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Gene: Tph1 MGI:98796

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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:
tryptophan hydroxylase 1
Synonyms:
N/A

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 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
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Ches... ORPHA:334
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Sudden death, Focal necrosis of right ventricular muscle cells,... OMIM:602087
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Limb pain, Pallor, Supr... ORPHA:90064
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Atrial Standstill
Ventricular tachycardia, Mobitz I atrioventricular block, Postexertional symptom exacerbation, Fa... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Paroxysmal Extreme Pain Disorder
Tachycardia, Ocular pain, Anal pain, Bradycardia, Mandibular pain, Rhinorrhea OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Exertional dyspnea ORPHA:90037
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiolog... ORPHA:422
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Sudden death, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Pulmonary Hypertension, Primary, 5
Fatigue, Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arter... OMIM:265400
Congenital Heart Block
Fatigue, Exercise intolerance, First degree atrioventricular block, Gallop rhythm, Pericardial ef... ORPHA:60041
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Hypertension OMIM:602079
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Acquired Methemoglobinemia
Respiratory distress, Fatigue, Tachycardia, Abdominal pain, Dyspnea, Hypoxemia, Syncope, Palpitat... ORPHA:464453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Exercise... ORPHA:70589
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Tachycardia, Splenomegaly, Congestive heart failure, Arthralgia, Pallor, Exertional dyspnea ORPHA:90033
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Pontiac Fever
Fatigue, Myalgia, Cough ORPHA:99748
Isolated Right Ventricular Hypoplasia
Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventr... ORPHA:439
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ... ORPHA:50251
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Tachycardia, Hyperinsulinemia, Pallor, Hyperinsulinemic hypoglycemia ORPHA:276608
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Post... ORPHA:3092
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Exercise intolerance, Respiratory insufficiency OMIM:255100
Spontaneous Periodic Hypothermia
Fatigue, Arrhythmia, Abnormal pattern of respiration, Pallor ORPHA:29822
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Hypertension, Respiratory paralysis OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Arthralgia, Pallor, Exertional dyspnea ORPHA:90036
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue, Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:234810
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Evans Syndrome
Fatigue, Epistaxis, Dyspnea, Syncope, Pallor, Petechiae ORPHA:1959
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Idiopathic Pulmonary Hemosiderosis
Fatigue, Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur... ORPHA:99931
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... ORPHA:860
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Abdominal pain, Heart block, Congestive heart failure, Dyspnea, Syncope, Arr... ORPHA:871
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
High Altitude Pulmonary Edema
Exercise intolerance, Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Chest pain... ORPHA:330012
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive h... ORPHA:1880
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Cough, Abnormal pattern of resp... ORPHA:77260
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Hyperinsulinemic hypoglycemia, Hypertro... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Syncope, Palpitations, Pallor, Hyperinsulinemic hypo... ORPHA:276575
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Fatigue, Pallor ORPHA:75563
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Congestive heart failure, Respiratory failure, Abdominal pain OMIM:616794
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Syncope, Palpitations, Pallor, Hyperinsulinemic hypo... ORPHA:276580
Variegate Porphyria
Tachycardia, Abdominal pain OMIM:176200
Rheumatic Fever
Fatigue, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abdominal pain, Myo... ORPHA:3099
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Exercise intolerance, Respiratory insufficiency due to muscle... OMIM:613561
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Chest pain, Abnormal U wave, V... OMIM:611818
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
American Trypanosomiasis
Hepatomegaly, Abdominal pain, Splenomegaly, Myocarditis, Congestive heart failure, Dyspnea, Cardi... ORPHA:3386
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Pallor ORPHA:79283
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating T4 concentration OMIM:603373
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Takayasu Arteritis
Abnormal endocardium morphology, Fatigue, Gangrene, Abnormal heart valve morphology, Myocardial i... ORPHA:3287
Primary Familial Polycythemia
Fatigue, Epistaxis, Abdominal pain, Dyspnea, Arthralgia, Cough, Exertional dyspnea ORPHA:90042
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Fatigue, Anomalous pu... ORPHA:99104
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Syncope, Palpitations, Pallor, Hyperinsulinemic hypo... ORPHA:324575
Macrophagic Myofasciitis
Fatigue, Arthralgia, Myalgia ORPHA:592
Tuberculosis
Fatigue, Cough ORPHA:3389
Monosodium Glutamate Sensitivity
Dyspnea, Chest pain, Palpitations OMIM:231630
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hyperte... ORPHA:1349
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Erythrocytosis, Familial, 1
Fatigue, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Hypertension, Exertional dyspnea OMIM:133100
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Exercise intolerance, Tachycardia, Exercise-induced myalgia, Postexertional symptom exac... ORPHA:368
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Nipah Virus Disease
Respiratory distress, Fatigue, Myalgia, Hypotension, Cough ORPHA:99825
Snakebite Envenomation
Pain, Tachycardia, Epistaxis, Myocardial infarction, Erythema, Intracranial hemorrhage, Respirato... ORPHA:449285
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Epistaxis, Cardiac arrest, Abdominal pain, Sp... ORPHA:99745
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Sudden death, Right bundle branch... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Non-Functioning Paraganglioma
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Chest pain, Palp... ORPHA:94080
Liddle Syndrome
Fatigue, Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Ventricular tachycardi... OMIM:601005
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... ORPHA:980
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest OMIM:600649
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Neck pain, Ocular pain, Arthralgia, Asthenia, Myalg... ORPHA:3392
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respir... ORPHA:542323
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Respiratory distress, Ventricular septal defect... ORPHA:26793
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Abnormal atrioventricular condu... ORPHA:732
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Exercise intolerance, Cardiomegaly, Congesti... OMIM:300257
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Exercise intolerance, Dyspnea, Heart murmur, Myalgia, Left ventricular hypertrophy, Hype... OMIM:615418
Cryptogenic Organizing Pneumonia
Respiratory distress, Fatigue, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wh... ORPHA:1302
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Babesiosis
Fatigue, Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Respiratory... ORPHA:108
Ethanolaminosis
Cardiomegaly OMIM:227150
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Aspiration pneumonia OMIM:619477
Mantle Cell Lymphoma
Fatigue, Splenomegaly ORPHA:52416
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Increased circulating procalcitonin concentration, Gangrene, Pneumon... ORPHA:36238
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Tetanus
Respiratory distress, Rigors, Tachycardia, Bowel incontinence, Abdominal pain, Tachypnea, Hyperte... ORPHA:3299
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Apnea, Dyspnea, Hyperventilation OMIM:229700
Inhalational Anthrax
Respiratory distress, Fatigue, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Fatigue OMIM:618573
Cyclic Vomiting Syndrome
Exercise intolerance, Cardiomyopathy, Pallor, Abdominal pain OMIM:500007
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Systemic Capillary Leak Syndrome
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Cardiorespiratory arrest, Pleural effusion, M... ORPHA:188
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Elevated circulating calcitonin concentration, Increased serum serotonin, Exerti... ORPHA:100083
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Sengers Syndrome
Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, P... OMIM:212350
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Cardiomyopathy, Arthralgia, Arrhythmia OMIM:606069
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Episodic abdominal pain, Hypertension, Respiratory fa... ORPHA:330021
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Neonatal respiratory distress, Respiratory insufficiency OMIM:616326
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Pallor ORPHA:163596
Congenital Myopathy 8
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Congenital Glucokinase-Related Hyperinsulinism
Fatigue, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:79299
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Sudden death... OMIM:616247
Portal Hypertension, Noncirrhotic, 2
Fatigue, Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Ecchymosis, Petechiae OMIM:619463
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal re... ORPHA:60033
Refractory Anemia
Fatigue, Dyspnea, Abnormal cardiac ventricular function ORPHA:98826
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... OMIM:212138
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Exercise intolerance, Left... ORPHA:57777
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Hydroxykynureninuria
Tachycardia, Dry skin, Hypotension, Breathing dysregulation ORPHA:79155
Relapsing Fever
Fatigue, Tachycardia, Epistaxis, Abdominal pain, Arthralgia, Myalgia, Hypotension, Cough, Chills ORPHA:91547
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise intolerance, Dyspnea, Abnormal heart morphology, Exercise-induced myalgia, Myal... OMIM:618250
Congenital Disorder Of Glycosylation, Type It
Fatigue, Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular sep... OMIM:614921
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... ORPHA:348
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Skin ulcer, Pallor, Hypertrophic cardiomyo... ORPHA:848
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Hyperinsulinism Due To Insr Deficiency
Fatigue, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:263458
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fatigue, Hepatomegaly, Tachycardia, Hyperinsulinemia, Pallor, Hyperinsulinemic hypoglycemia ORPHA:263455
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Acute Interstitial Pneumonia
Fatigue, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis,... ORPHA:79126
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Postexertional symptom exacerbation, Arrhythmia, Prolonged QTc inter... ORPHA:90647
Laubry-Pezzi Syndrome
Aortic regurgitation, Fatigue, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal d... ORPHA:99094
Schnitzler Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Vasculitis, Bone pain, Arthralgia, Myalgia ORPHA:37748
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,... ORPHA:70588
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Fatigue, Angina pectoris, Telangi... ORPHA:93672
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Sudden death, Atrioventricular block, Complete heart block with narrow QRS ... OMIM:140400
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Fatigue, Mitral valve prolapse, Arthralgia, Myalgia, Arrhythmia ORPHA:230839
Glucocorticoid Resistance, Generalized
Fatigue, Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, In... OMIM:615962
Deafness-Lymphedema-Leukemia Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Respiratory failure, Pallor ORPHA:3226
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration pneumonia ORPHA:79264
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Erythema, Upper airway obstruction ORPHA:100057
Acute Myelomonocytic Leukemia
Dyspnea, Pallor ORPHA:517
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension OMIM:619751
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Respiratory distress, Pain OMIM:616733
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Abdominal pain, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy ORPHA:86812
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... ORPHA:97214
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Tachycardia, Palpitations, Hypertension associated with... OMIM:605373
Refractory Anemia With Excess Blasts
Fatigue, Anemic pallor, Bone pain, Retinal hemorrhage, Palpitations, Exertional dyspnea ORPHA:86839
Primary Myelofibrosis
Fatigue, Hepatomegaly, Portal hypertension, Splenomegaly, Flank pain, Hepatosplenomegaly, Pallor,... ORPHA:824
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Cardiomyopathy, Respiratory insufficiency, Global systolic dysfunction OMIM:606842
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Congestiv... OMIM:261740
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Angina pectoris, Epistaxis, Portal hypertensi... ORPHA:729
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Cold Agglutinin Disease
Fatigue, Hepatomegaly, Back pain, Splenomegaly, Arthralgia, Pallor ORPHA:56425
Avian Influenza
Respiratory distress, Fatigue, Pneumonia, Productive cough, Abdominal pain, Congestive heart fail... ORPHA:454836
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... ORPHA:97287
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Arthralgia, Cough, Decreased DLCO, Pulmonary ... OMIM:616414
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Splenomegaly, Dyspnea, Nasal flaring, ... ORPHA:90051
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Hemochromatosis, Type 3
Fatigue, Cardiomyopathy, Purpura OMIM:604250
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... ORPHA:75249
Leishmaniasis
Fatigue, Hepatomegaly, Splenomegaly, Night sweats, Skin ulcer, Rhinitis, Arthralgia, Pallor ORPHA:507
Adiposis Dolorosa
Fatigue, Arthralgia, Chronic pain OMIM:103200
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hughes-Stovin Syndrome
Fatigue, Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Chest pain, Cough, Pu... ORPHA:228116
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Hepatomegaly, Cardiomegaly, Exercise-induced myalgia, Arrhythmia, Exertional dyspnea ORPHA:42
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Exercise intolerance, Chronic fatigue, Respiratory insufficiency due to mus... ORPHA:254875
Congenital Fibrinogen Deficiency
Tachycardia, Abdominal pain, Left ventricular hypertrophy, Internal hemorrhage, Right ventricular... ORPHA:335
Chronic Beryllium Disease
Fatigue, Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, ... ORPHA:133
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... ORPHA:178320
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, H... ORPHA:3426
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect OMIM:613870
Corticosteroid-Binding Globulin Deficiency
Fatigue, Decreased circulating cortisol level, Hypertension, Asthenia, Hypotension OMIM:611489
Hemoglobin D Disease
Splenomegaly, Pallor, Abdominal pain ORPHA:90039
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Asbestos Intoxication
Exercise intolerance, Reduced vital capacity, Right ventricular failure, Reduced forced vital cap... ORPHA:2302
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventric... OMIM:619048
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Flank pain, Tachypnea, Cough,... ORPHA:90068
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Chest pain, Palp... ORPHA:276621
Erythrocytosis, Familial, 2
Fatigue, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Elevated circulating ... OMIM:263400
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitra... OMIM:212140
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Back pain, Intracranial hemorrhage, Cough, Ecchymosis, Chills, Internal hem... ORPHA:340
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Bradycardia... ORPHA:226313
Cholangiocarcinoma
Fatigue, Abdominal pain ORPHA:70567
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Combined Oxidative Phosphorylation Deficiency 54
Myalgia, Tachycardia, Asthenia OMIM:619737
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Hypert... OMIM:616276
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Chronic Thromboembolic Pulmonary Hypertension
Fatigue, Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, In... ORPHA:70591
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Hereditary Coproporphyria
Back pain, Tachycardia, Abdominal pain, Respiratory insufficiency, Limb pain ORPHA:79273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Cardiomyopathy, Myalgia, Bradycardia, Arrhythmia OMIM:609286
Epiphyseal Dysplasia, Multiple, 2
Fatigue, Knee pain, Foot pain OMIM:600204
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Erythema, Retinal h... OMIM:614653
Adult-Onset Still Disease
Fatigue, Hepatomegaly, Pericarditis, Abdominal pain, Splenomegaly, Myocarditis, Erythema, Restric... ORPHA:829
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Tachycardia, Palpitations, Hypertension associated with... OMIM:168000
Legionnaires Disease
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Splenomegaly, Endocarditis, Respiratory insuf... ORPHA:549
Postorgasmic Illness Syndrome
Fatigue, Hypertension, Palpitations ORPHA:279947
Optic Atrophy 1
Pallor OMIM:165500
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Exercise intoler... ORPHA:363705
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Epistaxis, Splenomegaly, Congestive heart fai... ORPHA:33226
Lymphoid Interstitial Pneumonia
Fatigue, Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia... ORPHA:79128
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mor... ORPHA:183
Mucolipidosis Type Iii
Abnormal heart valve morphology, Fatigue, Abnormal aortic valve morphology ORPHA:577
Spinal Arteriovenous Metameric Syndrome
Fatigue, Congestive heart failure, Bone pain, Arthralgia, Gangrene ORPHA:53721
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Pain, Pneumonia, Abdominal pain, Myocarditis... ORPHA:36234
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Fatigue, Decreased circulating ACTH concentration, Hypertension... OMIM:615954
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Myalgia, Elevated circ... OMIM:602668
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Cerebral hemorrhage, Congestive heart failure, Elevated circulating calcitonin concentra... ORPHA:29072
Cholestasis-Lymphedema Syndrome
Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Splenome... ORPHA:1414
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function, Paroxysmal dyspnea, Chest... ORPHA:229
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fatigue, Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Bone pain, Syncope, Arthralgia,... ORPHA:98849
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
Analbuminemia
Fatigue, Hypotension OMIM:616000
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Splenomegaly, Fatigue ORPHA:231401
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Abdominal pain, Splenomegaly, Cardiomyopathy ORPHA:79312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Fatigue, Nonproductive cough, Abnormal c... ORPHA:85443
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Hepatomegaly, Exercise intolerance, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v... OMIM:617713
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Exercise intolerance, Urinary... OMIM:232300
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Congestive heart failure, Telangiectasi... OMIM:235200
Acute Promyelocytic Leukemia
Fatigue, Purpura, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Abdominal pain, Bone ... ORPHA:520
Botulism
Fatigue, Arrhythmia, Respiratory insufficiency, Abdominal pain ORPHA:1267
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Fatigue, Telangiectasia of the skin, Abnormal pericardium morphology... ORPHA:679
Cholera
Tachycardia, Abdominal pain, Tachypnea, Hypovolemic shock, Abdominal cramps, Hypotension, Aspirat... ORPHA:173
Lyme Disease
Fatigue, Atrioventricular block, Arthralgia, Myalgia, Arrhythmia ORPHA:91546
Familial Focal Epilepsy With Variable Foci
Pain, Pallor ORPHA:98820
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Exercise intolerance, Sple... OMIM:613327
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Fatigue ORPHA:86893
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage ORPHA:238459
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Tachypnea, Exercise-induced myalgia, Reduced le... OMIM:201475
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Classic Hodgkin Lymphoma
Fatigue, Hepatomegaly, Splenomegaly, Bone pain, Respiratory insufficiency, Chest pain, Cough ORPHA:391
Perching Syndrome
Respiratory distress OMIM:617055
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hepatomegaly, Decreased serum testosterone concentration, Portal hypertension, Cardiomeg... ORPHA:465508
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Cardiomyocyte mitochondrial prolife... ORPHA:423
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Postpoliomyelitis Syndrome
Fatigue, Hypoventilation, Respiratory insufficiency, Arthralgia, Myalgia, Pain ORPHA:2942
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... OMIM:614299
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomy... ORPHA:159
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, Hypertrophic cardiomyopath... OMIM:604377
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Abnormal EKG, Orthostatic hypotension, Dyspnea, Hyperinsulinemia, Syncope, Orthostatic s... ORPHA:230
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Scorpion Envenomation
Pain, Bundle branch block, Tachycardia, Cardiac conduction abnormality, Abdominal pain, Myocardit... ORPHA:466677
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Follicular Lymphoma
Fatigue, Splenomegaly, Pleural effusion, Night sweats ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased circulating ACTH concentration, Fatigue, Hypotension ORPHA:95619
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Fatigue, Cerebral ischemia ORPHA:927
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion OMIM:614702
Breath-Holding Spells
Pallor OMIM:607578
Iatrogenic Botulism
Fatigue, Dyspnea, Orthostatic hypotension ORPHA:254509
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Myalgia, Pulmonary arterial hyper... OMIM:619051
Autoinflammation With Infantile Enterocolitis
Fatigue, Diffuse alveolar hemorrhage, Splenomegaly, Arthralgia, Myalgia OMIM:616050
Reynolds Syndrome
Fatigue, Hepatomegaly, Telangiectasia of the skin, Skin ulcer, Respiratory insufficiency, Myalgia... ORPHA:779
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Exercise intolerance, Dilated cardiomyopathy, Arrhythmia, Hyp... ORPHA:254913
Barth Syndrome
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... OMIM:302060
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Hepatomegaly, Pallor, Congestive heart failure ORPHA:75564
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Flank p... ORPHA:31826
Undifferentiated Pleomorphic Sarcoma
Fatigue ORPHA:2023
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Malaria
Respiratory distress, Myalgia ORPHA:673
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Porphyria Variegata
Back pain, Tachycardia, Abdominal pain, Hypertension, Chest pain, Respiratory paralysis, Skin ves... ORPHA:79473
Congenital Dyserythropoietic Anemia Type Iii
Melena, Fatigue, Pallor ORPHA:98870
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Dyspnea, Arthralgia, Abdominal pain OMIM:615399
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Arthralgia, Emphysema, ... ORPHA:324
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Fatigue OMIM:619719
Giant Cell Arteritis
Fatigue, Pericarditis, Gangrene, Epistaxis, Sudden cardiac death, Abdominal pain, Vasculitis, Ski... ORPHA:397
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Carney Triad
Gastrointestinal hemorrhage, Fatigue, Tachycardia, Abdominal pain, Hypertension, Arrhythmia ORPHA:139411
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Abdominal pain, Hypertension, Respiratory paralysis OMIM:176000
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Myocardial infarction, Abdomina... ORPHA:3452
Pfapa Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Splenomegaly, Arthralgia ORPHA:42642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Scimitar Syndrome
Respiratory distress, Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresi... ORPHA:185
Hereditary Spherocytosis
Hepatomegaly, Abdominal pain, Splenomegaly, Skin ulcer, Chills, Myalgia, Pallor, Restrictive card... ORPHA:822
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Fatigue, Abnormal heart valve morphology, Pneum... ORPHA:781
Renal Nutcracker Syndrome
Fatigue, Orthostatic hypotension, Tachycardia, Abdominal pain, Flank pain, Syncope ORPHA:71273
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Insulinoma
Fatigue, Fasting hyperinsulinemia, Hyperinsulinemia, Palpitations, Hyperinsulinemic hypoglycemia ORPHA:97279
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Acute Radiation Syndrome
Fatigue, Skin ulcer, Telangiectasia, Interstitial pneumonitis, Scaling skin, Hypotension ORPHA:454831
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Splenomegaly, Myocarditis, Dysp... ORPHA:809
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep... OMIM:618652
Granulomatosis With Polyangiitis
Fatigue, Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrha... OMIM:608710
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic fatigue, Right ventricular failure, Dyspnea, Night sweats, Heart murmur, Ep... ORPHA:100085
Familial Cold Urticaria
Fatigue, Abdominal pain, Erythema, Arthralgia, Myalgia ORPHA:47045
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Tachycardia,... OMIM:609152
Thymic Carcinoma
Fatigue, Dyspnea, Chest pain, Cough ORPHA:99868
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Proximal Spinal Muscular Atrophy
Fatigue, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle ... ORPHA:70
Myopathy And Diabetes Mellitus
Respiratory distress, Exercise intolerance, Myalgia ORPHA:2596
Beta-Ketothiolase Deficiency
Hepatomegaly, Tachypnea, Hypertension, Body odor, Pallor, Hypotension, Cough ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Chronic fatigue, Reduced circulati... ORPHA:91355
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Arthralgia, Ecchymosis, Chills, Internal... ORPHA:99827
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Fatigue, Transient ischemic attack, Exercise intol... ORPHA:365
Congenital Isolated Acth Deficiency
Fatigue, Decreased circulating cortisol level, Hypotension ORPHA:199296
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardio... ORPHA:367
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Sudden death, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Abnormal patte... OMIM:608800
Dominant Beta-Thalassemia
Splenomegaly, High-output congestive heart failure, Dilated cardiomyopathy, Dyspnea, Skin ulcer, ... ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Respiratory distress OMIM:616974
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Fatigue, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myalgia OMIM:619259
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly OMIM:269920
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Cardiomyopathy ORPHA:1215
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Hepatomegaly, Apnea, Cardiac arrest, Dilated cardiomyopathy, Tachypnea, Pallor, Hypotension ORPHA:20
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension OMIM:618886
Plague
Respiratory distress, Hepatomegaly, Tachycardia, Fatigue, Abdominal pain, Hematemesis, Splenomega... ORPHA:707
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Granulomatosis With Polyangiitis
Sinusitis, Arthralgia, Cough, Fatigue, Abdominal pain, Vasculitis, Chronic pulmonary obstruction,... ORPHA:900
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Chest pain, Bacterial endo... ORPHA:1054
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Chronic fatigue, Bone pain OMIM:610539
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Abdominal pain, Bone pain, Hepatosplen... ORPHA:98850
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Fatigue, Pulmonary embolism OMIM:185000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Abnormal he... ORPHA:505248
Arterial Tortuosity Syndrome
Respiratory distress, Fatigue, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction,... ORPHA:3342
Von Hippel-Lindau Disease
Back pain, Myocardial infarction, Abdominal pain, Myocarditis, Abnormal left ventricular function... ORPHA:892
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Beta-Thalassemia Major
Hepatomegaly, Splenomegaly, High-output congestive heart failure, Dilated cardiomyopathy, Dyspnea... ORPHA:231214
Pituitary Apoplexy
Fatigue, Elevated circulating growth hormone concentration, Reduced circulating prolactin concent... ORPHA:95613
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Pallor 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
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Fatigue, Tricuspid regurgitation, Abnormal heart v... ORPHA:230851
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Fatigue, Pain, Epistaxis, Intracranial hemorrhage, Arthralgia, Asthe... ORPHA:324636
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Arthralgia, Pallor, Cough, Abd... ORPHA:3260
Pulmonary Alveolar Microlithiasis
Fatigue, Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary... ORPHA:60025
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Fatigue, Sudden cardiac death, Abdominal pain,... ORPHA:537
Adiposis Dolorosa
Arthralgia, Fatigue, Dry skin, Telangiectasia of the skin ORPHA:36397
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventila... OMIM:612387
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Fatigue ORPHA:66661
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Pain ORPHA:97285
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Fatigue, Sudden cardiac death, Myocardial infarction, Abdominal pain... ORPHA:36426
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Myocardial infarction, Abdominal pain, Raynau... ORPHA:91139
Serotonin Syndrome
Hypertension, Tachycardia, Tachypnea, Hypotension ORPHA:43116
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... ORPHA:2038
Beta-Thalassemia Intermedia
Hepatomegaly, Splenomegaly, High-output congestive heart failure, Skin ulcer, Hepatosplenomegaly,... ORPHA:231222
Graft Versus Host Disease
Tachycardia, Pneumonia, Abdominal pain, Hepatosplenomegaly, Scaling skin ORPHA:39812
Isolated Agammaglobulinemia
Fatigue, Sinusitis, Pneumonia, Skin ulcer ORPHA:229717
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Erythema OMIM:618321
Acute Intermittent Porphyria
Back pain, Tachycardia, Urinary incontinence, Abdominal pain, Respiratory insufficiency, Hyperten... ORPHA:79276
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... ORPHA:330001
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Rh Deficiency Syndrome
Hypoxemia, Tachycardia, Tachypnea, Hepatosplenomegaly ORPHA:71275
Hennekam-Beemer Syndrome
Fatigue, Telangiectasia of the skin, Pneumonia, Abdominal pain, Erythema, Respiratory insufficien... ORPHA:2135
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Rigors, Crackles, Myocarditis, Nonproductive cough, Subconjunctival ... ORPHA:319213
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Redundant skin, Urinary incontinence, Bowel incontinence, Co... OMIM:616482
Dermatomyositis
Fatigue, Pericarditis, Gangrene, Telangiectasia of the skin, Myocardial infarction, Myocarditis, ... ORPHA:221
Pituicytoma
Fatigue, Abnormal circulating adrenocorticotropin concentration, Decreased serum testosterone con... ORPHA:251623
Congenital Disorder Of Glycosylation, Type Ie
Splenomegaly, Hepatomegaly, Respiratory distress, Telangiectasia OMIM:608799
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Abnormal heart morphology ORPHA:1143
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough, Pain ORPHA:142
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Atrial septal defect, Pulmo... ORPHA:2519
Neuroleptic Malignant Syndrome
Fatigue, Rigors, Tachycardia, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia... ORPHA:94093
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Chest pain, Cough, Decreas... ORPHA:747
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue OMIM:253601
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Rheumatoid Arthritis
Fatigue, Vasculitis, Arthralgia OMIM:180300
Autoimmune Hypoparathyroidism
Prolonged QT interval, Dyspnea, Abnormal left ventricular function, Chest pain, Ventricular arrhy... ORPHA:36913
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue, Hepatomegaly OMIM:618549
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Increased circulating T4 concentration, Increased circulating free T4 concentration, Ele... OMIM:274300
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Aspiration, Cardiomyopathy, Pallor, ... ORPHA:2131
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Fatigue, Asthenia OMIM:618107
Myofibrillar Myopathy 11
Reduced forced vital capacity, Fatigue OMIM:619178
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Poliomyelitis
Fatigue, Respiratory failure requiring assisted ventilation, Exercise intolerance, Hypertension, ... ORPHA:2912
Alexander Disease
Fatigue OMIM:203450
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Non-Functioning Pituitary Adenoma
Fatigue, Reduced circulating prolactin concentration, Increased circulating gonadotropin level, D... ORPHA:91349
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Fatigue OMIM:306000
Amyotrophic Lateral Sclerosis
Fatigue, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Pain ORPHA:803
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Lower limb pain OMIM:261990
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Wiskott-Aldrich Syndrome
Fatigue, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardiac death, Hematem... ORPHA:906
Ileal Neuroendocrine Tumor
Chronic fatigue, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Episodic abdo... ORPHA:100078
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Exercise intolerance, Respiratory insufficiency due to muscle... OMIM:220110
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:210122
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue ORPHA:589905
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Bradycardia OMIM:619814
Goodpasture Syndrome
Fatigue, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea,... OMIM:233450
Tsh-Secreting Pituitary Adenoma
Fatigue, Supraventricular arrhythmia, Elevated circulating growth hormone concentration, Pericard... ORPHA:91347
Thyroid Hemiagenesis
Fatigue ORPHA:95719
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Pallor ORPHA:536516
Letterer-Siwe Disease
Dyspnea, Pallor, Hepatosplenomegaly OMIM:246400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Restrictive ventilatory defect, Pallor OMIM:600462
Pediatric Hepatocellular Carcinoma
Fatigue, Hepatomegaly, Epigastric pain, Abdominal pain ORPHA:33402
Hellp Syndrome
Back pain, Fatigue, Shoulder pain, Cerebral hemorrhage, Abdominal pain, Hypotension, Epigastric p... ORPHA:244242
Aregenerative Anemia
Fatigue, Dyspnea, Pallor ORPHA:101096
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue, Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating ho... ORPHA:99832
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Castleman Disease
Fatigue, Abdominal pain, Dyspnea, Flank pain, Cough, Constitutional symptom, Restrictive cardiomy... ORPHA:160
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Decreased sensitivity to hypoxemia, Tachycardia OMIM:223900
Myotonia Fluctuans
Stridor, Fatigue, Apnea, Myalgia ORPHA:99734
Gitelman Syndrome
Prolonged QT interval, Fatigue, Abdominal pain, Ventricular tachycardia, Arthralgia, Palpitations... OMIM:263800
Athyreosis
Fatigue ORPHA:95713
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Decreased thyroid-stimulating hormone level, Bradycardia, Decreased circulating T4 conce... ORPHA:90674
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Retinitis Pigmentosa 51
Pallor OMIM:613464
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Nocardiosis
Respiratory distress, Fatigue, Pericarditis, Abnormal heart valve morphology, Pneumonia, Producti... ORPHA:31204
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95512
Mirizzi Syndrome
Abdominal colic, Tachycardia, Abdominal pain, Epigastric pain, Chills ORPHA:521219
Lead Poisoning
Fatigue, Abdominal pain, Asthma, Abnormal respiratory system physiology, Hypertension, Decreased ... ORPHA:330015
Alveolar Echinococcosis
Fatigue, Low back pain, Abnormal pericardium morphology, Portal hypertension, Abdominal pain, Dys... ORPHA:284
Tetrasomy 5P
Respiratory distress, Redundant neck skin, Congestive heart failure, Heart murmur, Pulmonary arte... ORPHA:3309
Erdheim-Chester Disease
Fatigue, Abnormal pericardium morphology, Abdominal pain, Dyspnea, Congestive heart failure, Bone... ORPHA:35687
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Papa Syndrome
Fatigue, Arthralgia, Skin ulcer ORPHA:69126
Gaisböck Syndrome
Fatigue, Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Hypovolemia, Elevated dia... ORPHA:90041
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Atrial fibrillation, Dilated cardiomyopathy, Respiratory insuffici... ORPHA:254892
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor OMIM:615234
Prolactinoma
Fatigue, Elevated circulating growth hormone concentration, Decreased circulating ACTH concentrat... ORPHA:2965
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Dysplastic tricuspid... OMIM:612863
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Unclassified Myelodysplastic Syndrome
Fatigue, Night sweats ORPHA:98827
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Childhood Absence Epilepsy
Urinary incontinence, Pallor, Hyperventilation ORPHA:64280
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Congenital Myopathy 22A, Classic
Fatigue, Tricuspid regurgitation, Bradycardia, Respiratory insufficiency OMIM:620351
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue OMIM:618049
Fixed Drug Eruption
Fatigue, Chills, Erythema ORPHA:293812
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Chills, Arthralgia, Myalgia OMIM:120100
Acute Adrenal Insufficiency
Fatigue, Orthostatic hypotension, Decreased circulating cortisol level, Myocardial infarction, Ab... ORPHA:95409
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Anemia, Sideroblastic, 1
Anemic pallor, Asthenia OMIM:300751
Marburg Hemorrhagic Fever
Shock, Back pain, Pericarditis, Tachycardia, Abdominal pain, Nonproductive cough, Hypovolemia, Ca... ORPHA:99826
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Pseudo-Torch Syndrome 2
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal de... OMIM:617397
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Cardiomyopathy, Abnorma... OMIM:217980
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Immunodeficiency 70
Achalasia, Chronic fatigue, Recurrent sinusitis OMIM:618969
Panhypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95513
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory distress OMIM:619383
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pallor OMIM:613839
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Hypotension, Pleural eff... ORPHA:292
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Respiratory distress ORPHA:89844
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Kawasaki Disease
Fatigue, Pericarditis, Abnormal heart valve morphology, Abdominal pain, Myocarditis, Congestive h... ORPHA:2331
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Late-Onset Isolated Acth Deficiency
Fatigue, Orthostatic hypotension, Decreased circulating cortisol level, Abdominal pain, Decreased... ORPHA:199299
Poems Syndrome
Fatigue, Pain, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictiv... ORPHA:2905
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Fatigue, Abdominal pain, Dyspnea, Pneumothorax, Chylopericardium, Re... ORPHA:538
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Pulmonary embolism, Abdominal pain, Dyspnea, Hypertension, Pleural effusion ORPHA:567546
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue, Pallor, Hepatosplenomegaly ORPHA:300298
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Fatigue, Crackles, Tachypnea, Dry skin, ST segment depression, Hypotension... ORPHA:466650
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue ORPHA:171612
Mal De Débarquement
Fatigue ORPHA:210272
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... ORPHA:209905
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Apnea, Redundant skin, Cardiomegaly, Secundum atrial ... OMIM:300855
Dravet Syndrome
Pallor ORPHA:33069
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Infection-Related Hemolytic Uremic Syndrome
Fatigue, Pneumonia, Abdominal pain, Dyspnea, Myocarditis, Hypertension, Pleural empyema, Pallor, ... ORPHA:544482
Cinca Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Arthralgia, Myalgia, Purpura ORPHA:1451
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Dubin-Johnson Syndrome
Fatigue, Hepatomegaly, Abdominal pain ORPHA:234
Hereditary Angioedema Type 1
Respiratory distress, Abdominal pain, Dyspnea, Hypotension, Inspiratory stridor ORPHA:100050
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myocardial contrac... ORPHA:158687
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Fatigue, Abdominal pain ORPHA:2930
Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respirat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respirat... ORPHA:98853
Gaucher Disease Type 3
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial e... ORPHA:77261
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Abdominal ... ORPHA:509
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly ORPHA:289916
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Congestive heart failure, Recurrent pneumonia, ... OMIM:617303
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Vasculitis, Bone pain ORPHA:324964
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Autosomal Agammaglobulinemia
Fatigue, Sinusitis, Bronchiectasis, Cough ORPHA:33110
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Congestive ... OMIM:615512
Vexas Syndrome
Fatigue, Night sweats, Arthralgia, Arteritis OMIM:301054
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Abnormal cardiomyocyte morphology, Cardiomy... ORPHA:565612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue OMIM:613157
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
X-Linked Agammaglobulinemia
Fatigue, Sinusitis, Skin ulcer, Recurrent pneumonia ORPHA:47
Nasolacrimal Duct Cyst
Intercostal retractions, Ocular pain, Episodic respiratory distress, Stridor, Paroxysmal dyspnea,... ORPHA:141083
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Premature ventricular contraction OMIM:617072
Elliptocytosis 1
Splenomegaly, Pallor OMIM:611804
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Hypoxemia, Hypertension OMIM:603903
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Respirat... ORPHA:98863
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Bone pain, Pallor, Chroni... ORPHA:667
Inhalational Botulism
Fatigue, Dyspnea ORPHA:254504
Irida Syndrome
Pallor ORPHA:209981
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Respira... OMIM:608836
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decr... ORPHA:293978
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Fatigue, Gangrene, Myocardial in... ORPHA:117
Shigellosis
Fatigue, Pneumonia, Abdominal pain, Myocarditis, Hypovolemic shock, Asthenia, Abdominal cramps, P... ORPHA:810
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Listeriosis
Respiratory distress, Back pain, Pericarditis, Fatigue, Pneumonia, Abdominal pain, Myocarditis, C... ORPHA:533
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Hypertrophic cardiomyopathy OMIM:607426
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Dyspne... OMIM:123700
Generalized Pustular Psoriasis
Fatigue, Congestive heart failure, Arthralgia, Pain ORPHA:247353
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Abdominal pain OMIM:620166
Eosinophilic Fasciitis
Fatigue, Arthralgia, Myalgia ORPHA:3165
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Fatigue ORPHA:257
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Decreased adipon... ORPHA:280365
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Abdominal pain, Dyspnea, Cardiomyopathy ORPHA:79430
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Petech... OMIM:608013
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Fatigue, Increased circulating ACTH level, Abnormal circulating... ORPHA:786
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated ... ORPHA:98855
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Urinary incontinence, Abdominal pain, Pericardial ef... ORPHA:358
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Becker Muscular Dystrophy
Exercise intolerance, Fatigue, Myalgia ORPHA:98895
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Chronic fatigue, Spider hemangioma, Abdominal pain, Splenomegaly, Ar... ORPHA:2137
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Pallor OMIM:266200
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis OMIM:202650
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Atr... ORPHA:79330
Liposarcoma
Fatigue, Abdominal pain ORPHA:69078
Cystinosis
Fatigue, Portal hypertension ORPHA:213
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Immunodeficiency 58
Fatigue, Psoriasiform lesion, Allergic rhinitis, Asthma, Chronic pulmonary obstruction, Recurrent... OMIM:618131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Exercise intolerance, Left bundle branch block, Myalgia, Arrhythmia, Ventricular bigeminy OMIM:610131
Chikungunya
Fatigue, Shoulder pain, Epistaxis, Raynaud phenomenon, Erythema, Arthralgia, Myalgia, Skin vesicl... ORPHA:324625
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Bradycardia, Dry skin OMIM:610768
Esophageal Atresia
Respiratory distress, Ventricular septal defect, Episodic respiratory distress, Chronic pulmonary... ORPHA:1199
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Hepatomegaly, Exercise intolerance, Splenomegaly, Cardiomyopathy, Myalgia ORPHA:264580
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor ORPHA:329971
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Respiratory distress ORPHA:206436
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Abnormal heart morphology, Reflex asystolic sync... ORPHA:79329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Zygomycosis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Sinusitis, Epistaxis, Abdominal pain, Hematem... ORPHA:73263
Multiple Endocrine Neoplasia Type 2
Neck pain, Elevated circulating parathyroid hormone level, Palpitations, Pallor, Elevated circula... ORPHA:653
Herpes Simplex Virus Encephalitis
Fatigue, Respiratory failure requiring assisted ventilation, Chills ORPHA:1930
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue ORPHA:209335
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... ORPHA:404443
Hyperprolinemia Type 2
Exercise intolerance, Chronic fatigue, Myalgia, Abdominal pain ORPHA:79101
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Abdominal pain ORPHA:65682
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ep... OMIM:268800
Plummer-Vinson Syndrome
Pallor, Abdominal pain ORPHA:54028
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Pallor, Abdominal pain OMIM:300908
Acute Monoblastic/Monocytic Leukemia
Fatigue, Exertional dyspnea ORPHA:514
Brain Dopamine-Serotonin Vesicular Transport Disease
Stridor, Fatigue ORPHA:352649
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal ... ORPHA:228308
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Fatigue, Ventricular septal defect OMIM:617061
Stt3B-Cdg
Respiratory distress ORPHA:370924
Retinitis Pigmentosa 75
Pallor OMIM:617023
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Recurrent pneumonia OMIM:616271
Lynch Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Fatigue, Cardiac diverticulum ORPHA:144
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Stridor OMIM:615595
Degcags Syndrome
Hepatomegaly, Tachycardia, Ventricular septal defect, Pneumonia, Tracheomalacia, Asthma, Hepatosp... OMIM:619488
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Autosomal Dominant Dopa-Responsive Dystonia
Fatigue, Hypertension ORPHA:98808
Arachnoiditis
Fatigue, Arthralgia ORPHA:137817
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Creatine Phosphokinase, Elevated Serum
Fatigue, Myalgia OMIM:123320
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Macs Syndrome
Fatigue, Redundant skin, Bronchiectasis, Cutis laxa OMIM:613075
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Chronic fatigue, Skin ulcer, Abdominal pain ORPHA:424016
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hepatomegaly, Pallor OMIM:194380
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Episodic fatigue, Pulmonary venous hypertension, Abdominal pain ORPHA:3202
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Secondary Intestinal Lymphangiectasia
Fatigue, Abdominal colic, Right ventricular failure, Intestinal bleeding, Constrictive pericardit... ORPHA:90363
Functioning Gonadotropic Adenoma
Fatigue, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Abnormal prolacti... ORPHA:91348
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Abdominal pain, Flank pain, Renovascular hypertension, Large vessel vascu... ORPHA:49041
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Abdominal pain, Fatigue, Cardiac diverticulum ORPHA:440437
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Bradypnea, Respiratory failure OMIM:617186
Coccidioidomycosis
Respiratory distress, Fatigue, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Chest pain, Cerebr... ORPHA:228123
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Congenital Analbuminemia
Fatigue, Low pulse pressure ORPHA:86816
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic re... ORPHA:255210
Vipoma
Hepatomegaly, Chronic fatigue, Elevated circulating growth hormone concentration, Respiratory ins... ORPHA:97282
Sarcoidosis
Fatigue, Hepatomegaly, Abnormal cardiac ventricular function, Portal hypertension, Heart block, D... ORPHA:797
Myopathy, Mitochondrial, And Ataxia
Myalgia, Pallor OMIM:617675
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue ORPHA:98791
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Kikuchi-Fujimoto Disease
Fatigue, Hepatomegaly, Splenomegaly, Myocarditis, Vasculitis, Erythema, Night sweats, Arthralgia,... ORPHA:50918
Glioblastoma
Fatigue ORPHA:360
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue OMIM:613077
Japanese Encephalitis
Respiratory distress, Fatigue, Rigors, Abdominal pain, Respiratory paralysis, Myalgia, Chills, Ab... ORPHA:79139
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration... ORPHA:226307
Houge-Janssens Syndrome 1
Fatigue OMIM:616355
Cystic Echinococcosis
Fatigue, Hepatomegaly, Asthma, Abnormal heart morphology, Epigastric pain ORPHA:400
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Fatigue, Apnea, Respiratory insufficiency OMIM:617239
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Solitary Fibrous Tumor
Fatigue, Low back pain, Night sweats, Hypoinsulinemia ORPHA:2126
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Brucellosis
Fatigue, Hepatomegaly, Pericarditis, Transient ischemic attack, Pneumonia, Abdominal pain, Spleno... ORPHA:1304
Autosomal Dominant Optic Atrophy, Classic Form
Fatigue, Myalgia ORPHA:98673
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Angiostrongyliasis
Fatigue, Abdominal pain, Arthralgia, Myalgia, Neck pain, Pain ORPHA:74
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Addison Disease
Fatigue, Orthostatic hypotension, Decreased circulating cortisol level, Abdominal pain, Increased... ORPHA:85138
Kaposi Sarcoma
Fatigue ORPHA:33276
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension, Redundant neck skin, Palmoplantar cutis laxa OMIM:123790
Oromandibular Dystonia
Respiratory distress, Pain ORPHA:93958
Satoyoshi Syndrome
Fatigue OMIM:600705
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Arthralgia, Respiratory distress OMIM:612852
Steinert Myotonic Dystrophy
Fatigue, Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS c... ORPHA:273
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Klatskin Tumor
Fatigue, Hepatomegaly, Abdominal pain ORPHA:99978
Moebius Syndrome
Respiratory distress OMIM:157900
Primary Sjögren Syndrome
Fatigue, Purpura, Lymphocytic interstitial pneumonia, Raynaud phenomenon, Nonproductive cough, Va... ORPHA:289390
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Abnormal circulating calcium-phosphate regulating hormone concentration ORPHA:50810
Chronic Myeloid Leukemia
Fatigue, Splenomegaly ORPHA:521
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Cyclic Neutropenia
Fatigue, Sinusitis, Bone pain, Abdominal pain ORPHA:2686
Immunodeficiency 97 With Autoinflammation
Fatigue, Splenomegaly, Abdominal pain, Hepatosplenomegaly OMIM:619802
Acute Panmyelosis With Myelofibrosis
Fatigue, Splenomegaly, Low back pain ORPHA:86843
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Enlarged kidney OMIM:608022
Gaucher Disease
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal peri... ORPHA:355
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion OMIM:617300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Hepatomegaly ORPHA:329178
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Increased circulating gonadotropin lev... ORPHA:1772
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Septo-Optic Dysplasia Spectrum
Fatigue, Dry skin ORPHA:3157
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral ... ORPHA:2556
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Fatigue ORPHA:44890
Senior-Loken Syndrome 8
Pallor OMIM:616307
Gamma-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Fatigue ORPHA:100026
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Atypical Juvenile Parkinsonism
Fatigue ORPHA:391411
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Shortened QT interval, Bone pain, Episodic abdominal pain, Elevated circulating parathyr... ORPHA:99880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Elevated circulating parathyroid hormone level OMIM:617994
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress ORPHA:990
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue, Recurrent sinusitis OMIM:618849
Insulin-Resistance Syndrome Type B
Fatigue, Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating leptin co... ORPHA:2298
Primary Sclerosing Cholangitis
Fatigue, Hepatomegaly, Portal hypertension, Spider hemangioma, Abdominal pain, Splenomegaly, Cong... ORPHA:171
African Trypanosomiasis
Fatigue, Hepatomegaly, Pericarditis, Abnormal EKG, Rigors, Urinary incontinence, Myocarditis, Spl... ORPHA:3385
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Patent foramen ovale OMIM:607143
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Parathyroid Carcinoma
Fatigue, Shortened QT interval, Bone pain, Episodic abdominal pain, Elevated circulating parathyr... ORPHA:143
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Hepatomegaly, Exercise intolerance, Splenomegaly, Myalgia ORPHA:79240
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Hypercapnia, Respiratory insufficiency due to muscle weakness, Cor pulmonale, Abnormal h... ORPHA:2020
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Xeroderma Pigmentosum
Conjunctival telangiectasia, Fatigue, Telangiectasia of the skin, Erythema, Telangiectasia, Arthr... ORPHA:910
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h... ORPHA:79282
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Pallor, Atrial septal de... OMIM:105650
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Pachyonychia Congenita
Respiratory distress, Ear pain, Lower limb pain ORPHA:2309
Farber Disease
Respiratory distress, Arthralgia, Respiratory insufficiency, Hepatosplenomegaly ORPHA:333
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress OMIM:300219
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hepatomegaly, Apnea, Hypertrophic cardiomyopathy, Patent foramen ovale ORPHA:17
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Arthralgia, Chronic fatigue, Striae distensae OMIM:619656
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Chronic fatigue, Elevated circulating growth hormone c... ORPHA:97280
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Congestive heart failure OMIM:617156
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Fatigue, Pneumonia, Allergic rhinitis, Asthma, Recurrent pneumonia, Bronchiectasis, Arthralgia, M... ORPHA:183675
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Menkes Disease
Intracranial hemorrhage, Fatigue, Dry skin, Gastrointestinal hemorrhage ORPHA:565
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... ORPHA:79404
Primary Biliary Cholangitis
Fatigue, Orthostatic hypotension, Portal hypertension ORPHA:186
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... ORPHA:2255
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly OMIM:231680
Kufor-Rakeb Syndrome
Fatigue OMIM:606693
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal pain, Hypopnea, Petechiae, Purpura ORPHA:2330
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Chronic fatigue, Elevated circulating growth hormone c... ORPHA:97283
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Mitral valve prolapse, ... ORPHA:536467
Scalp-Ear-Nipple Syndrome
Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachycardia, Dry skin OMIM:181270
Selective Igm Deficiency
Chronic fatigue, Allergic rhinitis, Raynaud phenomenon, Asthma, Recurrent pneumonia, Bronchiectas... ORPHA:331235
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Arthralgia OMIM:183900
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Hip pain, Splenomegaly, Atrioventricular block, Upper airway obstruct... ORPHA:581
Classical Ehlers-Danlos Syndrome
Fatigue, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Limb pain, Mitral regu... ORPHA:287
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Recurre... OMIM:252500
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Fatigue OMIM:619234
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly OMIM:251110
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Stridor, Bradycardia, Decreased c... OMIM:218700
Thyroid Hypoplasia
Fatigue ORPHA:95720
Immunodeficiency 31C
Fatigue, Hepatomegaly, Splenomegaly, Bronchiectasis, Cough OMIM:614162
Marfan Syndrome
Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothorax, Chronic fatigue, Cong... ORPHA:558
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Chest pain, Cough, Pleural effusion ORPHA:1546
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress OMIM:151210
Acute Transverse Myelitis
Back pain, Fatigue, Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hyper... ORPHA:139417
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Apnea, Bradycardia, Cardiomegaly ORPHA:97297
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Decreased circulating ACTH concentration, Fatigue, Hypotension ORPHA:90695
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress OMIM:260400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Adrenomyeloneuropathy
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Impaired continence ORPHA:139399
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Erythema, Pallor OMIM:557000
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Elevated circulating thyroid-... OMIM:256040
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Respiratory failure, Myalgia ORPHA:14
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Cutis laxa, Atrial septal defect, Lef... OMIM:245600
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Lymphatic Filariasis
Fatigue, Wheezing, Restrictive ventilatory defect, Cough, Pain ORPHA:2035
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Respiratory distress OMIM:300968
Tick-Borne Encephalitis
Back pain, Fatigue, Limb pain, Arthralgia, Myalgia, Abnormal myocardium morphology ORPHA:297
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Cardiomegaly, Pericardi... ORPHA:51608
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly OMIM:251100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Rodrigues Blindness
Nasal flaring OMIM:268320
Acromegaly
Fatigue, Elevated circulating growth hormone concentration, Hypertension, Mitral regurgitation, A... ORPHA:963
Somatomammotropinoma
Fatigue, Elevated circulating growth hormone concentration, Hypertension, Mitral regurgitation, A... ORPHA:314769
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Multiple Myeloma
Fatigue, Splenomegaly, Pleural effusion, Bone pain ORPHA:29073
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Tuberous Sclerosis Complex
Respiratory distress, Cardiac rhabdomyoma, Hypertension, Respiratory failure, Internal hemorrhage ORPHA:805
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect OMIM:613309
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion OMIM:620369
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Dry skin, Petechiae OMIM:230000
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Neonatal asphyxia, Dyspnea, Wheezing, Upper airw... ORPHA:141127
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Back pain, Fatigue, Ventricular septal defect, Bicuspid aortic valve, Abdom... OMIM:619475
Achondroplasia
Respiratory distress, Upper airway obstruction OMIM:100800
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... OMIM:619991
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Chronic fatigue, Abnormal heart morphology, Mitral reg... ORPHA:284984
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Enlarged kidney OMIM:618188
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Acral ulceration OMIM:256810
Tetrasomy 9P
Fatigue, Pericarditis, Dextrocardia, Raynaud phenomenon, Abnormal cardiac septum morphology, Abno... ORPHA:3310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... OMIM:618278
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Splenomegaly, Interstitial pneumonitis, Pneumonia ORPHA:37042
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s... OMIM:616268
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Respiratory insufficiency due to muscle weakness, Fatigue, Urinary incontinence ORPHA:466768
Ramos-Arroyo Syndrome
Atrial septal defect, Respiratory distress ORPHA:1051
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Chronic fatigue, Subarachnoi... OMIM:613795
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Periorbital wrinkles, Dry skin OMIM:305100
Diamond-Blackfan Anemia
Atrial septal defect, Ventricular septal defect, Pallor, Abnormal heart morphology ORPHA:124
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea OMIM:618426
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Fatigue, Pneumonia, Vul... ORPHA:95455
Hypermobile Ehlers-Danlos Syndrome
Fatigue, Apnea, Arthralgia, Myalgia, Arrhythmia ORPHA:285
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Airway obstruction, Premature ventricular contraction, Stridor,... OMIM:602535
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Bone pain OMIM:600740
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor OMIM:227645
Hereditary Xanthinuria
Flank pain, Chronic fatigue ORPHA:3467
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Aicardi-Goutières Syndrome
Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Dry skin ORPHA:51
Igg4-Related Kidney Disease
Fatigue, Pericarditis, Abdominal pain, Interstitial pneumonitis, Arteritis, Chronic sinusitis, En... ORPHA:449395
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Complete atrioventr... ORPHA:508488
Adnp Syndrome
Respiratory distress, Aspiration, Urinary incontinence ORPHA:404448
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Abnormal heart morphology, Stridor, T... OMIM:114290
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Hepatomegaly, Pain OMIM:615273
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Decreased circulating ACTH concentration, Fatigue, Hypotension ORPHA:95494
Fanconi Anemia, Complementation Group D2
Anemic pallor, Abnormal heart morphology OMIM:227646
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Familial Pancreatic Carcinoma
Back pain, Abdominal pain, Chronic fatigue, Hepatosplenomegaly ORPHA:1333
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Abdominal pain, Flank pain, Ocular pain, Vitreous hemorrhage, Arthralgia, Myalgia ORPHA:91500
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomy... ORPHA:3472
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema OMIM:224690
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Abdominal pain ORPHA:309031
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Arthralgia, Atrial se... ORPHA:904
Rubinstein-Taybi Syndrome 1
Respiratory distress, Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricula... OMIM:180849
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Fatigue, Arthralgia ORPHA:562639
Malt Lymphoma
Fatigue, Abdominal pain ORPHA:52417
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly ORPHA:96191
Parkinson Disease 20, Early-Onset
Fatigue OMIM:615530
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Abnormal circulating thyroid hormone concentration, Respira... ORPHA:480880
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Atrioventricular canal defect, Respiratory distress OMIM:617088
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Beckwith-Wiedemann Syndrome
Hepatomegaly, Redundant skin, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromeg... ORPHA:116
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain ORPHA:100086
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology ORPHA:798
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Isolated Arrhinia
Respiratory distress ORPHA:1134
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis OMIM:614748
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Alström Syndrome
Respiratory distress, Urinary incontinence, Elevated circulating thyroid-stimulating hormone conc... ORPHA:64
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Perimembranous ventricular septal defect ORPHA:83617
Kufor-Rakeb Syndrome
Fatigue, Urinary incontinence, Bowel incontinence ORPHA:306674
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... OMIM:182250
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Fatigue OMIM:613406
Familial Hypocalciuric Hypercalcemia
Fatigue, Episodic abdominal pain ORPHA:405
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Elevated circulating growth hormone concentr... ORPHA:79318
Doors Syndrome
Respiratory distress, Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue ORPHA:79078
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Secundum atrial septal defect, Subarterial ventricular septal defect, Recur... ORPHA:99646
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404

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 Tph1

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 Tph1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Lactation improves pancreatic β cell mass and function through serotonin production. Science translational medicine (April 2020) Tph1tm1c(KOMP)Wtsi 32350130
Serotonin Regulates Adult β-Cell Mass by Stimulating Perinatal β-Cell Proliferation. Diabetes (December 2019) Tph1tm1c(KOMP)Wtsi 31806625
Generation of a highly efficient and tissue-specific tryptophan hydroxylase 1 knockout mouse model. Scientific Reports (December 2018) Tph1tm1a(KOMP)Wtsi PMC6281741

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tph1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tph1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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