Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prostaglandin E receptor 1 (subtype EP1)
Synonyms:
Ptgerep1,  42kDa,  EP1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptger1 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 Ptger1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... ORPHA:976
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
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
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
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
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal b... ORPHA:31824
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Dicarboxylic aciduria, Elevated circulatin... ORPHA:159
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Kerion Celsi
Fever, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ski... ORPHA:499
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Dysphagia, P... ORPHA:220393
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever, Lymphadenopathy ORPHA:319600
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis ORPHA:1054
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges... ORPHA:727
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Recurrent infections, Lymphadenopathy, Decreased circulating antibody level, ... OMIM:618261
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Coproporphyria, Hereditary
Hypertension, Tachycardia, Jaundice OMIM:121300
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Pancytopenia, Decreased circul... OMIM:619924
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... ORPHA:319213
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Mantle Cell Lymphoma
Fever, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale... ORPHA:251274
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenom... OMIM:613101
Variegate Porphyria
Tachycardia OMIM:176200
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, O... ORPHA:90051
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity ORPHA:99976
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... OMIM:605258
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... ORPHA:731
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, A... ORPHA:911
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... ORPHA:31826
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Glome... ORPHA:2260
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypokalemia, Increased circul... OMIM:612780
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... ORPHA:544482
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... ORPHA:223
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Polydipsia, Decr... ORPHA:231580
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... ORPHA:173
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... OMIM:240500
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, Recurr... OMIM:603552
Hypercalcemia, Infantile, 2
Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Mu-Heavy Chain Disease
Fever, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level... ORPHA:100024
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia ORPHA:403
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Lymphadenopathy, Arthritis, Conjunctivitis, Periodic fever OMIM:617772
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H... ORPHA:466650
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, P... OMIM:212138
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Immunodeficiency 32A
Fever, Lymphadenitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior, Chronic ki... ORPHA:84081
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect... OMIM:608106
Gitelman Syndrome
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricul... OMIM:263800
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Polyphagia, Attention deficit hy... ORPHA:369873
Immunodeficiency 27A
Fever, Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteri... OMIM:209950
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... ORPHA:98764
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Lymphoproliferative Syndrome 2
Fever, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Uveitis, Lymphad... OMIM:615122
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Nocturia, Anorexia ORPHA:178029
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Dilated... OMIM:600649
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto... ORPHA:100083
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Proteasome-Associated Autoinflammatory Syndrome 2
Fever, Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral... OMIM:618048
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... ORPHA:567548
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform der... OMIM:606367
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Recurrent fever OMIM:618852
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Rosaï-Dorfman Disease
Fever, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Tularemia
Fever, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid mor... ORPHA:3392
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... ORPHA:2686
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... OMIM:614470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Re... ORPHA:98813
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Decreased circul... ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Recurrent i... OMIM:301078
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Papa Syndrome
Fever, Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Incr... ORPHA:69126
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Fever, Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lym... OMIM:618935
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... OMIM:619375
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... ORPHA:331235
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... OMIM:616100
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Alpha-Heavy Chain Disease
Fever, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Stiff-Person Syndrome
Hypertension, Exaggerated startle response, Tachycardia OMIM:184850
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Sepsis, T lymphocytopenia, Leukopenia, Neutropenia, D... OMIM:618986
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Schnitzler Syndrome
Fever, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, A... ORPHA:37748
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Epistaxis, Jaundice, Hypotension, Increased circulati... ORPHA:91547
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Abno... OMIM:612840
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Pfapa Syndrome
Abnormality of temperature regulation, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arth... ORPHA:42642
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri... OMIM:239200
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Manganese Poisoning
Postural tremor, Akinesia, Depression, Irritability, Gait disturbance, Inappropriate laughter, Dy... ORPHA:306682
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc... OMIM:252920
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:125800
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... ORPHA:79155
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:304800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurr... OMIM:602450
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Omenn Syndrome
Fever, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Lymphadenopathy,... ORPHA:39041
Summitt Syndrome
Obesity OMIM:272350
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... ORPHA:47612
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Macrophage Activation Syndrome
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnorm... ORPHA:158061
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hypercalcemia, Infantile, 1
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Aregenerative Anemia
Fever, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotio... ORPHA:101096
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Splenomegaly, Lymphadenopathy ORPHA:86893
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... OMIM:308230
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Combined Immunodeficiency Due To Crac Channel Dysfunction
Fever, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacte... ORPHA:169090
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Bardet-Biedl Syndrome 17
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Mercury Poisoning
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... ORPHA:47159
Immunodeficiency 54
Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Adre... OMIM:609981
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... OMIM:618886
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Jaundice, Dilated cardiomyopat... ORPHA:26793
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension, Renal salt wasting OMIM:264350
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia ORPHA:79264
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Perry Syndrome
Akinesia, Tremor, Depression, Inappropriate behavior, Dystonia, Short stepped shuffling gait OMIM:168605
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, R... OMIM:607115
Follicular Lymphoma
Fever, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Recurrent infections, Recurrent b... OMIM:612783
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Tachycardia, Elevated circulating aspartate aminotransferase conce... OMIM:614921
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Ano... ORPHA:3452
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... ORPHA:427
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly... OMIM:269920
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Deafness-Lymphedema-Leukemia Syndrome
Fever, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, L... ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Jaundice ORPHA:90033
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Classic Hodgkin Lymphoma
Fever, Ataxia, Skin rash, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... ORPHA:507
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia ORPHA:178478
Hsd10 Disease
Ataxia, Tremor, Choreoathetosis, Gait disturbance, Abnormal social behavior ORPHA:391417
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100080
Gamma-Heavy Chain Disease
Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune throm... ORPHA:100026
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hyperte... ORPHA:525731
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Familial Hemophagocytic Lymphohistiocytosis
Fever, Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Red... ORPHA:540
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Hepato... ORPHA:353298
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Increase... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Inability to walk, S... OMIM:257200
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... OMIM:614034
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Autoimmune hemolytic anemia, D... OMIM:614162
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Myocarditis, Splenomegaly... ORPHA:549
Postencephalitic Parkinsonism
Fever, Resting tremor, Oculogyric crisis, Akinesia, Depression, Tremor by anatomical site, Abnorm... ORPHA:97349
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Granulomatous Disease, Chronic, X-Linked
Fever, Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Oste... OMIM:306400
Boutonneuse Fever
Fever, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia,... ORPHA:83313
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Recurrent infections, Arth... OMIM:617591
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... OMIM:615978
Serotonin Syndrome
Hypertension, Tachycardia, Hepatic failure, Hypotension ORPHA:43116
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability, H... ORPHA:3198
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Rhabdoid Tumor
Fever, Lymphadenopathy, Anemia, Irritability, Thrombocytopenia ORPHA:69077
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Griscelli Syndrome
Fever, Ataxia, Abnormality of neutrophils, Splenomegaly, Hepatitis, Lymphadenopathy, Decreased ci... ORPHA:381
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Aceruloplasminemia
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Akinesia, Tremor, Limb ataxia, Gait at... ORPHA:48818
Classic Mycosis Fungoides
Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100082
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Hyp... ORPHA:37042
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Decreased circulating lutei... ORPHA:453533
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating alkaline phosphatase concentration, Tachycardia, Elevated hepatic transaminase ORPHA:263455
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Ataxia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Dec... OMIM:615688
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Follicular hyperplasia, Increased circulat... OMIM:615934
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal ... ORPHA:54251
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Spinocerebellar Ataxia Type 21
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Porphyria Variegata
Elevated hepatic transaminase, Hypertension, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:79473
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Abnormal conc... ORPHA:391428
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ... ORPHA:98848
Systemic-Onset Juvenile Idiopathic Arthritis
Fever, Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumat... ORPHA:85414
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Skin rash, Eosinophilia, Pustule, Myocarditis, Thyroiditis, Hepatitis, Lymphadenopathy, Tu... ORPHA:139402
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Decreased circulatin... OMIM:619750
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden c... OMIM:201475
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension OMIM:619064
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Anorexia, Hyperammonemia, Hypertension, Agitation, Hyperuricemia, Hypote... ORPHA:134
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Beta-Thalassemia
Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microc... ORPHA:848
Meningococcal Meningitis
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Hypo... ORPHA:33475
Primary Myelofibrosis
Fever, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, ... ORPHA:824
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hyper... OMIM:616878
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Scrub Typhus