Not currently registered for phenotyping at IMPC

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

Gene Summary

hepatocyte growth factor
HGF/SF,  SF/HGF,  NK1,  NK2,  scatter factor,  C230052L06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
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
Matching phenotypes Source
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Hearing impairment OMIM:614944
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
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
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Placental Insufficiency
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Spontaneous abor... ORPHA:439167
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Iris hypopigmentation, Vestibular... ORPHA:231169
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigmentation, Vestibular ... ORPHA:231183
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Hepatoportal Sclerosis
Hepatocellular carcinoma, Leukopenia, Prolonged prothrombin time, Anemia, Nodular regenerative hy... ORPHA:64743
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spinocerebellar atrophy, Optic atrophy, Hearing impairment ORPHA:95433
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Pancytopenia, Prolonged QT interval, Atriovent... ORPHA:398124
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Arrhythmia OMIM:606069
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... OMIM:602390
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Intrauterine growth retardation, Sideroblastic anemia, Decreased liver function, Th... OMIM:617021
Nathalie Syndrome
Arrhythmia ORPHA:2663
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Small placenta ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Intrauterine growth retardation, Small placenta ORPHA:397590
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hyperte... ORPHA:422
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Rhabdoid Tumor
Hypertension, Anemia, Neoplasm of the liver, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Congenital Factor X Deficiency
Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Prolonged prothrombin time, Joint hemorrh... ORPHA:328
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Splenomegaly ORPHA:77260
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Hepatomegaly, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia ORPHA:99745
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Klippel-Trénaunay Syndrome
Hepatomegaly, Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding time, Congestive... ORPHA:90308
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Arrhyt... ORPHA:156
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Hepatic failure, Thr... ORPHA:49566
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Hemochromatosis, Type 1
Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cirrhosis, ... OMIM:235200
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Cirrhotic Cardiomyopathy
Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Pro... ORPHA:57777
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrioventricular block, Left bundle branch bl... OMIM:115197
Congenital Fibrinogen Deficiency
Splenic rupture, Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrh... ORPHA:335
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Intrauterine growth retardation, Cardiomyopathy OMIM:616198
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Arrhythmia, Hepatic steatosis OMIM:255120
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Intrauterine growth retardation, Fetal akinesia sequence, Premature birth, ... OMIM:208150
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia... ORPHA:231226
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carci... ORPHA:231214
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Red... ORPHA:1677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Pulmonary Arteriovenous Malformation
Telangiectasia, Heart murmur, Iron deficiency anemia, Palpitations, Epistaxis, Pulmonary arterial... ORPHA:2038
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Intrauterine growth retardation, Congestive heart fail... ORPHA:1194
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Hemolytic anemia, Arrhythmia, Abnormal leukocyte morphology ORPHA:98375
Mahvash Disease
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Trichohepatoenteric Syndrome 1
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Polyhydramnios, Abnormality of t... OMIM:222470
Jervell And Lange-Nielsen Syndrome
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... ORPHA:90647
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Acute pancreatitis, Pancytopenia, Diffuse... ORPHA:99827
Dystonia 23
Arrhythmia OMIM:614860
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy OMIM:192600
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, ... ORPHA:228305
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Pericarditis, Abnormal atriove... ORPHA:732
American Trypanosomiasis
Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failure, Arrhythmia ORPHA:3386
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrial fibrillation, Mitral regurgitation, Tr... ORPHA:75249
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Arrh... ORPHA:54057
Infantile Refsum Disease
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:772
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Car... ORPHA:465508
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase, Arrhythmia ORPHA:42
Hepatomegaly, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Splenomegaly, Gastroi... ORPHA:98292
Neu-Laxova Syndrome 1
Short umbilical cord, Intrauterine growth retardation, Decreased fetal movement, Stillbirth, Smal... OMIM:256520
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Arrhythmia ORPHA:3191
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Hepatocellular Carcinoma
Hepatomegaly, Thrombocytosis, Hemobilia, Budd-Chiari syndrome, Polycythemia, Hepatic necrosis, An... ORPHA:88673
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Hematemesis,... ORPHA:100076
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... OMIM:540000
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Congestive heart failure, Granu... OMIM:302060
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Palpitations, Melena, Tricuspid r... ORPHA:100080
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Al Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal P wave, Anemia, Abnormality of the liver, Gas... ORPHA:85443
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Cirrhosis, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Restrictive Dermopathy
Short umbilical cord, Intrauterine growth retardation, Premature delivery because of cervical ins... ORPHA:1662
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Wiskott-Aldrich Syndrome
Neutropenia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Recurrent intrapulmonary hemo... ORPHA:906
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Arterial occ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Arterial occ... ORPHA:100077
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Arrhythmia, Sudden cardiac death OMIM:181350
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Palpitations, Melena, Tricuspid r... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Palpitations, Melena, Tricuspid r... ORPHA:100082
Elevated hepatic transaminase, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:91131
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254528
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Arrhythmia, Elevated hepatic transaminase OMIM:610131
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hepatic failure, Elevated hepatic transami... ORPHA:159
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Iron deficiency anemia, Palpitati... ORPHA:100075
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Ventricular tachycardia, Atrioventri... ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Congestive... OMIM:609015
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombi... ORPHA:244242
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia,... OMIM:249270
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Diffuse hepatic steatosis, Cholest... ORPHA:746
Kagami-Ogata Syndrome
Premature birth, Large placenta, Hepatoblastoma, Polyhydramnios ORPHA:254519
Legionnaires Disease
Myocarditis, Pericarditis, Hepatitis, Pancreatitis, Splenomegaly, Lymphopenia, Arrhythmia, Hypote... ORPHA:549
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Yellow Fever
Shock, Leukocytosis, Reduced ejection fraction, Capillary leak, Prolonged prothrombin time, Brady... ORPHA:99829
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Spina bifida occulta, Arrhythmia, Bruising susceptibility ORPHA:230839
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Arrhythmia OMIM:616949
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Palpitations, Vacuolated lymphocytes, Low-output congestive heart failure, Pancreat... ORPHA:565612
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Elevated hepatic transaminase, Arrhythmia, H... ORPHA:542323
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Hemorrhagic Fever-Renal Syndrome
Shock, Leukocytosis, Hypertension, Intracranial hemorrhage, Ecchymosis, Petechiae, Palpitations, ... ORPHA:340
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension ORPHA:188
Meckel Syndrome, Type 1
Intrauterine growth retardation, Malformation of the hepatic ductal plate, Asplenia, Bile duct pr... OMIM:249000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Antenatal intracerebral hemorrhage, ... OMIM:608836
Abnormal liver lobulation, Intrauterine growth retardation OMIM:608022
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Intrauterine growth retardation, Premature birth, Single umbilic... ORPHA:1708
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Marburg Hemorrhagic Fever
Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Excessive bleeding ... ORPHA:99826
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Cholelithiasis ORPHA:171876
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... ORPHA:97214
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Microscopic Polyangiitis
Pericarditis, Peritonitis, Epistaxis, Pancreatitis, Subcutaneous hemorrhage, Gastrointestinal hem... ORPHA:727
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Mitral regurgitation, Aortic regurgitation, Hepatic steatosis, A... ORPHA:254346
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Decreased liver function, Acute pancreatitis, Congestive heart fail... ORPHA:26791
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... ORPHA:99104
Congenital Hypothyroidism
Hypertension, Umbilical hernia, Prolonged neonatal jaundice, Arrhythmia, Hypotension ORPHA:442
Mosaic Trisomy 9
Abnormal liver lobulation, Spina bifida, Intrauterine growth retardation, Asplenia ORPHA:99776
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Hepatomegaly, Pericarditis, Retinal hemorrhage, Elevated serum transaminases during infections, S... ORPHA:509
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Mitral regurgitation, Epistaxis, Anemia, Hepatic arteriovenous malformation, Hema... OMIM:175050
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Abnormal left ventricular function, Arrhythmia OMIM:618098
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Hemolytic anemia, Hepatomegaly, Abnormal cardiac ventricular function, Leukopenia, Increased T ce... ORPHA:797
Restrictive Dermopathy 1
Short umbilical cord, Intrauterine growth retardation, Premature rupture of membranes, Premature ... OMIM:275210
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Cardiomyopathy, Heart block, Hepatic steatosis, Hepatic fail... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Cardiomyopathy, Hepatic failure, Arrhythmia ORPHA:157
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Arrhythmia, Tricuspid regurgitation, Pulmonic stenosis ORPHA:228410
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Von Hippel-Lindau Syndrome
Hypertension, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver OMIM:193300
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Neutropenia, Arrhythmia, Hypertrophic cardiomyopathy OMIM:615471
Beckwith-Wiedemann Syndrome
Hepatomegaly, Subchorionic septal cyst, Premature birth, Hepatoblastoma, Polyhydramnios, Splenome... ORPHA:116
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Pancreatic cysts, Polycythemia, Palpitations, Neoplasm of the pancreas... ORPHA:892
Fabry Disease
Hypertension, Anemia, Myocardial infarction, Transient ischemic attack, Congestive heart failure,... OMIM:301500
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmon... ORPHA:94093
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Giant Cell Arteritis
Pericarditis, Epistaxis, Cerebral ischemia, Vasculitis, Hepatic failure, Sudden cardiac death, Ar... ORPHA:397
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Intrauterine growth retardation, Premature birth, Spontaneous abortion, Hepatoblast... ORPHA:96334
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... ORPHA:254892
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Sideroblastic anemia OMIM:530000
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... ORPHA:437572
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal spleen morphology,... ORPHA:85448
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Arrhythmia ORPHA:57
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Arrhythmia ORPHA:99845
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... ORPHA:1880
Chromosome 2Q37 Deletion Syndrome
Arrhythmia OMIM:600430
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Granulomatosis With Polyangiitis
Hypertension, Pericarditis, Epistaxis, Pancreatitis, Recurrent intrapulmonary hemorrhage, Cerebra... ORPHA:900
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Arrhythmia OMIM:300257
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Arrhythmia, Splenomegaly ORPHA:163746
Rheumatic Fever
Myocarditis, Epistaxis, Pericarditis, Arrhythmia ORPHA:3099
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Intrauterine growth retardation, Umbilical hernia, Arr... OMIM:614052
Craniofaciofrontodigital Syndrome
Mitral regurgitation, Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Congestive he... ORPHA:363705
Kawasaki Disease
Myocarditis, Leukocytosis, Pericarditis, Hepatitis, Vasculitis, Congestive heart failure, Cholecy... ORPHA:2331
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Carney Triad
Hypertension, Anemia, Tachycardia, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Juvenile Polyposis Syndrome
Epistaxis, Anemia, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Extrahepatic porta... ORPHA:2929
Familial Mediterranean Fever
Pericarditis, Peritonitis, Pancreatitis, Splenomegaly, Myocardial infarction, Acute hepatic failu... ORPHA:342
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Colchicine Poisoning
Myocarditis, Leukocytosis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, ... ORPHA:31824
Pagod Syndrome
Meningocele, Abnormality of the spleen, Spina bifida, Sudden cardiac death, Arrhythmia ORPHA:991
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Juvenile Dermatomyositis
Pericarditis, Telangiectasia of the skin, Cardiomyopathy, Bundle branch block, Gastrointestinal h... ORPHA:93672
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Noonan Syndrome
Abnormal bleeding, Abnormality of the spleen, Hepatomegaly, Arrhythmia ORPHA:648
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Bundle branch block, Pulmonic steno... ORPHA:500
Ogden Syndrome
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... OMIM:300855
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Ogden Syndrome
Arrhythmia, Cardiogenic shock ORPHA:276432
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Arrhythmia, Tricuspid regurgitation ORPHA:261211
Hec Syndrome
Arrhythmia, Cardiomyopathy ORPHA:2119
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Cockayne Syndrome A
Hepatomegaly, Hypertension, Intrauterine growth retardation, Splenomegaly, Arrhythmia OMIM:216400
Schinzel-Giedion Syndrome
Large earlobe, Infantile sensorineural hearing impairment, Aganglionic megacolon, Abnormality of ... ORPHA:798
Mucopolysaccharidosis Type 2
Hepatomegaly, Hypertension, Umbilical hernia, Cardiomyopathy, Splenomegaly, Arrhythmia ORPHA:580
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Atrioventricular block, Conjunct... ORPHA:324
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Arrhythmia OMIM:619184
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Umbilical hernia, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Hea... ORPHA:217085
Cockayne Syndrome B
Hepatomegaly, Hypertension, Intrauterine growth retardation, Splenomegaly, Arrhythmia OMIM:133540
Hennekam-Beemer Syndrome
Mastocytosis, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Umbilical hernia, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Hea... ORPHA:217093
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Splenomegaly, Microcytic anemia, Congestive heart failure, Elevated hepatic transam... OMIM:256040
Norrie Disease
Optic atrophy, Macrotia, Sensorineural hearing impairment, Protruding ear, Abnormal helix morphol... ORPHA:649
Hepatomegaly, Tachycardia, Splenomegaly, Abnormal bleeding, Hematemesis, Arrhythmia, Hypotension ORPHA:707
Arrhythmia ORPHA:1267
Foodborne Botulism
Arrhythmia ORPHA:228371
Reflex asystolic syncope, Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bl... ORPHA:79329
Branchial anomaly, Abnormality of the spleen, Spinal dysraphism, Arrhythmia ORPHA:2162
Tuberous Sclerosis Complex
Hypertension, Hepatic cysts, Internal hemorrhage ORPHA:805
Leber Optic Atrophy
Arrhythmia OMIM:535000
African Trypanosomiasis
Myocarditis, Hepatomegaly, Third degree atrioventricular block, Pericarditis, Splenomegaly, Secon... ORPHA:3385
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Superficial Siderosis
Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma, Subarachnoid hemorrhage ORPHA:247245
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Oculodentodigital Dysplasia
Arrhythmia, Umbilical hernia ORPHA:2710
Myocarditis, Pericarditis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocardia... ORPHA:221
Kleefstra Syndrome
Arrhythmia ORPHA:261494
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality ORPHA:2131
Kniest-Like Dysplasia, Lethal
Arrhythmia OMIM:245190
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Pulmonary arterial hypertension, Arrhythmia, Reduced ejection fraction ORPHA:258
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Umbilical hernia ORPHA:800
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Hepatic fibrosis, Abnormal li... ORPHA:79318
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Arrhythmia ORPHA:68
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hepatoblastoma, Cardiomyopathy, Splenomegaly, Pancreatic islet-cell hyperplasia, Pu... OMIM:312870
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Histiocytoid cardiomyopathy OMIM:309801
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Umbilical hernia ORPHA:1519
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Tricuspid regurgitatio... ORPHA:2556
Vascular Ehlers-Danlos Syndrome
Hypertension, Renovascular hypertension, Telangiectasia of the skin, Transient ischemic attack, A... ORPHA:286
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:218040
Rubinstein-Taybi Syndrome 1
Leukemia, Spina bifida occulta, Arrhythmia OMIM:180849
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Umbilical hernia ORPHA:285
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Stickler Syndrome
Arrhythmia ORPHA:828


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.

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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

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