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Gene: Tmod1 MGI:98775

Gene Summary

Name:

tropomodulin 1

Synonyms:

E-Tmod, erythrocyte tropomodulin

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased circulating HDL cholesterol level		Tmod1^{tm1a(KOMP)Wtsi}	HET		Early adult	1.74×10^-05
increased circulating bilirubin level		Tmod1^{tm1a(KOMP)Wtsi}	HET		Early adult	2.53×10^-05

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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.

Legacy Phenotype Associated Images

Tmod1^{tm1a(KOMP)Wtsi}
body, HET, Male, WTSI

Tmod1^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Tmod1^{tm1a(KOMP)Wtsi}
body, HET, Female, WTSI

View all 129 images

Tmod1^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Tmod1 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.

Human diseases associated with Tmod1 (0 diseases)
Human diseases predicted to be associated with Tmod1 (564 diseases)

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

The table below shows human diseases predicted to be associated to Tmod1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro...	ORPHA:295
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio...	OMIM:614702
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, Chylopericardiu...	ORPHA:2414
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia	ORPHA:3319
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi...	OMIM:618775
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri...	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Congenital Enterovirus Infection	Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,...	ORPHA:292
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr...	OMIM:613011
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia	ORPHA:231111
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Diamond-Blackfan Anemia 16	Atrial septal defect, Anemia, Pulmonic stenosis	OMIM:617408
Gaucher Disease Type 1	Pancytopenia, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, Pedal edema, G...	ORPHA:77259
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Nathalie Syndrome	Arrhythmia, Short stature	ORPHA:2663
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Congenital Disorder Of Glycosylation, Type Il	Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Ascites	OMIM:608776
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hepatosplenomeg...	OMIM:619487
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Ascites, Decreased proportion of CD3-positive T cells,...	ORPHA:90362
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele	OMIM:613885
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Short stature, Situs inversus totalis, Thiamine-...	OMIM:249270
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
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
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn...	ORPHA:563
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Gaucher Disease Type 3	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Leukopenia, Ascites, Microangiopathic ...	ORPHA:93552
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Peripheral edema, Reduced hematocrit, Pleural effusion	ORPHA:79126
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Short stature, Megaloblastic anemia, Congestive heart ...	ORPHA:49827
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Small vessel vas...	ORPHA:36412
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Short stature, Camptodactyly	OMIM:618453
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrop...	ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Anemia	OMIM:606069
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Thrombocytopeni...	ORPHA:781
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Steatorrhea	OMIM:235555
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death...	OMIM:310300
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Anemia, S...	ORPHA:464329
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Telangiectasia, At...	ORPHA:101028
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Diffuse Neonatal Hemangiomatosis	Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Viral infection-induced...	ORPHA:57
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculiti...	OMIM:615846
Hemochromatosis, Type 2B	Splenomegaly, Cardiomyopathy, Congestive heart failure, Anemia	OMIM:613313
Hemochromatosis, Type 2A	Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia	OMIM:607765
Formiminoglutamic Aciduria	Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Thrombocytosis, Pleural effusion, A...	ORPHA:2905
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow...	OMIM:615631
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutrope...	OMIM:612527
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An...	OMIM:223350
Partial Atrioventricular Septal Defect	Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio...	ORPHA:1330
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia	OMIM:310095
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata...	OMIM:235510
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement...	ORPHA:57777
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr...	ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Edema, Pericardial effusion, Thrombocytop...	ORPHA:167
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Congenital Rubella Syndrome	Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, Anemia, Atrial ...	ORPHA:290
Combined Oxidative Phosphorylation Deficiency 42	Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth retardation, Anemia	OMIM:618839
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c...	ORPHA:1194
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio...	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 40	Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomy...	OMIM:618835
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co...	ORPHA:275766
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia, Cardiomegaly	OMIM:618838
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, P...	ORPHA:228410
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Congenital Disorder Of Glycosylation, Type Ih	Edema, Patent ductus arteriosus, Anemia, Perimembranous ventricular septal defect, Camptodactyly,...	OMIM:608104
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Hemochromatosis, Type 3	Cardiomyopathy, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop...	ORPHA:99827
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, ...	ORPHA:3405
Dystonia 23	Torticollis, Arrhythmia	OMIM:614860
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Delayed puberty,...	ORPHA:358
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia, Anemia	ORPHA:27
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Kearns-Sayre Syndrome	Sideroblastic anemia, Short stature, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrio...	OMIM:530000
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe...	ORPHA:846
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb...	ORPHA:848
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri...	ORPHA:422
Focal Segmental Glomerulosclerosis 1	Edema, Hypertension, Pleural effusion, Ascites, Anemia	OMIM:603278
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Symmetrical Thalamic Calcifications	Arrhythmia, Polyhydramnios	ORPHA:1314
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Howell-Jolly bodies, Abnormal cardiac ventricle morpho...	ORPHA:85443
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt...	ORPHA:54057
Dk1-Cdg	Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter...	ORPHA:91131
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Hypertrophic cardiomy...	ORPHA:330001
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	OMIM:606003
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Hemochromatosis, Type 1	Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia,...	OMIM:235200
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia	OMIM:616516
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Facial palsy, Thrombocytopenia, Anemia	OMIM:616435
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:3222
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Hypotension, Arrhythmia, Pleural effusion, ...	ORPHA:188
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Bacterial en...	ORPHA:97214
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc...	OMIM:618156
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Spl...	ORPHA:2136
Alg9-Cdg	Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypoplasia of the mu...	ORPHA:79328
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, General...	OMIM:139210
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc...	OMIM:224120
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Spl...	ORPHA:3202
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Mor...	OMIM:613309
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormalit...	ORPHA:565612
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Spina bi...	ORPHA:230839
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Steatorrhea	OMIM:613812
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Cardiomyopathy, Ar...	ORPHA:3386
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Hec Syndrome	Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis	ORPHA:2119
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia	ORPHA:99944
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Umbilical hernia, Mitral valve prolapse	ORPHA:536532
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Short stature, Facial palsy	ORPHA:772
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy...	ORPHA:14
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Short stature, Abnormal p...	ORPHA:500
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectasia, Iron d...	ORPHA:2038
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ...	ORPHA:3099
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,...	OMIM:230800
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Congestive heart failure, Leukocytosis, Pleural empyema, Constri...	ORPHA:67
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy, Anemia	OMIM:608068
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Noonan Syndrome 5	Short stature, Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:611553
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia, Neutropenia	OMIM:616949
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia, Short stature, Camptodactyly of finger	ORPHA:2928
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short stature, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of t...	OMIM:617877
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Fabry Disease	Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori...	ORPHA:324
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Short stature, Arrhythmia	ORPHA:254913
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Growth delay, Hypertension, Intrauterine growth retardation, Arrhythmia, Neonatal death, Umbilica...	OMIM:614052
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites, Anemia	ORPHA:139411
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Iron deficiency anemia,...	ORPHA:100078
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Immunodeficiency 22	Pericarditis, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cells, Ascite...	OMIM:615758
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po...	ORPHA:51608
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Short stature, Subvalvular aortic stenosis	OMIM:600430
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa...	ORPHA:746
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh...	OMIM:609015
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure,...	ORPHA:465508
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Singleton-Merten Syndrome 2	Aortic valve calcification, Aortic valve stenosis, Short stature, Arrhythmia	OMIM:616298
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Hypotension, Arrhythmia, Lymphopenia	ORPHA:549
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Lathosterolosis	Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H...	OMIM:607330
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Type 2 muscle fiber predominance, Growth delay, Arrhythmia, Neutropenia,...	OMIM:615471
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Macular edema, Upper limb muscle weakness, Cardiomyopathy, Ab...	ORPHA:892
Agel Amyloidosis	Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal spleen morphology, Ar...	ORPHA:85448
Colchicine Poisoning	Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardi...	ORPHA:31824
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Ogden Syndrome	Torticollis, Ventricular septal defect, Postnatal growth retardation, Cardiogenic shock, Arrhythmia	ORPHA:276432
Pagod Syndrome	Encephalocele, Short stature, Sudden cardiac death, Congenital diaphragmatic hernia, Situs invers...	ORPHA:991
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea...	ORPHA:26791
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc...	ORPHA:79329
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia, Cardiomegaly	OMIM:255120
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Dilated cardiomyopathy, Rag...	ORPHA:254892
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul...	OMIM:614866
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Growth delay, Arrhythmia, Cardiac arrest	ORPHA:168593
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Pericarditis, Myositis, Palpebral edema, Gastrointestinal hemorr...	ORPHA:93672
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:96180
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy...	OMIM:300855
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia, Short stature	ORPHA:2238
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia, Steatorrhea	OMIM:613471
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, ...	OMIM:619184
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia, Steatorrhea	OMIM:557000
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Recurrent intrapulmonary hemorrhage, Epistaxis,...	ORPHA:906
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration	ORPHA:53035
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Xanthelasma	ORPHA:30391
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism	ORPHA:624
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Short stature, Camptodactyly of finger	ORPHA:3201
Scorpion Envenomation	Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Myocarditis, Congestive ...	ORPHA:466677
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Arrhyt...	ORPHA:99845
Neuroleptic Malignant Syndrome	Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Rhabdomyolysis, Dehydration, ...	ORPHA:94093
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia, Double ...	ORPHA:397
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Leukocytosis, Vasculitis, Cong...	ORPHA:2331
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy	OMIM:610131
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Edema, Myocardial infar...	ORPHA:221
Generalized Pseudohypoaldosteronism Type 1	Proportionate short stature, Hypovolemic shock, Arrhythmia, Dehydration	ORPHA:171876
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Predominantly lower limb lymphedema, Arrhythmia	ORPHA:33001
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh...	ORPHA:217085
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Splenomegaly...	ORPHA:580
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Lyme Disease	Joint swelling, Arrhythmia, Atrioventricular block	ORPHA:91546
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh...	ORPHA:217093
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Junc...	OMIM:309801
Phakomatosis Pigmentokeratotica	Spina bifida, Rhabdomyosarcoma, Raynaud phenomenon, Lymphedema, Arrhythmia	ORPHA:2874
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Short stature, Camptodactyly of finger, Intrauterine growth retardation,...	ORPHA:261211
Degcags Syndrome	Hyperbilirubinemia	OMIM:619488
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Ivic Syndrome	Leukocytosis, Severe short stature, Arrhythmia, Thrombocytopenia	ORPHA:2307
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Short stature, Hypotension, Mastocytosis, Ar...	ORPHA:2135
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy	ORPHA:157
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Decreased circulating cortisol level	OMIM:620305
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Macroglossia, Arrhythmia, Tetral...	ORPHA:261494
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A...	ORPHA:93317
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Facial palsy, Arrhythmia, Increased red blood cell count, Cerebral edema	ORPHA:68
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Aplasia of the pectoralis majo...	ORPHA:3138
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Pedal edema, Arrhythmia, Ascites	ORPHA:342
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, A...	ORPHA:2131
Leber Optic Atrophy	Myopathy, Arrhythmia	OMIM:535000
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Leptospirosis	Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc...	ORPHA:509
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Microcytic anemia, Cardiomegaly,...	OMIM:256040
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities	ORPHA:480864
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Noonan Syndrome	Short stature, Abnormal pulmonary valve morphology, Lymphedema, Abnormality of the spleen, Aplasi...	ORPHA:648
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolapse, Mitral regurgitation, Anemia	OMIM:175050
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int...	ORPHA:79318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia	ORPHA:60040
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh...	ORPHA:1519
Oculodentodigital Dysplasia	Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Arrhythmia	ORPHA:90289
Dubowitz Syndrome	Hypocholesterolemia	OMIM:223370
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Short stature, Shoulder flexion contracture, Polyhydram...	ORPHA:800
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Botulism	Arrhythmia, Xerostomia	ORPHA:1267
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia, Short stature, Camptodactyly of finger	ORPHA:3220
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Foodborne Botulism	Arrhythmia, Xerostomia	ORPHA:228371
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Severe short stature, Congenital diaphragmatic hernia, Dilated cardiomyo...	ORPHA:2556
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Sarcoidosis	Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Facial palsy, Portal hyper...	ORPHA:797
Costello Syndrome	Ventricular septal defect, Short stature, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contr...	OMIM:218040
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia, Short stature	OMIM:171480
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia	OMIM:270400
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po...	OMIM:312870
African Trypanosomiasis	Abnormal EKG, Pericarditis, Splenomegaly, Myocarditis, Congestive heart failure, Myelopathy, Hepa...	ORPHA:3385
Oculodentodigital Dysplasia	Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger	OMIM:164200
Cockayne Syndrome A	Hip contracture, Short stature, Splenomegaly, Hypertension, Severe postnatal growth retardation, ...	OMIM:216400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia	OMIM:250220
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Plague	Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia	ORPHA:707
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Splenomegaly, Hypertension, Intrauterine grow...	OMIM:133540
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Splenomegaly, Arrhythmia, Arthrogryposis multiplex congenita	ORPHA:163746
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Mitral valve prolapse, Macroglossia, Arrhythmia	ORPHA:828
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Delayed puberty	OMIM:181450
Hypermobile Ehlers-Danlos Syndrome	Umbilical hernia, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture	ORPHA:285

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 Tmod1

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 Tmod1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tmod1^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tmod1^{tm1a(KOMP)Wtsi}	PMC6459510

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MGI Allele	Allele Type	Produced
Tmod1^{tm36060(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmod1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tmod1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Tmod1^{tm36060(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmod1^{tm257860(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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