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Gene: Kdr MGI:96683

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... OMIM:613255
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car... OMIM:613642
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Pulmonary arterial hypertension, Stillbirth, Neonatal death, Intrauteri... OMIM:619751
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... ORPHA:60041
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Combined Oxidative Phosphorylation Deficiency 17
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Sandhoff Disease
Splenomegaly, Congestive heart failure ORPHA:796
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Atransferrinemia
Congestive heart failure, Hypochromic anemia OMIM:209300
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Verheij Syndrome
Branchial cyst, Optic nerve hypoplasia, Short neck, Intrauterine growth retardation, Truncus arte... OMIM:615583
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular e... OMIM:614096
Combined Oxidative Phosphorylation Deficiency 22
Intrauterine growth retardation, Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141179
Hemochromatosis, Type 2B
Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy OMIM:613313
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
Hemochromatosis, Type 2A
Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:602390
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141184
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck ORPHA:1131
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Th... ORPHA:49827
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Bradycardia, Congestive heart failure OMIM:619048
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Cednik Syndrome
Congestive heart failure ORPHA:66631
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Babesiosis
Hemolytic anemia, Myocardial infarction, Congestive heart failure, Splenomegaly, Leukopenia, Thro... ORPHA:108
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Congenital Myopathy 8
Congestive heart failure OMIM:618654
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Microcytic anemia, Congestive heart failure, Pat... ORPHA:90308
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop... OMIM:300257
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Patent ductus arteriosus, Ri... ORPHA:1880
Infantile Sialic Acid Storage Disease
Splenomegaly, Congestive heart failure, Vacuolated lymphocytes OMIM:269920
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Pulmonic stenosis, Pulmonary art... ORPHA:2414
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular ... ORPHA:860
Aarskog-Scott Syndrome
Umbilical hernia, Congestive heart failure ORPHA:915
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation OMIM:314400
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:70472
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... ORPHA:99095
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Gray matter heterotopia, Branchial anomaly, Abnormal autonomic ner... ORPHA:453499
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia ORPHA:90037
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Mulibrey Nanism
Intrauterine growth retardation, Congestive heart failure OMIM:253250
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:1194
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Aorto-Ventricular Tunnel
Congestive heart failure, Heart murmur ORPHA:3400
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:212140
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Splenomegaly, Neutropenia in presence of anti-neut... ORPHA:525731
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Optic atrophy, Abnormality of neuronal migration, Spina... ORPHA:2162
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Thrombocytopenia, Pulmonary arterial hyperte... ORPHA:1830
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Familial Atrial Myxoma
Congestive heart failure, Tricuspid regurgitation, Heart murmur ORPHA:615
Dk1-Cdg
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:91131
Hemochromatosis, Type 1
Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Patent ductus arteriosus, Congestive heart failure OMIM:616866
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Patent ductus arteriosus, Thrombocytopenia, Splenomegaly, Leukopenia, N... OMIM:617303
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
American Trypanosomiasis
Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia ORPHA:3386
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Patent ductu... ORPHA:363705
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Congestive heart failure ORPHA:2505
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure ORPHA:500533
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Congestive heart failure ORPHA:52430
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia OMIM:611126
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations ORPHA:206569
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Patent ductus arteriosus, Umbilical hernia, Aortic valve stenosis, Intr... OMIM:601808
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Aortic v... ORPHA:324410
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Patent ductus arteriosus, Hydrocephalus, Optic disc coloboma, Low posterior ha... ORPHA:261337
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... ORPHA:99901
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Pat... ORPHA:1686
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Eosinophilia, Myocardial infarcti... ORPHA:183
Gm1-Gangliosidosis, Type I
Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Vacuolated lymphocytes, Intrauter... OMIM:230500
Mucopolysaccharidosis, Type Ii
Splenomegaly, Umbilical hernia, Congestive heart failure, Hepatosplenomegaly OMIM:309900
Gm1 Gangliosidosis
Congestive heart failure, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy ORPHA:354
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Classic Multiminicore Myopathy
Congestive heart failure, Right ventricular failure ORPHA:324604
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Increased nuchal translucency, Gray matter heterotopia, Branchial anomaly... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Increased nuchal translucency, Gray matter heterotopia, Branchial anomaly... ORPHA:352665
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Truncus arteriosus, Intrauterine growth retardation ORPHA:261330
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatic periportal necrosis, Congestive heart failure, Arrhythmia ORPHA:26791
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:2348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Thrombo... ORPHA:505248
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... ORPHA:33226
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Elevated... ORPHA:465508
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly ORPHA:367
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Leukopenia, Neutropenia, Intrauterine growth retardation, Thrombocytopenia OMIM:616271
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... ORPHA:508542
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency OMIM:166210
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Congestive heart failure, Splenomegaly, N... OMIM:615512
Dietary Iron Overload Disease
Congestive heart failure, Hepatic periportal necrosis ORPHA:139507
Incontinentia Pigmenti
Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Retinal hemorrhage, Pulmonary... ORPHA:464
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Renal t... ORPHA:31826
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Leukocytosis, Dilated cardiomyopathy, Splenomegaly, Hematochezia, Cardi... OMIM:615895
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Monosomy 18Q
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitation, Ao... ORPHA:1600
Colchicine Poisoning
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardiogenic shock,... ORPHA:31824
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia ORPHA:746
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Avian Influenza
Congestive heart failure, Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Patent ... ORPHA:980
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:528
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Umbilical hernia, Arterial rupture, Congestive heart failure ORPHA:1900
Aorta Coarctation
Congestive heart failure, Patent ductus arteriosus, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy OMIM:609015
Weill-Marchesani Syndrome 2
Congestive heart failure, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Umbi... OMIM:608328
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Werner Syndrome
Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction ORPHA:902
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Congestive heart failure, Pulmonary arterial hypertension OMIM:616482
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hepatosplenomegaly, Hypertension, Anemia ORPHA:85450
Diamond-Blackfan Anemia 1
Macrocytic anemia, Thrombocytosis, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive ... OMIM:105650
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Myelopathy, Congestive heart failure, Splenomegaly, Heart murmur, Mitral re... OMIM:252500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... ORPHA:99050
Laubry-Pezzi Syndrome
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... ORPHA:99094
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Congestive heart failure, Anemia ORPHA:67
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Leigh Syndrome
Congestive heart failure, Neutropenia, Intrauterine growth retardation, Hypertrophic cardiomyopat... ORPHA:506
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Sple... ORPHA:280365
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Congestive heart failure OMIM:619355
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... ORPHA:3260
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Aceruloplasminemia
Refractory anemia, Congestive heart failure, Hypochromic microcytic anemia ORPHA:48818
Congenital Disorder Of Glycosylation, Type Iie
Splenomegaly, Intrauterine growth retardation, Congestive heart failure OMIM:608779
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Scimitar Syndrome
Left-to-right shunt, Heart block, Congestive heart failure, Patent ductus arteriosus, Pulmonary a... ORPHA:185
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Facial palsy, Optic disc coloboma, Intrauterine growth retardation OMIM:620186
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Generalized Pustular Psoriasis
Congestive heart failure, Leukocytosis, Lymphopenia ORPHA:247353
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
8Q24.3 Microdeletion Syndrome
Branchial cyst, Optic nerve hypoplasia, Short neck, Patent ductus arteriosus, Intrauterine growth... ORPHA:508488
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure OMIM:619259
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Cerebr... ORPHA:137667
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertension, Congestive heart failure OMIM:617253
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, T lymphocytopenia, Leukopenia, ... OMIM:242840
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... ORPHA:391487
Mucopolysaccharidosis Type 1
Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:579
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Carney Complex, Type 1
Congestive heart failure OMIM:160980
Abetalipoproteinemia
Congestive heart failure, Acanthocytosis, Anemia, Reticulocytosis ORPHA:14
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... ORPHA:363618
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Branchiooculofacial Syndrome
Facial palsy, Short neck, Low posterior hairline, Branchial anomaly, Intrauterine growth retardation OMIM:113620
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Portal hypertension, Spider hemangioma, Congestive heart failure,... ORPHA:171
Kawasaki Disease
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Arrhythmia ORPHA:2331
Listeriosis
Pericarditis, Myocarditis, Congestive heart failure, Hepatic granulomatosis, Granulomatosis, Arte... ORPHA:533
Erdheim-Chester Disease
Congestive heart failure, Anemia ORPHA:35687
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge... ORPHA:308552
Geleophysic Dysplasia 1
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation OMIM:123700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Congestive heart failure OMIM:617156
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart failure, Cardi... ORPHA:565612
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Patent ductus arteriosus, Pulmonary arterial hypertension ORPHA:444077
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Abnormal cardiac ventricular function, Congestive heart failure,... ORPHA:90349
Parkes Weber Syndrome
Bounding pulse, Myelopathy, Subarachnoid hemorrhage, High-output congestive heart failure ORPHA:90307
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Splenomegaly, Hepa... ORPHA:3385
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... OMIM:187300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture OMIM:225400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Intrauterine growth retardation, Congestive heart failure, Heart murmur OMIM:619475
Marfan Syndrome
Congestive heart failure, Meningocele ORPHA:558
Craniofacial Microsomia 1
Patent ductus arteriosus, Occipital encephalocele, Branchial anomaly, Hydrocephalus OMIM:164210
Witteveen-Kolk Syndrome
Branchial fistula, Bilateral polymicrogyria, Intrauterine growth retardation OMIM:613406
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
Williams Syndrome
Sudden cardiac death, Myocardial infarction, Congestive heart failure, Patent ductus arteriosus, ... ORPHA:904
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Cutis Laxa, Autosomal Recessive, Type Iid
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:617403
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Congestive heart failure, Arrhythmia, Thrombocytopenia OMIM:256040
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Congestive heart fai... ORPHA:90348
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation OMIM:154700
Neutral Lipid Storage Myopathy
Cardiomyopathy, Congestive heart failure ORPHA:98908
Atypical Werner Syndrome
Hypertension, Aortic valve stenosis, Telangiectasia of the skin, Congestive heart failure ORPHA:79474
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Carney Complex
Hypertension, Congestive heart failure ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Low-ou... ORPHA:99125
Singleton-Merten Syndrome 1
Congestive heart failure, Aortic valve stenosis OMIM:182250
Alström Syndrome
Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Hepatospleno... 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.

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.

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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