORPHA:79474
Diamond-Blackfan Anemia
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Lethargy, Abnormality... ORPHA:124
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... ORPHA:904
Lysinuric Protein Intolerance
Lethargy, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnormal heart morp... ORPHA:470
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Patent foramen ovale, Abnormal heart morp... ORPHA:177907
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h... OMIM:619475
Citrullinemia, Classic
Lethargy OMIM:215700
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A... OMIM:105650
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure OMIM:181270
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pulmonary arterial hypertension ORPHA:231222
Rodrigues Blindness
Nasal flaring OMIM:268320
Plague
Respiratory distress, Tachycardia, Hematemesis, Endocarditis, Depression, Acute infectious pneumo... ORPHA:707
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Meier-Gorlin Syndrome 1
Respiratory distress, Flexion contracture, Camptodactyly, Emphysema, Joint contracture of the hand OMIM:224690
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan... OMIM:114290
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Ramos-Arroyo Syndrome
Atrial septal defect, Respiratory distress ORPHA:1051
Argininosuccinic Aciduria
Lethargy OMIM:207900
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Parkes Weber Syndrome
Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Lower limb muscle ... ORPHA:90307
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Depression, Melena, Hypertension, Lethargy ORPHA:652
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Facial hypotonia, Intrinsic hand muscle a... OMIM:615273
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... ORPHA:3206
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy OMIM:256810
Pearson Marrow-Pancreas Syndrome
Lethargy OMIM:557000
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Cardiomegaly, Pericardi... ORPHA:51608
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger ORPHA:2554
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Lethargy OMIM:229600
Rubinstein-Taybi Syndrome 1
Respiratory distress, Ventricular septal defect, Respiratory tract infection, Flexion contracture... OMIM:180849
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Complete atrioventr... ORPHA:508488
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology, Macroglossia, Pulmonary hyp... ORPHA:798
Osteoglophonic Dysplasia
Respiratory distress, Camptodactyly of finger OMIM:166250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Perimembran... ORPHA:83617
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Pineoblastoma
Lethargy ORPHA:251909
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Depression, ... ORPHA:95455
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Atrioventricular canal defect OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Recurrent upper and lower respiratory tract infections, Res... ORPHA:480880
Carney Complex
Cardiac myxoma, Hypertension, Congestive heart failure ORPHA:1359
Doors Syndrome
Respiratory distress, Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Alström Syndrome
Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Recu... ORPHA:64
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... ORPHA:99646
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial eff... ORPHA:79318
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tnni3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tnni3.

No publications found that use IMPC mice or data for Tnni3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tnni3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tnni3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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