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

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
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Congestive heart failure, Neonatal death OMIM:301021
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Red... OMIM:604765
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... 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, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Left ventricular outfl... OMIM:613255
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Cardiogenic shock, Reduced left ventricular eje... OMIM:613642
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Stillbirth, Pulmonary arterial hypertension, Neonatal death, Thrombocyt... OMIM:619751
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent... OMIM:613424
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Intrauterine growth retardatio... OMIM:616198
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Hereditary Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Atrial fibrillation, Hypertrophic cardiomyopathy, Increased left ventri... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 17
Intrauterine growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia ORPHA:154
Sandhoff Disease
Congestive heart failure, Splenomegaly ORPHA:796
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Atransferrinemia
Congestive heart failure, Hypochromic anemia OMIM:209300
Combined Oxidative Phosphorylation Deficiency 22
Intrauterine growth retardation, Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Verheij Syndrome
Optic nerve hypoplasia, Truncus arteriosus, Intrauterine growth retardation, Short neck, Branchia... OMIM:615583
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Neonatal death, Reduced left ventricular e... OMIM:614096
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Non-Involuting Congenital Hemangioma
Congestive heart failure, Thrombocytopenia, Telangiectasia of the skin ORPHA:141179
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Cardiomyopathy, Anemia OMIM:613313
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... OMIM:611705
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Arrhythmia, Abnormal left... OMIM:540000
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy OMIM:608099
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Thrombocytopenia, Telangiectasia of the skin ORPHA:141184
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Patent ductus art... ORPHA:3092
Hemochromatosis, Type 2A
Congestive heart failure, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiomyopathy OMIM:602390
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck ORPHA:1131
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th... ORPHA:49827
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Severely reduced left ventricular ejection frac... OMIM:620635
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Normochromic micro... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Babesiosis
Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Myocardia... ORPHA:108
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Congestive heart failure, Bradycardia OMIM:619048
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Congenital Heart Defects, Multiple Types, 2
Congestive heart failure, Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tra... OMIM:614980
Cednik Syndrome
Congestive heart failure ORPHA:66631
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618234
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Branchiootic Syndrome
Facial palsy, Branchial fistula ORPHA:52429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Congenital Myopathy 8
Congestive heart failure OMIM:618654
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Internal hemorrhage, Patent ductus arterio... ORPHA:90308
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Desminopathy
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At... ORPHA:98909
Bor Syndrome
Facial palsy, Branchial cyst ORPHA:107
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic sten... ORPHA:2414
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatos... ORPHA:846
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Infantile Sialic Acid Storage Disease
Congestive heart failure, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Myocardial necrosis,... OMIM:300257
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh... ORPHA:1880
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation OMIM:314400
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Patent ductus a... ORPHA:860
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Aarskog-Scott Syndrome
Congestive heart failure, Umbilical hernia ORPHA:915
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Congenital Gerbode Defect
Congestive heart failure, Elevated right atrial pressure, Elevated jugular venous pressure, Holos... ORPHA:99095
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:70472
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Branchiootorenal Syndrome 1
Facial palsy, Branchial fistula, Branchial cyst OMIM:113650
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure OMIM:300886
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Abnormal autonomic nervous system physiology, Gray matter heterotopia, Increas... ORPHA:453499
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... ORPHA:57777
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... ORPHA:439
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy ORPHA:53296
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Aorto-Ventricular Tunnel
Congestive heart failure, Heart murmur ORPHA:3400
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1194
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Mitral regurgitation, Aortic regurgitation, Umbilical hernia ORPHA:423461
Barth Syndrome
Congestive heart failure, Hypochromic microcytic anemia, Hypertrophic cardiomyopathy, Tricuspid r... OMIM:302060
Mulibrey Nanism
Intrauterine growth retardation, Congestive heart failure OMIM:253250
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hypertrophic cardiomyopathy, Cardiomyopathy, Mitral regurgitation OMIM:212140
Pediatric-Onset Graves Disease
Congestive heart failure, Atrial fibrillation, Neutropenia in presence of anti-neutropil antibodi... ORPHA:525731
Holoprosencephaly
Optic atrophy, Encephalocele, Hydrocephalus, Branchial anomaly, Abnormality of neuronal migration... ORPHA:2162
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Abnormal proportion of naive CD4 T cells, Hype... ORPHA:1830
Familial Atrial Myxoma
Congestive heart failure, Tricuspid regurgitation, Heart murmur ORPHA:615
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia ORPHA:91131
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Cardiomyopathy, Patent ductus arteriosus OMIM:616866
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Hemochromatosis, Type 1
Congestive heart failure, Cardiomyopathy, Splenomegaly, Arrhythmia, Telangiectasia OMIM:235200
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Anemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Thromboc... OMIM:617303
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Splenomegaly, Arrhythmia ORPHA:3386
Fabry Disease
Congestive heart failure, Anemia, Angina pectoris, Hypertension, Transient ischemic attack, Arrhy... OMIM:301500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ... ORPHA:90033
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Umbilical hernia ORPHA:2505
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Patent ductu... ORPHA:363705
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Congestive heart failure, Myocardial infarction OMIM:176670
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure ORPHA:500533
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:611126
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Immune-Mediated Necrotizing Myopathy
Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure ORPHA:206569
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Cardiomyopathy ORPHA:52430
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Hydrocephalus, Low posterior hairline, Optic disc coloboma, Patent ductus arteriosus... ORPHA:261337
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Patent ductus arteriosus, Aortic valve stenosis, Umbilical hernia, Intr... OMIM:601808
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hepatosplenomegaly, Splenomegaly, Umbilical hernia OMIM:309900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Mitral ... ORPHA:324410
Cardiac Diverticulum
Congestive heart failure, Patent ductus arteriosus, Angina pectoris, Tricuspid stenosis, Prematur... ORPHA:1686
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Thrombocytopenia, D... ORPHA:99901
Graves Disease
Congestive heart failure OMIM:275000
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Vasculitis, Hypertension, Transient ischemic attack, Hyper... ORPHA:183
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Classic Multiminicore Myopathy
Congestive heart failure, Right ventricular failure ORPHA:324604
Gm1-Gangliosidosis, Type I
Congestive heart failure, Vacuolated lymphocytes, Hypertrophic cardiomyopathy, Splenomegaly, Intr... OMIM:230500
Gm1 Gangliosidosis
Congestive heart failure, Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Patent ductus arteriosus ORPHA:354
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati... ORPHA:216694
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Dilated cardiomyopathy, Severely reduced left ventricular ejection frac... OMIM:620609
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Truncus arteriosus, Branchial fistula ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Optic nerve hypoplasia, Gray matter heterotopia, Increased nuchal translucency... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Optic nerve hypoplasia, Gray matter heterotopia, Increased nuchal translucency... ORPHA:352665
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Hepatic periportal necrosis, Cardiomyopathy, Arrhythmia ORPHA:26791
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertension, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:79083
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:2348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Anemia, Tricuspid regurgitation, Pulmonary arterial hypertension, Hyper... ORPHA:505248
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Noncompaction cardiomyopathy, B lymphocytopenia, Reticulocytope... ORPHA:508542
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Normocytic anemia, Vasculitis, Retinal hem... ORPHA:33226
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hypertension ORPHA:367
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Thrombocytopenia, Leukopenia, Intrauterine growth retardation, Neutropenia OMIM:616271
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:620646
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:1457
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ... ORPHA:465508
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure OMIM:166210
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Dilated ca... ORPHA:2326
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macro... OMIM:615512
Incontinentia Pigmenti
Congestive heart failure, Spina bifida occulta, Cerebral ischemia, Retinal hemorrhage, Pulmonary ... ORPHA:464
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Pulmonary arterial hypertension, Persistence of he... ORPHA:231222
Dietary Iron Overload Disease
Congestive heart failure, Hepatic periportal necrosis ORPHA:139507
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Pericarditis, Epistaxis, Arrhy... ORPHA:727
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Patent ductus arteriosus ORPHA:861
Ethylene Glycol Poisoning
Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval, Atrial fibril... ORPHA:31826
Avian Influenza
Congestive heart failure, Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:454836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Anemia, Cardiomyopathy, Leukocytosis, Hematochezia, Splenomegaly, Dilat... OMIM:615895
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye... ORPHA:70591
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Monosomy 18Q
Congestive heart failure, Left-to-right shunt, Aortic valve stenosis, Patent ductus arteriosus, M... ORPHA:1600
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Hypovolemia, Leukocytosis, Cardiogenic shock,... ORPHA:31824
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hyp... ORPHA:220393
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Mitral regurgitation ORPHA:746
Simple Cryoglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Chronic lymphatic leukemia, Vasculitis, Hy... ORPHA:91139
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Arterial rupture, Umbilical hernia ORPHA:1900
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:528
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Werner Syndrome
Congestive heart failure, Hypertension, Telangiectasia of the skin, Myocardial infarction ORPHA:902
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia OMIM:609015
Weill-Marchesani Syndrome 2
Congestive heart failure, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Umb... OMIM:608328
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Hypertrophic cardiomyopathy, Umbilical hernia, Sp... OMIM:252500
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Spina bifida occulta, M... OMIM:105650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Neonatal death, Pulmonary arterial hypertension OMIM:616482
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Anemia, Hypertension, Hepatosplenomegaly ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica
Anemia, Congestive heart failure, Constrictive pericarditis, Leukocytosis ORPHA:67
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171300
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Aortic regurgitation, Patent ductus... ORPHA:99094
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Congestive heart failure OMIM:619355
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Leigh Syndrome
Congestive heart failure, Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, N... ORPHA:506
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Anemia, Thrombocytosis, Supraventricular arrhythmia, Transient ischemic... ORPHA:3260
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow tract obstruction, A... ORPHA:99050
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Supraventricular arrhythmia, Hype... ORPHA:280365
Aceruloplasminemia
Congestive heart failure, Refractory anemia, Hypochromic microcytic anemia ORPHA:48818
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Fabry Disease
Congestive heart failure, Anemia, Angina pectoris, Hypertension, Transient ischemic attack, Hyper... ORPHA:324
Congenital Disorder Of Glycosylation, Type Iie
Intrauterine growth retardation, Congestive heart failure, Splenomegaly OMIM:608779
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Facial palsy, Natal tooth, Optic disc coloboma, Intrauterine growth retardation, Branchial cyst OMIM:620186
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure OMIM:605676
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Myocardial infarction OMIM:208000
Scimitar Syndrome
Congestive heart failure, Heart block, Truncus arteriosus, Pulmonary arterial hypertension, Left-... ORPHA:185
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Generalized Pustular Psoriasis
Congestive heart failure, Leukocytosis, Lymphopenia ORPHA:247353
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomyopathy OMIM:619259
8Q24.3 Microdeletion Syndrome
Spina bifida occulta, Optic nerve hypoplasia, Truncus arteriosus, Patent ductus arteriosus, Intra... ORPHA:508488
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, High-output congestive heart failure, Cerebral ischemia, Epistaxis, Tel... ORPHA:137667
Mucopolysaccharidosis Type 1
Congestive heart failure, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:579
Vici Syndrome
Congestive heart failure, Cardiomyopathy, T lymphocytopenia, Decreased proportion of CD4-positive... OMIM:242840
Seckel Syndrome 10
Congestive heart failure, Hypertension, Elevated hemoglobin A1c OMIM:617253
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Heart murmur ORPHA:1054
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Congestive heart failure, Gastrointestinal hemorrhage, Retinal telangiecta... ORPHA:774
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence... ORPHA:391487
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Carney Complex, Type 1
Congestive heart failure OMIM:160980
Abetalipoproteinemia
Congestive heart failure, Anemia, Acanthocytosis, Reticulocytosis ORPHA:14
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Hypertension, Aortic valve stenosis, Intracranial hemorrhage, Mitral re... ORPHA:363618
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypotension, Arrhythmia ORPHA:428
Branchiooculofacial Syndrome
Branchial anomaly, Facial palsy, Low posterior hairline, Intrauterine growth retardation, Short neck OMIM:113620
Erdheim-Chester Disease
Congestive heart failure, Anemia ORPHA:35687
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Congestive heart failure, Supravalvular aortic stenosis, I... ORPHA:90349
Listeriosis
Myocarditis, Congestive heart failure, Arteritis, Splenic abscess, Pericarditis, Hepatic granulom... ORPHA:533
Alstrom Syndrome
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Elevated hemoglobin A1c OMIM:203800
Marfan Syndrome
Congestive heart failure, Aortic regurgitation, Meningocele, Mitral regurgitation, Ventricular ta... ORPHA:558
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hypertrophic car... ORPHA:308552
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Mitral regurgitation, Aortic regurgitation OMIM:123700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Congestive heart failure OMIM:617156
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr... ORPHA:91347
Kawasaki Disease
Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Pericarditis, Arrhythmia, Thromb... ORPHA:2331
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:444077
Parkes Weber Syndrome
Subarachnoid hemorrhage, Myelopathy, Bounding pulse, High-output congestive heart failure ORPHA:90307
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Vacuolated lymphocytes, Cardiomyopathy, Spl... ORPHA:565612
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Geleophysic Dysplasia 1
Congestive heart failure, Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve steno... OMIM:231050
Primary Sclerosing Cholangitis
Congestive heart failure, Spider hemangioma, Portal hypertension, Hepatosplenomegaly, Splenomegal... ORPHA:171
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Intrauterine growth retardation, Congestive heart failure, Aortic regurgitation, Heart murmur OMIM:619475
African Trypanosomiasis
Myocarditis, Congestive heart failure, Abnormal EKG, Pericarditis, Hepatosplenomegaly, Splenomega... ORPHA:3385
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Branchial fistula, Bilateral polymicrogyria OMIM:613406
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Arterial rupture OMIM:225400
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus OMIM:164210
Williams Syndrome
Congestive heart failure, Patent ductus arteriosus, Spina bifida occulta, Hypertension, Cerebral ... ORPHA:904
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Hypertension, Supraventricular tachycardia OMIM:181270
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou... ORPHA:423
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Marfan Syndrome
Congestive heart failure, Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation OMIM:154700
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy OMIM:617403
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Thrombocytopenia, Splenomegaly, Arrhythmia, Microcytic anemia OMIM:256040
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec... OMIM:610655
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Congestive heart failure, Mitral regurgitation, Aortic regurgita... ORPHA:90348
Neutral Lipid Storage Myopathy
Congestive heart failure, Cardiomyopathy ORPHA:98908
Atypical Werner Syndrome
Aortic valve stenosis, Congestive heart failure, Hypertension, Telangiectasia of the skin ORPHA:79474
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Carney Complex
Congestive heart failure, Hypertension ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly
Low-output congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Ri... ORPHA:99125
Singleton-Merten Syndrome 1
Aortic valve stenosis, Congestive heart failure OMIM:182250
Alström Syndrome
Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Portal hypertension, Hep... 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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