Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
kinase insert domain protein receptor
Synonyms:
orv,  VEGFR2,  Flk1,  vascular endothelial growth factor receptor- 2,  Flk-1,  VEGFR-2,  VEGF receptor-2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kdr mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Tetralogy Of Fallot
Intrauterine growth retardation ORPHA:3303
Hemangioma, Capillary Infantile
OMIM:602089

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... OMIM:607482
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o... OMIM:613255
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... OMIM:615396
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Intrauterine growt... OMIM:619751
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:615248
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive heart failure OMIM:616045
Sandhoff Disease
Splenomegaly, Congestive heart failure ORPHA:796
Atransferrinemia
Hypochromic anemia, Congestive heart failure OMIM:209300
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated card... OMIM:610198
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hypertension, Congestive heart failure OMIM:615703
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Cardiomyopathy, Congestive heart failure OMIM:613313
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... OMIM:540000
Hemochromatosis, Type 2A
Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Fixed Subaortic Stenosis
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... ORPHA:3092
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Anemia, Mitral regurgitation, Right ventricular failur... ORPHA:563
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Paroxysmal atrial tachycardia, Thrombocytopenia, Cardiac arrest, Congestive... ORPHA:49827
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Eosinophil... ORPHA:75566
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia, Congestive h... ORPHA:108
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Bradycardia, Congestive heart failure OMIM:619048
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Cednik Syndrome
Congestive heart failure ORPHA:66631
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Klippel-Trénaunay Syndrome
Pulmonary embolism, Microcytic anemia, Patent ductus arteriosus, Internal hemorrhage, Gastrointes... ORPHA:90308
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... OMIM:255160
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Patent ductus arteriosus, Right bundle branc... ORPHA:1880
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Arrhythmia, Hemolytic anemia, Congestive heart failure ORPHA:98375
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Congestive heart failure OMIM:269920
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypertension, Conges... ORPHA:2414
Aarskog-Scott Syndrome
Umbilical hernia, Congestive heart failure ORPHA:915
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... ORPHA:860
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Cardiac Valvular Dysplasia, X-Linked
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure OMIM:314400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Leukocytosis, Cerebral ischemia, Syncope, Prolonged Q... ORPHA:90065
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure OMIM:300886
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:70472
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Familial Cutaneous Collagenoma
Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Abnormal autonomic nervous system physiology, Cystic hygroma, Branchial ... ORPHA:453499
Barth Syndrome
Granulocytopenia, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic v... OMIM:302060
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Systolic heart murm... ORPHA:99095
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:1194
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Mulibrey Nanism
Intrauterine growth retardation, Congestive heart failure OMIM:253250
Cirrhotic Cardiomyopathy
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... ORPHA:57777
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... ORPHA:439
Polymyositis
Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atrioventricular conduction, Dilated card... ORPHA:732
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 4
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... OMIM:115197
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Short neck, Optic atrophy, Spinal dysraphism, Branchial anomaly... ORPHA:2162
Aorto-Ventricular Tunnel
Congestive heart failure, Heart murmur ORPHA:3400
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Sinus tachycardia, Splenomegaly, Palpitatio... ORPHA:525731
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Aortic Arch Interruption
Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur... ORPHA:2299
Familial Atrial Myxoma
Tricuspid regurgitation, Congestive heart failure, Heart murmur ORPHA:615
Hemochromatosis, Type 1
Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Congestive heart failure OMIM:235200
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Anemia, Abnormal proportion of naive CD4 T cells, Cerebral ischemia, Thrombocytopeni... ORPHA:1830
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Heart murmur, Syncope,... ORPHA:275766
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Fabry Disease
Angina pectoris, Anemia, Arrhythmia, Myocardial infarction, Hypertension, Transient ischemic atta... OMIM:301500
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Splenomegaly, Leukopenia, Patent ductus arteriosus, Neutropenia, Ane... OMIM:617303
Dk1-Cdg
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:91131
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Congestive he... ORPHA:90033
American Trypanosomiasis
Splenomegaly, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure ORPHA:3386
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:212140
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Arrhythmia, Patent ductus arteriosus, Gastrointestin... ORPHA:363705
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Congestive heart failure ORPHA:2505
Immune-Mediated Necrotizing Myopathy
Palpitations, Raynaud phenomenon, Myocarditis, Congestive heart failure ORPHA:206569
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Congestive heart failure ORPHA:52430
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Cardiomyopathy, Congestive heart failure OMIM:616866
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Branchial fistula, Optic disc coloboma, Patent ductus arteriosus, Webbed neck, Low... ORPHA:261337
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Splenomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Intrau... OMIM:230500
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely reduced left ventricular ej... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure ORPHA:500533
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Atrial flutter, Congestive ... ORPHA:324410
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Eosinophilia, Myocarditis, Vasculitis, Myocardial infarction... ORPHA:183
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Umbilical hernia, Congestive heart failure OMIM:601808
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Splenomegaly, Umbilical hernia, Congestive heart failure OMIM:309900
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Dilated cardiomyopathy, Hypertroph... ORPHA:99901
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Patent ductus arteriosus, Cardiomyopathy, Congestive heart failure ORPHA:354
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Leigh Syndrome With Cardiomyopathy
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... ORPHA:70474
Primary Lipodystrophy
Angina pectoris, Splenomegaly, Hypertension, Cardiomyopathy, Congestive heart failure ORPHA:90970
Classic Multiminicore Myopathy
Right ventricular failure, Congestive heart failure ORPHA:324604
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Optic nerve hypoplasia, Cystic hygroma, Branchial anomaly, Increased nuc... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Optic nerve hypoplasia, Cystic hygroma, Branchial anomaly, Increased nuc... ORPHA:352665
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus ORPHA:261330
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart failure ORPHA:79083
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Arrhythmia, Portal hypertension, Cardiomyopathy, Congestive heart failure, Elevated... ORPHA:465508
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Hepatosplenomegaly, T... ORPHA:505248
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... OMIM:613426
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:26791
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... ORPHA:508542
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart failure ORPHA:2348
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure OMIM:166210
Waldenström Macroglobulinemia
Splenomegaly, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormality of neutrophils, Gast... ORPHA:33226
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Triosephosphate Isomerase Deficiency
Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Chronic hemolytic anemia, N... OMIM:615512
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Dilated cardiomyopathy, Portal hypertension, Congestive heart failure ORPHA:367
Kallmann Syndrome-Heart Disease Syndrome
Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aortic regurgitation, Dilated cardio... ORPHA:2326
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Neutropenia, Thrombocytopenia, Intrauterine growth retardation, Congestive heart failure OMIM:616271
Aorta Coarctation
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Congestive heart failure ORPHA:1457
Ethylene Glycol Poisoning
Tachycardia, Hypotension, Shock, Renal tubular epithelial necrosis, Hypertension, Atrial fibrilla... ORPHA:31826
Incontinentia Pigmenti
Telangiectasia of the skin, Eosinophilia, Retinal hemorrhage, Spina bifida occulta, Cerebral isch... ORPHA:464
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Encephalocele ORPHA:861
Simple Cryoglobulinemia
Raynaud phenomenon, Vasculitis, Myocardial infarction, Chronic lymphatic leukemia, Gastrointestin... ORPHA:91139
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Hematochezia, Dilated cardiomyopathy, Anemia, Cardiomyopathy, Congest... OMIM:615895
Microscopic Polyangiitis
Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart fa... ORPHA:727
Colchicine Poisoning
Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive he... ORPHA:31824
Monosomy 18Q
Aortic valve stenosis, Left-to-right shunt, Mitral regurgitation, Patent ductus arteriosus, Conge... ORPHA:1600
African Iron Overload
Hepatic periportal necrosis, Congestive heart failure ORPHA:139507
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:746
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:528
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Patent ductus art... ORPHA:980
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia, Congestive heart failure ORPHA:454836
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Myeloproliferative disorder, ... ORPHA:70591
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Patent ductus arteriosus, Umbilic... OMIM:608328
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Congestive heart failure, Hypertensi... ORPHA:220393
Tetrasomy 5P
Pulmonary arterial hypertension, Congestive heart failure, Heart murmur ORPHA:3309
Atrioventricular Septal Defect 3
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... OMIM:600309
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial rupture, Umbilical hernia, Congestive heart failure ORPHA:1900
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Anemia, Constrictive pericarditis, Congestive heart failure ORPHA:67
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:609015
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Mitral regurgitation, Myelopathy, Heart murmur, Aortic regurgitation, Umbilical her... OMIM:252500
Werner Syndrome
Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure ORPHA:902
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left ventricular outflow tract obstruction, Left-to-right shunt, Heart murmur, Patent ductus arte... ORPHA:99050
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Palpitations, Elevated pulmonary artery pressure, Aor... ORPHA:99094
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Gastrointestinal hemorrhage, Anemia, Hypertension, Congestive heart failure ORPHA:85450
Leigh Syndrome
Neutropenia, Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Congestive hea... ORPHA:506
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Martsolf Syndrome 1
Cardiac arrest, Cardiomyopathy, Congestive heart failure OMIM:212720
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Splenomegaly, Ventricular arrhythmia, Abnormal atrioventricular cond... ORPHA:280365
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Neutrophilia, Vasculitis in the skin, Raynaud phenomenon, Splenomega... ORPHA:3260
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iie
Intrauterine growth retardation, Splenomegaly, Congestive heart failure OMIM:608779
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Congestive heart failure OMIM:619355
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Aceruloplasminemia
Refractory anemia, Hypochromic microcytic anemia, Congestive heart failure ORPHA:48818
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Anemia... ORPHA:324
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Hypertens... ORPHA:3342
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Congestive heart failure OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... OMIM:620066
Scorpion Envenomation
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... ORPHA:466677
Vici Syndrome
Decreased proportion of CD4-positive helper T cells, Dilated cardiomyopathy, Cardiomyopathy, Cong... OMIM:242840
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure OMIM:619259
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Cerebral ischemia, Telangiectasia, Epistaxis, Congestive he... ORPHA:137667
Scimitar Syndrome
Left-to-right shunt, Patent ductus arteriosus, Heart block, Pulmonary arterial hypertension, Trun... ORPHA:185
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart failure ORPHA:579
Diamond-Blackfan Anemia 1
Congestive heart failure, Congenital hypoplastic anemia, Tricuspid stenosis, Thrombocytosis, Neut... OMIM:105650
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure OMIM:617403
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertension, Congestive heart failure OMIM:617253
Carney Complex, Type 1
Congestive heart failure OMIM:160980
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertension, Congestive he... ORPHA:363618
Abetalipoproteinemia
Anemia, Reticulocytosis, Acanthocytosis, Congestive heart failure ORPHA:14
Branchiooculofacial Syndrome
Short neck, Branchial anomaly, Facial palsy, Intrauterine growth retardation, Low posterior hairline OMIM:113620
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Intrauterine growth retardation, Supravalvular aortic sten... ORPHA:90349
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Congestive heart failure ORPHA:428
Listeriosis
Splenic abscess, Myocarditis, Pericarditis, Hepatic granulomatosis, Granulomatosis, Arteritis, Co... ORPHA:533
Geleophysic Dysplasia 1
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis, Congestive heart failure OMIM:231050
Erdheim-Chester Disease
Anemia, Congestive heart failure ORPHA:35687
Cutis Laxa, Autosomal Dominant 1
Mitral regurgitation, Aortic regurgitation, Congestive heart failure OMIM:123700
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Low-output conge... ORPHA:308552
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Arterial rupture, Congestive heart failure OMIM:225400
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Myelopathy, Arrhythmia, Myocarditis, Third degree atrioventricu... ORPHA:3385
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Vacuolated lymphocytes, Splenomegaly, Palpitations, Arrhythmia, Low-output conge... ORPHA:565612
Parkes Weber Syndrome
Bounding pulse, Myelopathy, Subarachnoid hemorrhage, High-output congestive heart failure ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Congestive heart failure ORPHA:444077
Primary Sclerosing Cholangitis
Splenomegaly, Palmar telangiectasia, Hepatosplenomegaly, Spider hemangioma, Portal hypertension, ... ORPHA:171
Craniofacial Microsomia
Patent ductus arteriosus, Hydrocephalus, Occipital encephalocele, Branchial anomaly OMIM:164210
Marfan Syndrome
Congestive heart failure, Meningocele ORPHA:558
Kawasaki Disease
Leukocytosis, Arrhythmia, Vasculitis, Myocarditis, Pericarditis, Congestive heart failure ORPHA:2331
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart fai... ORPHA:2346
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Heart murmur, Aortic regurgitation, Intrauterine growth retardation, Congestive heart failure OMIM:619475
Witteveen-Kolk Syndrome
Branchial fistula, Bilateral polymicrogyria, Intrauterine growth retardation OMIM:613406
Williams Syndrome
Supravalvular aortic stenosis, Pulmonic stenosis, Mitral regurgitation, Sudden cardiac death, Spi... ORPHA:904
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... ORPHA:423
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure ORPHA:73224
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Short neck, Spina bifida occulta, Patent ductus arteriosus, Branchial cys... ORPHA:508488
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Concentric hypertrophic card... OMIM:229310
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Arrhythmia, Microcytic anemia, Thrombocytopenia, Congestive heart failure OMIM:256040
Autosomal Dominant Cutis Laxa
Mitral regurgitation, Aortic regurgitation, Intrauterine growth retardation, Congestive heart fai... ORPHA:90348
Marfan Syndrome
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure OMIM:154700
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Right-to-left shunt, Subarachnoid hemo... OMIM:610655
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:601992
Atypical Werner Syndrome
Telangiectasia of the skin, Aortic valve stenosis, Hypertension, Congestive heart failure ORPHA:79474
Neutral Lipid Storage Myopathy
Cardiomyopathy, Congestive heart failure ORPHA:98908
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy OMIM:302900
Carney Complex
Hypertension, Congestive heart failure ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly
Tricuspid regurgitation, Mitral regurgitation, Right ventricular failure, Tachycardia, Patent duc... ORPHA:99125
Singleton-Merten Syndrome 1
Aortic valve stenosis, Congestive heart failure OMIM:182250
Alström Syndrome
Abnormal coronary artery physiology, Splenomegaly, Hepatosplenomegaly, Dilated cardiomyopathy, Po... ORPHA:64
Tetralogy Of Fallot
Intrauterine growth retardation ORPHA:3303
Hemangioma, Capillary Infantile
OMIM:602089

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 Kdr

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 Kdr.

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

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MGI Allele Allele Type Produced
Kdrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kdrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kdrem1(IMPC)Ccpcz Exon Deletion Mice

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