Gene Summary

Name:
chaperonin containing TCP1 subunit 3
Synonyms:
Cctg,  TriC-P5,  Tcp1-rs3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Cct3em1(IMPC)Tcp HET Early adult 5.48×10-06
prolonged QRS complex duration Cct3em1(IMPC)Tcp HET   Early adult 4.78×10-05
prolonged QT interval Cct3em1(IMPC)Tcp HET   Early adult 6.42×10-05
preweaning lethality, complete penetrance Cct3em1(IMPC)Tcp HOM   Early adult 0.00
decreased exploration in new environment Cct3em1(IMPC)Tcp HET   Early adult 4.81×10-06
increased startle reflex Cct3em1(IMPC)Tcp HET Early adult 1.00×10-08
embryonic lethality prior to organogenesis Cct3em1(IMPC)Tcp HOM   E9.5 0.00
increased mean platelet volume Cct3em1(IMPC)Tcp HET Early adult 3.06×10-30

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

93 Images

Eye Morphology

Images Slit Lamp

92 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Human diseases caused by Cct3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cct3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Bleeding Disorder, Platelet-Type, 25
Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in... OMIM:620486
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... ORPHA:90647
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,... OMIM:231200
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Myh9-Related Disease
Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epist... ORPHA:182050
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple... ORPHA:398124
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia ORPHA:238459
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis OMIM:616176
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Normochromic micro... OMIM:610198
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Autoimmune Hypoparathyroidism
Irritability, Prolonged QT interval, Depression, Confusion, Ventricular arrhythmia, Laryngeal dys... ORPHA:36913
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio... ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Prolonged QT interval ORPHA:94090
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia OMIM:620475
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Nathalie Syndrome
Abnormal EKG OMIM:255990
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy, Cogniti... ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br... OMIM:115195
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Thrombocytopenia, Anemia ORPHA:231111
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Bernard-Soulier Syndrome
Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr... ORPHA:274
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... ORPHA:57777
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Prolonged QT interval, Action tremor, Normochromic microcytic anem... ORPHA:66634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Cogniti... ORPHA:846
Pseudohypoparathyroidism Type 1B
Depression, Irritability, Laryngeal dystonia, Prolonged QT interval ORPHA:94089
Thrombocytopenia 10
Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:620484
Rett Syndrome
Prolonged QTc interval, Dystonia, Motor deterioration, Abnormal T-wave OMIM:312750
Beta-Thalassemia
Irritability, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemog... ORPHA:848
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Familial Hyperaldosteronism Type Iii
Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage ORPHA:251274
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Arrhythmia, Syncope, ... OMIM:181350
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Stiff-Person Syndrome
Anemia, Depression, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia OMIM:184850
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge... OMIM:313900
Acquired Methemoglobinemia
Tachycardia, Confusion, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Tremor, Hypote... ORPHA:90068
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,... ORPHA:26793
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Depression, Syncope, Palpitation... OMIM:170390
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia OMIM:616737
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Dystonia, Prolonged QT interval OMIM:300352
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Confusion, Hypertension, Hy... ORPHA:31826
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Atrial fibrillation, Splenomegaly, Tachycardia OMIM:613327
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ... OMIM:187900
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Cognitive impairment, Pulmonic stenosis, Increased mean platelet volume, Sp... OMIM:222470
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Dy... OMIM:616878
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Confusion, Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Confusion, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST seg... ORPHA:466650
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment ORPHA:1177
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Attention deficit hyperactivity disorder, Prolonged QT interval, Pulmonary arterial hypertension,... OMIM:620029
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Tremor, Ventricular fibrillation, Palpitations, Shortened PR interval, Sec... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia... OMIM:603585
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... ORPHA:439
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Bradyphrenia, Short attention span, Bundle branch block ORPHA:589821
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Cognitive impairment OMIM:616479
Syndromic Diarrhea
Aortic regurgitation, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lym... ORPHA:84064
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Pseudohypoparathyroidism Type 1A
Irritability, Prolonged QT interval, Depression, Confusion, Hypertension, Abnormal platelet funct... ORPHA:79443
Gitelman Syndrome
Prolonged QT interval, Iron deficiency anemia, Prominent U wave, Low-to-normal blood pressure, ST... ORPHA:358
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the skin, Thrombocytopen... OMIM:617718
Pseudohypoparathyroidism Type 1C
Irritability, Prolonged QT interval, Depression, Confusion, Laryngeal dystonia ORPHA:79444
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh... ORPHA:1880
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Dpagt1-Cdg
Emotional blunting, Anemia, Prolonged QT interval, Tremor, Intracranial hemorrhage ORPHA:86309
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Methemoglobinemia ORPHA:621
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Depression, Right bundle branc... ORPHA:70591
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai... OMIM:301000
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Hypot... OMIM:608643
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Emotional lability, Prolonged QT interval ORPHA:529962
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Dominant Beta-Thalassemia
Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... ORPHA:231214
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment ORPHA:309246
Fabry Disease
Congestive heart failure, Anemia, Angina pectoris, Depression, Hypertension, Transient ischemic a... ORPHA:324
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... OMIM:612561
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Tremor, Premature ventricu... ORPHA:466677
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem... ORPHA:99827
Myotonic Dystrophy 2
Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction OMIM:602668
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Pulmonary arterial hy... ORPHA:231222
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Polysplenia ORPHA:373
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation OMIM:619576
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Eisenmenger Syndrome
Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave... ORPHA:97214
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block, Intention tremor OMIM:619322
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec... ORPHA:93672
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Lead Poisoning
Abnormal T cell morphology, Anemia, Memory impairment, Depression, Hypertension, Cognitive impair... ORPHA:330015
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response, Mitral regurgitation ORPHA:309155
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Al Amyloidosis
Gastrointestinal hemorrhage, Anemia, Howell-Jolly bodies, Hypertrophic cardiomyopathy, Jaw claudi... ORPHA:85443
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:99228
Monosomy X
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:99226
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Arrhythmia, Myocardial infar... ORPHA:500
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Confusion, Hypotension, ... ORPHA:542323
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dopamine Beta-Hydroxylase Deficiency
Anemia, Orthostatic hypotension, Orthostatic syncope, Syncope, Abnormal EKG ORPHA:230
Sandhoff Disease
Hepatosplenomegaly, Orthostatic hypotension, Progressive psychomotor deterioration, Exaggerated s... OMIM:268800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Short attention span, Exaggerated startle response OMIM:617864
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr... OMIM:614008
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Tay-Sachs Disease
Memory impairment, Depression, Tremor, Short attention span, Exaggerated startle response, Laryng... ORPHA:845
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Leopard Syndrome 1
Pulmonic stenosis, Bundle branch block, Third degree atrioventricular block, Hypertrophic cardiom... OMIM:151100
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Dystonia, Thrombocytopenia, Exaggerated startle response OMIM:620423
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosi... OMIM:617506
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Dextrocardia
T-wave inversion, Abnormality of the spleen, Abnormal EKG ORPHA:1666
Multiple Endocrine Neoplasia Type 1
Hematemesis, Melena, Depression, Confusion, Hypertension, Short attention span, Shortened QT inte... ORPHA:652
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Congenital Sialidosis Type 2
Hepatosplenomegaly, Abnormal EKG, Telangiectasia ORPHA:93400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Depression, Anemia, Abnormal hemoglobin ORPHA:847
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Dilated cardiomyopathy, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy OMIM:617403
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Alkaptonuria
Myocardial infarction, Hypertension, Aortic valve stenosis, Mitral stenosis, Mitral regurgitation... ORPHA:56
African Trypanosomiasis
Myocarditis, Congestive heart failure, Irritability, Tremor, Pericarditis, Hepatosplenomegaly, Sp... ORPHA:3385
Cutis Laxa, Autosomal Recessive, Type Iic
Right bundle branch block, Aortic regurgitation, Tricuspid regurgitation OMIM:617402
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal platelet function, Hypertrophic cardiomyopathy, Abnorm... ORPHA:648
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Pulmonic stenosis, Dystonia, Anemia, Exaggerated startle response ORPHA:438213
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Cct3

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 Cct3.

No publications found that use IMPC mice or data for Cct3.

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MGI Allele Allele Type Produced
Cct3tm119383(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cct3em1(IMPC)Tcp Exon Deletion Mice

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