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
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiogenic Shock
Oliguria, ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugul... ORPHA:97292
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Arrhythmia, Hypotension, Myocarditis, Renal insuffici... ORPHA:188
Colchicine Poisoning
Oliguria, Hypovolemia, Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Abnormal ... ORPHA:31824
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Ventricular tachycardia, Arrhythmia, Elevated circulating acylcarnitine concentration, ... ORPHA:159
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Renal Glucosuria
Glycosuria, Enuresis nocturna, Polydipsia, Polyuria, Polyphagia OMIM:233100
Genetic Recurrent Myoglobinuria
Oliguria, Arrhythmia, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, H... ORPHA:99845
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Kerion Celsi
Recurrent skin infections, Fever, Lymphadenopathy, Inflammatory abnormality of the skin, Recurren... ORPHA:499
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Congestive heart failure, Telangiectasia of the skin, Hypertensive crisis, Pulmonary ar... ORPHA:220393
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Nephropathy... OMIM:137950
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Renal Tubular Dysgenesis
Anuria, Renotubular dysgenesis, Hypotension, Abnormality of the urinary system OMIM:267430
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Hypertension, Renal ins... ORPHA:2704
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypertension, Stage 5 chronic kidney dis... OMIM:603965
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Eczema, Lymphaden... OMIM:608971
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Hyp... OMIM:161900
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Hypertensio... OMIM:616818
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Urinary incontinence, Hypotension OMIM:156310
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy, Fever ORPHA:319600
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... OMIM:613944
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Renal insufficiency ORPHA:2613
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Immunodeficiency 32A
Recurrent infections, Lymphadenopathy OMIM:614893
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Hypertensio... OMIM:601894
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Elevated circulating creatinine c... ORPHA:340
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Aneurysm Of Sinus Of Valsalva
Oliguria, Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur ORPHA:1054
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Microscopic Polyangiitis
Oliguria, Gastrointestinal hemorrhage, Hematuria, Arrhythmia, Congestive heart failure, Glomerulo... ORPHA:727
Variegate Porphyria
Tachycardia OMIM:176200
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Hypertension, Decreased circulating renin level, Polydipsia OMIM:613677
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating antibody... OMIM:618495
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent urinary tr... OMIM:615559
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Recurrent viral infections, Autoimmune throm... OMIM:300853
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Lassa Fever
Oliguria, Shock, Dysphagia ORPHA:99824
Lymphoproliferative Syndrome 3
Recurrent infections, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, ... OMIM:618261
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Adrenocortical adenoma OMIM:248100
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Focal Segmental Glomerulosclerosis 5
Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Focal segmental... OMIM:613237
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure OMIM:601493
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Hypertension, Renal insufficiency, Focal segmental glomerulosclerosis OMIM:607832
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular hyperplasia, Lym... OMIM:619126
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Coproporphyria, Hereditary
Tachycardia, Hypertension, Jaundice OMIM:121300
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Fever ORPHA:52416
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Recurrent mycobacterial infections OMIM:616126
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Hypertension, Decreased circu... ORPHA:320
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Prolonged QT interval, Hypertension, Polydipsia, Left ventricular hy... ORPHA:251274
Lujo Hemorrhagic Fever
Oliguria, Subconjunctival hemorrhage, Hypotension, Myocarditis, Elevated circulating C-reactive p... ORPHA:319213
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Hepatosplenomegaly... OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respir... ORPHA:277
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:613424
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Immunodeficiency 52
Recurrent pneumonia, Recurrent infections, Coombs-positive hemolytic anemia, Autoimmune thrombocy... OMIM:617514
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Sepsis In Premature Infants
Oliguria, Hypotension, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concen... ORPHA:90051
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... OMIM:612158
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chroni... OMIM:161950
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Increased circula... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Hypert... ORPHA:84090
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Gastrointestinal hemor... ORPHA:731
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent infections, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Decreased urine output, Acute kidney injury, Elevated circ... ORPHA:542323
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Ethanolaminosis
Cardiomegaly OMIM:227150
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:911
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma ORPHA:99976
Carcinoma Of Esophagus
Obesity, Esophageal neoplasm, Barrett esophagus, Weight loss ORPHA:70482
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Hyponatremia, Decreased urine output, Acute kidney injury, Anuria, Hyperkalemia, Hypoca... ORPHA:544482
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Abnormal renal physiology, Nephropathy, Atrioventricular block, Cardi... ORPHA:85447
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia... OMIM:619164
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... OMIM:614022
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Hypertension, Nephropathy OMIM:105200
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... OMIM:616963
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent infections, Fever, Increased circulating antibody level, Lymphadenopathy, Thrombocytope... OMIM:618048
Mu-Heavy Chain Disease
Splenomegaly, Fever, Abnormal B cell count, Anemia, Increased circulating antibody level, Lymphad... ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Fever, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia, Co... OMIM:603552
Exercise-Induced Malignant Hyperthermia
Oliguria, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Acute kidney injury, Hyper... ORPHA:466650
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Ve... OMIM:604169
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Conjunctivitis, Lymphadenopathy, Arthritis, Periodic fever OMIM:617772
Obesity Due To Sim1 Deficiency
Polyphagia, Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Cholera
Hypovolemic shock, Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnorm... ORPHA:173
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... OMIM:608184
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Palpitations, Hypertension, Decreased circulating renin level, Polydipsia, Increased... ORPHA:231580
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal... OMIM:603278
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Onychomycosis, Lymphadenopathy, Chronic oral candidiasis, Increased circulatin... OMIM:212050
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Uveitis, Hemophagocy... OMIM:615122
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Ventricular tachycardia, Increased circulating renin level, Renal ma... OMIM:263800
Immunodeficiency 7
Recurrent infections, Hypereosinophilia, Lymphadenopathy OMIM:615387
Denys-Drash Syndrome
Nephrotic syndrome, Proteinuria, Hypertension, Nephroblastoma, Nephropathy ORPHA:220
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Polydipsia, Intracranial hemorrhage, Epistaxis ORPHA:403
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Chronic noninfectious lymphadenopa... ORPHA:100083
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Recurr... ORPHA:331235
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Congestive heart failure, Hyperkale... ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody leve... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Hypothyroidism, Recurrent otitis media, Uveitis, C... OMIM:614700
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Hypokalemia, Nephrolithiasis, Pulmonary arterial hypertensi... ORPHA:369929
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal glo... ORPHA:567548
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Recurrent fever OMIM:618852
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations ORPHA:276556
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy, Fever ORPHA:158014
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Nephrogenic Diabetes Insipidus
Hydroureter, Hypovolemia, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria... ORPHA:223
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Senior-Loken Syndrome 3
Nephronophthisis, Enuresis, Polyuria, Renal corticomedullary cysts, Polydipsia, Stage 5 chronic k... OMIM:606995
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Aggressive behavior, Gait ataxia, Limb ataxia, Gait disturbance, Truncal a... ORPHA:98764
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated hepat... OMIM:600649
Omenn Syndrome
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... OMIM:603554
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Pulmonic st... OMIM:143880
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Arthritis, Increased inflammatory response, Fever, Acne, Increased cir... ORPHA:69126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Immunodeficiency 55
Recurrent infections, Recurrent skin infections, Neutropenia, Eczema, Lymphadenopathy OMIM:617827
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... ORPHA:3392
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations ORPHA:276575
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Lymphadenitis, Acute pancreatitis, Recu... OMIM:618935
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Recurrent uppe... OMIM:616100
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations ORPHA:276580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Snakebite Envenomation
Cardiogenic shock, Hypotension, Myocardial infarction, Cerebral ischemia, Tachycardia, Intracrani... ORPHA:449285
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Recurrent pneumonia, Hepatosplenomegaly, Decreased... ORPHA:169160
Immunodeficiency 61
Obesity, Colon cancer OMIM:300310
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Fever, Anemia, Lymphadenopathy, Arth... ORPHA:37748
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Lymphadenopathy, Recurrent pharyngitis, Abnormality of tem... ORPHA:42642
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Sple... OMIM:612840
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hypotension OMIM:203400
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Fever, Anemia, Lymphadenopathy ORPHA:100025
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Fever, Ataxia ORPHA:98293
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Abnormal social behavior, Oculogyric crisis, Agoraphobia, Anxiety... ORPHA:255
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Hype... OMIM:614473
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopa... OMIM:617713
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Relapsing Fever
Increased circulating lactate dehydrogenase concentration, Hypotension, Jaundice, Elevated hepati... ORPHA:91547
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Art... OMIM:611762
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Tachycardia, Palpitations ORPHA:324575
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Portal hypertension, Abnormal renal insterstitial... ORPHA:84081
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Cystinosis
Hypokalemia, Portal hypertension, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropa... ORPHA:213
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level, Renal magnesium wasting, Enuresis... ORPHA:199343
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, Anemia, Thrombocytopenia, Chronic mucocutaneous candid... ORPHA:79124
Summitt Syndrome
Obesity OMIM:272350
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Reduced ejection fraction, Arrhythmi... ORPHA:85451
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Cardiomegaly, Aortic regurgitation, Systolic heart murmur, Conges... ORPHA:3092
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyop... OMIM:115197
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Increased circulating renin level, Enuresis, Polyuria, Renal salt wa... OMIM:612780
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Recurrent infections, Bone marrow... ORPHA:47612
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Increased body weight, Overgrowth ORPHA:759
Thymic Aplasia
Hypothyroidism, Atypical or prolonged hepatitis, Recurrent urinary tract infections, Aplasia of t... ORPHA:83471
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotensi... ORPHA:556037
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... OMIM:613011
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Pneumonia, Splenomega... ORPHA:39041
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Aminoacid... OMIM:239200
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Recurrent infections, Lymphadenopathy OMIM:615895
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Fever ORPHA:86893
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, P... OMIM:613845
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Polyuria, Megacystis OMIM:125800
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Stiff-Person Syndrome
Tachycardia, Hypertension, Exaggerated startle response OMIM:184850
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Polyuria, Megacystis OMIM:304800
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Spinocerebellar Ataxia 21
Dystonia, Intention tremor, Ataxia, Akinesia, Aggressive behavior, Progressive cerebellar ataxia,... OMIM:607454
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Hypotension, Hypoalbuminemi... OMIM:616000
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Central Diabetes Insipidus
Polydipsia, Nocturia, Hyponatremia ORPHA:178029
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Hy... OMIM:123550
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Hypertension, Cer... OMIM:618886
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Tachycardia OMIM:615821
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotensi... ORPHA:556030
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Recurrent viral infections, Splenomega... OMIM:609981
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Dextrocardia, Situs inversus totalis, Polycystic k... OMIM:613095
Immunodeficiency 10
Recurrent infections, Autoimmune hemolytic anemia, Recurrent bacterial infections, Lymphadenopath... OMIM:612783
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal enzyme/coenzyme activity, Tachycardia ORPHA:79264
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Anemia, Lymphadenopathy, Arthritis, Recu... OMIM:607115
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Jaundice, Congestive heart failure ORPHA:90033
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Megacystis, Bidirectional shunt, Elevat... OMIM:619351
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Dextrocardia, Situs inversus totalis, Polydipsia, Stage 5 chron... OMIM:615994
Proximal Renal Tubular Acidosis
Glycosuria, Hypovolemia, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hyperca... ORPHA:47159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Jaundice, ... ORPHA:26793
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Cirrhotic Cardiomyopathy
Right atrial enlargement, Increased circulating NT-proBNP concentration, Left ventricular diastol... ORPHA:57777
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Blepharospasm, Akinesia,... ORPHA:240094
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transaminase, Decreased liver func... OMIM:616299
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiomegaly, Right ventricular hypertrophy, Congestive hear... ORPHA:860
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Abnormal proport... ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233710
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Fever ORPHA:545
Familial Hypoaldosteronism
Hypovolemia, Orthostatic hypotension, Hyponatremia, Decreased urinary potassium, Increased circul... ORPHA:427
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Congestive heart failure, Splenomegaly, Hepatomegaly, Conjugated hyperbilirub... OMIM:269920
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Chronic hepa... OMIM:614921
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Transient hyperlipidemia, Arrhythmia, Hepatomegaly, Elevated circulating ... OMIM:255120
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Hypotension, Hyponatremia OMIM:264350
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Fever, Ataxia, Lymphadenopathy, Skin rash ORPHA:391
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Polydipsia, Hypermagnesemia, Hypocal... OMIM:617671
Aceruloplasminemia
Dystonia, Blepharospasm, Tremor, Ataxia, Akinesia, Craniofacial dystonia, Gait ataxia, Apathy, Di... ORPHA:48818
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233690
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:613426
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly, El... OMIM:266500
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Hypertension, Renal insuffi... OMIM:618061
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Recurrent otitis media, Hepatosplenomegaly, Recurren... ORPHA:353298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Type I diabetes mellitus, Arthritis, Coombs-positive hemolytic anem... OMIM:304790
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, Inability to walk, Akines... ORPHA:391411
Serotonin Syndrome
Tachycardia, Hypotension, Hepatic failure, Hypertension ORPHA:43116
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:306400
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Stiff Person Spectrum Disorder
Hypothyroidism, Anxiety, Agoraphobia, Emotional lability, Diabetes mellitus, Exaggerated startle ... ORPHA:3198
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Hypomagnesemia, Hypochloremia, Hyposthenuria, Hypercalciuria, Incr... OMIM:241200
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Mastocytosis, Splenomegaly, Lymphadenopathy ORPHA:66661
Yellow Fever
Reduced ejection fraction, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Recurrent infections, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Increased c... OMIM:617591
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... OMIM:615978
Manganese Poisoning
Dystonia, Akinesia, Aggressive behavior, Emotional lability, Irritability, Gait disturbance, Post... ORPHA:306682
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Rhabdoid Tumor
Fever, Anemia, Irritability, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Hypotension, Myocarditis, Myocardial infarction, Splen... ORPHA:3452
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Eczema, Lymphadenopathy, Skin rash ORPHA:2584
Cocaine Intoxication
Hypovolemia, Increased circulating lactate dehydrogenase concentration, Diffuse alveolar hemorrha... ORPHA:90068
Postencephalitic Parkinsonism
Happy demeanor, Resting tremor, Oculogyric crisis, Abnormal aggressive, impulsive or violent beha... ORPHA:97349
Legionnaires Disease
Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Splenomegaly, Fever, Ataxia, ... ORPHA:549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Recurrent upper respiratory tract infection... OMIM:600802
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Prolonged QT interval, Ventricular septa... OMIM:601005
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase ORPHA:263455
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Fever, Decreased circulating antibody leve... ORPHA:381
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Perry Syndrome
Suicidal ideation, Dystonia, Short stepped shuffling gait, Anxiety, Akinesia, Apathy, Tremor OMIM:168605
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Pica, Hypotension OMIM:618480
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Fever, Anemia, Liver abscess, Abnormality of the lymph nodes, Abnormality of the ly... ORPHA:54251
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent infections, Paratracheal lymphadenopathy, Leukopenia, Increased circulating IgG level, ... OMIM:615934
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Anemia, Lymphopenia, Skin rash, Leuk... OMIM:615688
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Polydipsia, Splenomegaly, Hepatomegaly, Palpitations... ORPHA:525731
Gitelman Syndrome
Hypokalemia, Proteinuria, Hypomagnesemia, Renal tubular acidosis, Ventricular fibrillation, Hypoc... ORPHA:358
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Sickle Cell Anemia
Hematuria, Splenomegaly, Hepatomegaly, Hypertension, Renal insufficiency, Cardiomegaly OMIM:603903
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepa... ORPHA:37042
Hsd10 Disease
Gait disturbance, Tremor, Ataxia, Abnormal social behavior ORPHA:391417
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Hypercalciuria, Increased circulatin... OMIM:601678
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Increased pro... ORPHA:98848
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Elevated circul... ORPHA:268
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Fever, Lymphadenopathy, Pericarditis, Anterior uveitis, Skin rash, Juvenile rheumat... ORPHA:85414
Infant Botulism
Cardiac arrest, Hyponatremia, Hypotension, Hypertension, Dysphagia ORPHA:178478
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased plas... OMIM:212140
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Decre... OMIM:201475
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Hepatomegaly, Increa... OMIM:256550
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated hepatic transaminase, Bradycardia, Tachycardia OMIM:613327
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Asp... OMIM:614034
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Beta-Thalassemia
Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Irritability, Hepatitis, ... ORPHA:848
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Fever, Thrombocytop... ORPHA:824
Neuroleptic Malignant Syndrome
Increased circulating lactate dehydrogenase concentration, Arrhythmia, Pulmonary embolism, Hypote... ORPHA:94093
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Spl... OMIM:214500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomegaly, Cystic renal dysplasia, Hyperlipidemia, Decreased p... ORPHA:228308
Parkinson Disease 17
Resting tremor, Akinesia, Tremor OMIM:614203
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Porphyria Variegata
Abnormal enzyme/coenzyme activity, Tachycardia, Hypertension, Elevated hepatic transaminase ORPHA:79473
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Arrhythmia, Congestive heart failure,... OMIM:235200
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Scrub Typhus
Infectious encephalitis, Splenomegaly, Fever, Myocarditis, Tremor, Lymphadenopathy, Anterior uvei... ORPHA:83317
Neuroendocrine Tumor Of The Colon
Hypotension, Melena, Right ventricular failure, Elevated hepatic transaminase, Palpitations, Tric... ORPHA:100080
Niemann-Pick Disease, Type A
Microcytic anemia, Inability to walk, Splenomegaly, Athetosis, Recurrent respiratory infections, ... OMIM:257200
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Fever, Tubulointers... ORPHA:139402
Scorpion Envenomation
Increased circulating lactate dehydrogenase concentration, Arrhythmia, Premature ventricular cont... ORPHA:466677
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Akinesia, Tremor ORPHA:98773
Burkitt Lymphoma
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia OMIM:177735
Corticobasal Syndrome
Dystonia, Akinesia, Limb dystonia, Gait disturbance, Tremor ORPHA:454887
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Hyperalaninemia OMIM:619064
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Fever, Generalized lymphad... ORPHA:829
Hyper-Igd Syndrome
Recurrent infections, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA ... OMIM:260920
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertroph... OMIM:616878
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Kufor-Rakeb Syndrome
Dystonia, Akinesia, Ataxia, Aggressive behavior, Gait disturbance, Torticollis, Tremor OMIM:606693
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Erythroderma, Lympha... ORPHA:3162
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Bronchiectasis, Abnor... ORPHA:169105
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Arrhythmia, Hepatomegaly, Elevated urinary 3-hydroxybutyric aci... ORPHA:42
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, High-output congestive heart failure, Premature ventricular contraction,... ORPHA:423
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Proteinuria, Polyuria, Hypophosphatemic rickets, Dysphagia, Microscopic ... OMIM:219800
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Hereditary Coproporphyria