banner
Genes Phenotypes Help, News, Blog

Gene: Hgf MGI:96079

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hepatocyte growth factor
Synonyms:
HGF/SF,  SF/HGF,  NK1,  NK2,  scatter factor,  C230052L06Rik

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 Hgf 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 Hgf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Placental Insufficiency
Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical... ORPHA:439167
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Usher Syndrome Type 1
Iris hypopigmentation, Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing ... ORPHA:231169
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Iris hypopigmentation, Sensorineural hearin... ORPHA:231183
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Atriov... ORPHA:398124
Nathalie Syndrome
Arrhythmia ORPHA:2663
Hemochromatosis, Type 4
Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cirrhosis, Anemia OMIM:606069
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... OMIM:602390
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Anemia, Hypertension ORPHA:69077
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest ORPHA:99745
Cirrhotic Cardiomyopathy
Abnormal bleeding, Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated... ORPHA:57777
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged prothro... ORPHA:49566
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Int... ORPHA:90308
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop... ORPHA:156
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Otofaciocervical Syndrome 1
Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea, Conductive hearing impairment OMIM:166780
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt... OMIM:616198
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... ORPHA:90647
Polycythemia Vera
Gingival bleeding, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Po... ORPHA:729
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... ORPHA:97292
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... ORPHA:2038
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ... ORPHA:1677
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral ... ORPHA:75249
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Dystonia 23
Arrhythmia OMIM:614860
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Elevated circulating hepatic transaminase concentration, Atrioventricular block, Car... OMIM:212138
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Arrhythmi... ORPHA:1194
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Hepatic failure, Cholestasis, Intrauterine growth retardation, Large placenta, ... OMIM:222470
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Myocarditis, Hepatomegaly ORPHA:3386
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diff... ORPHA:99827
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Myocardial infa... ORPHA:54057
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Infantile Refsum Disease
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:772
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Decreased... OMIM:256520
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic... ORPHA:228305
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycar... ORPHA:85443
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Abnormality of the... OMIM:610131
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... ORPHA:1662
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Biliary tract abnormality ORPHA:3191
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Congenital Syphilis
Hepatosplenomegaly, Intrauterine growth retardation, Large placenta, Pancreatitis, Prolonged neon... ORPHA:499009
Greenberg Dysplasia
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Polyhydramnios, Pancreatic isl... OMIM:215140
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia ORPHA:254528
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Chronic hepatic fail... ORPHA:465508
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Dk1-Cdg
Arrhythmia, Elevated circulating hepatic transaminase concentration, Congestive heart failure, Di... ORPHA:91131
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,... OMIM:600376
Isolated Atp Synthase Deficiency
Hepatomegaly, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Elevated circulating hepatic transaminase concentration, Dilated cardiomy... ORPHA:26793
Hellp Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Microangiopathic hemolytic ... ORPHA:244242
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyop... ORPHA:159
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Cholelithiasis, G... ORPHA:774
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Arrhythmia, Throm... OMIM:249270
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... OMIM:609015
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... ORPHA:100078
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Acquired Methemoglobinemia
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Kagami-Ogata Syndrome
Polyhydramnios, Hepatoblastoma, Large placenta, Premature birth ORPHA:254519
Systemic Capillary Leak Syndrome
Hypotension, Leukocytosis, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia OMIM:616949
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Palpitations, Splenomegaly, Angina pectoris, Arrhythmia, Pancreatitis, Low-output... ORPHA:565612
Legionnaires Disease
Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Arrhythmia, Pancreatitis, Myocarditis, Jaundic... ORPHA:549
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia ORPHA:230839
Yellow Fever
Abnormal bleeding, Pancreatic hyperplasia, Shock, Elevated circulating aspartate aminotransferase... ORPHA:99829
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ... ORPHA:340
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Mitral regurgitat... ORPHA:746
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... ORPHA:542323
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic peripo... ORPHA:26791
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Arrhythmia ORPHA:171876
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Right ventricular failure, Tricuspid regurgitatio... ORPHA:97214
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Subcutaneous hemorr... ORPHA:727
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun... ORPHA:99826
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation OMIM:608022
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Hepatic steatosis, A... ORPHA:254346
Mosaic Trisomy 16
Intrauterine growth retardation, Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Occipital encephalocele, Intrauterine... OMIM:249000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Elevated circula... OMIM:608836
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation, Telangiectasia... OMIM:175050
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Spina bifida, Abnormal liver lobulation ORPHA:99776
Leptospirosis
Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorrhage, Ele... ORPHA:509
Sarcoidosis
Hepatic failure, Decreased liver function, Leukopenia, Portal hypertension, Increased T cell coun... ORPHA:797
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cyclic neutropenia... OMIM:302060
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis ORPHA:228410
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Vitreous h... OMIM:620371
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Hepatic calcification, Arrhythmia, Hepatomegaly ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Hepatic calcification, Arrhythmia, Hepatomega... ORPHA:228308
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic ins... ORPHA:116
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Von Hippel-Lindau Disease
Polycythemia, Cardiomyopathy, Palpitations, Myocardial infarction, Arrhythmia, Pancreatic islet c... ORPHA:892
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Anemia, Hyperte... OMIM:301500
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Giant Cell Arteritis
Vasculitis, Hepatic failure, Epistaxis, Cerebral ischemia, Arrhythmia, Sudden cardiac death, Peri... ORPHA:397
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon... ORPHA:94093
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Elevated circ... ORPHA:466677
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Sy... OMIM:619991
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Spina bifida occulta, Arrhythmia, Paroxysmal supraventricular tachycardia OMIM:617877
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation, Polyhydra... ORPHA:96334
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Reduced left ven... ORPHA:254892
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Elevated circulating hepatic transaminase concentration,... OMIM:615471
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death, A... OMIM:614052
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Agel Amyloidosis
Bruising susceptibility, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Ar... ORPHA:85448
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Elevated circulating hepatic transaminase concentration, Abnor... ORPHA:480864
Kearns-Sayre Syndrome
Sideroblastic anemia, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Hemolytic anemia ORPHA:57
Genetic Recurrent Myoglobinuria
Arrhythmia, Elevated circulating hepatic transaminase concentration ORPHA:99845
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Chromosome 2Q37 Deletion Syndrome
Arrhythmia OMIM:600430
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral... ORPHA:900
Cardiac Diverticulum
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Abnormal EKG, Palpitations, Mi... ORPHA:1686
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Ogden Syndrome
Polycythemia, Umbilical hernia, Torsade de pointes, Premature atrial contractions, Intrauterine g... OMIM:300855
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Mitral regurgitatio... ORPHA:363705
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Arrhythmia, Splenomegaly ORPHA:163746
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Epistaxis, Transient ische... ORPHA:2929
Rheumatic Fever
Myocarditis, Epistaxis, Arrhythmia, Pericarditis ORPHA:3099
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Kawasaki Disease
Vasculitis, Hepatitis, Congestive heart failure, Leukocytosis, Cholecystitis, Arrhythmia, Thrombo... ORPHA:2331
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Anemia, Tachycardia, Hypertension ORPHA:139411
Pagod Syndrome
Abnormality of the spleen, Encephalocele, Arrhythmia, Spina bifida, Meningocele, Sudden cardiac d... ORPHA:991
Noonan Syndrome
Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Abnormal EKG, Hyper... ORPHA:648
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Familial Mediterranean Fever
Vasculitis, Acute hepatic failure, Leukocytosis, Splenomegaly, Peritonitis, Arrhythmia, Pancreati... ORPHA:342
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Leukocytosis, Arrhythmia, Myocarditis, ... ORPHA:31824
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Hec Syndrome
Arrhythmia, Cardiomyopathy ORPHA:2119
Ogden Syndrome
Arrhythmia, Cardiogenic shock ORPHA:276432
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Arrhythmia, Sp... ORPHA:500
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Ivic Syndrome
Arrhythmia, Leukocytosis, Thrombocytopenia ORPHA:2307
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Intrauterine growth retardation, Arrhythmia ORPHA:261211
Fabry Disease
Atrioventricular block, Congestive heart failure, Bundle branch block, Hypertrophic cardiomyopath... ORPHA:324
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
Mucopolysaccharidosis Type 2
Cardiomyopathy, Umbilical hernia, Splenomegaly, Arrhythmia, Hepatomegaly, Hypertension ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Heart murmur, Hyp... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Heart murmur, Hyp... ORPHA:217093
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Arrhythmia OMIM:619184
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sensorineural hearing impair... ORPHA:649
Cockayne Syndrome B
Intrauterine growth retardation, Splenomegaly, Arrhythmia, Hepatomegaly, Hypertension OMIM:133540
Cockayne Syndrome A
Intrauterine growth retardation, Splenomegaly, Arrhythmia, Hepatomegaly, Hypertension OMIM:216400
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia OMIM:616298
African Trypanosomiasis
Myelopathy, Third degree atrioventricular block, Second degree atrioventricular block, Congestive... ORPHA:3385
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Microcytic ane... OMIM:256040
Leber Optic Atrophy
Arrhythmia OMIM:535000
Botulism
Arrhythmia ORPHA:1267
Mgat2-Cdg
Arrhythmia, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Reflex... ORPHA:79329
Plague
Hypotension, Abnormal bleeding, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Tachycardia ORPHA:707
Tuberous Sclerosis Complex
Internal hemorrhage, Hypertension, Hepatic cysts ORPHA:805
Foodborne Botulism
Arrhythmia ORPHA:228371
Holoprosencephaly
Spinal dysraphism, Abnormality of the spleen, Branchial anomaly, Encephalocele, Arrhythmia ORPHA:2162
Superficial Siderosis
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Dermatomyositis
Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati... ORPHA:221
Oculodentodigital Dysplasia
Arrhythmia, Umbilical hernia ORPHA:2710
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Kleefstra Syndrome
Arrhythmia ORPHA:261494
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary arterial hypertension, Cardiomy... ORPHA:258
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Schwartz-Jampel Syndrome
Arrhythmia, Pulmonary arterial hypertension, Umbilical hernia ORPHA:800
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyo... ORPHA:79318
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Umbilical hernia, Cardiomyopathy, Splenomegaly, Pancreatic islet-cell hyperplasia, H... OMIM:312870
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Arrhythmia ORPHA:68
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy OMIM:309801
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Umbilical hernia ORPHA:1519
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Bruising susceptibility, Umbilical hernia, Arrhythmia, Raynaud phenomenon ORPHA:285
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:218040
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Umbilical hernia, Transient ischemic attack, Telangie... ORPHA:286
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Stickler Syndrome
Arrhythmia ORPHA:828
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450

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 Hgf

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 Hgf.

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

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
Hgftm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hgftm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter