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Gene: Gnb2 MGI:95784

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Gene Summary

Name:
guanine nucleotide binding protein (G protein), beta 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Gnb2em1(IMPC)J HOM Early adult 1.82×10-13
increased heart rate Gnb2em1(IMPC)J HOM Early adult 5.81×10-08
decreased grip strength Gnb2em1(IMPC)J HOM Early adult 2.91×10-07
decreased thigmotaxis Gnb2em1(IMPC)J HOM Early adult 1.39×10-07
decreased circulating serum albumin level Gnb2em1(IMPC)J HOM Early adult 3.38×10-05
increased vertical activity Gnb2em1(IMPC)J HOM Early adult 2.07×10-14
abnormal cholesterol homeostasis Gnb2em1(IMPC)J HOM Early adult 8.84×10-11
shortened RR interval Gnb2em1(IMPC)J HOM Early adult 2.41×10-06
hyperactivity Gnb2em1(IMPC)J HOM Early adult 0.00
abnormal retina morphology Gnb2em1(IMPC)J HOM Early adult 1.79×10-05
increased leukocyte cell number Gnb2em1(IMPC)J HOM Early adult 2.98×10-34
decreased circulating total protein level Gnb2em1(IMPC)J HOM Early adult 6.22×10-07
shortened ST segment Gnb2em1(IMPC)J HOM   Early adult 7.30×10-06
decreased blood urea nitrogen level Gnb2em1(IMPC)J HOM Early adult 1.58×10-06

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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

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Gnb2 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 Gnb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Broad-based gait, Impulsivity, Portal hypertension, Hypomagnesemia, Bruxism, He... OMIM:619503

The table below shows human diseases predicted to be associated to Gnb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Dysphagia, L... ORPHA:94125
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... OMIM:255100
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Ménétrier Disease
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei... ORPHA:2494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Thrombocytopenia, Splenomegaly, Increas... OMIM:603553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypertension, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Hyper... ORPHA:276556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, H... ORPHA:2070
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia... OMIM:209950
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Hypoprotein... ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis... OMIM:226300
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia ORPHA:94124
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Hyper... ORPHA:276575
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hypoalbum... OMIM:618805
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... OMIM:616050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia OMIM:607250
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Coproporphyria, Hereditary
Splenomegaly, Hypertension, Tachycardia, Depression OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Schizophrenia 15
Hyperactivity OMIM:613950
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Agitation, Palpitations, Hypertrophic cardiomyopathy, Polyphagia, Increased... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Polyp... ORPHA:324575
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Leukopeni... ORPHA:507
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation... ORPHA:79264
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Leber Hereditary Optic Neuropathy
Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuo... ORPHA:104
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia,... ORPHA:49827
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat... OMIM:615895
Congenital Enterovirus Infection
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperammonemia, Irri... ORPHA:292
Alg6-Cdg
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, Retinal deg... ORPHA:79320
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Variegate Porphyria
Tachycardia OMIM:176200
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... ORPHA:85443
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated... OMIM:310300
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
High Altitude Pulmonary Edema
Leukocytosis, Tachycardia, Anorexia ORPHA:330012
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Agitation ORPHA:276608
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Scorpion Envenomation
Restlessness, Bundle branch block, Tachycardia, Ataxia, Increased circulating NT-proBNP concentra... ORPHA:466677
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... OMIM:212138
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopat... ORPHA:1177
Diarrhea 13
Hypoalbuminemia OMIM:620357
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,... ORPHA:368
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul... ORPHA:103910
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot... ORPHA:79155
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Portal hypertension, Chorioretinal atrophy, Optic atrophy, Hepato... OMIM:619487
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysph... OMIM:616878
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:64743
Abetalipoproteinemia
Abnormality of retinal pigmentation, Broad-based gait, Reticulocytosis, Ataxia, Decreased HDL cho... ORPHA:14
Nathalie Syndrome
Abnormal EKG OMIM:255990
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Dysph... ORPHA:3299
Tularemia
Brain abscess, Tachycardia, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... OMIM:171420
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Congestive heart failure, Thrombocytopenia, Optic atrophy, Splenomegaly, Leuko... OMIM:617303
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Gitelman Syndrome
Prolonged QT interval, Salt craving, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-... ORPHA:358
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:158048
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Increased circulating thyroglobulin level OMIM:609152
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Cln3 Disease
Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depre... ORPHA:228346
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level ORPHA:264675
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase... ORPHA:90041
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Agitation OMIM:613870
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Hypoalbuminemia, Constrictiv... ORPHA:67
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking ORPHA:485405
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations OMIM:188580
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... ORPHA:3077
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Anemia ORPHA:79273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati... OMIM:600649
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Abscess, Myocarditis, Ele... ORPHA:36234
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... ORPHA:505248
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Tachycardia, Optic disc pallor OMIM:619737
Reni Syndrome
Lymphopenia, Ataxia, Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... ORPHA:466650
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Abnorm... ORPHA:99826
Stiff-Person Syndrome
Hypertension, Tachycardia, Anemia, Depression OMIM:184850
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Difficulty ... ORPHA:1667
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Mercury Poisoning
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension ORPHA:330021
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... ORPHA:848
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... ORPHA:540
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Ma... OMIM:609049
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Sub... ORPHA:509
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Mpi-Cdg
Gastrointestinal hemorrhage, Hypoalbuminemia, Portal hypertension ORPHA:79319
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Depres... ORPHA:89842
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatosplenomegaly, Hypoal... ORPHA:367
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Ataxia, Dysmetria, Steatorrhea, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemi... OMIM:212065
Carnitine-Acylcarnitine Translocase Deficiency
Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Ventri... ORPHA:159
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Tachycardia, Agitation, Abnormal circulating fatty-acid concentration ORPHA:263455
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Irri... OMIM:618321
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi... ORPHA:90051
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia OMIM:254900
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... OMIM:310200
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Hypokalemia OMIM:613239
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... ORPHA:31826
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Serotonin Syndrome
Restlessness, Tachycardia, Irritability, Hypertension, Agitation, Hypotension ORPHA:43116
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia, Anemia ORPHA:139411
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Pheochromocytoma
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... OMIM:171300
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circ... OMIM:263800
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Hypertrophic ca... OMIM:618329
Autoimmune Hypoparathyroidism
Prolonged QT interval, Depression, Abnormal left ventricular function, Irritability, Hypocalcemic... ORPHA:36913
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbu... OMIM:251880
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Increased circu... OMIM:619991
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated circulating ... ORPHA:340
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Anemia ORPHA:79473
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Irritability, Hypovolemic shock, Hyp... ORPHA:173
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Irritability, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia ORPHA:348
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia OMIM:229700
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Graft Versus Host Disease
Tachycardia, Hepatosplenomegaly, Irritability, Hemophagocytosis, Hyperbilirubinemia ORPHA:39812
Congenital Fibrinogen Deficiency
Tachycardia, Splenic rupture, Internal hemorrhage ORPHA:335
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Xfe Progeroid Syndrome
Hypertension, Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels OMIM:610965
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98855
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Hypertension, Gait dis... ORPHA:1764
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... OMIM:615673
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... OMIM:620141
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... ORPHA:542306
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Premature ventricula... ORPHA:423
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... ORPHA:100924
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ... ORPHA:480864
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Inability to walk, Right bundle... ORPHA:268
Alg12-Cdg
Hyponatremia, Retinal detachment, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thromb... ORPHA:79324
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... OMIM:277900
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98853
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Tachycardia, Depression, Hypertension, Pseudobulbar paralysis ORPHA:79276
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalb... OMIM:222470
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... OMIM:614921
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... ORPHA:231625
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia, Anorexia ORPHA:521219
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Depression OMIM:176000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... OMIM:619705
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia OMIM:235510
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... ORPHA:230
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis ORPHA:3426
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Hematochezia, Melena, Intestinal bleeding, Hypoal... ORPHA:79076
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism ORPHA:567546
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Neutropenia in presen... ORPHA:525731
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... OMIM:617156
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Congestive heart failure OMIM:275000
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Ataxia, Optic atrophy, Dysmetria, Telangiectasia, Hepatosp... ORPHA:93400
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Rett Syndrome
Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Abnormal T-wave, Prolonged QTc interval, Ster... OMIM:312750
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Transient ischemic ... ORPHA:2929
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... OMIM:619381
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis OMIM:615508
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Friedreich Ataxia
Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ataxia, Hypertro... OMIM:229300
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Ab... ORPHA:760
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Portal hypertension, Spider hemangioma, Congestive heart failure,... ORPHA:171
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... ORPHA:186
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Galloway-Mowat Syndrome 3
Hypertension, Hypoalbuminemia OMIM:617729
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Anemia ORPHA:71273
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Smith-Lemli-Opitz Syndrome
Hyperactivity, Aggressive behavior, Splenomegaly, Self-mutilation, Hypertension, Hypoalbuminemia,... OMIM:270400
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... ORPHA:251274
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No... OMIM:618775
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... OMIM:617600
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
Galloway-Mowat Syndrome 1
Optic atrophy, Ataxia, Hypoalbuminemia OMIM:251300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Leukopen... ORPHA:2298
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Hypertensi... ORPHA:449291
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thromboc... OMIM:617052
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia... OMIM:613658
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Elevated circulating creatine kinase concentration, Premature ventricular contraction OMIM:617072
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... OMIM:612561
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Ogden Syndrome
Premature atrial contractions, Polycythemia, Ventricular tachycardia, Dysphagia, Premature ventri... OMIM:300855
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Degcags Syndrome
Tachycardia, Pancytopenia, Oral-pharyngeal dysphagia, Congenital hypoplastic anemia, Hepatospleno... OMIM:619488
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Elevated circulating creatine kinase concentration, Ventricular bigeminy, Left bundle... OMIM:610131
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Dilated cardiomy... ORPHA:254892
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein concentration,... OMIM:615688
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Cardiac conduction... ORPHA:2131
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Retinal degeneration, Acanthocytosis, Optic atrophy, Phonic tics... OMIM:234200
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Bradycardia, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal... ORPHA:90674
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... ORPHA:280365
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Plague
Tachycardia, Anorexia, Hematemesis, Splenomegaly, Unsteady gait, Depression, Hypotension, Arrhythmia ORPHA:707
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Target cells, Inc... OMIM:603903
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Optic atrophy, Depression, Self-injurious behavior, Anemia ORPHA:847
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
African Trypanosomiasis
Abnormal EKG, Pericarditis, Papilledema, Akinesia, Aggressive behavior, Myocarditis, Congestive h... ORPHA:3385
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... OMIM:170390
Dextrocardia
Abnormal EKG, Abnormality of the spleen, T-wave inversion ORPHA:1666
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Portal hypertension, Hyper... ORPHA:797
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Xanthelasma, Pulmonic ste... ORPHA:137605
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait OMIM:207800
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Sel... ORPHA:2388
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen... OMIM:260400
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... OMIM:301040
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Hypoplasia of the thymus, Abnormal heart valve physiology, Pul... ORPHA:3384
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Pmm2-Cdg
Pericarditis, Angina pectoris, Ataxia, Reduced thyroxin-binding globulin, Intracranial hemorrhage... ORPHA:79318
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia OMIM:618280
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Hyperlipidemia OMIM:241080
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Hypokalemia, Palpitations, H... ORPHA:91347
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Hyperlipidemia ORPHA:3464
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure OMIM:601992
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Optic nerve hypoplasia, Premature ventricular cont... OMIM:602535
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Broad-based gait, Impulsivity, Portal hypertension, Hypomagnesemia, Bruxism, He... OMIM:619503

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 Gnb2

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 Gnb2.

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

Title Journal IMPC Allele PubMed ID
Knockout mouse models reveal the contributions of G protein subunits to complement C5a receptor-mediated chemotaxis. The Journal of biological chemistry (April 2020) Gnb2em1(IMPC)J 32332099

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gnb2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gnb2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gnb2em1(IMPC)J Exon Deletion Mice

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