banner
Genes Phenotypes Help, News, Blog

Gene: Cct3 MGI:104708

Log in to follow

Gene Summary

Name:
chaperonin containing Tcp1, subunit 3 (gamma)
Synonyms:
Cctg,  TriC-P5,  Tcp1-rs3

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
prolonged QT interval Cct3em1(IMPC)Tcp HET   Early adult 6.42×10-05
increased mean platelet volume Cct3em1(IMPC)Tcp HET Early adult 3.06×10-30
preweaning lethality, complete penetrance Cct3em1(IMPC)Tcp HOM   Early adult 0.00
decreased exploration in new environment Cct3em1(IMPC)Tcp HET   Early adult 6.19×10-06
increased startle reflex Cct3em1(IMPC)Tcp HET Early adult 6.52×10-09
prolonged QRS complex duration Cct3em1(IMPC)Tcp HET   Early adult 4.81×10-05
embryonic lethality prior to organogenesis Cct3em1(IMPC)Tcp HOM   E9.5 0.00
decreased mean corpuscular hemoglobin Cct3em1(IMPC)Tcp HET Early adult 5.48×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

View images
Eye Morphology

Images Slit Lamp

92 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

2 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View 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
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume OMIM:615193
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:155100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... ORPHA:90647
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... OMIM:613697
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bernard-Soulier Syndrome
Macrothrombocytopenia, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia,... OMIM:231200
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... OMIM:613694
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Myocardial infarction, Giant platelets, Congenital thrombocytop... ORPHA:182050
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia ORPHA:238459
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... ORPHA:398124
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Normochromic microcytic anemia, Dilated cardiomyopathy, Congestive heart fa... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segmen... ORPHA:90065
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Alpha-Thalassemia
Anemia, Cognitive impairment, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly,... ORPHA:846
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Laryngeal dyst... ORPHA:36913
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, 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
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Nathalie Syndrome
Abnormal EKG OMIM:255990
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Cognitive impairment, Right bundle branch block, Left ventricular systolic dysfunction, Dilated c... ORPHA:206559
Drug-Induced Lupus Erythematosus
Pericarditis, Thrombocytopenia, Prolonged QTc interval, Anemia ORPHA:231111
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Spontaneous, recurrent epistaxis, Gastrointestinal hemor... ORPHA:274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Prolonged ... ORPHA:66634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Rett Syndrome
Abnormal T-wave, Motor deterioration, Dystonia, Prolonged QTc interval OMIM:312750
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Beta-Thalassemia
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Irritability, Abnormal hemoglobin, Splenom... ORPHA:848
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... OMIM:181350
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... ORPHA:563
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Familial Hyperaldosteronism Type Iii
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Ang... ORPHA:85451
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Laryngeal dystonia ORPHA:94090
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Emotional lability OMIM:617028
Thrombocytopenia 1
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Hypertension, Anxiety, Agoraphobia, Opisthotonus, Tachycardia OMIM:184850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... ORPHA:26793
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... ORPHA:263297
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Acquired Methemoglobinemia
Anxiety, Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... OMIM:115197
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Aggressive behavior, Dystonia OMIM:300352
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Epistaxis, Increased RB... OMIM:187900
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... OMIM:170390
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia, Giant platelets OMIM:611209
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Dystonia, Abnormal EKG ORPHA:480864
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Trichohepatoenteric Syndrome 1
Splenomegaly, Cognitive impairment, Pulmonic stenosis, Aortic regurgitation, Thrombocytosis, Incr... OMIM:222470
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Euphoria, Tach... ORPHA:31826
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Dystoni... OMIM:616878
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Prolonged QT interval, Bradycardia, Tachycardia, Atrial fibrillation OMIM:613327
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Irritability, Laryngeal dystonia, Anxiety ORPHA:94089
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Polycythemia ORPHA:90042
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Tremor, Palpitat... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Aortic regurgita... OMIM:603585
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Cognitive impairment, Abnormal EKG ORPHA:1177
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Lathosterolosis
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... OMIM:607330
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Aortic regurgitation, Thrombocytosis, Increa... ORPHA:84064
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Cognitive impairment OMIM:616479
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy ORPHA:71212
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... ORPHA:99104
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Prolonged QT interval, Intention tremor OMIM:620029
Gitelman Syndrome
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... ORPHA:358
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Bradyphrenia, First degree atrioventricular block ORPHA:589821
Pseudohypoparathyroidism Type 1A
Abnormal platelet function, Choreoathetosis, Hypertension, Prolonged QT interval, Laryngeal dysto... ORPHA:79443
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Thrombocytopenia, Decreased me... OMIM:617718
Dpagt1-Cdg
Anemia, Aggressive behavior, Head-banging, Emotional blunting, Intracranial hemorrhage, Prolonged... ORPHA:86309
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ... ORPHA:466650
Gitelman Syndrome
Hypotension, Prolonged QT interval, Ventricular tachycardia, Palpitations OMIM:263800
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Irritability, Laryngeal dystonia, Anxiety ORPHA:79444
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... ORPHA:1880
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
17Q24.2 Microdeletion Syndrome
Aggressive behavior, Emotional lability, Prolonged QT interval, Anxiety, Pulmonic stenosis ORPHA:529962
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ... OMIM:301000
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathet... OMIM:608643
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia OMIM:272800
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Dilated... ORPHA:231226
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Fabry Disease
Anemia, Cognitive impairment, Mucosal telangiectasiae, Anxiety, Transient ischemic attack, Bundle... ORPHA:324
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenome... ORPHA:231222
Myotonic Dystrophy 2
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia OMIM:602668
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... ORPHA:99827
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Polysplenia, Prolonged QT interval, Splenomegaly, Cardiomyopathy ORPHA:373
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Left bundle branch block, Ventricular bigeminy, Arrhythmia OMIM:610131
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mitral regurgitation, Right bundle branch block, Tricuspid regurgitation OMIM:619576
Juvenile Dermatomyositis
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... ORPHA:93672
Eisenmenger Syndrome
Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, Hepatojugular... ORPHA:97214
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... ORPHA:437572
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Intention tremor OMIM:619322
Al Amyloidosis
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Hypertroph... ORPHA:85443
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... ORPHA:3093
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia, Dementia OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral regurgitation, Hepatosplenomegaly ORPHA:309155
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG ORPHA:268
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Persistence of hemoglobin F OMIM:617101
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infarction, Arrhythmia, Pulmonic ste... ORPHA:500
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... ORPHA:2299
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Prolonged QT interval, Hypertension, Anxiety ORPHA:99413
Turner Syndrome
Myocardial infarction, Prolonged QT interval, Hypertension, Anxiety ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension, Anxiety ORPHA:99228
Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension, Anxiety ORPHA:99226
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dopamine Beta-Hydroxylase Deficiency
Anemia, Abnormal EKG, Syncope, Orthostatic hypotension, Orthostatic syncope ORPHA:230
Lead Poisoning
Abnormal T cell morphology, Anemia, Cognitive impairment, Hypertension, Imbalanced hemoglobin syn... ORPHA:330015
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Progressive psychomotor deterioration, Hep... OMIM:268800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability OMIM:616881
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Right bundle branch block, Mitral regurgitation, Anxiety, Pulmonic stenosis, Tricuspid regurgitation OMIM:617506
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... OMIM:614008
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Irritability OMIM:617864
Dextrocardia
T-wave inversion, Abnormality of the spleen, Abnormal EKG ORPHA:1666
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Aggressive behavior, Choreoathetosis, Emotional lability, Tremor, Cardiac conduc... ORPHA:2131
Tay-Sachs Disease
Exaggerated startle response, Hepatosplenomegaly, Tremor, Dystonia, Laryngeal dystonia, Anxiety, ... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Anxiety ORPHA:438216
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic stenosis, Bundle branc... OMIM:151100
Friedreich Ataxia
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG OMIM:229300
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia, Hepatosplenomegaly ORPHA:93400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Self-injurious behavior ORPHA:847
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Right bundle branch block, Tricuspid regurgitation OMIM:617402
Multiple Endocrine Neoplasia Type 1
Hematemesis, Shortened QT interval, Hypertension, Melena ORPHA:652
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Exaggerated startle response, Dilated cardiomyopathy OMIM:253800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
African Trypanosomiasis
Third degree atrioventricular block, Aggressive behavior, Anxiety, Abnormal EKG, Irritability, Ap... ORPHA:3385
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure OMIM:617403
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... ORPHA:980
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Anemia, Dystonia, Pulmonic stenosis ORPHA:438213
Friedreich Ataxia 2
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Abnormal EKG OMIM:601992
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter