Not currently registered for phenotyping at IMPC

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

Gene Summary

prostaglandin E receptor 4 (subtype EP4)
EP4,  Ptgerep4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Ptger4 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 Ptger4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... ORPHA:79099
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Oligoarthritis, Knee osteoarthritis, Joint hypermo... ORPHA:85410
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Mediastinal lymphadenopathy, Pericardial effusion, Pulmonar... ORPHA:199241
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrial fibrillation, Mitral regurgitation, Tr... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ascites, Atrioventricul... OMIM:115197
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro... OMIM:180300
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash, Elevated ... ORPHA:85414
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Hepatitis, Systemic lupus erythematosus, Incre... ORPHA:158061
Cirrhotic Cardiomyopathy
Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Pro... ORPHA:57777
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral cand... ORPHA:275
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Vasculitis,... ORPHA:70578
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Rhinorrhea, Cough, Pancreatitis, Arrhythmia, Pulmonary edema, Cardiore... ORPHA:188
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Pulmo... OMIM:617300
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Elevated hepatic transaminase, Tachypnea, Tachycardia, Hear... ORPHA:542323
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Overlap Myositis
Autoimmunity, Elevated circulating creatine kinase concentration, Abnormal circulating lipid conc... ORPHA:206572
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Ascites, Edema, Patent ductus arteriosus, Gastrointestin... ORPHA:90308
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa... ORPHA:331235
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Stillbirth OMIM:265880
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... OMIM:600884
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythemat... ORPHA:99867
Marfan Syndrome
Dilatation of an abdominal artery, Arthralgia/arthritis, Ascending tubular aorta aneurysm, Pulmon... ORPHA:558
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Enl... ORPHA:64739
Immunodeficiency 61
Agammaglobulinemia, Recurrent sinusitis, Arthritis, Recurrent otitis media OMIM:300310
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Sandhoff Disease
Cherry red spot of the macula, Splenomegaly, Ataxia, Congestive heart failure, Recurrent respirat... ORPHA:796
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen... ORPHA:85435
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Pallor, Lethargy ORPHA:79283
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:254351
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... ORPHA:49827
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Limited knee e... OMIM:600969
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia, Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Deep dermal perivascular in... ORPHA:49041
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227990
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho... ORPHA:563991
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension... OMIM:234810
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Pulmonary artery aneurysm, Pulmonary artery dilatation, Cutis laxa, Arte... OMIM:614437
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227982
Myasthenia Gravis
Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythematosus, Hepatiti... ORPHA:589
Marfan Syndrome
Bicuspid aortic valve, Aortic dissection, Pulmonary artery dilatation, Mitral valve prolapse, Asc... OMIM:154700
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Cardiomegaly, Cardiomyopathy, Bradycardia, Pulmonary edema, Congestive heart failure, Sh... OMIM:261740
Coronary Arterial Fistula
Coronary artery aneurysm, Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Cocaine Intoxication
Wheezing, Ventricular arrhythmia, Pulmonary edema, Diffuse alveolar hemorrhage, Hyperventilation,... ORPHA:90068
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... ORPHA:99050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Respiratory insufficiency, Patent ductus arteriosus, Decreased liver function, Olig... OMIM:617021
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Gamma-Heavy Chain Disease
Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid arthritis, Autoimmune hemolytic anemia, Ski... ORPHA:100026
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Glycoprotein Storage Disease
Gout OMIM:232900
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Patent ductus arteriosus ORPHA:1321
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Bicuspid pulmona... OMIM:610168
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Bicuspid aortic valve, Descending thoracic aorta aneurysm, Mitral valv... OMIM:609192
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... ORPHA:331206
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Arthritis, Splenomegaly, Congestive heart failure, Arrhyt... OMIM:602390
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Generalized edema, Pulmonary edema, Elevated hep... ORPHA:244242
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Partial Atrioventricular Septal Defect
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Drowsiness, Palpitations, Tachycardia, Loss of consciousnes... ORPHA:276556
Hepatomegaly, Edema, Apnea, Cardiomegaly, Polyhydramnios, Left ventricular hypertrophy, Respirato... ORPHA:79330
Morbid Obesity And Spermatogenic Failure
Hypertension, Premature coronary artery atherosclerosis, Myocardial infarction, Hepatic steatosis... OMIM:615703
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... OMIM:265450
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic steat... OMIM:618234
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding ORPHA:3325
Adams-Oliver Syndrome 4
Patent ductus arteriosus OMIM:615297
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Patent ductus arteriosus OMIM:211930
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Systemic lupus erythematosus, Recurrent otitis media, Joint swelling, Au... OMIM:607944
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin, Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Autoimmunity, Pneumonia, Hepatitis, Systemic lupus erythematosus, Arthritis, Autoimmune thrombocy... ORPHA:1855
Hemorrhagic Fever-Renal Syndrome
Petechiae, Melena, Pulmonary edema, Respiratory failure, Capillary leak, Ecchymosis, Hypertension... ORPHA:340
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased... OMIM:607271
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypert... ORPHA:2414
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Drowsiness, Palpitations, Tachycardia, Loss of consciousnes... ORPHA:276575
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Edema, Recurrent lower respiratory tract infections, Patent ductus arteriosus, Oligohydramnios, H... OMIM:616000
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary he... ORPHA:2038
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Total anomalous pulmonary veno... OMIM:613854
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Apnea, Bradycardia, Left ventricular hypertrophy, Hepatic steatosis, Elevated circu... OMIM:619048
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Impaired T c... OMIM:607594
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Drowsiness, Palpitations, Tachycardia, Loss of consciousnes... ORPHA:276580
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... OMIM:612474
Simple Cryoglobulinemia
Raynaud phenomenon, Gastrointestinal hemorrhage, Vasculitis, Abnormal lung morphology, Hypertensi... ORPHA:91139
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Pancreatitis, Hepatic steatosis, Coronary artery atherosclerosis ORPHA:79084
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Autoimmunity, Eczema, Bronchiectasis, Autoimmune antibody positivity,... ORPHA:79128
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Hypoxemia, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... OMIM:612387
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Lack... ORPHA:277
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Patent ductus arteriosus, Pulmonic stenosis, Chole... OMIM:615382
Familial Aortic Dissection
Aortic dissection, Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Mucoid extracellular m... ORPHA:229
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Patent ductus arteriosus, Lethargy OMIM:610498
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Histiocytoid Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, Su... ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatic steatosis OMIM:615595
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Hepatic steatosis OMIM:610717
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... ORPHA:2619
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Infectious encephalitis, Epistaxis, Splenomegaly, Ataxia, Gastrointestinal hemorrhage, Abnormal p... ORPHA:99745
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Episodic respiratory distress, Abnormal pattern of re... ORPHA:31826
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Drowsiness, Pallor ORPHA:71518
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Respiratory insufficiency, Petechiae, Ascites, Bradycardia, Pa... OMIM:617397
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Death in infancy, Anomalous origin of left coronary artery from th... OMIM:618845
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis, Transient hyperphenylalaninemia ORPHA:98808
Abnormal coronary artery morphology, Raynaud phenomenon, Coma, Paraproteinemia, Transient ischemi... ORPHA:167635
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Recurrent bronchitis, Recurrent ... OMIM:300853
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... ORPHA:507
Leukopenia, Splenomegaly, Myocardial infarction, Coma, Congestive heart failure, Limitation of jo... ORPHA:108
Fibromuscular Dysplasia, Multifocal
Dilatation of celiac artery, Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebr... OMIM:619329
Rheumatic Fever
Myocarditis, Gait disturbance, Sinusitis, Pericarditis, Abnormal mitral valve morphology, Abnorma... ORPHA:3099
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Patent ductus arteriosus OMIM:619519
Mueller-Weiss Syndrome
Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri... ORPHA:566943
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Early Myoclonic Encephalopathy
Recurrent respiratory infections, Lethargy ORPHA:1935
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, Purulent rhinitis, Conjunctivitis OMIM:601457
Viss Syndrome
Eczema, Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Tortu... OMIM:619472
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Colitis, Acne, Arthritis, Knee flexion contracture, Elevated circ... OMIM:604416
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hyperte... ORPHA:422
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Tachycardia, Coma, Pallor, Lethargy ORPHA:276608
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Drowsiness, Palpitations, Tachycardia, Loss of consciousness, Pallor, Hypoglycemic coma,... ORPHA:324575
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Skin rash, Lethargy ORPHA:26
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Ataxia, Bradykinesia, Lethargy OMIM:618683
Cyclic Vomiting Syndrome
Cardiomyopathy, Ataxia, Attention deficit hyperactivity disorder, Pallor, Lethargy OMIM:500007
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Cough, Hepatic steatosis, Hepatosplenomegaly, Oligohydramnios, Abn... OMIM:619013
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Left ventricular hypertrophy, Inability to walk, Congestive heart failure... ORPHA:206546
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Common atrium, Recur... OMIM:619534
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... OMIM:105835
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis OMIM:613877
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Difficulty walking, Lethargy OMIM:613710
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Evans Syndrome
Syncope, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune t... ORPHA:1959
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Neutropenia, Endocardial f... OMIM:302060
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Prominent superficial veins, Thrombocytopen... ORPHA:141179
Timothy Syndrome
Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent ductus arteriosus, Tetralogy ... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency, Patent ductus arteriosus OMIM:616276
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Cutis laxa, Mitral regurgitation, Aortic regurgitat... OMIM:314400
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic dissection, Mitral regurgitation, Joint hypermobility, Flexion ... OMIM:300989
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join... ORPHA:564003
Spontaneous Periodic Hypothermia
Gait disturbance, Ataxia, Skin rash, Reduced consciousness/confusion, Pallor, Arrhythmia ORPHA:29822
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Facial erythema, Dry ski... OMIM:603165
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus OMIM:300049
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Vasculitis, Pulmonary embolism, Arter... ORPHA:228116
Retinitis Pigmentosa 42
Pallor OMIM:612943
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Pulmonary edema, Congestive ... ORPHA:73224
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Idiopathic Pulmonary Arterial Hypertension
Syncope, Abnormal jugular vein morphology, Right ventricular hypertrophy, Palpitations, Pulmonary... ORPHA:275766
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Arterial Calcification, Generalized, Of Infancy, 1
Ankylosis, Hypertension, Generalized arterial calcification, Coronary artery calcification, Myoca... OMIM:208000
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased liver function, Hepatic steat... OMIM:614300
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Excessive daytime somnolen... OMIM:212140
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Lethargy OMIM:201470
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Epistaxis, Abnormality of n... ORPHA:33226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proli... OMIM:617241
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Hepatic steatosis ORPHA:26792
Ogden Syndrome
Ventricular septal defect, Cutis laxa, Torticollis, Shuffling gait, Excessive daytime somnolence,... ORPHA:276432
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis ORPHA:2123
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Arrhythmia OMIM:606069
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Abnormal erythrocyte morphology, Confusion, Lethargy ORPHA:71277
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Prominent superficial veins, Thrombocytopen... ORPHA:141184
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... ORPHA:1329
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Splenomegaly, Impaired T cell function OMIM:201100
Hereditary Folate Malabsorption
Eosinophilia, Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Pancytopenia... ORPHA:90045
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Pericarditis, Abnormal mit... ORPHA:732
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Thrombocytopenia, Acute leukemia, Chronic otitis media, Bo... ORPHA:3226
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... ORPHA:363705
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Transaldolase Deficiency
Telangiectasia, Hepatomegaly, Hepatic fibrosis, Coarctation of aorta, Micronodular cirrhosis, Pat... OMIM:606003
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Breath-Holding Spells
Iron deficiency anemia, Pallor, Loss of consciousness OMIM:607578
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Staphylococcal Necrotizing Pneumonia
Shock, Confusion, Leukocytosis, Pneumonia, Leukopenia, Pneumothorax, Pleural empyema, Neutrophili... ORPHA:36238
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Increased susceptibility to fractu... ORPHA:79094
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... OMIM:240500
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus arter... ORPHA:91387
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Vascular dilatatio... ORPHA:615
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Ataxia, Congestive heart failure, Arrhythmia ORPHA:225
Congenital Atransferrinemia
Arthritis ORPHA:1195
Developmental And Epileptic Encephalopathy 41
Inability to walk, Flexion contracture, Lethargy OMIM:617105
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Neph... OMIM:617303
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Gait disturbance, Sinusitis, Tubulointers... ORPHA:183
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, L... ORPHA:401935
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Patent ductus arter... OMIM:613623
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Polyhydramnios, Patent ductus arteriosus, Respiratory failure, Pul... OMIM:616867
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Retinitis Pigmentosa 81
Pallor OMIM:617871
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dystonia, Ataxia, Lethargy OMIM:246900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Splenomegaly, Coma, Thrombocytopenia... ORPHA:79312
Non-Specific Syndromic Intellectual Disability
Pulmonary artery dilatation, Aortic root aneurysm, Impaired tandem gait, Joint hypermobility, Att... ORPHA:528084
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Patent ductus arteriosus, R... ORPHA:1842
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Confusion, Lethargy OMIM:617900
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Congestive heart failure, Limitation of joint mobility, Flexion contracture, Ar... ORPHA:157973
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alani... OMIM:618805
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Polyhydramnios, Pulmonic stenosis, Splenomegaly, P... OMIM:608149
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Congenital Tracheomalacia
Single ventricle, Patent ductus arteriosus, Double aortic arch, Emphysema, Ventricular septal def... ORPHA:95430
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Ventricular septal def... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Optic Atrophy 9
Pallor OMIM:616289
Arterial Calcification, Generalized, Of Infancy, 2
Hypertension, Coronary artery calcification, Myocardial infarction, Congestive heart failure, Hyp... OMIM:614473
Optic Atrophy 1
Ataxia, Pallor OMIM:165500
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... ORPHA:101150
Isovaleric Acidemia
Leukopenia, Cerebellar hemorrhage, Bone marrow hypocellularity, Coma, Pancytopenia, Thrombocytope... OMIM:243500
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Congenital Rubella Syndrome
Hepatomegaly, Patent ductus arteriosus, Splenomegaly, Abnormality of the pulmonary artery, Jaundice ORPHA:290
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:613355
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Ataxia, Hypertrophic cardiomyopathy, Lethargy OMIM:614299
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Uveitis, Attention def... OMIM:617044
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Biliary tract neoplasm, Pleuritis, Pul... ORPHA:662
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Severe Canavan Disease
Joint stiffness, Inability to walk, Lethargy ORPHA:314911
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Ascites, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepa... OMIM:617156
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Confusion, Lethargy OMIM:613002
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Respiratory insufficiency, Mitral regurgitation, Hypoplasia of the thymus, Pulmonar... OMIM:612541
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Pancreatitis, Ataxia, Coma, Thrombocytopen... ORPHA:27
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Abnormal systemic arterial morphology, Cutis laxa, Periphe... ORPHA:90349
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Peripheral Cone Dystrophy
Pallor OMIM:609021
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Rheumatoid arthritis, Iritis OMIM:108050
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Antinuclear... OMIM:616414
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Patent... ORPHA:97214
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Osteoporosis ORPHA:2786
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Right a... OMIM:601186
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Palpitations, Pulmonary sequestration, Mitral stenosis,... ORPHA:2847
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Eczema, Palmoplantar cutis laxa, Mitral r... OMIM:615355
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:619386
Hypertrophic cardiomyopathy, Hepatitis, Abnormal hemoglobin, Anemia, Splenomegaly, Reduced bone m... ORPHA:848
Hemochromatosis Type 2
Dilated cardiomyopathy, Osteoporosis, Lethargy ORPHA:79230
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Wolff-Parkinson-White syndr... OMIM:540000
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Reticular pattern on pulmonary HRCT, Pu... ORPHA:99931
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Bone-marrow foam cells, Splenomeg... OMIM:278000
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... ORPHA:1416
Vici Syndrome
Dilated cardiomyopathy, Cutaneous anergy, Decreased circulating IgG level, Cardiomyopathy, Chroni... OMIM:242840
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension, Lethargy OMIM:605711
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Lethargy OMIM:312170
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Membranous nephropathy, Reduced natural killer cell activity, Anticardiolipin IgG a... OMIM:615559
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Coarctation of aorta, Pulmonary arterial hypertension, Anemia, Atrial septal defect,... OMIM:614857
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Joint swelling, Cirrhosis ORPHA:139491
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... OMIM:618782
Interstitial Lung And Liver Disease
Hepatomegaly, Hypoxemia, Respiratory insufficiency, Hepatic fibrosis, Cough, Cirrhosis, Hepatic s... OMIM:615486
Primary Lipodystrophy
Hypertension, Type IV atherosclerotic lesion, Cardiomyopathy, Pancreatitis, Splenomegaly, Cirrhos... ORPHA:90970
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture, Coma, Loss of consciousness, Lethargy OMIM:307030
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neutropil antibo... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Dry skin, Inflammation of the large intestine, Impaired T cell functio... OMIM:614576
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Hepatomegaly, Patent ductus arteriosus, Splenomegaly, Respiratory distress, Eleva... OMIM:608799
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Reduced bone mineral density, Venous insufficiency, Congestive heart fai... ORPHA:137608
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor ORPHA:163596
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Central sleep apnea, Decreased liver functi... ORPHA:70472
Char Syndrome
Patent ductus arteriosus OMIM:169100
Vascular Ehlers-Danlos Syndrome
Periodontitis, Dermal translucency, Transient ischemic attack, Varicose veins, Vascular dilatatio... ORPHA:286
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Nonprogressive cereb... OMIM:610198
Cednik Syndrome
Ataxia, Congestive heart failure ORPHA:66631
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Neutropenia, Anemia, Pancreatitis, Coma, Thrombocytopenia, Lethargy ORPHA:289916
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Loss of ability to walk, Difficul... ORPHA:98909
Meningococcal Meningitis
Shock, Stiff neck, Drowsiness, Infectious encephalitis, Petechiae, Purpura, Skin rash, Reduced co... ORPHA:33475
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Lethargy OMIM:215600
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:614582
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Schimke Immuno-Osseous Dysplasia
Hypertension, Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonep... ORPHA:1830
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... ORPHA:90065
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Melena, Increased circulating antibody level, Gastrointestinal hemorrhage,... ORPHA:319218
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Respiratory arrest, Ventricular tachycardia, Cardiomegaly, ... OMIM:600649
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Petechiae, Neut... OMIM:603909
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Abnormal aortic v... ORPHA:1120
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Difficulty walking, Congestive heart failure ORPHA:324588
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, First degree atrioventricular block, Atrio... ORPHA:392
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory arrest, Hepatocellular necrosis, Reduced e... OMIM:201475
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor OMIM:615234
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Arthritis, Serositis, Skin rash, Glomer... ORPHA:567544
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hepatosplenomegaly, Recurrent respiratory infections, Conjunctivitis, H... ORPHA:505248
Dopa-Responsive Dystonia
Dystonia, Gait disturbance, Arm dystonia, Inability to walk, Generalized dystonia, Oculogyric cri... ORPHA:255
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect... ORPHA:60025
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Pallor, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolyti... OMIM:611590
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j... ORPHA:231
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Patent ductus arteriosus, Decreased liver function, Oligohydramnios, Chole... OMIM:608104
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Premature coronary artery atherosclerosis, Precocious atherosclerosis, Generaliz... OMIM:176670
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory paralysis, Respiratory distress, Pulmonary edema, Ce... ORPHA:79139
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Skin ulcer, Epistaxis, Erythema, Arthritis, P... ORPHA:727
Gm1 Gangliosidosis
Dystonia, Ventricular septal defect, Gait disturbance, Infectious encephalitis, Cherry red spot o... ORPHA:354
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Cerebral ischemia, Ataxia, Coma, Loss of consciousness, Delirium, Confusion, Lethargy ORPHA:927
Chromosome 18Q Deletion Syndrome
Atopic dermatitis, Ventricular septal defect, Ascending tubular aorta aneurysm, Dysplastic aortic... OMIM:601808
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Patent ductus arteriosus, Elevated pulmonary artery pressure, Oligohydramnios, Thora... OMIM:619351
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Increased hepatic glycogen content, Prolonged prothrombin t... OMIM:614921
Wild Type Abeta2M Amyloidosis
Bone cyst, Arthritis, Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... ORPHA:1880
Cardiogenic Shock
Right ventricular failure, Confusion, Mitral regurgitation, Low pulse pressure, Elevated jugular ... ORPHA:97292
Propionic Acidemia
Dystonia, Eczema, Neutropenia, Cerebellar hemorrhage, Osteoporosis, Anemia, Cardiomyopathy, Pancr... OMIM:606054
Leber Congenital Amaurosis 14
Pallor, Falls OMIM:613341
Thanatophoric Dysplasia
Respiratory insufficiency, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucenc... ORPHA:2655
Distal Monosomy 17Q
Hepatomegaly, Respiratory insufficiency, Patent ductus arteriosus ORPHA:1597
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Atrial fibrillation, Mitral regurgitation, Left atrial enlargement OMIM:617047
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentration, Conjunctivitis OMIM:120100
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ... ORPHA:93308
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Familial Cold Autoinflammatory Syndrome 2
Arthritis, Skin rash, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein conc... OMIM:611762
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Ventricu... ORPHA:363618
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to... ORPHA:98849
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Panniculitis, B... ORPHA:508542
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Lethargy ORPHA:163703
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout, Hyperuricemia OMIM:162000
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Congestive heart failure OMIM:606703
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Tetralogy of Fallot, Patent ductus arteriosus OMIM:239711
Mulibrey Nanism
Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Recurrent lower respirato... OMIM:253250
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Palpitations, Raynaud phenomenon, Abnormal pulmonary interstitial morpholo... ORPHA:206569
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Tricuspi... OMIM:616501
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Ventricular septal defect, Atrial septal defect, Patent... OMIM:618974
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertension, Cirrhosis, Hepatic steatosis, Respiratory failure ORPHA:363400
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Coma, Loss of consciousness, Sudden cardiac death, Arrhythmia, Lethargy ORPHA:156
Dengue Fever
Cerebral hemorrhage, Leukopenia, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Skin rash, Th... ORPHA:99828
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Osteopenia, Congestive heart failure OMIM:269920
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... OMIM:265120
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Eczema, Raynaud phenomenon, Splenomegaly, Hepatosplenomegaly... ORPHA:3260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Gait imbalance, Lethargy OMIM:618120
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Pa... OMIM:267010
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Abnormal serum interfero... ORPHA:391487
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Lethargy OMIM:618225
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Impaired T cell function, Unilateral primary ... OMIM:192430
Rare Circulatory System Disease
Abnormal systemic arterial morphology, Abnormal vascular morphology, Arterial tortuosity, Arteria... ORPHA:98028
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Leukopenia, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis, Co... OMIM:251000
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Pallor, Hemolytic anemia, Arrhythmia, Abnormal leukocyte ... ORPHA:98375
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Polyhydramnios, Patent ductus arterio... ORPHA:93274
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Accelerated atherosclerosis, Retinal hemorrhage, Renovascula... OMIM:264800
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Cardiomyopathy, Splenomegaly, Congestive heart failure, Ski... ORPHA:3386
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Impaired T cell function, Neutropenia in presence of anti-neutropil antibod... OMIM:613179
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Gait disturbance, Hypertrophic cardiomyopathy, Ataxia, Cong... ORPHA:1349
Hemochromatosis, Type 2B
Congestive heart failure, Anemia, Cardiomyopathy, Splenomegaly OMIM:613313
Primary Lateral Sclerosis, Juvenile
Spastic gait, Pallor OMIM:606353
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase, Arrhythmia OMIM:255120
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Arthritis, Pulmonary arterial hypertension, Cong... ORPHA:220393
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm, Joint hypermobility, Abnormal he... ORPHA:98892
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocarditis, Hypertension, Aortic dissection... ORPHA:3342
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Cardiomegaly, Tricuspid regurgitation, Patent duc... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Pulmonary arterial hypertension, Cardiomegaly, Lethargy OMIM:619064
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600