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
Fetal cystic hygroma, Stillbirth, Hydrops fetalis OMIM:257350
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Facial edema, Genital edem... ORPHA:568051
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis OMIM:236750
Lymphatic Malformation 5
Hypoplasia of lymphatic vessels, Facial edema, Predominantly lower limb lymphedema OMIM:153200
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema OMIM:153300
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Ascites, Restrictive cardiomyopathy, Tricuspid regurgitati... OMIM:619433
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Ascites, Lymphedema ORPHA:1160
Edema, Lipedema OMIM:614103
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Jaundice, Neonatal cholestatic liver diseas... OMIM:214900
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Multiple lipomas, Abnormality of the lym... ORPHA:1414
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hypoplasia of lymphatic vessels, Prominent superficial veins, Hyperker... OMIM:153100
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramni... OMIM:265300
Lymphatic Malformation 3
Cellulitis, Lymphedema OMIM:613480
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Pleura... ORPHA:545
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Paroxysmal supraventricular t... ORPHA:45452
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormality of the lymp... ORPHA:1041
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Preeclampsia, Pericarditis, Polyhydramnios, Splenomegaly, Oligohydramnios, Congesti... ORPHA:163596
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality of the peritoneum, Her... ORPHA:26790
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Malabsorption, Spleno... ORPHA:100025
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval, Hydrops fetalis OMIM:618052
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Angioedema, Hereditary, 6
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Hydrops fetalis, Splenomegaly OMIM:613673
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Lymph node hypoplasia, Facial ... ORPHA:90186
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Celiac disease, Increased stool alpha1-anti... ORPHA:90363
German Syndrome
Arthrogryposis multiplex congenita, Lymphedema OMIM:231080
Glycogen Storage Disease Iv
Esophageal varix, Ascites, Edema, Cardiomyopathy, Polyhydramnios, Arthrogryposis multiplex congen... OMIM:232500
Choanal Atresia And Lymphedema
High palate, Pericardial effusion, Lymphedema OMIM:613611
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Lymphedema, Intestinal lymphangiectasia, Camptodactyly, Pericardial l... OMIM:616006
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Dysplastic Cortical Hyperostosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Indomethacin Embryofetopathy
Premature birth, Oligohydramnios, Cardiomyopathy, Hydrops fetalis ORPHA:1909
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Ascites, Hepatocellular carcinoma, Epistaxis, Nodular regenerativ... OMIM:619463
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Ascites, Abnormality of the lymphatic system, Palpebral edema, Palmar tel... ORPHA:69735
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Protein-losing enteropathy, Lymphedema OMIM:618154
Cronkhite-Canada Syndrome
Lymphedema, Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Malabsorpt... ORPHA:2930
Lymphatic Malformation 2
Lymphedema OMIM:611944
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Premature birth, Polyhydramnios, Hydrops fetalis ORPHA:2123
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormality of ... ORPHA:33276
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Pericardial effusion, Ascites OMIM:256150
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Abnormality of the amnioti... OMIM:608540
Campomelia, Cumming Type
Polysplenia, Pancreatic cysts, Polycystic liver disease, Lymphedema OMIM:211890
Chondrodysplasia, Blomstrand Type
Premature birth, Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:215045
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Ascites, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepa... OMIM:617156
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Edema, Stillbirth, Pedal edema OMIM:152800
Achondrogenesis, Type Ib
Edema, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis OMIM:600972
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Varicose v... OMIM:617300
Lymphatic Malformation 4
Cellulitis, Lymphedema OMIM:615907
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Genital edema, Facial edema, Intestinal l... OMIM:616843
Sialidosis Type 2
Hepatomegaly, Ascites, Inguinal hernia, Splenomegaly, Flexion contracture, Pedal edema, Umbilical... ORPHA:87876
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Fetal Gaucher Disease
Abnormality of the spleen, Death in infancy, Fetal akinesia sequence, Neonatal death, Decreased f... ORPHA:85212
Lymphedema, Primary, With Myelodysplasia
Cellulitis, Lymphedema OMIM:614038
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Abnormal aortic morphology, Polyhydramnios ORPHA:3405
Lissencephaly 7 With Cerebellar Hypoplasia
Arthrogryposis multiplex congenita, Lymphedema OMIM:616342
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Premature birth, Splenomegaly, Congestive heart failure, Hydrops fetalis OMIM:269920
Lissencephaly 2
Lymphedema OMIM:257320
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Gastric varix, Splenomegaly, Nodular regener... ORPHA:64743
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia sequence, Bradycardia, Hydrop... OMIM:618815
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Ascites, Jaundice ORPHA:890
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Ascites, Polyhydramnios, Spl... OMIM:235255
Atypical scarring of skin, Lymphedema ORPHA:2485
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Hepatomegaly, Telangiectasia, Telangiectasia of the skin, Lymphedema ORPHA:79279
Hypersplenism, Hydrops fetalis, Splenomegaly ORPHA:846
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphedema ORPHA:1116
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Ascites OMIM:174050
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, High palate, Pulmonary arterial hypertension, Oligohydramnios, Gastroesophageal ref... OMIM:613623
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Esophageal varix, Ascites, Polyh... ORPHA:367
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly, Lymphedema OMIM:607115
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Intracranial hemorrhage, Lymphadenopathy, Splenomegaly, Lymphedema ORPHA:3226
Familial Atrial Myxoma
Ascites, Tricuspid regurgitation, Jaundice, Congestive heart failure, Cholestasis, Pedal edema, H... ORPHA:615
Transaldolase Deficiency
Telangiectasia, Hepatosplenomegaly, Edema, Hydrops fetalis ORPHA:101028
Al-Gazali-Bakalinova Syndrome
Inguinal hernia, Lymphedema OMIM:607131
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Abnormal lymphatic vessel morphology, Edema, Intestinal lymphangie... ORPHA:90362
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ascites, Atrioventricul... OMIM:115197
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart f... ORPHA:90308
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Abnormal intestine morphology, Ascites, Budd-Chiari syndrome, Edema, Malabsorption,... OMIM:226300
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Elevated hepatic transaminase, Jaundice ORPHA:858
Hemochromatosis, Type 1
Hepatomegaly, Telangiectasia, Ascites, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Ci... OMIM:235200
Yellow Nail Syndrome
Biliary tract neoplasm, Pulmonary arterial hypertension, Hypoplasia of lymphatic vessels, Lymphedema ORPHA:662
Wolman Disease
Hepatomegaly, Esophageal varix, Ascites, Splenomegaly, Steatorrhea, Hepatic failure ORPHA:75233
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Flexion contracture, Camptodactyly of finger, Hepatic failure, Predomin... ORPHA:261519
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Ascites OMIM:240150
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Oligohydramnios, Splenomegaly, Ascites, Polyhydramnios ORPHA:1046
Mucopolysaccharidosis Type 7
Ascites, Hepatitis, Inguinal hernia, Splenomegaly, Umbilical hernia, Hydrops fetalis, Lymphedema ORPHA:584
Campomelia, Cumming Type
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... ORPHA:1318
Neuraminidase Deficiency
Hepatomegaly, Ascites, Cardiomyopathy, Facial edema, Splenomegaly, Hydrops fetalis OMIM:256550
Malignant Peritoneal Mesothelioma
Pedal edema, Ileus, Ascites, Peritonitis ORPHA:168811
Eosinophilic Gastroenteritis
Dysphagia, Ascites, Edema, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract,... ORPHA:2070
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Neoplasm of the pancreas, Ab... ORPHA:83469
German Syndrome
Dysphagia, High palate, Arthrogryposis multiplex congenita, Camptodactyly of finger, Lymphedema ORPHA:2077
Milroy Disease
Lymphedema, Cellulitis, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Xfe Progeroid Syndrome
Hypertension, Ascites, Absence of subcutaneous fat, Enamel hypoplasia, Elevated hepatic transaminase OMIM:610965
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Edema, Ascites, Abnormality of the amniotic fluid OMIM:611719
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Lymphedema ORPHA:3137
Lymphatic Malformation 10
Lymphedema OMIM:619369
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Generalized edema OMIM:207731
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Decreased liver function, Oligohydramnios, Cholestasis, Camptodactyly, Pro... OMIM:608104
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclero... ORPHA:2137
Predominantly lower limb lymphedema, Lymphangiectasis, Edema, Atypical scarring of skin, Lymphedema ORPHA:182
Greenberg Dysplasia
Lymphedema ORPHA:1426
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis OMIM:619003
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Splenomegaly OMIM:224120
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Ascites, Lymphadenopathy, Hepatitis, Splenomegaly, Pedal edema, J... ORPHA:381
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Tenosynovial Giant Cell Tumor
Chondrocalcinosis, Joint swelling, Lymphedema ORPHA:66627
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Malabsorption, Steatorrhea, Aplasia/Hypoplasia of the thymus, Abnorma... ORPHA:2176
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Atrial flutter, Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Caroli Disease
Hepatomegaly, Cholangitis, Esophageal varix, Ascites, Cholangiocarcinoma, Hepatic fibrosis, Chole... ORPHA:53035
Lymphedema-Distichiasis Syndrome
Lymphedema, Cleft palate, Cellulitis, Arrhythmia, Predominantly lower limb lymphedema OMIM:153400
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Fetal akinesia sequence, Polyhydramnios OMIM:619602
Kaposiform Lymphangiomatosis
Pericardial effusion, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymp... ORPHA:464329
Achondrogenesis, Type Ii
Edema, Hydrops fetalis, Stillbirth, Polyhydramnios OMIM:200610
Congenital Enterovirus Infection
Fetal ascites, Myocarditis, Fetal distress, Pericardial effusion, Premature birth, Decreased feta... ORPHA:292
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Telangiectasia of extensor surfaces, Facial telangiectasia in butterf... OMIM:137940
Cirrhotic Cardiomyopathy
Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ascites, Ventricular arrhyt... ORPHA:57777
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis OMIM:602579
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Ascites, Edema, Hepatosplenomegaly OMIM:608776
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:615122
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Buschke-Ollendorff Syndrome
Hypertension, Connective tissue nevi, Atypical scarring of skin, Flexion contracture, Lymphedema ORPHA:1306
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Pericardial effusion, Joint contracture of the hand, Thyroid lymphangiectasia, I... OMIM:235510
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Ascites, Palpitations, Biliary tr... ORPHA:100085
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Lymphedema OMIM:149000
Mulibrey Nanism
Hepatomegaly, Ascites, Congestive heart failure, Hydrops fetalis OMIM:253250
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Ascites, Xerostomia, Telangiectasia ... ORPHA:779
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Monosomy 18P
Hypertension, Cleft palate, Lymphedema ORPHA:1598
Ring Chromosome 22 Syndrome
Edema, Pleural effusion, Protruding tongue, Lymphedema ORPHA:1446
Amyloidosis, Familial Visceral
Hepatomegaly, Hypertension, Edema, Splenomegaly, Cholestasis OMIM:105200
Hepatosplenomegaly, Nonimmune hydrops fetalis, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Telangiectasia, Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Epist... ORPHA:137667
Aggressive Systemic Mastocytosis
Ascites, Lymphadenopathy, Malabsorption, Decreased liver function, Gastrointestinal hemorrhage, H... ORPHA:98850
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly ORPHA:766
Cantu Syndrome
Pericardial effusion, Umbilical hernia, Lymphedema OMIM:239850
Ovarian Fibroma
Pleural effusion, Mesenteric cyst, Ascites, Peritonitis ORPHA:314473
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Ascites, Cirrhosis, Elevated circulating aspartate aminotransferase co... OMIM:617049
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Retinal neovascularization, Vitreous hemorrhage, Lymphedema ORPHA:891
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly OMIM:273680
Lymphedema, Chylopericardium, Shagreen patch, Ascites, Lymphadenopathy, Abnormality of the lympha... ORPHA:538
Gallbladder Neuroendocrine Tumor
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy... ORPHA:100086
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palmar telangiectasia, Palpebral edema, Predominantly lower limb lymph... OMIM:607823
Ascites, Macroglossia, Edema, Abnormality of subcutaneous fat tissue, Oligohydramnios, Abnormalit... ORPHA:79325
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Pleural effusion, Hypovolemia, Peripheral edema, Generalized edema, Cap... ORPHA:64739
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Hennekam Syndrome
Pyloric stenosis, Pulmonary lymphangiectasia, Pericardial effusion, Ascites, Lymphadenopathy, Lym... ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Neonatal death, Death in infancy, Nonimmune hydrops fetalis OMIM:618835
Congenital Sialidosis Type 2
Hepatomegaly, Telangiectasia, Ascites, Edema, Inguinal hernia, Hepatosplenomegaly, Abnormal EKG, ... ORPHA:93400
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Neonatal death, Death in infancy, Nonimmune hydrops fetalis OMIM:618839
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Ascites, Bradycardia, Decreased liver function, Elevated hepat... OMIM:617397
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Fabry Disease
Hypertension, Angina pectoris, Myocardial infarction, Transient ischemic attack, Congestive heart... OMIM:301500
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly OMIM:266200
Dengue Fever
Cerebral hemorrhage, Hepatomegaly, Ascites, Epistaxis, Gastrointestinal hemorrhage, Hypotension ORPHA:99828
Minicore Myopathy With External Ophthalmoplegia
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Parkes Weber Syndrome
Arteriovenous fistula, Abnormal lymphatic vessel morphology, Spinal arteriovenous malformation, V... ORPHA:90307
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Ascites, Transudative pleural effusion ORPHA:284227
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Omphalocele, Hepatic fibrosis, Ascites, Pancreatic fibrosis, Pol... OMIM:200995
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Lymphadenopathy, Splenomegaly, Small ves... ORPHA:36412
Mitochondrial Complex I Deficiency, Nuclear Type 30
Premature birth, Neonatal death OMIM:301021
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Ade... ORPHA:171
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema OMIM:152950
Clapo Syndrome
Lymphangioma, Lymphedema ORPHA:168984
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Biliary tract obstruction, Pulmonary arterial hypert... ORPHA:77259
Noonan Syndrome 13
High palate, Gastroesophageal reflux, Mitral regurgitation, Lymphedema OMIM:619087
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Elevated circulating aspartate aminotransfe... OMIM:257200
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Bradycardia, Cardiomyopathy, Pulmonary edema, Congestive heart failure, Shortened PR int... OMIM:261740
Familial Mediterranean Fever
Gastrointestinal infarctions, Pericarditis, Ascites, Peritonitis, Lymphadenopathy, Malabsorption,... ORPHA:342
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Polyhydramnios, Single umbilical artery, Pleural effusion, ... OMIM:616897
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Intracranial hemorrhage, Abnormal large intestine morphology, Angina pectoris, Na... ORPHA:109
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Hip contracture, Morph... ORPHA:464321
Senior-Boichis Syndrome
Hypertension, Malformation of the hepatic ductal plate, Esophageal varix, Ascites, Hepatic fibros... ORPHA:84081
Hepatomegaly, Ascites, Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Jaundice ORPHA:352
Hepatomegaly, Ascites, Neoplasm of the thymus, Neoplasm of the pancreas, Neoplasm of the small in... ORPHA:97261
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, C... ORPHA:186
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Poems Syndrome
Pericardial effusion, Ascites, Lymphadenopathy, Edema, Pulmonary arterial hypertension, Lipodystr... ORPHA:2905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the th... OMIM:619313
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormalit... ORPHA:2035
Perlman Syndrome
Ascites, Congenital diaphragmatic hernia, Edema, Volvulus, Distal ileal atresia, Polyhydramnios, ... OMIM:267000
Carney Triad
Hypertension, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Ascites, Lymphadenopath... ORPHA:139411
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hypertension, Pericarditis, Pericardial effusion, Ascites, Hepatic fibrosis, Edema,... OMIM:619487
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Edema, Panniculitis, Generalized lipodystrophy, Splenomegaly, Flex... OMIM:619183
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Ascites, Polyhydramnios, Splenomegaly, Hep... ORPHA:1655
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Cardiac Valvular Defect, Developmental
Tricuspid regurgitation, Edema, Mitral stenosis, Hydrops fetalis OMIM:212093
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatomegaly, Third degree atrioventricular block, Cleft palate, Villous ... OMIM:619573
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Congestive heart failure, Abnormality of the amniotic fluid, Arrhythmia, ... OMIM:609015
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Edema, Cardiomyopathy, Splenom... ORPHA:3386
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Ascites, Pulmonary hemorrhage, Hepatosplenomegaly, Elevated hepatic transaminase, P... ORPHA:79124
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrh... OMIM:276700
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Lymphadenopathy, Edema, Raynaud phenomenon, Abnormality of the gas... ORPHA:93552
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart... OMIM:230500
Hepatomegaly, Ascites, Neoplasm of the pancreas, Neoplasm of the small intestine, Cholelithiasis,... ORPHA:97278
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Overriding aorta, Hydrops fet... OMIM:617022
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Dec... ORPHA:75565
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Stillbirth, Splenomegaly, Hepatic failure OMIM:259720
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Thymic Carcinoma
Mediastinal lymphadenopathy, Neoplasm of the thymus, Edema, Abnormal vena cava morphology, Palpeb... ORPHA:99868
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
Hepatomegaly, Dysphagia, Nonimmune hydrops fetalis, Ascites, Neonatal death, Arthrogryposis multi... OMIM:608013
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Epistaxis, High palate, Predominantly lower limb lymphedema ORPHA:293939
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Hepatocellular Carcinoma
Hepatomegaly, Esophageal varix, Ascites, Budd-Chiari syndrome, Hemobilia, Anasarca, Hepatic necro... ORPHA:88673
Gracile Bone Dysplasia
Asplenia, Ankyloglossia, Hypoplastic spleen, Ascites OMIM:602361
Classic Galactosemia
Hepatomegaly, Ascites, Hepatic failure, Elevated hepatic transaminase, Jaundice ORPHA:79239
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Camptodactyly, Anteriorly placed anus, Anal stenosis, Lymphedema ORPHA:314679
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Protein-losing enterop... OMIM:618183
Necrotizing Enterocolitis
Shock, Ascites, Peritonitis, Edema, Bradycardia, Hypotension ORPHA:391673
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Ascites, Edema, Anasarca, Facial edema, Palpebral edema, Pulmonary embolism, Pedal ... ORPHA:567546
Phelan-Mcdermid Syndrome
High palate, Palpebral edema, Cellulitis, Gastroesophageal reflux, Lymphedema OMIM:606232
Thymic Tumor
Dysphagia, Pericarditis, Mediastinal lymphadenopathy, Neoplasm of the thymus, Edema, Cardiac arre... ORPHA:100100
Hepatomegaly, Ascites, Gallbladder dysfunction, Neoplasm of the pancreas, Neoplasm of the small i... ORPHA:97283
Ovarian Fibrothecoma
Pleural effusion, Ascites, Peritonitis ORPHA:314478
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Esophageal varix, Ascites, Hepatic fibrosis, Elevated hepatic t... ORPHA:275761
Achondrogenesis, Type Ia
Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:200600
Adams-Oliver Syndrome
Esophageal varix, Ascites, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Cirrhosi... ORPHA:974
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Noonan Syndrome
Hepatomegaly, Abnormality of the spleen, High palate, Abnormality of the lymphatic system, Arrhyt... ORPHA:648
Hepatomegaly, Abnormal gastrointestinal motility, Benign gastrointestinal tract tumors, Ascites, ... ORPHA:97282
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Lipodystrophy, Edema, Oligohydramnios, Hypotension OMIM:616000
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Decreased fetal movement, Polyhydramnios, Death in childhood OMIM:619334
Angioosteohypertrophic Syndrome
Multiple lipomas, Telangiectasia of the skin, Gastrointestinal hemorrhage, Congestive heart failu... ORPHA:2346
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Farber Disease
Hepatic fibrosis, Ascites, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepa... ORPHA:333
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Omphalocele, Hamartoma of tongue, Median cleft lip and palate, Ascites, Edema, Neon... OMIM:269860
Takenouchi-Kosaki Syndrome
Camptodactyly, Inguinal hernia, Pulmonic stenosis, Lymphedema OMIM:616737
Hepatomegaly, Hepatic fibrosis, Edema, Decreased liver function, Gastrointestinal hemorrhage, Por... ORPHA:79319
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Angina pectoris, Atrioventricula... ORPHA:324
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Abnormality of the liver, Acute hepatic failure, Elevated hepatic transami... ORPHA:1667
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Hepatic fibrosis, Ascites, Short uvula, Hydrops fetalis OMIM:614091
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Trisomy 13
Hydrops fetalis, Patent ductus arteriosus ORPHA:3378
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Dysphagia, Lymphedema ORPHA:2822
Gm1 Gangliosidosis
Premature birth, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Congestive heart failure, Hydr... ORPHA:354
Intrahepatic Cholestasis Of Pregnancy
Ascites, Abnormality of the pancreas, Cholecystitis, Elevated hepatic transaminase, Jaundice ORPHA:69665
Ileal Neuroendocrine Tumor
Gastrointestinal obstruction, Right ventricular failure, Tricuspid stenosis, Small intestine carc... ORPHA:100078
Jejunal Neuroendocrine Tumor
Gastrointestinal obstruction, Right ventricular failure, Tricuspid stenosis, Small intestine carc... ORPHA:100077
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Protein-losing enteropathy, Hematochezia, Dehydration ORPHA:103910
Hepatomegaly, Abnormal gastrointestinal motility, Ascites, Neoplasm of the pancreas, Intestinal o... ORPHA:97280
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
White Sponge Nevus 2
Edema OMIM:615785
Lymphedema-Distichiasis Syndrome
Cleft palate, Arrhythmia, Predominantly lower limb lymphedema ORPHA:33001
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, High palate, Functional abnormality of the gastrointestinal tract, P... ORPHA:1340
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Parotitis, Acute pancrea... ORPHA:99827
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Edema, Decreased liver function, Cholelithiasis ORPHA:79278
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Lymphedema, Mitral regurgitation, Polyhydramnios, Aortic valve stenosis, Chylothorax OMIM:613563
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... ORPHA:97214
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Abnormal intestine morphology, Edema OMIM:600351
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lymphedema ORPHA:79280
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Edema, Multiple gastric polyps, Duodenal polypos... ORPHA:329971
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Esophageal varix, Ascites, Bile duct proliferation, Anasarca, Intestinal malrotation... OMIM:613658
Trisomy 1Q
Patent ductus arteriosus, Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Cardiomyopathy, Hydrops fetalis, Splenomegaly OMIM:253220
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Lymphadenopathy, Insulinoma, Melena, Intestinal ca... ORPHA:100076
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Edema, Polyhydramnios, Hydrops fetalis OMIM:602522
Mosaic Trisomy 9
Asplenia, Polyhydramnios, Single umbilical artery, Oligohydramnios, Hydrops fetalis ORPHA:99776
Aarskog Syndrome, Autosomal Dominant
Hepatomegaly, Cleft palate, Rectoperineal fistula, Anal atresia, Cirrhosis, Flexion contracture, ... OMIM:100050
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Single umbilical artery, Spontaneous abortion, Hydrops fetalis ORPHA:1865
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the lymphatic system, Flexion contracture, Camptodactyly, Inguinal hernia, Lymphedema ORPHA:487796
Hereditary Elliptocytosis
Hydrops fetalis, Splenomegaly ORPHA:288
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Edema, Panniculitis, Splenomegaly ORPHA:33577
Melkersson-Rosenthal Syndrome
Macroglossia, Lymphadenopathy, Edema, Furrowed tongue, Periorbital edema ORPHA:2483
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Lymphedema OMIM:600268
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Edema, Panniculitis, Cellulitis, Pleural effusion, Chylothorax ORPHA:2526
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis ORPHA:77261
Greenberg Dysplasia
Nonimmune hydrops fetalis, Neonatal death, Stillbirth, Polyhydramnios, Hepatosplenomegaly, Pleura... OMIM:215140
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal placenta morphology, Cardiomyopathy, Hydrops fetalis ORPHA:79255
Schneckenbecken Dysplasia
Cleft palate, Polyhydramnios, Lymphedema ORPHA:3144
Lethal Congenital Contracture Syndrome 1
Neonatal death, Edema, Abnormality of the amniotic fluid OMIM:253310
Spondylodysplastic Ehlers-Danlos Syndrome
Cleft palate, Atrophic scars, Pulmonic stenosis, Flexion contracture, Multiple joint contractures... ORPHA:536471
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Hypertension, High palate, Inflammation of the large intestine, Prolonged QT... ORPHA:99413
Turner Syndrome
High, narrow palate, Hypertension, High palate, Inflammation of the large intestine, Prolonged QT... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Hypertension, High palate, Inflammation of the large intestine, Prolonged QT... ORPHA:99228
Monosomy X
High, narrow palate, Hypertension, High palate, Inflammation of the large intestine, Prolonged QT... ORPHA:99226
Kanzaki Disease
Lip telangiectasia, Telangiectasia of the oral mucosa, Lymphedema OMIM:609242
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology ORPHA:2330
Peripheral Primitive Neuroectodermal Tumor
Ascites, Neoplasm of the pancreas, Pancreatitis, Pelvic mass, Jaundice ORPHA:370348
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Esophageal varix, Neonatal death, Splenomegaly, Prolonged neonatal jaundice,... OMIM:619534
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pulmonary artery ... OMIM:265380
Mosaic Variegated Aneuploidy Syndrome
Cleft palate, Stomach cancer, Duodenal atresia, Ascites, Aortic regurgitation, Polyhydramnios, In... ORPHA:1052
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nonimmune hydrops fetalis, Pericardial effusion, Cardiomyopathy, Abnormality of the... OMIM:212065
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Lymphangioma, Abnormal subcutaneous fat tissue distri... ORPHA:744
Pericardial Effusion, Chronic
Constrictive pericarditis, Retinal arteriolar tortuosity, Pericardial effusion OMIM:260900
Reflex asystolic syncope, Arrhythmia, Hydrops fetalis ORPHA:79329
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Pulmonary embolism,... ORPHA:79282
Hepatomegaly, Pericardial effusion, Decreased fetal movement, Tricuspid regurgitation, Thickened ... ORPHA:79328
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Dysphagia, Fatal liver failure in infancy, Splenomegaly, Prolonged n... OMIM:257220
Niemann-Pick Disease Type C
Fetal ascites, Hepatomegaly, Dysphagia, Ascites, Splenomegaly, Abnormality of the liver, Hepatosp... ORPHA:646
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios OMIM:616546
Atresia Of Urethra
Pulmonary insufficiency, Oligohydramnios, Ascites ORPHA:105
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypersplenism, Chronic noninfectious lymphadenopathy... ORPHA:3261
Blomstrand Lethal Chondrodysplasia
Premature birth, Coarctation of aorta, Hydrops fetalis, Polyhydramnios ORPHA:50945
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Neoplasm of the small intestine, Intussusception, Gastrointesti... ORPHA:2929
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Cranioectodermal Dysplasia 2
Hepatomegaly, Hypertension, Polyhydramnios, Splenomegaly, Polysplenia, Hydrops fetalis OMIM:613610
Monosomy 22Q13.3
Gastroesophageal reflux, Palpebral edema, Umbilical hernia, Lymphedema ORPHA:48652
Pearson Syndrome
Hepatomegaly, Corneal stromal edema, Cardiac conduction abnormality, Cardiomyopathy, Hypoplastic ... ORPHA:699
Noonan Syndrome 1
Lymphedema, High, narrow palate, Hypertrophic cardiomyopathy, High palate, Cleft palate, Pulmonic... OMIM:163950
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis ORPHA:268249
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right ventricular h... ORPHA:555874
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Dysphagia, Splenomegaly, Prolonged neonatal jaundice OMIM:607625
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Chronic Graft Versus Host Disease
Abnormal esophagus physiology, Dysphagia, Ascites, Xerostomia, Fasciitis, Esophageal ulceration, ... ORPHA:99921
Costello Syndrome
Lymphangiectasis, Polyhydramnios OMIM:218040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Hydrops fetalis, Polyhydramnios OMIM:300868
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Hypertension, Fetal distress, Pericardial effusion, Ascites, Edem... ORPHA:51608
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis OMIM:263520
Meacham Syndrome
Death in infancy, Persistent left superior vena cava, Neonatal death, Coarctation of aorta, Still... OMIM:608978
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... ORPHA:199241
Gaucher Disease
Hepatomegaly, Pulmonary arterial hypertension, Hydrops fetalis, Splenomegaly ORPHA:355
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Hypertrophic cardiomyopathy, Multiple joint contractures, Intracranial hemorrhage, High palate, P... ORPHA:79318
Hepatoerythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly ORPHA:95159
Congenital Tracheal Stenosis
Fetal ascites, Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointe... ORPHA:141127
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Ascites ORPHA:1556
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, High palate, Bile duct proliferation, Polyhydramnios, Splenomegaly, ... OMIM:261515
Yunis-Varon Syndrome
Hypertension, Renovascular hypertension, Pulmonary arterial hypertension, Cardiomyopathy, Polyhyd... ORPHA:3472
Tetralogy Of Fallot
Intrauterine growth retardation, Tetralogy of Fallot ORPHA:3303
Congenital Erythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly ORPHA:79277
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Polyhydramnios OMIM:619362
Blackfan-Diamond Anemia
Nonimmune hydrops fetalis, Radial artery aplasia, Coarctation of aorta ORPHA:124
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Pericardial effusion, Granulomatous coronary arteritis, Vascular dilatation, Pleura... OMIM:108050
Yunis-Varon Syndrome
Premature birth, Pulmonary arterial hypertension, Cardiomyopathy, Polyhydramnios, Hydrops fetalis... OMIM:216340
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Dysphagia, High palate, Esophageal varix, Hip contracture, Cleft soft palate, Redu... OMIM:619503
Faundes-Banka Syndrome
Fetal ascites, Dysphagia, Cleft palate, Flexion contracture of toe, Gastroesophageal reflux OMIM:619376
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis OMIM:191100
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis OMIM:613254
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Aortic aneurysm ORPHA:805
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
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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