Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
FMS-like tyrosine kinase 4
Synonyms:
Flt-4,  VEGFR3,  VEGFR-3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Flt4 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 Flt4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Flt4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Ascites, Chylous
Chylous ascites OMIM:208300
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Fetal pericardial effusion, Fetal pleural effusion... OMIM:619462
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedem... ORPHA:568051
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153300
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Chylous Ascites
Abnormal intestine morphology, Lymphedema, Pancreatitis, Ascites ORPHA:1160
Lipedema
Lipedema, Edema OMIM:614103
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Restrictive cardiomyopathy, Ascites, Tric... OMIM:619433
Hydrops Fetalis
Polyhydramnios, Abnormality of the gastrointestinal tract, Capillary leak, Abnormality of the lym... ORPHA:1041
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphedema, Pleural... ORPHA:545
Lymphatic Malformation 3
Cellulitis, Lymphedema OMIM:613480
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymph... OMIM:214900
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Death in adolescence, Fetal pericardial effusion, Fetal pleural effus... OMIM:620014
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Fetal distress, Abnormal QRS complex, Hydrops fetalis, Redu... ORPHA:45452
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of... ORPHA:26790
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Polyhydramnios, Hepatomegaly, Pericarditis, Splenomega... ORPHA:163596
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Meige Disease
Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Lymphedema, Pleur... ORPHA:90186
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema, Pulmonary arterial hypertension OMIM:152900
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Anasarca, Cirrhosis, Lymphedema, Pleural effusion, Celiac disease, Gastro... ORPHA:90363
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema, High palate OMIM:613611
Glycogen Storage Disease Iv
Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Esophageal varix, Cardiomyopathy, Ascite... OMIM:232500
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Sy... ORPHA:60041
Indomethacin Embryofetopathy
Premature birth, Cardiomyopathy, Hydrops fetalis, Oligohydramnios ORPHA:1909
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Splenomegaly, Hepatomegaly ORPHA:2204
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Cirrhosis, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the lymphat... ORPHA:69735
Lymphatic Malformation 4
Cellulitis, Lymphedema, Pedal edema OMIM:615907
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema, Camptodactyly, Pulmonary l... OMIM:616006
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Lymphangiectasia, Intestinal
Edema, Stillbirth, Intestinal lymphangiectasia, Pedal edema OMIM:152800
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Lymphedema, Abnormality of the spleen, Abnormality of ... ORPHA:33276
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Ascites, Premature birth ORPHA:2123
Lymphatic Malformation 6
Intestinal lymphangiectasia, Polyhydramnios, Gastroesophageal reflux, Chylothorax, Genital edema,... OMIM:616843
Campomelia, Cumming Type
Lymphedema, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Chondrodysplasia, Blomstrand Type
Stillbirth, Hydrops fetalis, Polyhydramnios, Preductal coarctation of the aorta, Premature birth,... OMIM:215045
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Stomach cancer, Lymphedema, Furrowed tongue, Hamartomatous po... ORPHA:2930
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Death in infancy, Neonatal death, Abnormality of the spleen, Splenom... ORPHA:85212
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:131
Sialidosis Type 2
Hydrops fetalis, Hepatomegaly, Inguinal hernia, Ascites, Flexion contracture, Splenomegaly, Umbil... ORPHA:87876
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Splen... OMIM:608540
Achondrogenesis, Type Ib
Stillbirth, Hydrops fetalis, Polyhydramnios, Breech presentation, Edema OMIM:600972
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis ORPHA:3405
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Premature birth, Splenomegaly OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Lissencephaly 2
Lymphedema OMIM:257320
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... ORPHA:64743
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Lissencephaly 7 With Cerebellar Hypoplasia
Arthrogryposis multiplex congenita, Neonatal death, Lymphedema OMIM:616342
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia... OMIM:618815
Focal Segmental Glomerulosclerosis 1
Edema, Hypertension, Pleural effusion, Ascites OMIM:603278
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly ORPHA:890
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Lymphedema, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Hepatomegaly, Protein-losing enteropathy, Inguinal hernia, Pancreatic lymphangiec... OMIM:235255
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Polyhydramnios, Elevated circulati... ORPHA:367
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Protein-losing enteropathy, Lymphedema OMIM:618154
Lymphedema, Primary, With Myelodysplasia
Cellulitis, Lymphedema OMIM:614038
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Lymphadenopathy, Lymphedema, Splenomegaly, Intracranial hemorrhage ORPHA:3226
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Abnormal lymphatic vessel morphology, Ascites, Pleural effusion, Gen... ORPHA:90362
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Telangiectasia ORPHA:101028
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Cholestasis, Ascites, Tricuspid regurgitation, Heart murmur, ... ORPHA:615
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Intestinal lymphangiectasia, Hepatomegaly, Abnormal intestine morphology,... OMIM:226300
Yellow Nail Syndrome
Pulmonary arterial hypertension, Lymphedema, Biliary tract neoplasm, Hypoplasia of lymphatic vessels ORPHA:662
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease OMIM:174050
Melorheostosis
Atypical scarring of skin, Lymphedema ORPHA:2485
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Polyhydramnios, Oligohydramnios, Splenomegaly ORPHA:1046
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatomegaly,... ORPHA:858
Wolman Disease
Steatorrhea, Hepatomegaly, Esophageal varix, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Predominantly lower limb lymphedema, Camptodactyly of finger, Flexion c... ORPHA:261519
Mucopolysaccharidosis Type 7
Hydrops fetalis, Inguinal hernia, Lymphedema, Ascites, Splenomegaly, Umbilical hernia, Hepatitis ORPHA:584
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Campomelia, Cumming Type
Hepatomegaly, Hydrops fetalis, Lymphedema, Pancreatic cysts, Abnormal intestine morphology, Cleft... ORPHA:1318
Lymphatic Malformation 10
Lymphedema OMIM:619369
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Hepatomegaly, Ascites, In... ORPHA:90308
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Cirrhosis, Familial
Cirrhosis, Jaundice, Fulminant hepatitis, Hypertension, Esophageal varix, Ascites, Biliary cirrho... OMIM:215600
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abnormal pe... ORPHA:83469
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Ascites, Pedal edema ORPHA:168811
German Syndrome
Lymphedema, High palate, Camptodactyly of finger, Dysphagia, Arthrogryposis multiplex congenita ORPHA:2077
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Cardiomyopathy, Ascites, Splenomegaly, Facial edema OMIM:256550
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Protein-losing enteropathy, Cholestasis, Ascites, Camptod... OMIM:608104
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia OMIM:207731
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Atrial flutter, Lymphedema, Omphalocele, Oligohydramnios OMIM:601927
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Pulmonary edema, Cirrhosis, Jaundice, Hepatomegaly, Prolonged... ORPHA:57777
Free Sialic Acid Storage Disease
Splenomegaly, Hydrops fetalis, Ascites, Hepatomegaly ORPHA:834
Milroy Disease
Cellulitis, Lymphedema, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit... OMIM:615710
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Gastroesophageal reflux ORPHA:3137
Greenberg Dysplasia
Lymphedema ORPHA:1426
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Chromomycosis
Lymphangiectasis, Predominantly lower limb lymphedema, Lymphedema, Edema, Atypical scarring of skin ORPHA:182
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:2137
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal ly... ORPHA:464329
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Ascites, Hema... ORPHA:2070
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Splenomegaly, Hepatitis, Peda... ORPHA:381
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Rectal prolapse, Protei... OMIM:235510
Congenital Disorder Of Glycosylation, Type Ib
Edema, Lymphangiectasis, Death in childhood OMIM:602579
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Palpebral edema, Lymphedema, Reduced subcutaneous adipose ti... OMIM:137940
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Pulmonary lymphangiectasia OMIM:247410
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Hepatomegaly, Ascites, Pericardial effusion, Splenomegaly, Lipodystrophy, Villou... OMIM:608776
Al-Gazali-Bakalinova Syndrome
Lymphedema, Inguinal hernia OMIM:607131
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Oligoh... OMIM:614702
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effus... ORPHA:846
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left v... OMIM:115197
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Polyhydramnios, Hydrops fetalis, Pleural effusion, Cardiomyopathy, H... ORPHA:292
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polyhydramnios, Fetal akinesia sequence, Neonatal death OMIM:619602
Ring Chromosome 22 Syndrome
Edema, Lymphedema, Pleural effusion, Protruding tongue ORPHA:1446
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, ... ORPHA:154
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Cerebral ... ORPHA:137667
Infantile Systemic Hyalinosis
Steatorrhea, Abnormality of the gastrointestinal tract, Lymphedema, Camptodactyly of finger, Tela... ORPHA:2176
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphadenopathy, Ascites, Hepatosplenomegaly, Splenomegaly OMIM:615122
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema, Chondrocalcinosis, Joint hemorrhage ORPHA:66627
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Ascites, Hepatomegaly OMIM:253250
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Lymphedema OMIM:149000
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac... ORPHA:100085
Monosomy 18P
Lymphedema, Hypertension, Cleft palate ORPHA:1598
Cantu Syndrome
Pericardial effusion, Lymphedema, Umbilical hernia OMIM:239850
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp... ORPHA:779
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphadenopathy, Chylopericardium, Chylothorax, Abnormality of the l... ORPHA:538
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Visceromegaly, Hepatosplenomegaly OMIM:256540
Tafro Syndrome
Hepatomegaly, Lymphadenopathy, Pleural effusion, Ascites, Hepatosplenomegaly, Splenomegaly, Anasarca ORPHA:457077
Niemann-Pick Disease, Type A
Hepatomegaly, Lymphadenopathy, Ascites, Elevated circulating alanine aminotransferase concentrati... OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Pleural effusion, Ascites, Elevated circulating alanine aminotransferase con... OMIM:617049
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Lymphedema, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Hepatosplenomegaly OMIM:616738
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly ORPHA:766
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, Nonimmune hyd... OMIM:617021
Alg8-Cdg
Hydrops fetalis, Elevated circulating hepatic transaminase concentration, Abnormality of the gast... ORPHA:79325
Parkes Weber Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... ORPHA:90307
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Ovarian Fibroma
Mesenteric cyst, Pleural effusion, Ascites, Peritonitis ORPHA:314473
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft palate, Nonimmune hydrops fet... OMIM:153400
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Death in infancy OMIM:618835
Fabry Disease
Congestive heart failure, Angina pectoris, Lymphedema, Hypertension, Transient ischemic attack, A... OMIM:301500
Hennekam Syndrome
Hydrops fetalis, Lymphadenopathy, Chylothorax, Lymphedema, Ascites, Pyloric stenosis, Camptodacty... ORPHA:2136
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Death in infancy OMIM:618839
Amyloidosis, Familial Visceral
Hepatomegaly, Hypertension, Cholestasis, Splenomegaly, Edema OMIM:105200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial effusion, Hypoplastic spleen, N... OMIM:619313
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ascites, Protruding tongue, Hepatosplenomegaly, Umbilical hernia, ... ORPHA:93400
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip... ORPHA:64739
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Lymphadenopathy, Pleural effusion, Ascites, Angioedema, Pe... ORPHA:36412
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Lymphadenopathy, Ascites, Portal hypertens... ORPHA:98850
Lymphatic Malformation 13
Lymphedema, Ascites, Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, ... OMIM:620244
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Ascites, Chronic noninfectious lymphadenopathy,... ORPHA:100086
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Combined Oxidative Phosphorylation Deficiency 5
Edema, Ascites, Hypertrophic cardiomyopathy OMIM:611719
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Tempi Syndrome
Transudative pleural effusion, Ascites, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Hypotension, Ascites, Epistaxis, Cerebral hemorrhage ORPHA:99828
Noonan Syndrome 13
High palate, Lymphedema, Mitral regurgitation, Gastroesophageal reflux OMIM:619087
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites, Hypertrophic... OMIM:616897
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Lipoma, Angina pectoris, Lymphedema, Abnormal large intestin... ORPHA:109
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Abnorma... ORPHA:464321
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Congestive heart failure, Breech presentation, Bradycardia, ST segment elevation... OMIM:261740
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hypoplasia of the small intestine, Ascites, Omphalocele, Hypoplastic colon, Hepatic... OMIM:200995
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Pleural effusion, Ascites, Pulmonary arterial hypertension, Viscer... ORPHA:2905
Clapo Syndrome
Lymphangioma, Lymphedema ORPHA:168984
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Predominantly lower limb lymphedema, Abnormality of the lympha... ORPHA:2035
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the... ORPHA:171
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymph... OMIM:607823
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Steato... ORPHA:186
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hypertension, Cholestasis, As... ORPHA:84081
Immunodeficiency 87 And Autoimmunity
Hypertension, Cholestasis, Ascites, Anasarca, Hepatic steatosis, Oligohydramnios, Jaundice, Pulmo... OMIM:619573
Achondrogenesis, Type Ii
Edema, Polyhydramnios, Stillbirth, Hydrops fetalis OMIM:200610
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Hepatomegaly, Protein-losing enteropathy, Inguinal hernia, Pancreatic lymphangiec... ORPHA:1655
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Panniculitis, Lymphadenopathy, Hepatomegaly, Flexion contracture, Sple... OMIM:619183
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Card... ORPHA:3386
Thymic Carcinoma
Palpebral edema, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Neoplasm of the thym... ORPHA:99868
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ... OMIM:619487
Distal Xq28 Microduplication Syndrome
High palate, Epistaxis, Upper eyelid edema, Predominantly lower limb lymphedema ORPHA:293939
Carney Triad
Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertension, Ascites,... ORPHA:139411
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphadenopathy, Pleural effusion, Ascites, Pericardia... ORPHA:93552
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infarction, Ascites, ... ORPHA:77259
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole... ORPHA:97261
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Pleural effus... OMIM:617397
Gracile Bone Dysplasia
Hypoplastic spleen, Ascites, Ankyloglossia, Asplenia OMIM:602361
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Pulmonary venous ... ORPHA:75565
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chronic hepatic ... ORPHA:79124
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Hypertension, Pleural effusion, Ascites, Edema, Anasarca, Facial edema, Pulmonar... ORPHA:567546
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Biliary hyperplasia, Splenomegal... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Cerebrofacioarticular Syndrome
Anal stenosis, Lymphedema, Camptodactyly, Pulmonic stenosis, Anteriorly placed anus ORPHA:314679
Combined Oxidative Phosphorylation Deficiency 57
Fetal pleural effusion, Neonatal death, Nonimmune hydrops fetalis, Death in infancy OMIM:620167
Classic Galactosemia
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatic... ORPHA:79239
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Pleural effusion, Lymphadenitis, As... OMIM:306400
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Hepatomegaly, Ascites, Neonatal death, Nonimmune hydrops fetalis, Hepatosplenomeg... OMIM:608013
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegal... OMIM:230500
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Camptodactyly of toe, Camptodactyly of finger, Pericarditis, Mitral regurgitation ORPHA:2848
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Abnormality of the amniotic fluid, Arrhythmia, Dilated... OMIM:609015
Perlman Syndrome
Congenital diaphragmatic hernia, Distal ileal atresia, Polyhydramnios, Visceromegaly, Ascites, Vo... OMIM:267000
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole... ORPHA:97278
Phelan-Mcdermid Syndrome
Palpebral edema, Gastroesophageal reflux, Lymphedema, High palate, Cellulitis OMIM:606232
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus OMIM:601612
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Nonimmune hydrops fetalis, Severely reduced left ventricular ejection f... OMIM:620609
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Hepatomegaly, Inguinal hernia, Periportal fibrosis, Ascites, Median cleft palate,... OMIM:269860
Lysosomal Acid Lipase Deficiency
Decreased liver function, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concen... ORPHA:275761
Familial Mediterranean Fever
Intestinal obstruction, Myocardial infarction, Gastrointestinal infarctions, Pancreatitis, Lympha... ORPHA:342
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Chylothorax, Lymphedema, Aortic valve stenosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613563
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Farber Disease
Hydrops fetalis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intrah... ORPHA:333
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Lymphedema, Camptodactyly, Inguinal hernia OMIM:616737
Ovarian Fibrothecoma
Pleural effusion, Ascites, Peritonitis ORPHA:314478
Adams-Oliver Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Esophageal varix, Ascites, Portal hypertension, Pulmonary... ORPHA:974
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Dehydration, Asc... ORPHA:1667
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Protein-losing enteropathy, Pleural effusion, Ascites, Pericardial effusion, Hema... OMIM:618183
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastrointestina... OMIM:276700
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, ... ORPHA:79319
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in childhood, Death in infancy, Neonatal death, Decreased fetal movement OMIM:619334
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Gallbladder dysfun... ORPHA:97283
Phakomatosis Pigmentokeratotica
Lymphedema, Raynaud phenomenon, Arrhythmia ORPHA:2874
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Necrotizing Enterocolitis
Bradycardia, Hypotension, Ascites, Peritonitis, Edema, Shock ORPHA:391673
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly OMIM:266200
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Functional abnormality of the gastrointestinal tract, ... ORPHA:1340
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Noonan Syndrome
Hepatomegaly, Abnormality of the lymphatic system, Lymphedema, High palate, Hypertrophic cardiomy... ORPHA:648
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Polyhydramnios, Elevated circulating hepatic transaminase co... OMIM:617156
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Short uvula, High palate, Ascites, Cleft palate, Hepatic fibrosis OMIM:614091
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Increased nuchal translucency ORPHA:261344
Fabry Disease
Congestive heart failure, Angina pectoris, Lymphedema, Hypertension, Transient ischemic attack, H... ORPHA:324
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema, Orthostatic hypotension, Dysphagia ORPHA:2822
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Cholecystitis, Abnorm... ORPHA:69665
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Protein-losing enteropathy, Dehydration, Hematochezia ORPHA:103910
Lymphedema-Distichiasis Syndrome
Arrhythmia, Cleft palate, Predominantly lower limb lymphedema ORPHA:33001
Trisomy 13
Hydrops fetalis, Patent ductus arteriosus ORPHA:3378
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Cardiomyopathy, Premature birth, Hepatosplenomegaly, S... ORPHA:354
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Fetal akinesia sequence, Hypoplasia of the thymus, Overriding aorta, Oligohydram... OMIM:617022
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Hematochezia, Coloni... ORPHA:263665
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Hepatomegaly, Shoulder flexion contracture, Elbow flexion contracture, Pleural ef... OMIM:620369
Wilson Disease
Cirrhosis, Chondrocalcinosis, Portal fibrosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, ... OMIM:277900
Fraser Syndrome 3
Stillbirth, Sonographic non-visualized fetal bladder, Ascites, Nonimmune hydrops fetalis, Oligohy... OMIM:617667
Xfe Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Hypertension, Ascites, Corneal scarring,... OMIM:610965
Ogden Syndrome
Narrow palate, Pulmonary edema, Jaundice, Macrovesicular hepatic steatosis, Inguinal hernia, Micr... OMIM:300855
Ileal Neuroendocrine Tumor
Gastrointestinal obstruction, Elevated circulating hepatic transaminase concentration, Lymphadeno... ORPHA:100078
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Splenomegaly, Hepatomegaly OMIM:224120
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Inguinal hernia, Accessory spleen, Gastroesophageal reflux, Morgagni diaphragmat... OMIM:613177
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Diffuse alveolar hemorr... ORPHA:99827
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Eisenmenger Syndrome
Ascites, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure... ORPHA:97214
Vipoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Abnormal abdomen morphology, De... ORPHA:97282
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness ORPHA:1865
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Abnormality of the lymphatic system, Lymphedema, Camptodactyly, Flexion contracture ORPHA:487796
Immunodeficiency 22
Capillary leak, Pericarditis, Panniculitis, Ascites OMIM:615758
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole... ORPHA:97280
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase... OMIM:613658
Achondrogenesis, Type Ia
Stillbirth, Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Absence of stomach bu... OMIM:200600
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis, Edema,... ORPHA:329971
Schneckenbecken Dysplasia
Stillbirth, Polyhydramnios, Nonimmune hydrops fetalis OMIM:269250
Fumarase Deficiency
Polyhydramnios, Intrahepatic cholestasis, Necrotizing enterocolitis, High palate, Ascites, Reduce... OMIM:606812
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Splenomegaly OMIM:613673
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Panniculitis, Chylothorax, Lymphedema, Pleural effusion, Edema, Cellulitis ORPHA:2526
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Atrophic scars, Elbow flexion contracture, Lymphedema, Pulmonic stenosis, Aortic... ORPHA:536471
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Lymphadenopathy, Premature birth, Hepatosplenomegaly ORPHA:499009
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Kasabach-Merritt Phenomenon
Abnormal lymphatic vessel morphology ORPHA:2330
Spondyloocular Syndrome
Duodenal ulcer, Lymphedema OMIM:605822
Mosaic Trisomy 9
Single umbilical artery, Polyhydramnios, Hydrops fetalis, Asplenia, Oligohydramnios ORPHA:99776
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Elevate... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Elevate... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Elevate... ORPHA:99228
Monosomy X
Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, High, narrow palate, Elevate... ORPHA:99226
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Cardiomyopathy, Hydrops fetalis, Hepatosplenomegaly ORPHA:79255
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hepatomegaly, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatic failure OMIM:259720
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Neona... OMIM:215140
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Melkersson-Rosenthal Syndrome
Lymphadenopathy, Furrowed tongue, Periorbital edema, Edema, Macroglossia ORPHA:2483
Kanzaki Disease
Lacunar stroke, Lymphedema, Telangiectasia of the oral mucosa, Lip telangiectasia OMIM:609242
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:253220
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ascites, Limb joint contracture, Flexion contracture, Splenomegaly, Micronodular ci... OMIM:301072
Gaucher Disease Type 3
Hydrops fetalis, Hepatomegaly, Pulmonary arterial hypertension, Pericardial effusion, Splenomegaly ORPHA:77261
Immunodeficiency 115 With Autoinflammation
Neonatal omphalitis, Intestinal lymphangiectasia, Splenomegaly OMIM:620632
Oculoectodermal Syndrome
Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy OMIM:600268
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Jaundice, Neoplasm of the pancreas, Pancreatitis, Ascites ORPHA:370348
Schneckenbecken Dysplasia
Polyhydramnios, Cleft palate, Lymphedema ORPHA:3144
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Single umbilical artery, Polyhydramnios, Partial anomalous pulmonary venous return, Hypoplastic a... OMIM:265380
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Abnormality of the amniotic fluid, Death in infancy, Pericardial effusion, St... OMIM:212065
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Intestinal polyposis, Aortic regurgitation, Stomach cancer, Ascites, Increased nu... ORPHA:1052
Atresia Of Urethra
Pulmonary insufficiency, Oligohydramnios, Ascites ORPHA:105
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary cirrhosis, Left-to-right shunt, ... OMIM:619534
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Valvular pulmonary stenosis, Tricuspid stenosis, Tricuspid regurgitation, Subpul... OMIM:212093
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Splenic cyst, Tricuspid regurgitation, Retinal hemorrhage, Cerebral edema, Cereb... OMIM:620371
Monosomy 22Q13.3
Palpebral edema, Lymphedema, Gastroesophageal reflux, Umbilical hernia ORPHA:48652
Hereditary Elliptocytosis
Hydrops fetalis, Splenomegaly ORPHA:288
Mgat2-Cdg
Reflex asystolic syncope, Hydrops fetalis, Arrhythmia ORPHA:79329
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega... OMIM:619991
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Lipoma, Abnormal dental enamel morphology, Lymphed... ORPHA:744
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Alg9-Cdg
Hydrops fetalis, Hepatomegaly, Tricuspid regurgitation, Thickened nuchal skin fold, Pericardial e... ORPHA:79328
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration, Pulmonary arterial hypertension, Dilated cardiomyopathy, Pulmonary ... ORPHA:79282
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Hydrops fetalis, Fetal polyuria, Premature birth, Edema OMIM:602522
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Spontaneous,... ORPHA:2929
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Blomstrand Lethal Chondrodysplasia
Hydrops fetalis, Polyhydramnios, Premature birth, Coarctation of aorta ORPHA:50945
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech presentation, Polyhydramnios... OMIM:300868
Niemann-Pick Disease Type C
Hydrops fetalis, Jaundice, Hepatomegaly, Ascites, Hepatosplenomegaly, Splenomegaly, Dysphagia, Ab... ORPHA:646
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Hepatomegaly, Lymphadenopathy, Vasculitis, Chronic noninfectious lymphadenopathy... ORPHA:3261
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Noonan Syndrome 1
High, narrow palate, Chylothorax, Lymphedema, High palate, Hypertrophic cardiomyopathy, Pulmonic ... OMIM:163950
Pearson Syndrome
Hydrops fetalis, Hepatomegaly, Corneal stromal edema, Dehydration, Cardiomyopathy, Hypoplastic sp... ORPHA:699
Niemann-Pick Disease, Type C1
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Fatal liver failure in infancy, Dysphagi... OMIM:257220
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis ORPHA:268249
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Costello Syndrome
Polyhydramnios, Lymphangiectasis OMIM:218040
Chronic Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Abnormal esophagus physiology, Gastroeso... ORPHA:99921
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hepatomegaly, Hydrops fetalis, Premature birth, Hepatosplenomegaly, Sple... OMIM:620376
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Hypertension, Splenomegaly, Polysplenia OMIM:613610
Niemann-Pick Disease, Type C2
Polyhydramnios, Jaundice, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Dysphagia, Fet... OMIM:607625
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Increased nuchal translucency, ... OMIM:208150
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis OMIM:616546
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Rectovaginal fistula, Anteriorly placed anus, Ascites, Po... OMIM:243800
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration, Death in childhood OMIM:557000
Meacham Syndrome
Single umbilical artery, Stillbirth, Transposition of the great arteries, Partial anomalous pulmo... OMIM:608978
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Decreased fetal movement OMIM:265000
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Hemothorax, Pleural effusion, Abnormal pulmo... ORPHA:199241
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Fetal distress, Hydrops fetalis, Polyhydramnios, Stroke, Transient is... ORPHA:51608
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Pa... OMIM:618280
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Tricuspid regurgitation OMIM:263520
Noonan Syndrome 2
Abnormal coronary artery origin, Polyhydramnios, Increased nuchal translucency, Pulmonary artery ... OMIM:605275
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir... ORPHA:79318
Gaucher Disease
Hydrops fetalis, Hepatomegaly, Splenic infarction, Pulmonary arterial hypertension, Splenic ruptu... ORPHA:355
Hepatoerythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amniotic fluid ORPHA:95159
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Ascites ORPHA:1556
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, I... ORPHA:3472
Congenital Tracheal Stenosis
Polyhydramnios, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophagea... ORPHA:141127
Tetralogy Of Fallot
Intrauterine growth retardation, Tetralogy of Fallot ORPHA:3303
Congenital Erythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amniotic fluid ORPHA:79277
Diamond-Blackfan Anemia
Coarctation of aorta, Nonimmune hydrops fetalis, Radial artery aplasia ORPHA:124
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension, Premature birth... OMIM:216340
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Hemangioma, Capillary Infantile
OMIM:602089

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Flt4

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 Flt4.

No publications found that use IMPC mice or data for Flt4.

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MGI Allele Allele Type Produced
Flt4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Flt4tm262168(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Flt4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Flt4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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