Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tryptophan hydroxylase 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tph1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Tph1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Dyspnea, Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricul... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Sudden death,... OMIM:602087
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio... OMIM:613838
Acute Peripheral Arterial Occlusion
Lower limb pain, Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycard... ORPHA:90064
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Pa... OMIM:608758
Atrial Septal Defect, Sinus Venosus Type
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... ORPHA:99105
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Right bundle branch block, Left anterior fascicular block, Ventricular tachycardi... OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602086
Paroxysmal Extreme Pain Disorder
Ocular pain, Mandibular pain, Anal pain, Rhinorrhea, Bradycardia, Tachycardia OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Splenomegaly, Congestive heart failure, Tachycardia, Pallor, Exertional dyspnea ORPHA:90037
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abdominal pain, Respiratory failure, Par... ORPHA:563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,... OMIM:613642
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... ORPHA:422
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Sudden death, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... OMIM:619897
Loeffler Endocarditis
Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Fatigue, Aortic regurg... ORPHA:75566
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Coronary Arterial Fistula
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hy... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Dyspnea, Mitral regurgitation, Increase... OMIM:620236
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Atri... OMIM:615770
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Fatigue, Right ventricular hypertrophy, Angina pectoris... OMIM:265400
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... OMIM:609040
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Dyspnea, Fatigue, Splenomegaly ORPHA:228312
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Trimethylaminuria
Recurrent pneumonia, Hypertension, Splenomegaly, Tachycardia OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Autoimmune Hemolytic Anemia
Dyspnea, Arrhythmia, Fatigue, Abdominal pain, Splenomegaly, Congestive heart failure, Pallor ORPHA:98375
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Complete Atrioventricular Septal Defect
Intercostal retractions, Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular c... ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Left Ventricular Noncompaction 1
Chest tightness, Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mit... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Splenomegaly, Congestive heart failure, Arthralgia, Tachycardia, Pallor, Exertional dyspnea ORPHA:90033
Acquired Methemoglobinemia
Dyspnea, Syncope, Palpitations, Arrhythmia, Hypoxemia, Fatigue, Abdominal pain, Respiratory distr... ORPHA:464453
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Pontiac Fever
Cough, Myalgia, Fatigue ORPHA:99748
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Right ventricular failure, Cough, Exercise intol... ORPHA:70589
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pallor ORPHA:276608
Isolated Right Ventricular Hypoplasia
Dyspnea, Systolic heart murmur, Right ventricular failure, Atrial septal defect, Hypoxemia, Right... ORPHA:439
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Constitutional symptom, Cough, Hepatomegaly, Res... ORPHA:50251
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Cardiomyopathy, Exercise intolerance, Supraventricular tachycardia OMIM:255100
Spontaneous Periodic Hypothermia
Pallor, Fatigue, Arrhythmia, Abnormal pattern of respiration ORPHA:29822
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 13
Chest pain, Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Dyspnea, Redu... OMIM:613243
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Arthralgia, Tachycardia, Pallor, Exertional dyspnea ORPHA:90036
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Right bundle branch block, Reduced left ventricular ejection fraction, Hepatomega... OMIM:115197
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Chronic fatigue OMIM:234810
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right bundle branch block, Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopath... OMIM:610193
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Familial Progressive Cardiac Conduction Defect
Dyspnea, Heart block, Syncope, Arrhythmia, Abdominal pain, Bundle branch block, Congestive heart ... ORPHA:871
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Dyspnea, Diffuse alveolar hemorrhage, Restrictive ventilatory defect, Cough, ... ORPHA:99931
Evans Syndrome
Dyspnea, Syncope, Fatigue, Petechiae, Epistaxis, Pallor ORPHA:1959
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Familial Dilated Cardiomyopathy
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... ORPHA:217607
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... ORPHA:860
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Abdominal pain, Respiratory paralysis, Tachycardia, Splenomegaly OMIM:121300
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Cardiomyopathy, Dilated, 1Bb
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... OMIM:612877
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... ORPHA:264675
Ebstein Malformation Of The Tricuspid Valve
Chest pain, Abnormal endocardium morphology, Atrial septal defect, Respiratory insufficiency, Arr... ORPHA:1880
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, ... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypertrophi... ORPHA:276575
Congenital Gerbode Defect
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... ORPHA:99095
X-Linked Sideroblastic Anemia
Pallor, Dyspnea, Fatigue, Splenomegaly ORPHA:75563
Gaucher Disease Type 2
Cardiac arrest, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of respiration, Splen... ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure, Fatigue, Abdominal pain OMIM:616794
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypertrophi... ORPHA:276580
Variegate Porphyria
Tachycardia, Abdominal pain OMIM:176200
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Fatigue ORPHA:79283
Rheumatic Fever
Myocarditis, Erythema, Endocarditis, Respiratory insufficiency, Arrhythmia, Abnormal mitral valve... ORPHA:3099
American Trypanosomiasis
Myocarditis, Dyspnea, Cough, Arrhythmia, Cardiomyopathy, Achalasia, Hepatomegaly, Abdominal pain,... ORPHA:3386
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Exercise intolerance, Respiratory... OMIM:613561
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary arterial hypertension... ORPHA:99106
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Hypoxemia, Pneumonia, Respiratory failure, Tachypnea, Bradycardia, T... ORPHA:70587
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Primary Familial Polycythemia
Dyspnea, Cough, Fatigue, Abdominal pain, Arthralgia, Epistaxis, Exertional dyspnea ORPHA:90042
Takayasu Arteritis
Abnormal endocardium morphology, Pulmonary arterial hypertension, Vasculitis, Hypertension, Abnor... ORPHA:3287
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... ORPHA:49827
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Hepatomegaly, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia... ORPHA:324575
Atrial Septal Defect, Coronary Sinus Type
Transient ischemic attack, Supraventricular arrhythmia, Bundle branch block, Exertional dyspnea, ... ORPHA:99104
Macrophagic Myofasciitis
Myalgia, Fatigue, Arthralgia ORPHA:592
Monosodium Glutamate Sensitivity
Palpitations, Dyspnea, Chest pain OMIM:231630
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Tuberculosis
Cough, Fatigue ORPHA:3389
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Arrhythmia, Palpitation... ORPHA:263297
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Fatigue, Myocardial infarction, Splenomegaly, Exertional dyspnea OMIM:133100
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myalgia, Exercise intolerance, Fatigue, Exertional dyspnea, Hypertrophic cardiom... ORPHA:368
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... ORPHA:615
Nipah Virus Disease
Hypotension, Cough, Fatigue, Respiratory distress, Myalgia ORPHA:99825
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Lower limb pain, Dyspnea, Hypertension, Exercise intolerance, Fatigue, Congestive heart failure, ... ORPHA:1349
Snakebite Envenomation
Pain, Erythema, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Ecchymosis, Cerebral isc... ORPHA:449285
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Dyspnea, Reduced left ventricular ejection fraction, Angina pectoris, ... OMIM:115195
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Hepatom... ORPHA:2414
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Dyspnea, Syncope, Sudden death, Sudden cardiac death, Prolonged P... OMIM:113900
Typhoid
Cardiac arrest, Epistaxis, Cough, Arrhythmia, Hepatomegaly, Fatigue, Abdominal pain, Gastrointest... ORPHA:99745
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... OMIM:613690
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy OMIM:605676
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Liddle Syndrome
Arrhythmia, Hypertension, Cerebral ischemia, Fatigue ORPHA:526
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Absence Of The Pulmonary Artery
Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Abnormal h... ORPHA:980
Hodgkin Lymphoma
Dyspnea, Cough, Bone pain, Hepatomegaly, Fatigue, Splenomegaly, Chest pain ORPHA:98293
Glycogen Storage Disease Xv
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular fibrillation, Paroxysmal ventricular... OMIM:613507
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Respiratory arrest OMIM:600649
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... ORPHA:94080
Tularemia
Neck pain, Ocular pain, Pleural effusion, Cough, Respiratory distress, Chills, Arthralgia, Pneumo... ORPHA:3392
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Tachycardia OMIM:603373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, Left bundle branch block, First degree atr... OMIM:615616
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Polymyositis
Vasculitis, Respiratory insufficiency, Arrhythmia, Abnormal atrioventricular conduction, Abnormal... ORPHA:732
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy OMIM:300580
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pain, Ventricular tachycardia, Tachypnea, Tachycardia, Ventricular septal defect, Atrial septal d... ORPHA:26793
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Hypoxemia, Capi... ORPHA:542323
Mantle Cell Lymphoma
Fatigue, Splenomegaly ORPHA:52416
Babesiosis
Respiratory insufficiency, Cough, Hepatomegaly, Fatigue, Congestive heart failure, Arthralgia, My... ORPHA:108
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Dyspnea, Left ventricular hypertrophy, Exercise intolerance, Fatigue, Hypertrophic cardiomyopathy... OMIM:615418
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Respiratory insufficiency, Syncope, Upper airway obstruction,... ORPHA:60032
Ethanolaminosis
Cardiomegaly OMIM:227150
Staphylococcal Necrotizing Pneumonia
Shivering, Dyspnea, Tachypnea, Pleural effusion, Hypotension, Cough, Hypoxemia, Nonproductive cou... ORPHA:36238
Cryptogenic Organizing Pneumonia
Dyspnea, Wheezing, Restrictive ventilatory defect, Cough, Hypoxemia, Night sweats, Fatigue, Nonpr... ORPHA:1302
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... OMIM:616201
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Fatigue OMIM:619477
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Histiocytoid Cardiomyopathy
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular septal defect, Cough, Atrial... ORPHA:137675
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia ORPHA:141152
Tetanus
Bowel incontinence, Hypertension, Rigors, Abdominal pain, Respiratory distress, Tachypnea, Bradyc... ORPHA:3299
Inhalational Anthrax
Dyspnea, Hypotension, Fatigue, Respiratory distress, Internal hemorrhage ORPHA:247257
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Chronic fatigue, Elevated calcitonin, Exertional dyspnea ORPHA:100083
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Hyperventilation, Hepatomegaly, Apnea, Tachycardia OMIM:229700
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... ORPHA:34217
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue, Decreased circulating T4 concentration OMIM:618573
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Cyclic Vomiting Syndrome
Cardiomyopathy, Exercise intolerance, Pallor, Abdominal pain OMIM:500007
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy, Hepatomegaly, Fatigue, Arthralgia OMIM:606069
Systemic Capillary Leak Syndrome
Myocarditis, Constitutional symptom, Hypotension, Cough, Arrhythmia, Cardiorespiratory arrest, Fa... ORPHA:188
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Respiratory insufficiency, Exercise intolerance,... OMIM:212350
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Congestive heart failure, Pericarditis, Pallor ORPHA:163596
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Neonatal respiratory distress, Fatigue OMIM:616326
Mercury Poisoning
Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Episodic abdominal... ORPHA:330021
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Fatigue, Hyperinsulinemic hypoglycemia ORPHA:79299
Congenital Myopathy 8
Respiratory insufficiency, Cardiomegaly, Congestive heart failure, Reduced vital capacity OMIM:618654
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia, Dilatation ... OMIM:600996
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Sudden death, Ventricular fibrillation,... OMIM:616247
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Refractory Anemia
Abnormal cardiac ventricular function, Dyspnea, Fatigue ORPHA:98826
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Hepatomegaly, Cardiorespira... OMIM:212138
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Dyspnea, Ventricular septal defect, Aborted sudden cardiac death... OMIM:614921
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Fatigue, Ecchymosis, Portal hypertension, Petechiae, Epistaxis, Splenomegaly OMIM:619463
Relapsing Fever
Epistaxis, Hypotension, Cough, Fatigue, Abdominal pain, Chills, Arthralgia, Myalgia, Tachycardia ORPHA:91547
Hydroxykynureninuria
Dry skin, Tachycardia, Breathing dysregulation, Hypotension ORPHA:79155
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise-induced myalgia, Dyspnea, Palpitations, Exercise intolerance, Fatigue, Abnormal heart mo... OMIM:618250
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Intermittent hyperventilation, Hepatomegaly, Respiratory distress, Episodic tachypnea, T... ORPHA:348
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Beta-Thalassemia
Respiratory insufficiency, Hepatomegaly, Pallor, Hypertrophic cardiomyopathy, Splenomegaly, Skin ... ORPHA:848
Hyperinsulinism Due To Insr Deficiency
Fasting hyperinsulinemia, Fatigue, Hyperinsulinemic hypoglycemia ORPHA:263458
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fatigue, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pallor ORPHA:263455
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation, Postex... ORPHA:90647
Dermatitis, Atopic
Facial erythema, Dry skin, Allergic rhinitis, Asthma, Pallor OMIM:603165
Sudden Cardiac Failure, Infantile
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... OMIM:617222
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... ORPHA:99094
Schnitzler Syndrome
Vasculitis, Bone pain, Hepatomegaly, Fatigue, Arthralgia, Myalgia, Splenomegaly ORPHA:37748
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... OMIM:614022
Juvenile Dermatomyositis
Vasculitis, Erythema, Dyspnea, Restrictive ventilatory defect, Arrhythmia, Dry skin, Cardiomyopat... ORPHA:93672
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Hepatomegaly, Fatigue, Splenomegaly, Respiratory failure, Pallor ORPHA:3226
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Decreased DLCO, Hypertension, Hypoxemia, Fatigue, Nonproductive cough, Crackl... ORPHA:79126
Meconium Aspiration Syndrome
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia... ORPHA:70588
Familial Idiopathic Dilatation Of The Right Atrium
Dyspnea, Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Pal... ORPHA:1677
Progressive Familial Heart Block, Type Ii
Syncope, Sudden death, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinu... OMIM:140400
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg... ORPHA:66529
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Fatigue, Gastrointestinal hemorrhage, Arthralgia, Mitral valve prolapse, Myalgia ORPHA:230839
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Erythema, Abnormal capillary physiology ORPHA:100057
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Acute Myelomonocytic Leukemia
Dyspnea, Pallor ORPHA:517
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Coenzyme Q10 Deficiency, Primary, 8
Pain, Hypertension, Respiratory distress, Left ventricular hypertrophy OMIM:616733
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Pleural effusion, Hypotension, Enlarged kidney, Incr... OMIM:261740
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Restrictive cardiomyopathy, Dilated cardiomyopa... OMIM:601419
Eisenmenger Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... ORPHA:97214
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Pleural effusion, Chronic pulmonary obstruction, Cough, Respiratory distress, Crackles, ... ORPHA:411703
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Left ventricular hypertrophy, Cough, Cardiomyopathy, Abdominal pain, Respiratory distress ORPHA:86812
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Hepatomegaly, Fatigue, Sudden cardiac death, Hypertrophic cardiomyopathy ORPHA:156
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Abnormal heart morphology, Apnea, Episodic tachypnea, Tachycardia ORPHA:79264
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... ORPHA:99125
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Cardiomyopathy, Dyspnea, Global systolic dysfunction OMIM:606842
Primary Myelofibrosis
Hepatosplenomegaly, Constitutional symptom, Hepatomegaly, Fatigue, Ecchymosis, Splenomegaly, Purp... ORPHA:824
Cold Agglutinin Disease
Hepatomegaly, Fatigue, Splenomegaly, Arthralgia, Back pain, Pallor ORPHA:56425
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... OMIM:611705
Refractory Anemia With Excess Blasts
Palpitations, Bone pain, Anemic pallor, Fatigue, Exertional dyspnea, Retinal hemorrhage ORPHA:86839
Polycythemia Vera
Respiratory insufficiency, Hypertension, Pulmonary embolism, Fatigue, Abdominal pain, Intermitten... ORPHA:729
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... OMIM:614096
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Dyspnea, Whe... ORPHA:97287
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma, Elevated circulating ca... OMIM:605373
Sepsis In Premature Infants
Dyspnea, Abnormal respiratory system physiology, Hypotension, Hepatomegaly, Splenomegaly, Purpura... ORPHA:90051
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death OMIM:612956
Leishmaniasis
Night sweats, Fatigue, Hepatomegaly, Splenomegaly, Arthralgia, Rhinitis, Pallor, Skin ulcer ORPHA:507
Avian Influenza
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Fatigue, Abdominal p... ORPHA:454836
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Erythema, Dilated cardiomyopathy OMIM:615821
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Dyspnea, Mitral regurgitation, Left atrial enlargement, Syncope, P... ORPHA:75249
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... OMIM:614473
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Arthralgia, Tachypnea, Pulmonary ... OMIM:616414
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Increased circulating free T4 concentration, Tachycardia OMIM:613239
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Respiratory failure requiring assisted ventilation, Left ventricula... ORPHA:308552
Hemochromatosis, Type 3
Purpura, Cardiomyopathy, Fatigue OMIM:604250
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Vasculitis, Dyspnea, Cough, Pulmonary embolism, Cardiorespirator... ORPHA:228116
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Respiratory failure requiring... ORPHA:555874
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced myalgia, Arrhythmia, Hepatomegaly, Fatigue, Cardiomegaly, Exertional dyspnea ORPHA:42
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Abdominal pain, Right ventricular hypertrophy, Internal hemorrhage,... ORPHA:335
Acute Lung Injury
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Shock, Respirat... ORPHA:178320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... ORPHA:254875
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... ORPHA:3426
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Reduced FEV1/FVC ratio, Central sleep apnea, Sy... ORPHA:70591
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect OMIM:613870
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Apnea, Abnormal ST segment, Cong... ORPHA:1055
Hemoglobin D Disease
Pallor, Abdominal pain, Splenomegaly ORPHA:90039
Ebstein Anomaly
Right bundle branch block, Atrial septal defect, Atrial standstill, Sudden cardiac death, Ebstein... OMIM:224700
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Fatigue, Asthenia, Decreased circulating cortisol level OMIM:611489
Cocaine Intoxication
Prolonged QRS complex, Hyperventilation, Abdominal pain, Supraventricular arrhythmia, Pneumothora... ORPHA:90068
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy, Apnea, Congestive heart fail... OMIM:619048
Chronic Beryllium Disease
Dyspnea, Abnormal respiratory system physiology, Abnormality on pulmonary function testing, Reduc... ORPHA:133
Asbestos Intoxication
Chest tightness, Oxygen desaturation on exertion, Dyspnea, Wheezing, Late inspiratory crackles, D... ORPHA:2302
Cardiac Diverticulum
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... ORPHA:1686
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension, Fatigue, Elevated circulating ... OMIM:263400
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Hemorrhagic Fever-Renal Syndrome
Intracranial hemorrhage, Abdominal pain, Respiratory failure, Epistaxis, Dyspnea, Hypotension, Pa... ORPHA:340
Cholangiocarcinoma
Fatigue, Abdominal pain ORPHA:70567
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Atrial Standstill 2
Atrial cardiomyopathy, Dyspnea, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, B... OMIM:615745
Combined Oxidative Phosphorylation Deficiency 54
Asthenia, Myalgia, Tachycardia OMIM:619737
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Cardiomyopathy, Hepatomegaly, Respiratory distress, Congestive heart failur... OMIM:212140
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla... ORPHA:3093
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171420
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Respiratory insufficiency, Hypertrophic cardio... OMIM:616276
Hereditary Coproporphyria
Respiratory insufficiency, Abdominal pain, Limb pain, Back pain, Tachycardia ORPHA:79273
Adiposis Dolorosa
Chronic pain, Fatigue, Arthralgia OMIM:103200
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Stridor, Wheezing ORPHA:137935
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia, Tachycardia OMIM:601887
Adult-Onset Still Disease
Myocarditis, Erythema, Restrictive ventilatory defect, Hepatomegaly, Fatigue, Abdominal pain, Art... ORPHA:829
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Epiphyseal Dysplasia, Multiple, 2
Knee pain, Foot pain, Fatigue OMIM:600204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Exercise intolerance, Fatigue, Bradycardia, Myalgia OMIM:609286
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Aspiration, Neonatal respiratory distress, Erythema, Ventricular septal defect, Hypertension, Apn... OMIM:614653
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... ORPHA:276621
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Fatigue ORPHA:279947
Legionnaires Disease
Myocarditis, Hypotension, Endocarditis, Restrictive ventilatory defect, Arrhythmia, Respiratory i... ORPHA:549
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Palmoplantar cutis laxa, Ventricu... ORPHA:363705
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Al Amyloidosis
Abnormal EKG, Dyspnea, Reduced left ventricular ejection fraction, Arrhythmia, Abnormal cardiac a... ORPHA:85443
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En... ORPHA:183
Spinal Arteriovenous Metameric Syndrome
Bone pain, Fatigue, Gangrene, Congestive heart failure, Arthralgia ORPHA:53721
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hypertension, Fatigue, Decreased circulating ACTH level, In... OMIM:615954
Bacterial Toxic-Shock Syndrome
Pain, Myocarditis, Tachypnea, Hypotension, Scaling skin, Capillary leak, Abdominal pain, Ecchymos... ORPHA:36234
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Abnormal heart valve morphology, Fatigue ORPHA:577
Optic Atrophy 1
Pallor OMIM:165500
Waldenström Macroglobulinemia
Vasculitis, Respiratory insufficiency, Hepatomegaly, Fatigue, Splenomegaly, Purpura, Gastrointest... ORPHA:33226
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Dyspnea, Enlarged kidney, Decreased DLCO, Restrictive ventilatory defect, Cou... ORPHA:79128
Intellectual Disability And Myopathy Syndrome
Sleep apnea, Left ventricular systolic dysfunction, Fatigue OMIM:619719
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Tricuspid regurgitation, Right v... ORPHA:275766
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Partial Atrioventricular Septal Defect
Mitral regurgitation, Hypoplastic left heart, Tetralogy of Fallot, Bacterial endocarditis, Syncop... ORPHA:1330
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Dry skin, Respiratory distress, Decreased circulating T4 concentration ORPHA:226313
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma, Elevated circulating ca... OMIM:168000
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Palpitations, Premature ventricular cont... OMIM:602668
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Syncope, Bone pain, Hepatomegaly, Fatigue, Abdominal pain, Splenomegaly, Arthralgia,... ORPHA:98849
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Paroxysmal dyspnea, Cardiomegaly, Chest... ORPHA:229
Mastocytosis
Hypotension, Respiratory insufficiency, Arrhythmia, Cough, Hepatomegaly, Fatigue, Gastrointestina... ORPHA:98292
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Cholestasis-Lymphedema Syndrome
Bone pain, Hepatomegaly, Fatigue, Abdominal pain, Portal hypertension, Gastrointestinal hemorrhag... ORPHA:1414
Analbuminemia
Fatigue, Hypotension OMIM:616000
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Fatigue, Splenomegaly ORPHA:231401
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Cor pulmonale, Respiratory failure, Tachypnea OMIM:263000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Hepatomegaly, Abdominal pain, Respiratory distress, Splenomegaly ORPHA:79312
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Productive cough, Bone pain, Fatigue, Abdominal pain, Ecchymosis, Pu... ORPHA:520
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Left ventricular hypertrophy, Cardiomyopathy, Exercise intolerance, Fatigue, Hepa... OMIM:617713
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Dyspnea, Wolff-Parkinson-White syndrome, Right axis deviation, Respirato... OMIM:232300
Hemochromatosis, Type 1
Arrhythmia, Cardiomyopathy, Hepatomegaly, Abdominal pain, Telangiectasia, Congestive heart failur... OMIM:235200
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Ischemic stroke, Fatigue, Abdominal pain, Gastrointestinal hemor... ORPHA:679
Hereditary Pheochromocytoma-Paraganglioma
Elevated calcitonin, Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension ... ORPHA:29072
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Fatigue, Splenomegaly ORPHA:86893
Botulism
Respiratory insufficiency, Arrhythmia, Fatigue, Abdominal pain ORPHA:1267
Lyme Disease
Arrhythmia, Fatigue, Atrioventricular block, Arthralgia, Myalgia ORPHA:91546
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Exercise intolerance, Hepatomegaly, Hyperinsulinemia, Splenomegaly, Recurrent pneumo... OMIM:613327
Cholera
Hypovolemic shock, Aspiration pneumonia, Palmoplantar cutis laxa, Hypotension, Hyperventilation, ... ORPHA:173
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory failure OMIM:614399
Symptomatic Form Of Hfe-Related Hemochromatosis
Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Hepatomegaly, Fatigue, Abdominal pa... ORPHA:465508
Congenital Tracheomalacia
Intercostal retractions, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Pr... ORPHA:95430
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Hyperaldosteronism, ... ORPHA:37553
Familial Focal Epilepsy With Variable Foci
Pain, Pallor ORPHA:98820
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Perching Syndrome
Respiratory distress OMIM:617055
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Classic Hodgkin Lymphoma
Respiratory insufficiency, Cough, Bone pain, Hepatomegaly, Fatigue, Splenomegaly, Chest pain ORPHA:391
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Hepatomegaly, Irregular respiration, Respiratory distress, Myofiber disarray, Hyp... OMIM:604377
Postpoliomyelitis Syndrome
Pain, Respiratory insufficiency, Fatigue, Hypoventilation, Arthralgia, Myalgia ORPHA:2942
Succinic Acidemia
Respiratory distress OMIM:600335
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... ORPHA:444013
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Hypotension, Respiratory insufficiency, Arrhythmia, Cardiomyopathy, Sudd... ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Cardiomegaly, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Breath-Holding Spells
Pallor OMIM:607578
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Follicular Lymphoma
Pleural effusion, Night sweats, Fatigue, Splenomegaly ORPHA:545
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Tachypnea, Respiratory insufficiency, Hepatomegaly, Respiratory distress, Respiratory failure, Di... OMIM:614299
Scorpion Envenomation
Pain, Myocarditis, Erythema, Arrhythmia, Hypertension, Abdominal pain, Prominent U wave, Prematur... ORPHA:466677
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Patent foramen ovale OMIM:617182
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Dyspnea, Syncope, Fatigue, Hyperinsulinemia, Orthostatic syncope, Orthostatic hypot... ORPHA:230
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Cardiomegaly OMIM:614702
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, Hypercapnia, High-output congestive heart failure, Supraventricular tach... ORPHA:423
Iatrogenic Botulism
Dyspnea, Fatigue, Orthostatic hypotension ORPHA:254509
Barth Syndrome
Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive heart failure, Inc... OMIM:302060
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Fatigue, Arthralgia, Myalgia, Splenomegaly OMIM:616050
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myalgia, Tachypnea, Reduced left ventricular ejection fraction, Hepatomegaly, Su... OMIM:201475
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Arrhythmia, Hypertension, Abnormal ... OMIM:540000
Reynolds Syndrome
Respiratory insufficiency, Mucosal telangiectasiae, Hepatomegaly, Fatigue, Telangiectasia of the ... ORPHA:779
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Cardiomegaly, Ventricular hypertrophy, Tricuspid regurgitation, ... OMIM:619051
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Congestive heart failure, Pallor, Splenomegaly ORPHA:75564
Undifferentiated Pleomorphic Sarcoma
Fatigue ORPHA:2023
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Cerebral ischemia, Fatigue ORPHA:927
Ethylene Glycol Poisoning
Tachypnea, Hypotension, Tachycardia, Prolonged QT interval, Hypertension, Congestive heart failur... ORPHA:31826
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena, Fatigue ORPHA:98870
Malaria
Respiratory distress, Myalgia ORPHA:673
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... OMIM:610913
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea OMIM:267450
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Fatigue, Hypotension, Decreased circulating ACTH level ORPHA:95619
Paroxysmal Nocturnal Hemoglobinuria 2
Dyspnea, Arthralgia, Fatigue, Abdominal pain OMIM:615399
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Respiratory insufficiency, Cough, Fatigue, Sinusitis, Gangrene, Loca... OMIM:608710
Giant Cell Arteritis
Vasculitis, Epistaxis, Cough, Arrhythmia, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Carney Triad
Arrhythmia, Hypertension, Fatigue, Abdominal pain, Gastrointestinal hemorrhage, Tachycardia ORPHA:139411
Porphyria Variegata
Hypertension, Abdominal pain, Skin vesicle, Back pain, Respiratory paralysis, Tachycardia, Chest ... ORPHA:79473
Whipple Disease
Myocarditis, Hypotension, Respiratory insufficiency, Cough, Hepatomegaly, Fatigue, Abdominal pain... ORPHA:3452
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Hepatomegaly, Respiratory fai... ORPHA:254864
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Pfapa Syndrome
Hepatomegaly, Fatigue, Abdominal pain, Arthralgia, Splenomegaly ORPHA:42642
Hereditary Spherocytosis
Hepatomegaly, Abdominal pain, Splenomegaly, Restrictive cardiomyopathy, Chills, Myalgia, Pallor, ... ORPHA:822
Renal Nutcracker Syndrome
Tachycardia, Syncope, Fatigue, Abdominal pain, Orthostatic hypotension, Flank pain ORPHA:71273
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Tachycardia, Abnormal heart morphology, Atrial septal defect ORPHA:485405
Q Fever
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Cough, Night sweats, Fatigue, Hepatome... ORPHA:781
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Bowel incontinence, Left ventricular hypertrophy, Respiratory insufficiency, Left ven... ORPHA:365
Fabry Disease
Chronic pulmonary obstruction, Abdominal pain, Transient ischemic attack, Angina pectoris, Bundle... ORPHA:324
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Scimitar Syndrome
Pulmonary arterial hypertension, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Hear... ORPHA:185
Mixed Connective Tissue Disease
Myocarditis, Pulmonary arterial hypertension, Dyspnea, Hepatomegaly, Fatigue, Splenomegaly, Purpu... ORPHA:809
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Right ventricular failure, Bronchospasm, Facial telangiectasia, Chronic fatigue, Night s... ORPHA:100085
Thymic Carcinoma
Cough, Chest pain, Dyspnea, Fatigue ORPHA:99868
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Pa... OMIM:618652
Porphyria, Acute Intermittent
Urinary incontinence, Hypertension, Abdominal pain, Tachycardia, Respiratory paralysis OMIM:176000
Familial Cold Urticaria
Erythema, Fatigue, Abdominal pain, Arthralgia, Myalgia ORPHA:47045
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Atrial septal defect, Restrictive ventilatory defect, Respiratory ... ORPHA:70
Beta-Ketothiolase Deficiency
Hypotension, Cough, Hypertension, Hepatomegaly, Body odor, Tachypnea, Pallor ORPHA:134
Insulinoma
Palpitations, Fasting hyperinsulinemia, Fatigue, Hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:97279
Myopathy And Diabetes Mellitus
Respiratory distress, Myalgia, Exercise intolerance ORPHA:2596
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Abdominal pain, Bundle branch block, Arthralgia, Bradycardia, Epistaxi... ORPHA:99827
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Respiratory insufficiency, Hepatomegaly, Respiratory distress, Portal hyperte... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy OMIM:616974
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Cardiorespiratory arrest, Sudden death, Apnea, Bronchospasm, Bradycardia, Stridor, Abnormal patte... OMIM:608800
Congenital Isolated Acth Deficiency
Hypotension, Fatigue, Decreased circulating cortisol level ORPHA:199296
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Dominant Beta-Thalassemia
Hepatosplenomegaly, Dyspnea, High-output congestive heart failure, Arrhythmia, Splenomegaly, Arth... ORPHA:231226
Sheehan Syndrome
Dry skin, Chronic fatigue, Palpitations, Decreased serum estradiol, Chills, Arthralgia, Orthostat... ORPHA:91355
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Fatigue ORPHA:1215
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Fatigue, Congestive heart failure, Myalgia OMIM:619259
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Hepatomegaly, Fatigue, Apnea, Dilated cardiomyopathy, Tachypnea, Pallor ORPHA:20
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Respiratory insufficiency, Hypertension, Apnea, Cardiomegaly OMIM:618886
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... ORPHA:97292
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Abnormal Hair, Joint Laxity, And Developmental Delay
Snoring, Lower limb pain, Mitral regurgitation, Fatigue, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Aneurysm Of Sinus Of Valsalva
Dyspnea, Bacterial endocarditis, Cough, Aortic regurgitation, Congestive heart failure, Heart mur... ORPHA:1054
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Pulmonary arterial hypertension, Mitral regurgitation, Enlarged kidney, Atria... ORPHA:505248
Plague
Hypotension, Endocarditis, Arrhythmia, Dry skin, Hepatomegaly, Fatigue, Abdominal pain, Splenomeg... ORPHA:707
Granulomatosis With Polyangiitis
Chronic pulmonary obstruction, Abdominal pain, Angina pectoris, Arthralgia, Epistaxis, Skin ulcer... ORPHA:900
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism, Hepatomegaly, Fatigue, Splenomegaly OMIM:185000
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Constitutional symptom, Hypotension, Bone pain, Fatigue, Abdominal pain, Port... ORPHA:98850
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Dyspnea, Redundant skin, Telangiectasia of the skin, Hypertension, C... ORPHA:3342
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... ORPHA:542306
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bone pain, Hepatomegaly, Splenomegaly, Chronic fatigue OMIM:610539
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Cough, Hypertension, Ri... OMIM:178600
Porphyria
Chest pain, Hypertension, Fatigue, Abdominal pain ORPHA:738
Beta-Thalassemia Major
Hepatosplenomegaly, Dyspnea, High-output congestive heart failure, Arrhythmia, Hepatomegaly, Sple... ORPHA:231214
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Respiratory distress, Sinusitis, Bronchiectasis, Immotile c... OMIM:606763
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Pallor, Splenomegaly OMIM:615631
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pituitary Apoplexy
Trigeminal neuralgia, Elevated circulating growth hormone concentration, Hypotension, Increased c... ORPHA:95613
Thyroid Lymphoma
Pain, Dyspnea, Upper airway obstruction, Respiratory distress, Stridor ORPHA:97285
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Abdominal pain, Transient ischemic attack, Supraventricular arrhythmia, ... ORPHA:3260
Cardiac-Valvular Ehlers-Danlos Syndrome
Dyspnea, Mitral regurgitation, Atrial septal defect, Left ventricular hypertrophy, Abnormal heart... ORPHA:230851
Mast Cell Sarcoma
Hepatomegaly, Fatigue, Splenomegaly ORPHA:66661
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Atrial flutter, Aortic valve stenosis, Congestive ... ORPHA:324410
Von Hippel-Lindau Disease
Myocarditis, Elevated circulating catecholamine level, Arrhythmia, Cardiomyopathy, Palpitations, ... ORPHA:892
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Dyspnea, Tachypnea, Restrictive ventilatory defect, Respiratory ... ORPHA:60025
Pheochromocytoma
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171300
Rare Circulatory System Disease
Pain, Shoulder pain, Intermittent claudication, Knee pain, Pallor ORPHA:98028
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Toxic Epidermal Necrolysis
Erythema, Restrictive ventilatory defect, Cough, Fatigue, Abdominal pain, Sudden cardiac death, R... ORPHA:537
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Bacterial endocarditis, Cough, Pa... ORPHA:2038
Simple Cryoglobulinemia
Raynaud phenomenon, Vasculitis, Hypertension, Fatigue, Abdominal pain, Abnormal heart morphology,... ORPHA:91139
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Hepatomegaly... OMIM:612387
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Pulmonary arterial hypertension, High-output congestive heart failure, Hepato... ORPHA:231222
Stevens-Johnson Syndrome
Erythema, Dyspnea, Restrictive ventilatory defect, Cough, Fatigue, Abdominal pain, Sudden cardiac... ORPHA:36426
Graft Versus Host Disease
Hepatosplenomegaly, Scaling skin, Abdominal pain, Pneumonia, Tachycardia ORPHA:39812
Wild Type Attr Amyloidosis
Abnormal EKG, Bowel incontinence, Arrhythmia, Hepatomegaly, Myocardial infarction, Congestive hea... ORPHA:330001
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Erythema, Tachycardia, Left ventricular hypertrophy OMIM:618321
Auriculocondylar Syndrome 2
Respiratory distress, Snoring, Apnea OMIM:614669
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Hepatomegaly, Splenomegaly OMIM:608799
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Isolated Agammaglobulinemia
Pneumonia, Sinusitis, Fatigue, Skin ulcer ORPHA:229717
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Bowel incontinence, Redundant skin, Palmoplantar cutis laxa, Uri... OMIM:616482
Rh Deficiency Syndrome
Hepatosplenomegaly, Tachycardia, Hypoxemia, Tachypnea ORPHA:71275
Serotonin Syndrome
Tachycardia, Hypertension, Hypotension, Tachypnea ORPHA:43116
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor, Apnea ORPHA:439218
Anaplastic Thyroid Carcinoma
Pain, Dyspnea, Cough, Upper airway obstruction, Respiratory distress, Stridor