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Gene: Kel MGI:1346053

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Kell blood group
Synonyms:
CD238

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kel 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 Kel by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Intrinsic Factor Deficiency
Reduced haptoglobin level, Somatic sensory dysfunction, Megaloblastic anemia, Paresthesia, Increa... OMIM:261000
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Splenomegaly OMIM:612126
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Glutamate-Cysteine Ligase Deficiency
Ataxia, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Myocardial infarc... ORPHA:54057
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... OMIM:237800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... ORPHA:90044
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Ataxia, Erythroid hyperplasia, Reticulocytosis OMIM:300653
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome,... OMIM:232300
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Ang... ORPHA:85451
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration ORPHA:713
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:300376
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Cln3 Disease
Shuffling gait, T-wave inversion, Ataxia, Loss of ambulation, Bradycardia, Vacuolated lymphocytes ORPHA:228346
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Transient hypophosphatemia, Hyperkalemia... ORPHA:79102
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Spastic ataxia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethionine... OMIM:277410
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... OMIM:232800
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... ORPHA:86839
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Hypertension, Macrocytic anemia, Increased ... ORPHA:2169
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Truncal ataxia, Congestive heart failure, Aortic regurgitation, Shortened PR i... OMIM:620066
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Nathalie Syndrome
Abnormal EKG OMIM:255990
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl... OMIM:127550
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... OMIM:618892
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Ataxia, Shortened PR interval, Unsteady gait OMIM:614947
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Bradycardia, Tachycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Somatic sensory dysfunction, Abnormal EKG, Progressive gait ataxia, Progressive cerebellar ataxia... ORPHA:1177
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... ORPHA:90647
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Osteopetrosis, Autosomal Recessive 4
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis OMIM:611490
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Elevated circulating creatine kinase concentration, Loss of ambulation, Pal... OMIM:310300
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration OMIM:309930
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... OMIM:266200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood ur... OMIM:274150
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... ORPHA:563
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Elevated circulating creatine kinase co... ORPHA:308552
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Normochromic microcytic anemia, Noncompaction cardiomyopathy, Ataxia, Conge... OMIM:610198
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... OMIM:235700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased blood urea nitrogen, ... OMIM:235400
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... ORPHA:101016
Abetalipoproteinemia
Gait ataxia, Impaired distal proprioception, Anemia, Decreased LDL cholesterol concentration, Hyp... ORPHA:14
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Polycythemia ORPHA:90042
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:182900
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly OMIM:185000
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... OMIM:210250
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elev... ORPHA:231222
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Recessive Mitochondrial Ataxia Syndrome
Gait disturbance, Ataxia, Positive Romberg sign, Dysmetria, Increased serum pyruvate, ST segment ... ORPHA:94125
Eisenmenger Syndrome
Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, Hepatojugular... ORPHA:97214
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Mitral regurgitation, Dilated cardiomyopathy ORPHA:261250
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca... OMIM:618775
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Bradycardia, Decreased plasma free carnitine, Congestive heart failure OMIM:619048
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... ORPHA:848
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Inability to walk, Heart murmur, Transient ischemic a... ORPHA:365
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia, Ataxia, Hyponatremia OMIM:616949
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... ORPHA:300298
Neuroleptic Malignant Syndrome
Chorea, Hypotension, Hyperphosphatemia, Hyperuricemia, Pulmonary embolism, Hypocalcemia, Hyperkal... ORPHA:94093
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Pulmonary arterial hypertension, Hyperprolinemia, Bradycardia, Hypergl... OMIM:616299
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Bradycardia, Atrioventricular block OMIM:614407
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce... OMIM:194380
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Arrhythmia, Sensory ataxia, Bradycardia, Cardiomyopathy OMIM:609286
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Hypertension, Re... ORPHA:90038
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval OMIM:601005
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... ORPHA:398124
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Necrotizing Enterocolitis
Hypotension, Shock, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Bradycardia ORPHA:391673
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Elevated circulatin... OMIM:310200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Paresthesia, Hypokalemia, Hematochezia, Hypocalcemia, Hypomagnesemia OMIM:175500
Al Amyloidosis
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Postural h... ORPHA:85443
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... OMIM:613845
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Friedreich Ataxia
Gait ataxia, Abnormal EKG, Limb ataxia, Congestive heart failure, Ataxia, Impaired proprioception... OMIM:229300
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri... OMIM:212138
Dopamine Beta-Hydroxylase Deficiency
Anemia, Abnormal EKG, Syncope, Increased blood urea nitrogen, Orthostatic hypotension, Elevated c... ORPHA:230
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Pearson Syndrome
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... ORPHA:699
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... OMIM:615745
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... ORPHA:811
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Sepsis In Premature Infants
Hypotension, Anemia, Tachycardia, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:90051
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Marburg Hemorrhagic Fever
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... ORPHA:99826
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Pseudo-Torch Syndrome 2
Thrombocytopenia, Bradycardia, Cerebral hemorrhage OMIM:617397
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradycardia OMIM:614702
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Chorea, Right bundle branch block, Tip-toe gait, Reduced left ventricular ejection fraction, Abno... ORPHA:268
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... ORPHA:97292
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Elevated circulating creatine kinase concentration, Loss of ambulation, Palpitations, Di... OMIM:616812
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Unconjugated... ORPHA:447
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F OMIM:617101
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea ni... ORPHA:231111
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Hypoplasia of the thymus ORPHA:40366
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Ataxia, Hepatosplenomegaly, Dysmetria ORPHA:93400
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Glutamine Deficiency, Congenital
Hyperammonemia, Bradycardia, Hypoglutaminemia OMIM:610015
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... ORPHA:88
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Paresthesia, Decreased circulating renin level, Hypokalemia, Hypertension, Intra... ORPHA:231625
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Right bundle branch block, T-wave inversion, ... ORPHA:263297
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Tachycardia, Prolonged QT interval, Hypertrig... OMIM:613327
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Tetanus
Tachycardia, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration ORPHA:3299
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... ORPHA:2330
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Gitelman Syndrome
Abnormal T-wave, Paresthesia, Hypokalemia, Prominent U wave, Low-to-normal blood pressure, Raynau... ORPHA:358
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Abnormal EKG, Ataxia, Elevated circulating crea... ORPHA:480864
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... ORPHA:91547
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Paresthesia,... ORPHA:79277
Rett Syndrome
Abnormal T-wave, Gait ataxia, Gait apraxia, Truncal ataxia, Prolonged QTc interval OMIM:312750
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Lymphopenia, Shock, Elevated circulating C-reactive protein... ORPHA:319213
Gitelman Syndrome
Hypotension, Paresthesia, Hypokalemia, Increased circulating renin level, Ataxia, Prolonged QT in... OMIM:263800
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hyperphosphatemia, Sinus tachycardia, Abnormal pulse pressure, ST s... ORPHA:466650
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Illum Syndrome
Bradycardia, Calcinosis OMIM:208155
Sheehan Syndrome
Palpitations, Hyponatremia, Orthostatic hypotension, Bradycardia, Normochromic anemia ORPHA:91355
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... ORPHA:90037
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Dilated cardiomyopathy, Ataxia, Hypochromic microcytic anemia, Pr... ORPHA:66634
Castleman Disease
Anemia, Restrictive cardiomyopathy, Decreased mean corpuscular volume, Elevated circulating C-rea... ORPHA:160
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Transcobalamin Ii Deficiency
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Ataxia, Macrocytic anemia, Neutropenia OMIM:275350
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... ORPHA:90362
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Ventricular arrhythmia, Abnormal left ventri... ORPHA:36913
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Anemia, Tachycardia, Hyponatremia ORPHA:79273
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Loss of ambulation, Bradycardia ORPHA:565624
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Paresthesia, Calcinosis, Prolonged QT interval, Hypocalce... ORPHA:94090
Dextrocardia
T-wave inversion, Abnormality of the spleen, Abnormal EKG ORPHA:1666
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... ORPHA:449285
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... ORPHA:99827
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Anemia, Hypertension OMIM:611489
Glossopharyngeal Neuralgia
Bradycardia, Syncope, Dysesthesia, Jaw claudication ORPHA:221098
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration OMIM:619040
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... OMIM:263400
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Paresthesia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyp... OMIM:601198
East Syndrome
Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Difficulty walking, Hy... ORPHA:199343
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
D-Glyceric Aciduria
Bradycardia, Nonketotic hyperglycinemia OMIM:220120
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia ORPHA:90036
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... OMIM:619743
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Yellow Fever
Reduced left ventricular ejection fraction, Hyperbilirubinemia, Neutrophilia, Supraventricular ar... ORPHA:99829
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, S... ORPHA:90033
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... ORPHA:508542
Lead Poisoning
Somatic sensory dysfunction, Abnormal T cell morphology, Anemia, Hypertension, Imbalanced hemoglo... ORPHA:330015
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Proximal Spinal Muscular Atrophy
Bradycardia, Difficulty walking, Inability to walk ORPHA:70
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Bradycardia, Dilated cardiomyopathy OMIM:610768
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... ORPHA:57777
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Stiff-Person Syndrome
Tachycardia, Anemia, Hypertension OMIM:184850
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Scorpion Envenomation
Myocarditis, Paresthesia, T-wave inversion, Cardiogenic shock, Hypokalemia, Prominent U wave, Bun... ORPHA:466677
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Autosomal Dominant Hypocalcemia
Hypotension, Hyperphosphatemia, Paresthesia, Congestive heart failure, Arrhythmia, Hypocalcemia, ... ORPHA:428
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Ataxia, Hypertension, Hypomag... OMIM:612780
Tempi Syndrome
Increased hematocrit, Telangiectasia, Intracranial hemorrhage, Polycythemia ORPHA:284227
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... ORPHA:98849
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anemia, Somatic sensory dysfunction, Hypertension, ... ORPHA:79473
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Dysdiadochokinesis, Truncal... ORPHA:309854
Orthostatic Hypotension 1
Orthostatic hypotension, Increased blood urea nitrogen, Hypomagnesemia, Atrial fibrillation OMIM:223360
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating creatin... ORPHA:26793
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Torsade de pointes, Elevated circulating acylcarnitine concentration, Cardiac arrest... OMIM:616878
African Trypanosomiasis
Somatic sensory dysfunction, Third degree atrioventricular block, Paresthesia, Akinesia, Abnormal... ORPHA:3385
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... ORPHA:3093
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Elevated circulating creatine kinase concentration OMIM:615351
Hamamy Syndrome
Prolonged QRS complex, Mitral regurgitation, Microcytic anemia, Hypochromic anemia OMIM:611174
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... ORPHA:37042
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration ORPHA:79404
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventri... OMIM:170390
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Carney Triad
Anemia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia ORPHA:139411
Familial Hyperaldosteronism Type Iii
Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval ORPHA:251274
Encephalitis Lethargica
Bradycardia ORPHA:83600
Ethylene Glycol Poisoning
Hypotension, Hyperkalemia, Congestive heart failure, Ataxia, Hypertension, Shock, Prolonged QT in... ORPHA:31826
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Hypercholeste... ORPHA:90674
Alternating Hemiplegia Of Childhood
Chorea, Abnormal T-wave, Choreoathetosis, Ataxia, Cardiac conduction abnormality, Arrhythmia, Car... ORPHA:2131
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Palpitations, Tachycardia OMIM:188580
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia OMIM:617248
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... OMIM:145600
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia OMIM:613309
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:600901
Renal Nutcracker Syndrome
Orthostatic hypotension, Anemia, Syncope, Tachycardia ORPHA:71273
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... ORPHA:980
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227650
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Ataxia, Impaired ... OMIM:601992
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Calcinosis, Prolonged QT interval, Hypocalce... ORPHA:94089
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... OMIM:557000
Bohring-Opitz Syndrome
Bradycardia, Inability to walk ORPHA:97297
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Diamond-Blackfan Anemia 1
Reticulocytopenia, Congestive heart failure, Thrombocytosis, Tricuspid stenosis, Thrombocytopenia... OMIM:105650
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... OMIM:171420
Hemorrhagic Fever-Renal Syndrome
Hypotension, Anemia, Hyperphosphatemia, Hyperkalemia, Intracranial hemorrhage, Internal hemorrhag... ORPHA:340
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227645
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Hypocalcemic tetany, Congestive heart failure, Dilated cardiomyopathy, Hypo... ORPHA:73224
Dpagt1-Cdg
Anemia, Akinesia, Inability to walk, Intracranial hemorrhage, Ataxia, Prolonged QT interval ORPHA:86309
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Hepatocellular Carcinoma
Hypotension, Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Internal hemorrhage, Thromboc... ORPHA:88673
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Gait disturbance, Elevated circulating creatine concentration, Broad-based... OMIM:300352
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Paresthesia, Hypokalemia, Low-to-normal blood pressure, Increas... OMIM:601678
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... ORPHA:71212
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Falls, Inability to walk, Gait disturbance, Dilated cardiomyopathy,... ORPHA:273
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia, Bradycardia OMIM:218700
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Woodhouse-Sakati Syndrome
Abnormal T-wave, Choreoathetosis, Hyperlipidemia OMIM:241080
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal circulating thyroglobulin level, Bradycardia ORPHA:226307
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Calcinosis, Prolonged QT interval, Hypocalce... ORPHA:79444
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227646
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Calcinosis, Choreoathetosis, Hypertension, P... ORPHA:79443
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Paresthesia, Hypokalemia, Low-to-normal blood pressure, Increas... OMIM:241200
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Woodhouse-Sakati Syndrome
Abnormal T-wave, Choreoathetosis, Hyperlipidemia ORPHA:3464
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Hypertension, Hypochloremia, Hyponatremia, Hypoma... ORPHA:89938
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypophosp... OMIM:219800
Telangiectasia, Hereditary Hemorrhagic, Type 2
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... OMIM:600376
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Tip-toe gait, Hemolytic anemia, Ischemic stroke, Falls, Hypocalcemia, Hepatosplenomegaly, Portal ... OMIM:619503
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia OMIM:619482
Telangiectasia, Hereditary Hemorrhagic, Type 1
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... OMIM:187300
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Prolonged QT interval OMIM:620029
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:99880
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Parathyroid Carcinoma
Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:143
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Polysplenia, Prolonged QT interval, Splenomegaly, Cardiomyopathy ORPHA:373
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Multiple Endocrine Neoplasia Type 1
Hypertension, Hypercalcemia, Hematemesis, Shortened QT interval, Melena ORPHA:652
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia ORPHA:99413
Turner Syndrome
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia ORPHA:99228
Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension, Hyperlipidemia ORPHA:99226

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kel

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kel.

No publications found that use IMPC mice or data for Kel.

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MGI Allele Allele Type Produced
Keltm44783(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Keltm44783(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Keltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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