Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Flt4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Flt4 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Ascites, Chylous
Chylous ascites OMIM:208300
Lymphatic Malformation 9
Predominantly lower limb lymphedema, Tortuous lymphatic vessels OMIM:619319
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels OMIM:153300
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels OMIM:153200
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Chylous Ascites
Abnormal intestine morphology, Lymphedema, Pancreatitis, Ascites ORPHA:1160
Lipedema
Lipedema, Edema OMIM:614103
Cholestasis-Lymphedema Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Lymphedema, ... OMIM:214900
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... ORPHA:1414
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hype... OMIM:153100
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Lymphatic Malformation 3
Lymphedema, Cellulitis OMIM:613480
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphedema, Pleural eff... ORPHA:545
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Abnormality of the lymphatic system, Abnormality of the ga... ORPHA:1041
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... ORPHA:2198
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Poly... OMIM:620014
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... ORPHA:163596
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Herni... ORPHA:26790
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Ascites, Lymphaden... ORPHA:100025
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
German Syndrome
Lymphedema, Arthrogryposis multiplex congenita OMIM:231080
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Intussusception, Cirrhosis, Chylous ascites, Right ventricula... ORPHA:90363
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Esophageal varix... OMIM:232500
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Cellulitis, Lymph node hypoplasia, Absence of ... ORPHA:90186
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Choanal Atresia And Lymphedema
High palate, Lymphedema, Pericardial effusion OMIM:613611
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Camptodactyly, Lymphedema, Pericardial lymphangiectasia, Intestinal l... OMIM:616006
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly ORPHA:2204
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth, Cardiomyopathy ORPHA:1909
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema OMIM:618154
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... ORPHA:131
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Abn... ORPHA:69735
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Lymphedema, Intestina... ORPHA:2930
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Lymphatic Malformation 2
Lymphedema OMIM:611944
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lymphadenopathy... ORPHA:33276
Fetal Gaucher Disease
Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, Neonatal death... ORPHA:85212
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Cardiom... OMIM:608540
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Campomelia, Cumming Type
Polysplenia, Lymphedema, Pancreatic cysts, Polycystic liver disease OMIM:211890
Lymphatic Malformation 4
Lymphedema, Cellulitis OMIM:615907
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Edema, Intestinal lymphangiectasia OMIM:152800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Cellulitis, Gastroesophageal reflux, Noni... OMIM:616843
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins, Peri... OMIM:617300
Achondrogenesis, Type Ib
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation OMIM:600972
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Sialidosis Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Hydrops fetalis, Pedal edema, U... ORPHA:87876
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Single umbilical artery ORPHA:3405
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Congestive heart failure OMIM:269920
Lissencephaly 2
Lymphedema OMIM:257320
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Neonatal death, Arthrogryposis multiplex congenita OMIM:616342
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Br... OMIM:618815
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Ascites, Hepatomegaly, Jaundice ORPHA:890
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Flexion contracture, Hepatic failure, Cirrhosis, Hepatosp... ORPHA:367
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatomegaly, Inguinal hernia, Splenomegaly, Cleft palate, Pulmonary lymphangiectasi... OMIM:235255
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Hepatomegaly, Lymphedema, Telangiectasia, Hypertrophic cardiomyopathy ORPHA:79279
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphedema ORPHA:1116
Melorheostosis
Atypical scarring of skin, Lymphedema ORPHA:2485
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Gastroesophageal reflux, Oligohydramnios, Lymphedema, Hypertension, Pulmonary arteri... OMIM:613623
Alpha-Thalassemia
Hydrops fetalis, Hypersplenism, Splenomegaly ORPHA:846
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Ascites OMIM:174050
Lymphedema, Primary, With Myelodysplasia
Lymphedema, Cellulitis OMIM:614038
Transaldolase Deficiency
Telangiectasia, Hepatosplenomegaly, Hydrops fetalis, Edema ORPHA:101028
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Lymphedema, Lymphadenopathy ORPHA:3226
Familial Atrial Myxoma
Tricuspid regurgitation, Cholestasis, Heart murmur, Pedal edema, Ascites, Jaundice, Congestive he... ORPHA:615
Cinca Syndrome
Hepatosplenomegaly, Lymphedema, Lymphadenopathy OMIM:607115
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Edema, Intestinal lymphangiectasia, Generalized edema, Pleu... ORPHA:90362
Al-Gazali-Bakalinova Syndrome
Lymphedema, Inguinal hernia OMIM:607131
Wolman Disease
Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Esophageal varix, Ascites ORPHA:75233
Congenital Toxoplasmosis
Hepatomegaly, Elevated hepatic transaminase, Ascites, Jaundice, Lymphadenopathy ORPHA:858
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly ORPHA:1046
Klippel-Trénaunay Syndrome
Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Edema, Internal hemorrhage, Gastrointestinal h... ORPHA:90308
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Flexion contracture, Hepatic failure, Camptodactyly of finge... ORPHA:261519
Yellow Nail Syndrome
Pulmonary arterial hypertension, Lymphedema, Biliary tract neoplasm, Hypoplasia of lymphatic vessels ORPHA:662
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic tra... OMIM:235200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Pulmonary embolism, Intestinal obstruction, Ed... OMIM:226300
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgitation, Left ventr... OMIM:618052
Mucopolysaccharidosis Type 7
Inguinal hernia, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Umbilical hernia, Ascites ORPHA:584
Hypervitaminosis A, Susceptibility To
Ascites, Abnormality of the liver OMIM:240150
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Esophageal varix, Hypertension, Pulmonary... OMIM:215600
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Hydrops fetalis, Abnormality of the pancreas, Lymphedema, Abnormal in... ORPHA:1318
Neuraminidase Deficiency
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomyopathy OMIM:256550
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Pedal edema, Ascites ORPHA:168811
Eosinophilic Gastroenteritis
Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Hematochezia, Protein-losi... ORPHA:2070
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Lymphatic Malformation 10
Lymphedema OMIM:619369
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the pe... ORPHA:83469
German Syndrome
High palate, Camptodactyly of finger, Lymphedema, Arthrogryposis multiplex congenita, Dysphagia ORPHA:2077
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Protein-losin... OMIM:608104
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Cellulitis ORPHA:79452
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Gastroesophageal reflux ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Abnormality of the amniotic fluid, Edema, Hypertrophic cardiomyopathy OMIM:611719
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia OMIM:207731
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Spide... ORPHA:2137
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death OMIM:619003
Chromomycosis
Predominantly lower limb lymphedema, Lymphedema, Edema, Lymphangiectasis, Atypical scarring of skin ORPHA:182
Cirrhotic Cardiomyopathy
Pulmonary edema, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic dysfunctio... ORPHA:57777
Greenberg Dysplasia
Lymphedema ORPHA:1426
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Lymphedema, Omphalocele, Atrial flutter, Oligohydramnios OMIM:601927
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Pyloric stenosis, Hepatitis, Pedal edema, Lymphadenopathy, Jaundice, ... ORPHA:381
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrhage, ... ORPHA:464329
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema, Chondrocalcinosis ORPHA:66627
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Malabsorption, Steatorrhea, Camptodactyly of finger, Abnormality of t... ORPHA:2176
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Death in childhood, Edema OMIM:602579
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:932
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... ORPHA:53035
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Cleft palate, Cellulitis, Arrhythmia, Lymphedema OMIM:153400
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polyhydramnios, Fetal akinesia sequence, Neonatal death OMIM:619602
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema OMIM:200610
Congenital Enterovirus Infection
Hydrops fetalis, Premature birth, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, Pleur... ORPHA:292
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Pul... OMIM:137940
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion OMIM:608776
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Ascites, Lymphadenopathy OMIM:615122
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Lymphedema, Atypical scarring of skin, Hypertension ORPHA:1306
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93298
Mulibrey Nanism
Hydrops fetalis, Hepatomegaly, Ascites, Congestive heart failure OMIM:253250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Joint contracture of the hand, Thyroid lymphangiectasia, Pleural lymphangiectasia,... OMIM:235510
Klippel-Trenaunay-Weber Syndrome
Lymphedema, Lymphangioma OMIM:149000
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic non... ORPHA:100085
Ring Chromosome 22 Syndrome
Pleural effusion, Lymphedema, Protruding tongue, Edema ORPHA:1446
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Abnormality of the ... ORPHA:137667
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93299
Monosomy 18P
Hypertension, Lymphedema, Cleft palate ORPHA:1598
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Hepatomegaly, Mucosal telangiecta... ORPHA:779
Aggressive Systemic Mastocytosis
Decreased liver function, Malabsorption, Hepatosplenomegaly, Hypotension, Portal hypertension, Ga... ORPHA:98850
Galactosialidosis
Hepatosplenomegaly, Conjunctival telangiectasia, Nonimmune hydrops fetalis, Visceromegaly OMIM:256540
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Niemann-Pick Disease, Type A
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:257200
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cantu Syndrome
Lymphedema, Pericardial effusion, Umbilical hernia OMIM:239850
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Elevated circulating aspartate aminotransf... OMIM:617049
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis, Edema, Hypertension OMIM:105200
Cardiomyopathy, Familial Hypertrophic, 4
Left bundle branch block, Pulmonary edema, Hepatomegaly, Congestive heart failure, Hypertrophic c... OMIM:115197
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis, Palmar telangiec... OMIM:607823
Ovarian Fibroma
Mesenteric cyst, Ascites, Peritonitis, Pleural effusion ORPHA:314473
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Macular edema, Retinal neovascularization, Lymphedema ORPHA:891
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Shagreen patch, Lymphedema, G... ORPHA:538
Parkes Weber Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... ORPHA:90307
Fabry Disease
Angina pectoris, Arrhythmia, Myocardial infarction, Lymphedema, Hypertension, Transient ischemic ... OMIM:301500
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... ORPHA:100086
Alg8-Cdg
Macroglossia, Hydrops fetalis, Abnormality of the gastrointestinal tract, Camptodactyly, Elevated... ORPHA:79325
Hennekam Syndrome
Malabsorption, Lymphangioma, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Camptodactyly... ORPHA:2136
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Hepatosplenomegaly, Abnormal EKG, Protruding tongue, Edema, Umbili... ORPHA:93400
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... ORPHA:64739
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Death in infancy OMIM:618835
Dengue Fever
Hepatomegaly, Cerebral hemorrhage, Hypotension, Gastrointestinal hemorrhage, Ascites, Epistaxis ORPHA:99828
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Death in infancy OMIM:618839
Mitochondrial Complex I Deficiency, Nuclear Type 30
Premature birth, Neonatal death OMIM:301021
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites ORPHA:284227
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Ascites, Pericardial effusion, Small ve... ORPHA:36412
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema OMIM:152950
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Lipoma, Narrow palate, Intracranial hemorrhage, Hamartomatous polyposis, Lymphed... ORPHA:109
Clapo Syndrome
Lymphedema, Lymphangioma ORPHA:168984
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Congestive heart fa... OMIM:261740
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... ORPHA:171
Noonan Syndrome 13
High palate, Mitral regurgitation, Lymphedema, Gastroesophageal reflux OMIM:619087
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract obstruction, Pulmonary arterial hypertension... ORPHA:77259
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hip contracture, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic card... ORPHA:464321
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Single u... OMIM:616897
Familial Mediterranean Fever
Malabsorption, Pancreatitis, Splenomegaly, Acute hepatic failure, Peritonitis, Arrhythmia, Vascul... ORPHA:342
Senior-Boichis Syndrome
Cirrhosis, Hepatosplenomegaly, Reduced number of intrahepatic bile ducts, Malformation of the hep... ORPHA:84081
Galactosemia
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Ascites, Jaundice ORPHA:352
Primary Biliary Cholangitis
Hepatic failure, Orthostatic hypotension, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis,... ORPHA:186
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Grfoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic... ORPHA:97261
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops fetalis, Hypoplastic sple... OMIM:619313
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Edema, Lymphadenopath... OMIM:619183
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Abnormality of the lymphatic system, Lymphede... ORPHA:2035
Poems Syndrome
Pulmonary arterial hypertension, Lipodystrophy, Visceromegaly, Pleural effusion, Edema, Ascites, ... ORPHA:2905
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepatic fibr... OMIM:619487
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... OMIM:619573
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... OMIM:230500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatomegaly, Inguinal hernia, Splenomegaly, Hepatic failure, Pulmonary lymphangiect... ORPHA:1655
Perlman Syndrome
Congenital diaphragmatic hernia, Distal ileal atresia, Polyhydramnios, Visceromegaly, Pancreatic ... OMIM:267000
Cardiac Valvular Dysplasia 1
Mitral stenosis, Hydrops fetalis, Tricuspid regurgitation, Edema OMIM:212093
Carney Triad
Gastrointestinal stroma tumor, Tachycardia, Arrhythmia, Mediastinal lymphadenopathy, Gastrointest... ORPHA:139411
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Arrhythmia, Myocarditis, Edema, Periorbital ed... ORPHA:3386
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Hepatosplenomegaly, Absence of lym... ORPHA:79124
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Dilated cardiomyopathy, Abnormality o... OMIM:609015
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Gracile Bone Dysplasia
Ankyloglossia, Ascites, Hypoplastic spleen, Asplenia OMIM:602361
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios, Fetal akinesia sequ... OMIM:617022
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Gastrointes... ORPHA:731
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Abnormality of the gastrointestinal tract, Pleural effusion, Edema, Ascites, ... ORPHA:93552
Ppoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic... ORPHA:97278
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Elevated hepatic transaminase, Pleural effusion, Ascites, Brad... OMIM:617397
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth OMIM:618838
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Nonimmune hydrops fetalis, Neona... OMIM:608013
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Camptodactyly, Lymphedema, Anal stenosis, Anteriorly placed anus ORPHA:314679
Thymic Carcinoma
Palpebral edema, Mediastinal lymphadenopathy, Neoplasm of the thymus, Abnormal vena cava morpholo... ORPHA:99868
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death, Coarctation of aorta OMIM:601612
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Cellulitis, Splenomegaly, Lymphadenitis, Rectal abscess, Pleural effusion, Ascites,... OMIM:306400
Classic Galactosemia
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Ascites, Jaundice ORPHA:79239
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Predominantly lower limb lymphedema, Epistaxis, High palate ORPHA:293939
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Budd-Chiari syndrome, Hepatomegaly, Hemobilia, Hypotensio... ORPHA:88673
Necrotizing Enterocolitis
Peritonitis, Hypotension, Shock, Edema, Ascites, Bradycardia ORPHA:391673
Thymic Tumor
Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Edema, Dysphagia, Pericardi... ORPHA:100100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... ORPHA:567546
Phelan-Mcdermid Syndrome
High palate, Gastroesophageal reflux, Cellulitis, Palpebral edema, Lymphedema OMIM:606232
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Protein-losing enteropathy, Anasarca, Pleural effusion, Ascites, Pe... OMIM:618183
Somatostatinoma
Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext... ORPHA:97283
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Nonimmune hydrops fetalis, Premature birth, Congestive heart failure OMIM:166210
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Steatorrhea, Hepatic failure, Hypovol... ORPHA:275761
Ovarian Fibrothecoma
Peritonitis, Ascites, Pleural effusion ORPHA:314478
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Adams-Oliver Syndrome
Cirrhosis, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Esophageal varix, Portal... ORPHA:974
Wilson Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Chondrocalcinosis, Cirrhosis, Hepatocellular carcino... OMIM:277900
Noonan Syndrome
High palate, Hepatomegaly, Abnormality of the spleen, Abnormality of the lymphatic system, Arrhyt... ORPHA:648
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Inguinal hernia, Splenomegaly, Intestinal malrotation, Neonata... OMIM:269860
Analbuminemia
Hypotension, Lipodystrophy, Oligohydramnios, Edema OMIM:616000
Farber Disease
Joint swelling, Flexion contracture, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Elevat... ORPHA:333
Vipoma
Neoplasm of the pancreas, Abnormal abdomen morphology, Malabsorption, Neoplasm of the liver, Hepa... ORPHA:97282
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Cellulitis, Pulmonary embolism, Multiple lipomas, Lymphedema, Gastroi... ORPHA:2346
Arthrogryposis Multiplex Congenita 6
Death in childhood, Neonatal death, Polyhydramnios, Death in infancy, Decreased fetal movement OMIM:619334
Mpi-Cdg
Decreased liver function, Hepatomegaly, Protein-losing enteropathy, Hepatic fibrosis, Portal hype... ORPHA:79319
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Hepatomegaly, Splenomegaly OMIM:266200
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Tyrosinemia, Type I
Melena, Paralytic ileus, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic failure... OMIM:276700
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Acute hepatic failure, Dehydration, Elevated hep... ORPHA:1667
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Lymphedema, Inguinal hernia, Camptodactyly OMIM:616737
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Malabsorption, Mucosal telangie... ORPHA:324
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Increased nuchal translucency ORPHA:261344
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Hydrops fetalis, Hepatic fibrosis, Ascites OMIM:614091
Autosomal Recessive Spastic Paraplegia Type 11
Dysphagia, Orthostatic hypotension, Lymphedema ORPHA:2822
Trisomy 13
Hydrops fetalis, Patent ductus arteriosus ORPHA:3378
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Cholecystitis, Elevated hepatic transaminase, Ascites, Jaundice ORPHA:69665
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Premature birth, Cardiomyopathy, Congestive he... ORPHA:354
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Protein-losing enteropathy, Edema, Hematochezia ORPHA:103910
Cardiofaciocutaneous Syndrome
High palate, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormality of the gastrointestinal ... ORPHA:1340
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... ORPHA:100078
Jejunal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... ORPHA:100077
White Sponge Nevus 2
Edema OMIM:615785
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Arrhythmia, Cleft palate ORPHA:33001
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Sea-Blue Histiocytosis
Mediastinal lymphadenopathy, Hepatomegaly, Edema, Splenomegaly ORPHA:158029
Glucagonoma
Neoplasm of the pancreas, Abnormal abdomen morphology, Hepatomegaly, Extrahepatic cholestasis, St... ORPHA:97280
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Hepatomegaly, Splenomegaly OMIM:224120
Achondrogenesis, Type Ia
Hydrops fetalis, Absence of stomach bubble on fetal sonography, Polyhydramnios, Stillbirth, Incre... OMIM:200600
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Myocardit... ORPHA:99827
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Mitral regurgitation, Polyhydramnios, Lymphedema OMIM:613563
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Edema ORPHA:79278
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Heart murmur, Pedal edema, Right bund... ORPHA:97214
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Elevated hepatic transaminase, ... OMIM:610965
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Shock, Edema OMIM:600351
Ogden Syndrome
High palate, Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Pul... OMIM:300855
Schneckenbecken Dysplasia
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth OMIM:269250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Lymphedema, Telangiectasia of the oral mucosa ORPHA:79280
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Miscarriage, Single umbilical artery, Hydrops fetalis ORPHA:1865
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:253220
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flexion contracture, Inguinal hernia, Abnormality of the lymphatic system, Camptodactyly, Lymphedema ORPHA:487796
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Oligohydramnios, Single umbilical artery, Asplenia ORPHA:99776
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... ORPHA:100076
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Decreased liver function, Gastroesophageal reflux, Inguinal hernia, Intestinal malro... OMIM:613658
Aarskog Syndrome, Autosomal Dominant
Anal atresia, Hepatomegaly, Cleft palate, Flexion contracture, Cirrhosis, Rectoperineal fistula, ... OMIM:100050
Nodular Non-Suppurative Panniculitis
Panniculitis, Hepatomegaly, Edema, Splenomegaly ORPHA:33577
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth OMIM:602522
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Greenberg Dysplasia
Echogenic fetal bowel, Hepatosplenomegaly, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal d... OMIM:215140
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Ascites, Stillbirth OMIM:259720
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Hypertrophic cardiomyopathy OMIM:600268
Hereditary Elliptocytosis
Hydrops fetalis, Splenomegaly ORPHA:288
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Periorbital edema, Edema, Lymphadenopathy ORPHA:2483
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Micronodular cirrhosis, Flexion contracture, Splenomegaly, Hepatic failure, Limb jo... OMIM:301072
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Cellulitis, Lymphedema, Pleural effusion, Edema, Panniculitis ORPHA:2526
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Neonatal death... OMIM:265380
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth OMIM:228520
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Aortic valve stenosis, Flexion contracture, Inguinal hernia, Pulmoni... ORPHA:536471
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... ORPHA:99413
Turner Syndrome
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... ORPHA:881
Mosaic Monosomy X
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... ORPHA:99228
Monosomy X
High palate, Celiac disease, Cholestatic liver disease, High, narrow palate, Cirrhosis, Hepatic s... ORPHA:99226
Lethal Congenital Contracture Syndrome 1
Abnormality of the amniotic fluid, Neonatal death, Edema OMIM:253310
Gaucher Disease Type 3
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pulmonary arterial hypertension, Pericardial effusion ORPHA:77261
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology ORPHA:2330
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hepatosplenomegaly, Hydrops fetalis, Cardiomyopathy ORPHA:79255
Kanzaki Disease
Lip telangiectasia, Lymphedema, Telangiectasia of the oral mucosa OMIM:609242
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Pelvic mass, Ascites, Jaundice ORPHA:370348
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Nonimmune hydrops fetalis, Pericardial effusion, Death in infancy, Edema, Abn... OMIM:212065
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag... OMIM:619534
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema, Cleft palate ORPHA:3144
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Cleft palate, Stomach cancer, Polyhydramnios, Aortic regurgitation, Intestinal ... ORPHA:1052
Mgat2-Cdg
Hydrops fetalis, Arrhythmia, Reflex asystolic syncope ORPHA:79329
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis OMIM:260900
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hea... OMIM:619991
Proteus Syndrome
Lipoma, Lymphangioma, Splenomegaly, Sudden cardiac death, Pulmonary embolism, Neoplasm of the thy... ORPHA:744
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dilated cardiomyopathy, Pu... ORPHA:79282
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hydrops fetalis, Bilateral fetal pyelectasis, Polyhydramnios, Patent ductus arteriosus, Death in ... OMIM:300868
Alg9-Cdg
Hepatomegaly, Tricuspid regurgitation, Thickened nuchal skin fold, Hydrops fetalis, Oligohydramni... ORPHA:79328
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis OMIM:616546
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Hydrops fetalis, Vasculitis, L... ORPHA:3261
Monosomy 22Q13.3
Palpebral edema, Lymphedema, Gastroesophageal reflux, Umbilical hernia ORPHA:48652
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Dysphagia, Feta... ORPHA:646
Atresia Of Urethra
Pulmonary insufficiency, Oligohydramnios, Ascites ORPHA:105
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Premature birth, Coarctation of aorta ORPHA:50945
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Pearson Syndrome
Hepatomegaly, Splenomegaly, Corneal stromal edema, Dehydration, Hydrops fetalis, Hypoplastic sple... ORPHA:699
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Polyhydramnios, Hypertension, Polysplenia OMIM:613610
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Coarctation of aorta ORPHA:268249
Costello Syndrome
Lymphangiectasis, Polyhydramnios OMIM:218040
Noonan Syndrome 1
High palate, Chylothorax, Cleft palate, High, narrow palate, Pulmonic stenosis, Lymphedema, Hyper... OMIM:163950
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Death in childhood, Access... OMIM:608978
Niemann-Pick Disease, Type C1
Hepatomegaly, Splenomegaly, Dysphagia, Fatal liver failure in infancy, Prolonged neonatal jaundic... OMIM:257220
Pearson Marrow-Pancreas Syndrome
Dehydration, Death in childhood, Hydrops fetalis OMIM:557000
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Stroke, Medial calcification of medium-sized arteries, Arterial c... ORPHA:51608
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Flexion contracture, Xerostomia, Abnormal esophagus morphology, Esophage... ORPHA:99921
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Decreased fetal movement OMIM:265000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Tricuspid regurgitation OMIM:263520
Niemann-Pick Disease, Type C2
Hepatomegaly, Splenomegaly, Polyhydramnios, Dysphagia, Prolonged neonatal jaundice, Fetal ascites... OMIM:607625
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Gaucher Disease
Pulmonary arterial hypertension, Hydrops fetalis, Hepatomegaly, Splenomegaly ORPHA:355
Pmm2-Cdg
Angina pectoris, Multiple joint contractures, High palate, Intracranial hemorrhage, Lipodystrophy... ORPHA:79318
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Splenomegaly ORPHA:95159
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Ascites ORPHA:1556
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Yunis-Varon Syndrome
Hydrops fetalis, Renovascular hypertension, Polyhydramnios, Pulmonary arterial hypertension, Hype... ORPHA:3472
Tetralogy Of Fallot
Intrauterine growth retardation, Tetralogy of Fallot ORPHA:3303
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Splenomegaly ORPHA:79277
Blackfan-Diamond Anemia
Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta ORPHA:124
Yunis-Varon Syndrome
Hydrops fetalis, Premature birth, Heart murmur, Polyhydramnios, Pulmonary arterial hypertension, ... 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
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Aortic aneurysm ORPHA:805
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Hemangioma, Capillary Infantile
OMIM:602089

Histopathology

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

There is no histopathology data for Flt4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Flt4.

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

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

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