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Gene: Calm1 MGI:88251

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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:
calmodulin 1
Synonyms:
N/A

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 Calm1 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 Calm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247

The table below shows human diseases predicted to be associated to Calm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
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
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... ORPHA:45452
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Narcolepsy Type 1
Obesity, Transient global amnesia, Syncope ORPHA:2073
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Tachycardia, Agitation, Increased body weight ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... ORPHA:276556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Schizophrenia 15
Hyperactivity OMIM:613950
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... ORPHA:276575
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... ORPHA:276580
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Syncope, Large for gestational age, Agitation, Palpitations, Polyphagi... ORPHA:324575
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity, Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity, Hypertension OMIM:605572
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... OMIM:616201
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Hypertension, Polyphagia, Obesity ORPHA:71529
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Dysphagia OMIM:255100
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Coproporphyria, Hereditary
Tachycardia, Hypertension, Anxiety OMIM:121300
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Obesity Due To Sim1 Deficiency
Hypotension, Cognitive impairment, Polyphagia, Attention deficit hyperactivity disorder, Obesity,... ORPHA:369873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Myocarditis, Reduced left ventricular ejection ... ORPHA:563
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Obesity, Hypertension OMIM:608320
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Anxiety, ... OMIM:613670
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Abnormal c... ORPHA:90064
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Motor deterioration, Dementia, Emotional lability, Anxiety, Dysphagia, Tach... ORPHA:79264
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Variegate Porphyria
Tachycardia OMIM:176200
Carcinoma Of Esophagus
Obesity, Weight loss, Dysphagia ORPHA:70482
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Memory impairment, Tachycardia OMIM:619737
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Weight loss OMIM:188580
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight OMIM:620065
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder, Anxiety OMIM:618725
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Failure to thrive, Attention deficit hyperactivity disorder, Skin-picking, Nail-bi... ORPHA:485405
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas, Anxiety OMIM:103200
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Aggressive behavior, Small for gestational age, Failure to thrive, Anxiety OMIM:609425
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Abnormal aggressive, ... ORPHA:3077
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... OMIM:612158
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Agitation, Progressive neurologic deterioration, Tachycardia, Increase... ORPHA:263455
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... OMIM:604169
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Bulimia, Aortic regurgitation, Mitral regurgitation, Overweight,... OMIM:614651
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Acquired Methemoglobinemia
Syncope, Arrhythmia, Palpitations, Anxiety, Tachycardia ORPHA:464453
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Interphalangeal thumb joint contracture, Hypertension, Agitation, Tachycardia OMIM:613870
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inguinal hernia, Failure to thrive OMIM:618362
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa... OMIM:613424
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity OMIM:301013
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia... ORPHA:26793
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Intellectual Developmental Disorder, Autosomal Recessive 46
Aggressive behavior, Self-injurious behavior, Large for gestational age, Agitation OMIM:616116
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Snakebite Envenomation
Neuromuscular dysphagia, Hypotension, Cerebral ischemia, Pseudobulbar paralysis, Cardiogenic shoc... ORPHA:449285
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome OMIM:617182
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Summitt Syndrome
Obesity OMIM:272350
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia ORPHA:329249
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... OMIM:212138
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Leptin Receptor Deficiency
Aggressive behavior, Emotional lability, Polyphagia, Abnormal eating behavior, Obesity OMIM:614963
Paragangliomas 3
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... OMIM:605373
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... ORPHA:263297
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Cognitive impairment, Severely reduc... OMIM:300257
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Polyphagia, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Polyphagia, Obesity ORPHA:71526
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Obesity, Polyphagia, Self-mutilation OMIM:616521
Serotonin Syndrome
Hypotension, Hypertension, Agitation, Anxiety, Mental deterioration, Irritability, Restlessness, ... ORPHA:43116
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Small for gestational ag... ORPHA:860
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Congestive heart failure, Polyphagia, Irritability OMIM:275000
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachycardia ORPHA:264675
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity, Tachycardia OMIM:609152
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Obesity, Congestive heart failure, Hypertension OMIM:615703
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Polyphagia, Happy demeanor ORPHA:411515
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Failure to thrive, Prolonged QT interval, Lipodystrophy, Dysphagia, Bradycar... OMIM:613327
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Paragangliomas 1
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... OMIM:168000
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Irritabili... OMIM:261600
Central Precocious Puberty
Overgrowth, Obesity, Increased body weight ORPHA:759
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro... OMIM:613690
Tetanus
Tachycardia, Bradycardia, Hypertension, Dysphagia ORPHA:3299
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Juvenile Huntington Disease
Hyperactivity, Irritability, Dementia, Weight loss ORPHA:248111
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... OMIM:619827
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Arrhythmia, Obesity OMIM:600430
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Stiff-Person Syndrome
Tachycardia, Agoraphobia, Hypertension, Anxiety OMIM:184850
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Facial telangiectasia, Contracture of the proximal interphala... OMIM:620141
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia OMIM:614962
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia ORPHA:368
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Ataxia-Oculomotor Apraxia Type 4
Obesity, Cognitive impairment, Telangiectasia ORPHA:459033
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Graft Versus Host Disease
Fasciitis, Lipodystrophy, Failure to thrive, Dupuytren contracture, Irritability, Tachycardia ORPHA:39812
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Increased body weight ORPHA:589905
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Supraventricular tachycardia with an accessory connection mediated pathway, ... ORPHA:404443
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... ORPHA:542323
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Heart murmur, Attention deficit hyperactivity disorder, Anxiety, Slender build, Pu... OMIM:617600
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Failure to thrive, Ventricul... OMIM:300952
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia OMIM:229700
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Myotonic Dystrophy 2
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia OMIM:602668
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Bundle branch block, Dysphagia, Bradyphrenia, Obesity, Firs... ORPHA:589821
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, Euphoria, Alco... ORPHA:31826
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
Tularemia
Tachycardia ORPHA:3392
Hereditary Coproporphyria
Atypical scarring of skin, Tachycardia ORPHA:79273
Double Outlet Right Ventricle
Failure to thrive, Pulmonic stenosis, Tachycardia, Heart murmur ORPHA:3426
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Gitelman Syndrome
Hypotension, Failure to thrive, Prolonged QT interval, Ventricular tachycardia, Palpitations, Sal... OMIM:263800
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... OMIM:613426
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Attention deficit hyperactivity disorder, Increased body weight OMIM:274300
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Insulinoma
Polyphagia, Palpitations, Anxiety, Transient global amnesia, Increased body weight ORPHA:97279
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... ORPHA:98855
Acute Intermittent Porphyria
Memory impairment, Anxiety, Pseudobulbar paralysis, Hypertension, Mental deterioration, Restlessn... ORPHA:79276
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... OMIM:616878
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... ORPHA:261
Porphyria Variegata
Tachycardia, Scarring, Hypertension, Anxiety ORPHA:79473
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Hypertension, Emotional lability, Increased body weight OMIM:615830
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ventricular tachycardia, Syncope, Dilated cardiomyopathy OMIM:615821
Sepsis In Premature Infants
Hypotension, Decreased body weight, Small for gestational age, Bradycardia, Tachycardia ORPHA:90051
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Anxiety, Hypertension, Agitation, Hypertensive crisis, Arrhythmi... ORPHA:94093
Pediatric-Onset Graves Disease
Hyperactivity, Sinus tachycardia, Congestive heart failure, Hypertension, Emotional lability, Fai... ORPHA:525731
Porphyria, Acute Intermittent
Tachycardia, Hypertension, Anxiety OMIM:176000
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Imerslund-Gräsbeck Syndrome
Failure to thrive, Tachycardia, Weight loss ORPHA:35858
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular tachycardia, Arrhythmia, Irritability, Cardiomyopathy ORPHA:159
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Obesity, Self-m... ORPHA:412035
Halothane Hepatitis
Obesity OMIM:234350
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Suicidal ideation, Hypertension, Obesity, Memory impairment ORPHA:77296
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Aggressive behavior, Irritability, Dilated cardiomyopathy OMIM:618321
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... ORPHA:98863
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Relapsing Fever
Hypotension, Epistaxis, Tachycardia ORPHA:91547
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Cognitive impairment OMIM:612463
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Wagro Syndrome
Aggressive behavior, Hypertension, Agitation, Emotional lability, Polyphagia, Anxiety, Low frustr... OMIM:612469
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Atrial Standstill 2
Scarring, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wav... OMIM:615745
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Intracranial hemorrhage, Agitation, Internal hemorrhage, Shoc... ORPHA:340
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Self-mutilation, Increased body weight OMIM:182290
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Weight loss ORPHA:71273
Paragangliomas 4
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... OMIM:115310
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia ORPHA:348
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Skin-picking, Mental deterioration, Low frustration tolerance... ORPHA:163681
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Pulmonic stenosis OMIM:619239
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Bardet-Biedl Syndrome 3
Obesity, Tricuspid regurgitation OMIM:600151
Bardet-Biedl Syndrome 9
Obesity, Polyphagia, Polydipsia, Truncal obesity OMIM:615986
Bacterial Toxic-Shock Syndrome
Hypotension, Cellulitis, Fasciitis, Shock, Capillary leak, Myocarditis, Tachycardia ORPHA:36234
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171300
Cholera
Hypotension, Hypovolemic shock, Irritability, Tachycardia ORPHA:173
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Flexion contracture, Corneal scarring, Hypertension, Bradycardia, Tachycardia OMIM:614653
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Syncope, Tachycardia, Weight loss ORPHA:98849
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Ventricular arrhythmia, Supraventricul... ORPHA:280365
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Emotional lability OMIM:223900
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia OMIM:617885
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Dilated cardiomyopathy, Aborted sudden car... OMIM:614921
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Hypertension, Increased body weight OMIM:615954
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Adrenocortical Carcinoma
Weight loss, Hypertension, Panic attack, Palpitations, Anxiety, Irritability, Increased body weight ORPHA:1501
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... ORPHA:99827
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Anxiety, Irrit... ORPHA:36913
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy OMIM:600996
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Obesity, Polyphagia, Emotional lability ORPHA:179494
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Aggressive behavior, Self-injurious behavior, Increased body weight OMIM:300860
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Flexion contracture, Hernia, Congestive heart failure, Hypertrop... ORPHA:505248
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Supraventricular tachycardia, Ventricular tachycardia, High-ou... ORPHA:423
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia ORPHA:254534
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Cognitive impairment, Hypertension, Emotional lability, Dorsocervical fat pad, Memory impairment,... ORPHA:189427
Eisenmenger Syndrome
Pulmonary arterial hypertension, Supraventricular tachycardia, Right bundle branch block, Heart m... ORPHA:97214
Autosomal Recessive Spastic Paraplegia Type 11
Dementia, Emotional lability, Overweight, Dysphagia, Orthostatic hypotension, Mental deterioratio... ORPHA:2822
Primary Pigmented Nodular Adrenocortical Disease
Memory impairment, Cognitive impairment, Abnormal subcutaneous fat tissue distribution, Hypertens... ORPHA:189439
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... ORPHA:980
Wilson Disease
Failure to thrive, Aggressive behavior, Weight loss, Increased body weight ORPHA:905
Ataxia-Oculomotor Apraxia 4
Obesity, Cognitive impairment OMIM:616267
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Left bundle branch block, Ventricular bigeminy, Arrhythmia OMIM:610131
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Premature ventricular contraction, Contracture of the distal interphalan... OMIM:617072
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia OMIM:617877
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Wolff-Parkinson-White syndrome, Hypertension, Inguinal hernia, Shortened PR... OMIM:614947
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Obesity, Hypertension OMIM:618620
Perrault Syndrome 4
Obesity, Cognitive impairment, Disproportionate tall stature OMIM:615300
Autosomal Dominant Progressive External Ophthalmoplegia
Cognitive impairment, Reduced left ventricular ejection fraction, Anxiety, Ventricular arrhythmia... ORPHA:254892
Ogden Syndrome
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Minimal subcut... OMIM:300855
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Marburg Hemorrhagic Fever
Hypotension, Aggressive behavior, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillar... ORPHA:99826
Sotos Syndrome
Aggressive behavior, Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Increase... OMIM:117550
1P21.3 Microdeletion Syndrome
Aggressive behavior, Self-injurious behavior, Abnormal eating behavior, Obesity, Self-mutilation ORPHA:293948
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Hypertension, Emotional lability, Obesity, Abdominal obesity OMIM:219090
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Obesity, Tachycardia ORPHA:1772
Degcags Syndrome
Pulmonary arterial hypertension, Small for gestational age, Choking episodes, Failure to thrive, ... OMIM:619488
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Cognitive impairment, Failure to thrive, Impulsivity, Polyphagia, Skin-picki... ORPHA:398069
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity, Low pulse pressure ORPHA:86816
Mirizzi Syndrome
Tachycardia ORPHA:521219
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Legius Syndrome
Multiple lipomas, Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Attention d... ORPHA:137605
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Aggressive behavior, Cognitive impairment, Dilated cardiomyopathy, ... ORPHA:273
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Cushing Disease
Memory impairment, Suicidal ideation, Capillary fragility, Hypertension, Dementia, Dorsocervical ... ORPHA:96253
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Weight loss ORPHA:99819
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Plague
Hypotension, Arrhythmia, Anxiety, Hematemesis, Tachycardia ORPHA:707
Gaisböck Syndrome
Elevated diastolic blood pressure, Hypovolemia, Angina pectoris, Hypertension, Myocardial infarct... ORPHA:90041
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Failure to thrive, Increased body weight ORPHA:264580
Sarcoidosis
Abnormal cardiac ventricular function, Weight loss, Scarring, Heart block, Ventricular tachycardi... ORPHA:797
Scalp-Ear-Nipple Syndrome
Hypertension, Supraventricular tachycardia, Congestive heart failure, Multiple lipomas OMIM:181270
Tsh-Secreting Pituitary Adenoma
Hypotension, Weight loss, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart f... ORPHA:91347
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage, Increased body weight ORPHA:244242
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... OMIM:620066
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Pulmonic stenosis, Tachycardia ORPHA:3384
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Decreased body weight, Hypertension, Premature ventricular contr... OMIM:602535
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Weight loss, Suicidal ideation, Anxiety, Capillary fragility, Hypertension, De... ORPHA:99889
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arr... OMIM:309801
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight ORPHA:2298
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Tachycardia OMIM:618280
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Right ventricular failure, Mitral regurgitation, Low-output cong... ORPHA:99125
Carney Complex
Hypertension, Congestive heart failure, Dorsocervical fat pad, Tall stature, Abdominal obesity, I... ORPHA:1359

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 Calm1

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 Calm1.

No publications found that use IMPC mice or data for Calm1.

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MGI Allele Allele Type Produced
Calm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calm1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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