Gene Summary

Name:
potassium voltage-gated channel, Isk-related subfamily, gene 3
Synonyms:
2210017H05Rik,  MiRP2

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Kcne3 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.

The table below shows human diseases associated to Kcne3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kcne3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Gout, Myocardial infarction, Hypercholesterolemia, Diabetes mellitu... OMIM:610947
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Adrenogenital syndrome, Hyp... OMIM:103900
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:615703
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... ORPHA:94090
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... ORPHA:251274
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:404
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:403
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... ORPHA:231625
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... ORPHA:1501
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... OMIM:301033
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:177735
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Hypovolemic shock, Atopic dermatitis, Pustule, Abnormal circulating a... ORPHA:171876
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hypokalemia, Decreased circulating renin level, Hyperaldostero... OMIM:613677
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Distal Myopathy, Tateyama Type
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Palpitations, ... ORPHA:231580
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:369929
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Hyperhidrosis, Sudd... ORPHA:34217
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bradycardia, Hypothyroidism, Hypocalcemia OMIM:601005
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Hepatic Lipase Deficiency
Hypercholesterolemia, Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris OMIM:614025
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures,... ORPHA:36913
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Inflammatory abnormality of the skin, Prolonged QT inter... ORPHA:26793
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hypertension, Abnormal response to corticotropin releasing horm... ORPHA:189427
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Episodic hyperhidrosis, Focal pancreatic islet hyperplasia,... ORPHA:276575
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Elevated circ... OMIM:212138
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Increased QRS voltage, Prolonged QTc interval... OMIM:619040
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... OMIM:603373
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hyperammonemia, Elevated circulating creatine ki... OMIM:600649
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Trimethylaminuria
Hypertension, Recurrent pneumonia, Tachycardia OMIM:602079
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Episodic hyperhidrosis, Excessive insulin response to gluca... ORPHA:276556
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concen... OMIM:616878
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Goiter, Palpitations, Tachycardia, Hyperthyroidism OMIM:613239
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Episodic hyperhidrosis, Maternal diabetes, Excessive insuli... ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased circulating ceruloplasmi... OMIM:616829
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Goiter, Palpitations, Tachycardia, Hyperthyroidism OMIM:188580
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Hyperhidrosis ORPHA:2151
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Episodic hyperhidrosis, Maternal diabetes, Excessive insulin response to glucagon test, ... ORPHA:324575
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Prolonged QTc interval, Serosit... ORPHA:231111
Ectopic Aldosterone-Producing Tumor
Hypertension, Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Epistaxis, Glucoc... ORPHA:231632
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... ORPHA:94089
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Macronodular adrenal hyperplasia, Primary hypercortisolism, In... OMIM:219080
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Dia... ORPHA:77296
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Malar rash, A... ORPHA:398124
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval OMIM:615351
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... OMIM:615954
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Hyperammonemia, Elevated creatine kinase after exercise,... ORPHA:159
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Variegate Porphyria
Tachycardia OMIM:176200
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Reduced ejection fraction, Atrial fibrillatio... ORPHA:217607
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Hyperinsulinemic hypo... ORPHA:71212
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... OMIM:605373
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypercholesterolemia, Hypogonadism, Diabetes mellitus ORPHA:181393
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, T... OMIM:613327
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:201910
Temple Syndrome
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Hypertriglyce... OMIM:616222
Gitelman Syndrome
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Delayed puberty, Hypom... OMIM:263800
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Hyperkalemia, Ventricular tachycardia, Supraventricular tachyc... ORPHA:423
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Hyperaldosteronism, Hyperchloriduria, Increase... OMIM:607364
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... OMIM:171420
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:615812
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Hypocholesterolemia, Decreased LDL cholesterol concentration, Blephariti... OMIM:616834
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Episodic hy... ORPHA:79102
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia, Hyperhidrosis, Hyp... ORPHA:276608
Coronary Arterial Fistula
Syncope, Bacterial endocarditis, Systolic heart murmur, Continuous heart murmur, Palpitations, El... ORPHA:2041
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia OMIM:601493
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Orthostatic hypotension, Ele... ORPHA:556037
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism OMIM:214700
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemic tetany, Hypomagnesemia, Congestive heart failure, Hyperaldos... ORPHA:73224
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Palpitations, Elevated circulating creat... OMIM:602668
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Tubulointerstitial nephritis, Ventricul... ORPHA:90068
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Elevated circulating creatine kinase concentration, Abnormal EKG, Hyperamm... ORPHA:480864
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... ORPHA:412
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Diabetes mellitus, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Hypokalemia, ... OMIM:170390
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Recurrent otitis ... ORPHA:254531
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Pheochromocytoma, Palpitations, Increased circulating cortisol level, Medullary thy... OMIM:171400
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia OMIM:613424
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Orthostatic hypotension, Ele... ORPHA:556030
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism ORPHA:199343
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypertension, Decreased circulating aldosterone level, Increased urinary cor... ORPHA:786
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Elevated circulating creatine kinase concentration, Tachycardia, Hyperphosphatemia,... OMIM:145600
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Conge... OMIM:310200
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Type II diabetes mellitus, H... ORPHA:189439
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Elevated circulating creatinine concentration, Tachycardia, Heart bloc... ORPHA:542323
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... ORPHA:567548
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Low Phospholipid-Associated Cholelithiasis
Hypertension, Cholangitis, Cholelithiasis, Pancreatitis, Hypercholesterolemia, Diabetes mellitus,... ORPHA:69663
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
African Iron Overload
Abnormal thyroid morphology, Elevated hepatic iron concentration, Peritonitis, Increased circulat... ORPHA:139507
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Laron Syndrome
Abnormality of the endocrine system, Hypercholesterolemia, Hypohidrosis, Osteoarthritis, Delayed ... ORPHA:633
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Pneumonia, Palpitations, Increased serum seroto... ORPHA:97287
Ethylene Glycol Poisoning
Shock, Hypertension, Hyperkalemia, Prolonged QT interval, Atrial fibrillation, Tachycardia, Gastr... ORPHA:31826
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Hypocholesterol... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Bilateral cryptorchidism, Elevated circulating glu... ORPHA:66634
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... ORPHA:401923
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... ORPHA:97214
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration,... ORPHA:264675
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Snakebite Envenomation
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... ORPHA:449285
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thy... ORPHA:90674
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Tachycardia, Goiter, Thyroid hyperplasia OMIM:609152
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Ogden Syndrome
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... OMIM:300855
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Precocious puberty in females, Polycystic ovaries, Hypercholesterole... ORPHA:528
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... OMIM:202010
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Skin rash, Increased total bilirubin ORPHA:90036
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Minimal change glomerulonephritis, Hypoalbuminemia OMIM:616730
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... ORPHA:90791
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Endocarditis, Palpitations, Ventr... ORPHA:1686
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Conjunctivitis, Hypocalcemic tetany, Prolonged QT... ORPHA:79444
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Infant Acute Respiratory Distress Syndrome
Pneumonia, Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Hydroxykynureninuria
Stomatitis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension ORPHA:79155
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... OMIM:604169
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Cholestasis, Progressive Familial Intrahepatic, 8
Bile duct proliferation, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbiliru... OMIM:619662
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:199296
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Tularemia
Pneumonia, Tachycardia, Otitis media, Inflammatory abnormality of the eye, Skin rash, Erythema no... ORPHA:3392
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:612780
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Capillary leak, Infectious enceph... ORPHA:36234
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... OMIM:614022
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Hypokalemia, Increased serum prostaglandin E... OMIM:601678
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypertension, Conjunctivitis, Hypocalcemic tetany... ORPHA:79443
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... OMIM:171300
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypercholesterolemia, Hypoalbuminemia, Incre... ORPHA:86816
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Eczema, Hypercholesterolemia, Minimal change glomerulonephritis OMIM:618348
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating fatty-acid concentration, Tachycardia, Pancre... ORPHA:263455
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:278000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hyponatremia, Hyperkalemia, Macroorchidism, Hyperactive renin-angiotensin sy... ORPHA:90790
Galactokinase Deficiency
Hypergalactosemia, Hypercholesterolemia, Premature ovarian insufficiency, Hypergonadotropic hypog... ORPHA:79237
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... ORPHA:652
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating cre... ORPHA:466650
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Orthostatic syncope, Elevated circulating creatinine concentrat... ORPHA:230
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Cryptorchidis... ORPHA:96184
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Acquired Methemoglobinemia
Palpitations, Syncope, Arrhythmia, Tachycardia ORPHA:464453
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Maternal diabetes, Abnormality of blood circulation, Tachycardia, Congestiv... ORPHA:860
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Endocarditis, Increased QRS voltage,... ORPHA:3093
Recessive Mitochondrial Ataxia Syndrome
Hashimoto thyroiditis, ST segment elevation, Increased serum pyruvate ORPHA:94125
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Hypercalcemia, Neoplasm of the thymus, Increased circulating cortisol le... ORPHA:97289
Gaisböck Syndrome
Hypertension, Hyperproteinemia, Elevated diastolic blood pressure, Gout, Hyperuricemia, Myocardia... ORPHA:90041
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Tachycardia, Hy... ORPHA:39812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hepatitis, Hypercholesterolemia, Cholesterol gallstones,... ORPHA:209902
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary corticotropic cell a... ORPHA:913
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Hypercholesterolemia, Increased circulating chylo... OMIM:238600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Carney Triad
Hypertension, Adrenal overactivity, Adrenocortical adenoma, Tachycardia, Paraganglioma, Gastroint... ORPHA:139411
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Adenoma sebaceum, Increased circulating cortisol level, In... OMIM:131100
Paragangliomas 4
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Paraganglioma... OMIM:115310
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Tachycardia, Elevated circulating c... ORPHA:368
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Tetanus
Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tachycardia ORPHA:3299
Lipodystrophy, Familial Partial, Type 2
Hypertension, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Polyc... OMIM:151660
Sarcoidosis
Abnormal cardiac ventricular function, Hypercalcemia, Keratoconjunctivitis sicca, Tubulointerstit... ORPHA:797
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland OMIM:182290
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Decreased serum insulin-like growth factor 1, Elevated circulating creati... OMIM:614921
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Pancreatitis, Hyperchol... ORPHA:247585
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... ORPHA:466677
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal salivary gland morphology, Abnormal P wave, Xerostomia, Inc... ORPHA:85443
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hypokalemia, Increased serum prostaglandin E2, Hypochloremi... OMIM:241200
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Diabetes insipidus, Hypokalemia, Chronic otitis media, Cheilitis, Hypophosphatemia,... ORPHA:534
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Shortened QT interval, Hypercalcemia, Thyroid car... ORPHA:99880
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration ORPHA:79273
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Pulmonic stenosis, Aplasia/Hypoplasia of the thymus, Hypocalcemi... ORPHA:3426
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal echocardiogram, Congestive heart failure, Diabetes mellitus... OMIM:229300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Tachycardia, Hyperhidrosis ORPHA:79264
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... ORPHA:199244
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Shortened QT interval, Hypercalcemia, Thyroid car... ORPHA:143
Mirizzi Syndrome
Gallbladder perforation, Pancreatitis, Cholelithiasis, Tachycardia, Hyperbilirubinemia, Cholester... ORPHA:521219
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Elevated circulating C-reactive protein conc... ORPHA:70591
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Increased radioactive iodine upta... ORPHA:95716
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Arthritis, Hyperapobetalipop... OMIM:210250
Relapsing Fever
Elevated circulating creatinine concentration, Epistaxis, Tachycardia, Increased total bilirubin,... ORPHA:91547
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Hypercholesterolemia, Pulmonary carc... ORPHA:363618
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Diabetes mellitus ORPHA:49827
Leprechaunism
Hypertrophic cardiomyopathy, Central hypothyroidism, Hypokalemia, Enlarged ovaries, Hyperaldoster... ORPHA:508
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovarian serous cystadenoma, Unilateral cryptorchidism, Prolonged QT interval, Streak ovary, Recur... ORPHA:1772
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Pituitary Apoplexy
Hypertension, Increased circulating prolactin concentration, Hyponatremia, Hypergonadotropic hypo... ORPHA:95613
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Acute pancreatitis, D... ORPHA:99827
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
17Q24.2 Microdeletion Syndrome
Pineal cyst, Recurrent otitis media, Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypertension, Hyperphosphatemia, Hyponatremia, Hypernatremia, Elevated circulating ... ORPHA:94093
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Cardiomyopathy, Hyperchol... ORPHA:370
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased serum insulin-like growth factor 1, Hyperlipidemia, Hypogonadotropic h... OMIM:241080
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia, Hydrocele testis OMIM:618810
Cholera
Hyponatremia, Hypovolemic shock, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Aspiration ... ORPHA:173
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Bilateral cryptorchidism, Elev... OMIM:618156
Stiff-Person Syndrome
Hypertension, Hyperhidrosis, Tachycardia, Diabetes mellitus OMIM:184850
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Increased circulating free fatty acid level, Hypercholestero... ORPHA:2457
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Inflammation of the large intestine, Hyperlipidemia, Epistaxis, Polycystic ovaries,... ORPHA:79259
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentrat... ORPHA:64753
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Smith-Magenis Syndrome
Chronic otitis media, Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Precocious pube... ORPHA:819
Cushing Disease
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Capillary fragility, Increas... ORPHA:96253
Ppoma
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... ORPHA:97278
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Tachycardia ORPHA:335
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Abnormal EKG, Reduced ejection fraction, Righ... ORPHA:268
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Cardiomyopathy, Hyperchol... ORPHA:264580
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Eczema, Congenital adrenal hyperplasia, Hydrocele testis ORPHA:96181
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hypomagnesemia, H... ORPHA:89938
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Homozygous Familial Hypercholesterolemia
Hypertension, Mitral regurgitation, Heart murmur, Supravalvular aortic stenosis, Hyperlipidemia, ... ORPHA:391665
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... ORPHA:99413
Turner Syndrome
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... ORPHA:881
Mosaic Monosomy X
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... ORPHA:99228
Monosomy X
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... ORPHA:99226
Somatostatinoma
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... ORPHA:97283
Glucagonoma
Adrenocortical adenoma, Hypercalcemia, Stomatitis, Increased circulating cortisol level, Neoplasm... ORPHA:97280
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Hypercalcemia, Neoplasm of the thymus, Increased circul... ORPHA:97261
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... ORPHA:90673
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Episodic hyperhidrosis, Orthostatic hypotension, Elevated circulating creatinine co... OMIM:223900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Decreased testicular size, Palmoplantar hyperhidrosis, Hypertriglyceridemia OMIM:610644
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Hyperhidrosis OMIM:614653
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased ser... ORPHA:3464
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Hyperphosphatemia, Intracranial hemorrhage, Hyperkalemia, Tubulointerstitial... ORPHA:340
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Giant cell hepatitis OMIM:607765
Porphyria Variegata
Hypertension, Hyponatremia, Inappropriate antidiuretic hormone secretion, Tachycardia, Abnormal c... ORPHA:79473
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Pulmonary arterial hypertension, Primary adrenal insufficiency, Hyper... ORPHA:275761
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Tachycardia ORPHA:485405
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypothyroidism OMIM:610883
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Bronchiectasis, Pulmonary ... ORPHA:980
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Atrio... ORPHA:98855
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Intracranial hemorrhage, Increased circulating ... ORPHA:90795
Marburg Hemorrhagic Fever
Hyperammonemia, Uveitis, Maculopapular exanthema, Capillary leak, Hyperamylasemia, Pericarditis, ... ORPHA:99826
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Cardiomyopathy, Bundle branch block, Pancreatic islet-cell hyperplasia, Cr... ORPHA:373
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia OMIM:613426
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98853
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Familial Dysautonomia
Hypertension, Hyponatremia, Orthostatic hypotension, Tachycardia, Hyperhidrosis, Hypohidrosis ORPHA:1764
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Testicular atrophy, Non-medullary thyroid carcinoma, Atrial fibrillation,... ORPHA:273
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Tricuspid stenosis, Palpitations, Increased serum serotonin, Primary hypercorti... ORPHA:100079
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Bilateral cryptorchidism, Male hypogonadism, Pancreatitis OMIM:619471
Sepsis In Premature Infants
Tachycardia, Bradycardia, Enterocolitis, Elevated circulating C-reactive protein concentration, H... ORPHA:90051
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Decreased HDL cholesterol concentration, Ventricular arrhythmia, Pol... ORPHA:280365
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-... ORPHA:91347
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension, Hyperhidrosis ORPHA:43116
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98863
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Polycystic ovaries, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:79240
Rh Deficiency Syndrome
Reduced haptoglobin level, Tachycardia, Hyperbilirubinemia ORPHA:71275
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Dextrocardia
Abnormal EKG, Pancreatic hypoplasia, T-wave inversion ORPHA:1666
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypocholesterolemia, Cardiomyopathy, Hypothyroidism, Hypoalbumine... OMIM:212065
Vipoma
Adrenocortical adenoma, Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Neoplas... ORPHA:97282
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Tubulointerst... ORPHA:470
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... ORPHA:96180
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Dia... OMIM:229310
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Patterson Pseudoleprechaunism Syndrome
Premature adrenarche, Increased circulating cortisol level, Diabetes mellitus OMIM:169170
Abetalipoproteinemia
Keratoconjunctivitis sicca, Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnorma... ORPHA:14
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Diabetic ketoacidosis, Congestiv... OMIM:601992
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, Tachycardia, ... ORPHA:505248
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Imerslund-Gräsbeck Syndrome
Tachycardia, Angular cheilitis ORPHA:35858
African Trypanosomiasis
Myocarditis, Abnormal prolactin level, Third degree atrioventricular block, Pericarditis, Abnorma... ORPHA:3385
Acute Intermittent Porphyria
Hypertension, Hyponatremia, Tachycardia, Hyperhidrosis ORPHA:79276
Immunodeficiency 47
Hypercholesterolemia, Exocrine pancreatic insufficiency, Decreased circulating copper concentrati... OMIM:300972
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval ORPHA:86309
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Plague
Inflammation of the large intestine, Erythema nodosum, Endocarditis, Lymphadenitis, Chapped lip, ... ORPHA:707
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Tachycardia, Hypotension ORPHA:98849
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Diabetic ketoacidosis, Congestiv... OMIM:302900
Fibrous Dysplasia Of Bone
Hypercalcemia, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol l... ORPHA:249
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycar... ORPHA:404443
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Wolff-Parkinson-White syndrome, Shortened PR ... OMIM:232300
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Chronic rhinitis... ORPHA:79324
Carney Complex
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... ORPHA:1359
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... ORPHA:254892
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Cardiomyopathy, Hyperhidrosis, Arrhythmia ORPHA:2131
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Diabetes insipidus, Bile duct proliferation, Aortic regurgitation, Pulmonary... OMIM:619534
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Aortic regurgitation, Tachycardia, Pulmonic... ORPHA:3384
Alagille Syndrome 1
Hypercholesterolemia, Exocrine pancreatic insufficiency, Papillary thyroid carcinoma, Hypertrigly... OMIM:118450
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Degcags Syndrome
Pneumonia, Rhinitis, Pulmonary arterial hypertension, Hyperbilirubinemia, Tachycardia, Pulmonic s... OMIM:619488
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Cryptorchidism, Elevated amnioti... OMIM:309000
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Abnormal T-wave ORPHA:444072
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia ORPHA:79500
Legius Syndrome
Xanthelasma, Paroxysmal atrial tachycardia, Ovarian neoplasm, Pulmonic stenosis ORPHA:137605
Smith-Lemli-Opitz Syndrome
Eczema, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Recurrent otitis media, Cryptorchidis... OMIM:270400
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral regurgitation, Pulmonary arterial hypertension, Low-output cong... ORPHA:99125
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681

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 Kcne3

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 Kcne3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Functional significance of K+ channel β-subunit KCNE3 in auditory neurons. The Journal of biological chemistry (April 2014) Kcne3tm1(KOMP)Vlcg PMC4059123

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MGI Allele Allele Type Produced
Kcne3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Kcne3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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