Not currently registered for phenotyping at IMPC

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

Gene Summary

FMS-like tyrosine kinase 4
Flt-4,  VEGFR3,  VEGFR-3

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 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
Matching phenotypes Source
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, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... ORPHA:568051
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema ORPHA:1160
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... OMIM:619433
Lipedema, Edema OMIM:614103
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Malabsorption, Splenomegaly, Jaundice, C... OMIM:214900
Lymphatic Malformation 1
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... OMIM:153100
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... ORPHA:1414
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... ORPHA:1041
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Lymphatic Malformation 3
Cellulitis, Lymphedema OMIM:613480
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Fetal... OMIM:620014
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... ORPHA:26790
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... ORPHA:163596
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Glycogen Storage Disease Iv
Polyhydramnios, Portal hypertension, Edema, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... OMIM:232500
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Indomethacin Embryofetopathy
Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Intestinal l... OMIM:616006
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Lymphedema, Splenomegaly, Furrowed tongue, Ham... ORPHA:2930
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Lymphatic Malformation 4
Cellulitis, Pedal edema, Lymphedema OMIM:615907
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi... OMIM:602347
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Pericardial effusion, Ascites OMIM:256150
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Lymphatic Malformation 2
Lymphedema OMIM:611944
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphedema, Abnormality o... ORPHA:33276
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites ORPHA:2123
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Fetal Gaucher Disease
Death in infancy, Decreased fetal movement, Fetal akinesia sequence, Abnormality of the spleen, S... ORPHA:85212
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema OMIM:211890
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema OMIM:152800
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal edema, U... ORPHA:87876
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Abnormal aortic morphology, Hydrops fetalis, Polyhydramnios ORPHA:3405
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites OMIM:269920
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Lissencephaly 2
Lymphedema OMIM:257320
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Arthrogryposis multiplex congenita, Lymphedema OMIM:616342
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi... OMIM:618815
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Edema OMIM:603278
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Pulmonary embolism, Malabsorption, Abnormal intestin... OMIM:226300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Hypertrophic cardiomyopathy ORPHA:79279
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly... OMIM:235255
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hy... ORPHA:367
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Malabsorption ORPHA:1116
Lymphedema, Primary, With Myelodysplasia
Cellulitis, Lymphedema OMIM:614038
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Polyhydramnios, Lymphedema OMIM:618154
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage ORPHA:3226
Atypical scarring of skin, Lymphedema ORPHA:2485
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease OMIM:174050
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Intestinal l... ORPHA:90362
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphedema OMIM:607115
Hypersplenism, Splenomegaly, Hydrops fetalis ORPHA:846
Familial Atrial Myxoma
Tricuspid regurgitation, Congestive heart failure, Jaundice, Heart murmur, Pedal edema, Cholestas... ORPHA:615
Transaldolase Deficiency
Telangiectasia, Hydrops fetalis, Edema, Hepatosplenomegaly ORPHA:101028
Yellow Nail Syndrome
Biliary tract neoplasm, Pulmonary arterial hypertension, Hypoplasia of lymphatic vessels, Lymphedema ORPHA:662
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Ascites ORPHA:858
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios ORPHA:1046
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c... ORPHA:261519
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Telangiectas... OMIM:235200
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhea, Ascites ORPHA:75233
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Left v... OMIM:618052
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Mucopolysaccharidosis Type 7
Inguinal hernia, Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Umbilical hernia, Ascites ORPHA:584
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... ORPHA:90308
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p... ORPHA:1318
Lymphatic Malformation 10
Lymphedema OMIM:619369
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Edema OMIM:189800
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Ascites OMIM:256550
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Steatorrhea, Hematochezia, Prote... ORPHA:2070
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Ileus, Pedal edema ORPHA:168811
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis ORPHA:834
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Fulminant hepatitis, Hyper... OMIM:215600
German Syndrome
Camptodactyly of finger, Lymphedema, High palate, Dysphagia, Arthrogryposis multiplex congenita ORPHA:2077
Milroy Disease
Cellulitis, Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Generalized edema OMIM:207731
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopat... ORPHA:83469
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Atrial flutter, Lymphedema, Hydrops fetalis, Oligohydramnios OMIM:601927
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Lymphedema ORPHA:3137
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Cholestasis, Protein-losing enteropathy, Decreased liver function, Camptodac... OMIM:608104
Predominantly lower limb lymphedema, Edema, Lymphedema, Atypical scarring of skin, Lymphangiectasis ORPHA:182
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Greenberg Dysplasia
Lymphedema ORPHA:1426
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... ORPHA:57777
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Pedal edema, Lymphadenopathy, ... ORPHA:381
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, L... ORPHA:2176
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Splenomegaly, Abnormality of the lymphatic system, Hep... ORPHA:464329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... OMIM:235510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulm... OMIM:137940
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Tenosynovial Giant Cell Tumor
Joint swelling, Chondrocalcinosis, Lymphedema ORPHA:66627
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Edema, Death in childhood OMIM:602579
Al-Gazali-Bakalinova Syndrome
Inguinal hernia, Lymphedema OMIM:607131
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh... OMIM:614702
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites OMIM:608776
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud... OMIM:115197
Ring Chromosome 22 Syndrome
Lymphedema, Pleural effusion, Edema, Protruding tongue ORPHA:1446
Mulibrey Nanism
Hepatomegaly, Ascites, Hydrops fetalis, Congestive heart failure OMIM:253250
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Lymphedema OMIM:149000
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Monosomy 18P
Hypertension, Cleft palate, Lymphedema ORPHA:1598
Cantu Syndrome
Pericardial effusion, Umbilical hernia, Lymphedema OMIM:239850
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... ORPHA:779
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Hypersplenism, Hepatosplenomegal... ORPHA:98850
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Pyloric stenosis, Malabsorption, Splen... ORPHA:2136
Conjunctival telangiectasia, Visceromegaly, Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... OMIM:257200
Amyloidosis, Familial Visceral
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L... ORPHA:538
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polyhydramnios, Fetal akinesia sequence OMIM:619602
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypertension, Second degree atrioventricul... OMIM:617021
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Hydrops fetalis ORPHA:766
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Ovarian Fibroma
Mesenteric cyst, Pleural effusion, Ascites, Peritonitis ORPHA:314473
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Abnormality of subcutan... ORPHA:79325
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft palate, Chyloth... OMIM:153400
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Congenital Sialidosis Type 2
Abnormal EKG, Hepatomegaly, Inguinal hernia, Edema, Protruding tongue, Telangiectasia, Hepatosple... ORPHA:93400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Restrictive cardiomyop... OMIM:619313
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Cirrhosis, Pulmonar... ORPHA:77259
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Ascites ORPHA:99828
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia ORPHA:284227
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Lymphedema, Narrow pa... ORPHA:109
Noonan Syndrome 13
Gastroesophageal reflux, Mitral regurgitation, High palate, Lymphedema OMIM:619087
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Small vessel vascu... ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Ascites, Edema OMIM:611719
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intest... OMIM:200995
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Single umbilical artery, Pleural ef... OMIM:616897
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Pulmonary arterial h... OMIM:620244
Clapo Syndrome
Lymphangioma, Lymphedema ORPHA:168984
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Breech presentation, Congestive... OMIM:261740
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, I... ORPHA:464321
Familial Mediterranean Fever
Acute hepatic failure, Intestinal obstruction, Pericarditis, Myocardial infarction, Malabsorption... ORPHA:342
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Achondrogenesis, Type Ii
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema OMIM:200610
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... OMIM:607823
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... ORPHA:2035
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Hepatomegaly, Elevated circulating aspart... OMIM:619573
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocar... ORPHA:171
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmona... ORPHA:1655
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Edema, Splenomegaly, Flexion contracture, Lymphadenopathy, Generalized lipodystroph... OMIM:619183
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Celiac disease, Jaundice, Hepatic failure, Biliary ... ORPHA:186
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Poems Syndrome
Lipodystrophy, Edema, Pericardial effusion, Lymphadenopathy, Pulmonary arterial hypertension, Ple... ORPHA:2905
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio... OMIM:619487
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... ORPHA:139411
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Neop... ORPHA:97261
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, High palate, Epistaxis, Upper eyelid edema ORPHA:293939
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart fail... ORPHA:3386
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Edema, Raynaud phenomenon, Pericardial effusion, Lymph... ORPHA:93552
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Pleural effusion, ... OMIM:617397
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Absence of lymph node germinal ... ORPHA:79124
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Cerebrofacioarticular Syndrome
Anal stenosis, Lymphedema, Anteriorly placed anus, Pulmonic stenosis, Camptodactyly ORPHA:314679
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Nonimmune hydrops fetalis, Fetal pleural effusion OMIM:620167
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Hepatic failure, Ascites ORPHA:79239
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Hy... OMIM:230500
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... ORPHA:99868
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... ORPHA:567546
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess, Cellul... OMIM:306400
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatic failure, Hepatospl... OMIM:608013
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... OMIM:609015
Phelan-Mcdermid Syndrome
Palpebral edema, Lymphedema, Gastroesophageal reflux, High palate, Cellulitis OMIM:606232
Necrotizing Enterocolitis
Shock, Edema, Peritonitis, Bradycardia, Hypotension, Ascites ORPHA:391673
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Abno... ORPHA:97278
Perlman Syndrome
Distal ileal atresia, Polyhydramnios, Edema, Congenital diaphragmatic hernia, Pancreatic islet-ce... OMIM:267000
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Edema, P... OMIM:269860
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral regurgitation, Camptodactyly of toe, Ascites ORPHA:2848
Noonan Syndrome
Hepatomegaly, Lymphedema, Abnormality of the spleen, Abnormality of the lymphatic system, High pa... ORPHA:648
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... OMIM:276700
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Flexion contractu... ORPHA:333
Ovarian Fibrothecoma
Pleural effusion, Ascites, Peritonitis ORPHA:314478
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... OMIM:613563
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Takenouchi-Kosaki Syndrome
Inguinal hernia, Camptodactyly, Pulmonic stenosis, Lymphedema OMIM:616737
Neoplasm of the pancreas, Hepatomegaly, Malabsorption, Abnormal abdomen morphology, Intrahepatic ... ORPHA:97282
Lipodystrophy, Oligohydramnios, Hypotension, Edema OMIM:616000
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm... ORPHA:1667
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Protein-losing enteropathy... ORPHA:79319
Arthrogryposis Multiplex Congenita 6
Death in infancy, Decreased fetal movement, Polyhydramnios, Death in childhood, Neonatal death OMIM:619334
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Abno... ORPHA:97283
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Lymphedema ORPHA:2874
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Protein-losing enteropathy, Pleural... OMIM:618183
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Nonimmune hydrops fetalis OMIM:266200
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Lymphedema, Submucous cleft hard palate, Functional ab... ORPHA:1340
Trisomy 1Q
Increased nuchal translucency, Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios ORPHA:261344
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema, Orthostatic hypotension, Dysphagia ORPHA:2822
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s... OMIM:617156
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Ascites OMIM:614091
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
White Sponge Nevus 2
Edema OMIM:615785
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Edema ORPHA:158029
Lymphedema-Distichiasis Syndrome
Arrhythmia, Predominantly lower limb lymphedema, Cleft palate ORPHA:33001
Trisomy 13
Patent ductus arteriosus, Hydrops fetalis ORPHA:3378
Gm1 Gangliosidosis
Premature birth, Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenomegaly, Car... ORPHA:354
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Fetal akinesia sequence, Hydrops fetalis, Hypoplasia of the thymus, Oligohydram... OMIM:617022
Wells Syndrome
Vasculitis, Edema, Cellulitis ORPHA:901
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... ORPHA:329971
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... ORPHA:263665
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... ORPHA:100078
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:224120
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Hip contracture, Limb joint contracture, Nonimmune hydrops fetalis, Polyhydramnios,... OMIM:620369
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Ascites ORPHA:69665
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Absence of subcutaneous fat, Corneal scarring, Hypertension, Ename... OMIM:610965
Ogden Syndrome
Inguinal hernia, Pulmonary edema, Lymphedema, Microvesicular hepatic steatosis, Jaundice, Ventric... OMIM:300855
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic he... OMIM:613177
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Abnormality of the liver, Supraventricular tachycardia, Hep... ORPHA:97214
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function, Edema ORPHA:79278
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Lymphedema ORPHA:79280
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness ORPHA:1865
Immunodeficiency 22
Panniculitis, Pericarditis, Ascites, Capillary leak OMIM:615758
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Abno... ORPHA:97280
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Lymphedema, Abnormality of the lymphatic system, Flexion contracture, Camptodactyly ORPHA:487796
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Intestinal malrotation, Portal hypertension, Esop... OMIM:613658
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Panniculitis, Chylothorax, Cellulitis, Pleural effusion ORPHA:2526
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Polyhydramnios, Intrahepatic chol... OMIM:606812
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Melkersson-Rosenthal Syndrome
Edema, Periorbital edema, Lymphadenopathy, Furrowed tongue, Macroglossia ORPHA:2483
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Multiple joint contractures, Lymphedema, Flexion contracture, Elbow flexion cont... ORPHA:536471
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Edema, Polyhydramnios, Cardiomegaly... ORPHA:363705
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Edema ORPHA:33577
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology ORPHA:2330
Mosaic Trisomy 9
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Oligohydramnios ORPHA:99776
Spondyloocular Syndrome
Duodenal ulcer, Lymphedema OMIM:605822
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... ORPHA:99228
Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Lymphedema, Celiac d... ORPHA:99226
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Stillbirth, Hepatic failure, Ascites OMIM:259720
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Hepatosplenomegaly ORPHA:79255
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Jaundice, Ascites, Pancreatitis ORPHA:370348
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Splenomegaly, Hydrops fetalis, Pulmonary arterial hypertension ORPHA:77261
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hepatomegaly, Hydrops fetalis, Cardiomyopathy OMIM:253220
Hereditary Elliptocytosis
Splenomegaly, Hydrops fetalis ORPHA:288
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary artery... OMIM:265380
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Lymphedema OMIM:600268
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Kanzaki Disease
Lacunar stroke, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema OMIM:609242
Schneckenbecken Dysplasia
Polyhydramnios, Cleft palate, Lymphedema ORPHA:3144
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Ab... OMIM:212065
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Cleft ... ORPHA:1052
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahepatic bi... OMIM:619534
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Sudden cardiac death, Lymphedema, Pulmonar... ORPHA:744
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Protein-losing entero... OMIM:619991
Arrhythmia, Hydrops fetalis, Reflex asystolic syncope ORPHA:79329
Atresia Of Urethra
Pulmonary insufficiency, Ascites, Oligohydramnios ORPHA:105
Monosomy 22Q13.3
Umbilical hernia, Gastroesophageal reflux, Palpebral edema, Lymphedema ORPHA:48652
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrops fetalis,... OMIM:212093
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Pu... ORPHA:79282
Thickened nuchal skin fold, Decreased fetal movement, Hepatomegaly, Tricuspid regurgitation, Peri... ORPHA:79328
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus... OMIM:300868
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta ORPHA:50945
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Vasculitis, Hyd... ORPHA:3261
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Noonan Syndrome 1
Lymphedema, High, narrow palate, Cleft palate, High palate, Chylothorax, Pulmonic stenosis, Hyper... OMIM:163950
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Hepatic failure, Jaundice, Hydrops fetalis, Hepatosple... ORPHA:646
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Coarctation of aorta ORPHA:268249
Pearson Syndrome
Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Corneal... ORPHA:699
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Splenomegaly, Prolonged neonatal jau... OMIM:257220
Costello Syndrome
Lymphangiectasis, Polyhydramnios OMIM:218040
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration,... OMIM:243800
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged neonatal jaundice,... OMIM:607625
Cranioectodermal Dysplasia 2
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hypertension, Polysplenia OMIM:613610
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios OMIM:616546
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration, Death in childhood OMIM:557000
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Esophageal stricture, Flexion contracture, Xerostomia, ... ORPHA:99921
Meacham Syndrome
Accessory spleen, Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:608978
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hydrops fetalis OMIM:265000
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... ORPHA:51608
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis OMIM:263520
Cardiac-Urogenital Syndrome
Atrial septal defect, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular s... OMIM:618280
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Lipody... ORPHA:79318
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Pe... ORPHA:199241
Gaucher Disease
Splenomegaly, Hepatomegaly, Hydrops fetalis, Pulmonary arterial hypertension ORPHA:355
Hepatoerythropoietic Porphyria
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Cutis Marmorata Telangiectatica Congenita
Ascites, Telangiectasia of the skin ORPHA:1556
Yunis-Varon Syndrome
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Renovascular hypertension, Hypert... ORPHA:3472
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... ORPHA:141127
Tetralogy Of Fallot
Intrauterine growth retardation, Tetralogy of Fallot ORPHA:3303
Congenital Erythropoietic Porphyria
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Diamond-Blackfan Anemia
Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta ORPHA:124
Yunis-Varon Syndrome
Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmonary arteria... OMIM:216340
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis OMIM:191100
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis OMIM:613254
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Tuberous Sclerosis Complex
Aortic aneurysm, Pulmonary lymphangiomyomatosis ORPHA:805
Hemangioma, Capillary Infantile


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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