Gene Summary

Name:
angiopoietin-like 4
Synonyms:
NG27,  BK89,  FIAF,  HFARP

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
absent optic nerve Angptl4tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased circulating triglyceride level Angptl4tm1b(EUCOMM)Hmgu HOM Early adult 8.31×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Human diseases caused by Angptl4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Angptl4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... OMIM:120200
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Celiac disease, Increased stool alpha1-antitrypsin concentration, Hyp... ORPHA:90363
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Malabsorption, Spleno... ORPHA:100025
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramni... OMIM:265300
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... ORPHA:2198
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Pseudomyxoma Peritonei
Lymphadenopathy, Intestinal obstruction, Inflammation of the large intestine, Ascites ORPHA:26790
Wolman Disease
Hepatomegaly, Esophageal varix, Ascites, Splenomegaly, Steatorrhea ORPHA:75233
Ascites, Chylous
Chylous ascites OMIM:208300
Eosinophilic Gastroenteritis
Dysphagia, Ascites, Edema, Malabsorption, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Chylous Ascites
Abnormal intestine morphology, Ascites, Lymphedema ORPHA:1160
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Cardiomyopathy, Macular edema, Raynaud phenomenon, Abnormal retinal... ORPHA:247691
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Elev... OMIM:607765
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... ORPHA:70482
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Splenoportal Vascular Anomalies
Hyperammonemia, Ascites, Splenomegaly OMIM:271500
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormality of the lymphatic system, Po... ORPHA:1041
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Splenomegaly, Conjugated hyperbilirubinemia, Hydrops fetalis OMIM:269920
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Hypomagne... OMIM:618183
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Lymphadenopathy, Edema, Splenomegaly, Increased circulating ferritin concentration,... OMIM:603552
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Ascites ORPHA:890
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Splenomegaly, Gastroesophageal reflux, Pleural effusion,... ORPHA:2414
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites OMIM:174050
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Ascites, Lymphadenopathy, Abnormal circulating lipid concentratio... ORPHA:381
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly ORPHA:1046
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, ... OMIM:613101
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly, Pedal edema, Hydrops fetalis ORPHA:87876
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Congenital Toxoplasmosis
Lymphadenopathy, Hepatomegaly, Ascites ORPHA:858
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Functional ... ORPHA:90362
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Polyhydramnios, Hydrops fetalis ORPHA:2123
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Glycogen Storage Disease Iv
Esophageal varix, Ascites, Edema, Polyhydramnios, Hepatosplenomegaly, Hydrops fetalis OMIM:232500
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Abnormal intestine morphology, Ascites, Edema, Malabsorption, Inte... OMIM:226300
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Splenomegaly OMIM:619463
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Ileus ORPHA:83469
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Oligohydramnios, Hypoalbuminemia, Protein-losing enteropathy OMIM:608104
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Ascites OMIM:240150
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia ORPHA:264200
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Malabsorption, Splenomegal... ORPHA:131
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:615122
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Ascites, Hepatocellular carcinoma, Splenomegaly, Increased ci... OMIM:235200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hypoproteinemia, Hepatomegaly, Cleft palate, High palate, Ascites, Po... OMIM:235255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Ascites, Hypoalbuminemia OMIM:617156
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hepatoportal Sclerosis
Esophageal varix, Ascites, Hepatocellular carcinoma, Hyperbilirubinemia, Gastric varix, Splenomeg... ORPHA:64743
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Ascites, Abnormality of the lymphatic system, Palpebral edema, Pleural effusion, Hydrops fetalis,... ORPHA:69735
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypocholesterolemia, Steatorrhea ORPHA:71
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Retinopathy, Pulmonary embolism ORPHA:743
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Ascites, Edema, Hepatosplenomegaly OMIM:608776
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites OMIM:301045
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Hydrops fetalis, Ascites OMIM:619433
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Combined Oxidative Phosphorylation Deficiency 5
Edema, Ascites OMIM:611719
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Esophageal varix, Ascites, Polyhydramnios, Hepatosplenom... ORPHA:367
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Genital edema, Facial edema, Intestinal l... OMIM:616843
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Atriovent... OMIM:614954
Neuraminidase Deficiency
Hepatomegaly, Ascites, Facial edema, Splenomegaly, Hydrops fetalis OMIM:256550
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Ascites, Edema, Anasarca, Facial edema, Palpebral edema, Hypoalbuminemia, Pedal e... ORPHA:567546
Aggressive Systemic Mastocytosis
Ascites, Lymphadenopathy, Malabsorption, Hepatosplenomegaly, Gastrointestinal hemorrhage, Hypersp... ORPHA:98850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Malignant Peritoneal Mesothelioma
Pedal edema, Ileus, Ascites ORPHA:168811
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Lymphadenopathy, Splenomegaly, Pleural e... ORPHA:36412
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Hyperbilirubinemia, Stillbirth, Splenomegaly, Hypocalcemia OMIM:259720
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hypoproteinemia, Hepatomegaly, High palate, Ascites, Polyhydramnios, ... ORPHA:1655
Angioosteohypotrophic Syndrome
Venous malformation, Telangiectasia of the skin, Prominent superficial veins ORPHA:75508
Mulibrey Nanism
Hepatomegaly, Ascites, Microglossia, Hydrops fetalis OMIM:253250
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Gracile Bone Dysplasia
Ascites, Asplenia, Ankyloglossia, Hypocalcemia, Hypoplastic spleen OMIM:602361
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Neonatal death, Polyhydramnios OMIM:618810
Alg8-Cdg
Hyponatremia, Ascites, Macroglossia, Edema, Oligohydramnios, Abnormality of the gastrointestinal ... ORPHA:79325
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Gastrointestinal hemorrhage, Venous insufficiency, Congestive heart fai... ORPHA:90308
Autoimmune Hepatitis
Inflammation of the large intestine, Ascites, Hepatocellular carcinoma, Increased total bilirubin... ORPHA:2137
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Hyperuricemia, Intestinal obstruction,... ORPHA:543
Grfoma
Hypercalcemia, Hepatomegaly, Ascites, Neoplasm of the thymus, Increased circulating cortisol leve... ORPHA:97261
Galactosemia
Hepatomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Ascites ORPHA:352
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Villous atrophy, Hypokalemia, Ascites, Anasarca, Increased fecal calp... OMIM:619573
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Esophageal varix, Ascites, Hypercholesterolemia, Xanthelasma, Hepatos... ORPHA:275761
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:745
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apo... OMIM:207750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Ascites, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia OMIM:251880
Tangier Disease
Orange discolored tonsils, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphad... ORPHA:31150
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Niemann-Pick Disease, Type A
Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly OMIM:257200
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Xfe Progeroid Syndrome
Ascites OMIM:610965
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Ascites, Hyperammonemia, Elevated alpha-fetoprotein, Conjugated hyperb... OMIM:617049
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Lymphadenopathy, Edema, Abnormality of the gastrointestinal tract,... ORPHA:93552
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hepatomegaly, Ascites ORPHA:99828
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency, Pulmonary embolism, Ar... ORPHA:624
Reynolds Syndrome
Hepatomegaly, Dysphagia, Ascites, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophagea... ORPHA:779
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Vipoma
Hypercalcemia, Hepatomegaly, Abnormal gastrointestinal motility, Benign gastrointestinal tract tu... ORPHA:97282
Proteus Syndrome
Venous malformation OMIM:176920
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Dysphagia, Nonimmune hydrops fetalis, Ascites, Neonatal death, Polyhydramnios, Sple... OMIM:608013
Hennekam Syndrome
Pulmonary lymphangiectasia, Pyloric stenosis, Pericardial effusion, Ascites, Lymphadenopathy, Lym... ORPHA:2136
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... ORPHA:447788
Ppoma
Hypercalcemia, Hepatomegaly, Ascites, Increased circulating cortisol level, Neoplasm of the small... ORPHA:97278
Griscelli Syndrome Type 2
Lymphadenopathy, Hepatomegaly, Hyperlipidemia, Splenomegaly ORPHA:79477
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Ascites, Polyhydramnios, Pleural effusion, Hydrops fetalis OMIM:616897
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy ORPHA:401777
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Microphthalmia ORPHA:85284
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy ORPHA:496790
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Dilatation of celiac artery, Ischemic stroke, Spinal arteriovenous malformat... OMIM:610655
Von Willebrand Disease
Venous insufficiency ORPHA:903
Somatostatinoma
Hypercalcemia, Hepatomegaly, Ascites, Increased circulating cortisol level, Neoplasm of the small... ORPHA:97283
Tyrosinemia, Type I
Hepatomegaly, Ascites, Hepatocellular carcinoma, Hypertyrosinemia, Splenomegaly, Gastrointestinal... OMIM:276700
Carney Triad
Mediastinal lymphadenopathy, Gastrointestinal stroma tumor, Ascites, Lymphadenopathy, Gastrointes... ORPHA:139411
Congenital Sialidosis Type 2
Hepatomegaly, Ascites, Edema, Hepatosplenomegaly, Protruding tongue ORPHA:93400
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Poems Syndrome
Pericardial effusion, Ascites, Lymphadenopathy, Edema, Pleural effusion, Visceromegaly ORPHA:2905
Gjc2-Related Late-Onset Primary Lymphedema
Varicose veins, Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Hypercholesterolemia, Elevated circulating aspartate am... OMIM:619662
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenop... OMIM:267700
Familial Atrial Myxoma
Pedal edema, Ascites ORPHA:615
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hypoplastic colon, Ascites, Polysplenia, Hypoplasia of the small intestine OMIM:200995
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes, Colon cancer ORPHA:97290
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Scimitar Syndrome
Left-to-right shunt, Interrupted inferior vena cava with azygous continuation, Truncus arteriosus... ORPHA:185
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes, Colon cancer ORPHA:319487
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Splenomegaly, Hypersplenism, Pedal edema ORPHA:77259
Caroli Disease
Hepatomegaly, Esophageal varix, Ascites, Cholangiocarcinoma, Splenomegaly, Conjugated hyperbiliru... ORPHA:53035
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Mucopolysaccharidosis Type 7
Lymphedema, Ascites, Hydrops fetalis, Splenomegaly ORPHA:584
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Glucagonoma
Hypercalcemia, Hepatomegaly, Abnormal gastrointestinal motility, Ascites, Increased circulating c... ORPHA:97280
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericardial effusion, Ascites, Edema, Hepatosplenomegaly, Hypoalbuminemia OMIM:619487
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Optic atrophy ORPHA:370959
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Neoplasm of the liver, Ascites ORPHA:100085
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Ascites, Hepatosplenomegaly, Absence of lymph node germinal center, Recurrent gastr... ORPHA:79124
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Pulmonary edema, Pericardial effusion, Ascites OMIM:115197
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Ascites ORPHA:100086
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Parkes Weber Syndrome
Arteriovenous fistula, Abnormal lymphatic vessel morphology, Arteriovenous malformation, Spinal a... ORPHA:90307
Familial Mediterranean Fever
Gastrointestinal infarctions, Ascites, Lymphadenopathy, Malabsorption, Splenomegaly, Intestinal o... ORPHA:342
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Ascites, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Dehydra... ORPHA:1667
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Kaposi Sarcoma
Venous insufficiency, Abnormal retinal morphology ORPHA:33276
Cirrhotic Cardiomyopathy
Hepatomegaly, Ascites, Increased circulating galectin-3 level, Abnormal B-type natriuretic peptid... ORPHA:57777
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Abnormal venous morphology, Arterial rupture, Aortic aneurysm, Arterial dissec... ORPHA:1900
Primary Biliary Cholangitis
Celiac disease, Ascites, Abnormal circulating lipid concentration, Hepatocellular carcinoma, Conj... ORPHA:186
Lymphangioleiomyomatosis
Chylopericardium, Ascites, Lymphadenopathy, Abnormality of the lymphatic system, Chylothorax, Pul... ORPHA:538
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ascites, Hamartoma of tongue, Median cleft lip and palate, Edema, Neonatal death, P... OMIM:269860
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... ORPHA:14
Meige Disease
Lymphedema, Edema of the dorsum of hands, Lymph node hypoplasia, Facial edema, Pleural effusion, ... ORPHA:90186
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites OMIM:617397
Farber Disease
Ascites, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Hydrops fetalis ORPHA:333
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Ascites, Short uvula, Hydrops fetalis OMIM:614091
Perlman Syndrome
Ascites, Edema, Volvulus, Distal ileal atresia, Polyhydramnios, Visceromegaly OMIM:267000
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... ORPHA:1677
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Necrotizing Enterocolitis
Hyponatremia, Edema, Ascites ORPHA:391673
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Pleural effusion, Peripheral edema, Generalized edema ORPHA:64739
Tempi Syndrome
Ascites, Transudative pleural effusion ORPHA:284227
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Ascites, Celiac disease, Hepatocel... ORPHA:171
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Varicose veins, Tetralogy of Fallot, Arrhythmia, Conjunctivitis OMIM:153400
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix, Ascites ORPHA:974
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Elevated hepatic transaminase, Abnormal enzym... ORPHA:79324
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Elevated circulating alkaline phosphatase c... ORPHA:247598
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Esophageal varix, Ascites, Cholangiocarcinoma, Hepatoblastoma, Splenomegaly, Hypers... ORPHA:731
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites, Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Hyperbi... ORPHA:464321
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Jaundice, Increased circulating chylomicr... OMIM:238600
Phace Association
Optic atrophy, Microphthalmia, Horner syndrome, Optic nerve hypoplasia, Increased retinal vascula... OMIM:606519
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia, Ascites ORPHA:69665
Truncus Arteriosus
Interrupted aortic arch, Truncus arteriosus, Anomalous origin of the left common carotid artery f... ORPHA:3384
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Aniridia 1
Hypoplasia of the fovea, Hypoplasia of the iris, Aniridia, Optic nerve hypoplasia, Macular agenes... OMIM:106210
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Esophageal varix, Hypokalemia, Ascites, Anasarca, Hype... ORPHA:88673
Senior-Boichis Syndrome
Hepatosplenomegaly, Esophageal varix, Increased total bilirubin, Ascites ORPHA:84081
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Elevated alpha-fetoprotein, Elevated carcinoma antigen 125 level, Ascites ORPHA:370348
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulating crea... ORPHA:85450
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Hypotension OMIM:263400
Aorta Coarctation
Hypertension, Coarctation of the descending aortic arch, Persistent left superior vena cava, Pulm... ORPHA:1457
Livedoid Vasculopathy
Hypertension, Abnormal capillary morphology, Telangiectasia of the skin, Varicose veins, Venous i... ORPHA:542643
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia ORPHA:3157
Mosaic Variegated Aneuploidy Syndrome
Cleft palate, Duodenal atresia, Ascites, Stomach cancer, Polyhydramnios, Increased nuchal translu... ORPHA:1052
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Melena, Pulmonary arterioven... OMIM:187300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia OMIM:301056
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Remnants of the hy... OMIM:614643
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Pulmonary edema, Ascites OMIM:261740
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Abnormal vena cava morphology, Rod-cone dystrophy, Heart murmur ORPHA:166035
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma OMIM:300749
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Facial palsy ORPHA:261349
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, High palate, Unconjugated hyperbilirubinemia, Esophageal varix, Ascites, Anasarc... OMIM:613658
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Varicose veins OMIM:125310
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Cardiac Diverticulum
Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Patent ductus arte... ORPHA:1686
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Renal Nutcracker Syndrome
Syncope, Vulval varicose vein, Orthostatic hypotension, Tachycardia, Varicose veins, Dilatation o... ORPHA:71273
Varicose Veins
Varicose veins OMIM:192200
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Dysphagia, Abnormal circulating cholesterol concentration, Splenomegaly OMIM:607625
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... ORPHA:980
Lymphedema-Distichiasis Syndrome
Varicose veins, Arrhythmia, Patent ductus arteriosus, Conjunctivitis ORPHA:33001
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Esophageal varix, Ascites, Elevated circulating creatinine concentration, Edema, Ne... OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Ret... OMIM:236670
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins, Rod-cone dystrophy ORPHA:100991
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Enlarged Parietal Foramina
Venous malformation ORPHA:60015
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:54251
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal venous morphology ORPHA:276280
Familial Cerebral Cavernous Malformation
Retinal cavernous angioma, Choroidal hemangioma, Venous malformation, Cerebral hemorrhage ORPHA:221061
Proteus-Like Syndrome
Retinal detachment, Venous insufficiency ORPHA:2969
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Elevated circulating creatine kinas... ORPHA:99827
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenopathy, Lymphadenitis, Abnormality of... ORPHA:911
Liposarcoma
Varicose veins ORPHA:69078
Congenital Enterovirus Infection
Fetal ascites, Pericardial effusion, Polyhydramnios, Hyperammonemia, Hypoalbuminemia, Pleural eff... ORPHA:292
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Mitral regurgitation, Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosi... OMIM:612541
Niemann-Pick Disease Type C
Fetal ascites, Hepatomegaly, Dysphagia, Ascites, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis ORPHA:646
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Double outlet right ventricle, Rod-cone dystrophy, Abnormal i... ORPHA:244
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity OMIM:243605
Meacham Syndrome
Persistent left superior vena cava, Neonatal death, Coarctation of aorta, Stillbirth, Patent duct... OMIM:608978
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Optic disc pallor, Bilateral microphthalmos, Attenuation of retinal blood... ORPHA:468631
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, Abnormality of the optic disc, Facial p... ORPHA:508498
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Gastrointestinal hemorrhage, Venous insufficiency, Congestive heart f... ORPHA:2346
Foix-Alajouanine Syndrome
Arteriovenous fistula, Venous malformation ORPHA:79093
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
Chronic Graft Versus Host Disease
Abnormal esophagus physiology, Dysphagia, Ascites, Xerostomia, Esophageal ulceration, Esophageal ... ORPHA:99921
Menkes Disease
Intracranial hemorrhage, Gastrointestinal hemorrhage, Vascular dilatation, Venous insufficiency, ... ORPHA:565
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... ORPHA:424016
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Truncus arteriosus, Systolic heart murmur, Persistent left superior vena... OMIM:617478
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Dysphagia, Splenomegaly OMIM:257220
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Abnormal vena cava morphology ORPHA:97289
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation OMIM:618343
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Left superior vena cava draining to coronary sinus, Pulmonary arterial hyp... OMIM:602782
Hydranencephaly
Optic nerve hypoplasia, Chorioretinal atrophy ORPHA:2177
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Septo-optic dysplasia OMIM:301043
Lymphatic Malformation 7
Varicose veins OMIM:617300
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Double outlet right ventricle, Pulmonary arterial hypertens... ORPHA:163956
Congenital Tracheal Stenosis
Fetal ascites, Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointe... ORPHA:141127
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Optic disc coloboma ORPHA:536471
Tropical Endomyocardial Fibrosis
Hepatomegaly, Ascites, Splenomegaly, Hypoalbuminemia, Pedal edema, Peripheral edema ORPHA:75565
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormality of the optic nerve, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormality of the optic nerve, Optic nerve hypoplasia ORPHA:352665
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation ORPHA:83454
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia, Retinal vascular malformation ORPHA:42775
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Tetralogy of Fallot with pulmonary ... OMIM:108800
Eisenmenger Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Ascites, Abnormal B-type nat... ORPHA:97214
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, High palate, Polyhydramnios, Splenomegaly, Increased circulating ver... OMIM:261515
H Syndrome
Facial telangiectasia, Abnormal cardiovascular system physiology, Varicose veins ORPHA:168569
Classical-Like Ehlers-Danlos Syndrome Type 2
Keratoconjunctivitis sicca, Carotid artery stenosis, Aortic root aneurysm, Prominent veins on tru... ORPHA:536532
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Cutis Marmorata Telangiectatica Congenita
Ascites ORPHA:1556
Proboscis Lateralis
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma ORPHA:141099
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation OMIM:612918
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins OMIM:314300
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Generalized lymphade... ORPHA:50918
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy OMIM:619321
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Harrod Syndrome
Varicose veins OMIM:601095
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Atresia Of Urethra
Oligohydramnios, Ascites ORPHA:105
Loeys-Dietz Syndrome 3
Aortic dissection, Abdominal aortic aneurysm, Atrial fibrillation, Mitral regurgitation, Tortuous... OMIM:613795
22Q11.2 Deletion Syndrome
Optic atrophy, Retinal arteriolar tortuosity, Abnormal aortic arch morphology, Truncus arteriosus... ORPHA:567
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... ORPHA:358
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abnormality of the lymph nodes ORPHA:677
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ascites, Edema, Polyhydramnios, Hydrops fetalis, Hypophosphatemic rickets ORPHA:51608
Norrie Disease
Optic atrophy, Abnormal retinal vascular morphology, Retinal detachment, Abnormal vitreous humor ... ORPHA:649
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:495875
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Microphthalmia With Limb Anomalies
Optic atrophy, Venous insufficiency ORPHA:1106
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Papilledema, Varicose veins, C... ORPHA:2072
Occipital Horn Syndrome
Vascular dilatation, Venous insufficiency ORPHA:198
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia ORPHA:95494
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Ascending tubular aorta aneurysm, Arterial dissection, Venous insuffi... ORPHA:285
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Hypertension, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm,... ORPHA:286
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Varicose veins, Retinal coloboma ORPHA:500095
Ehlers-Danlos Syndrome, Vascular Type
Carotid cavernous fistula, Dilatation of the cerebral artery, Arterial rupture, Recurrent intrapu... OMIM:130050
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Neoplasm of the thymus, Small intestine carcinoid, Increased circulating... ORPHA:99889
Thauvin-Robinet-Faivre Syndrome
Varicose veins OMIM:617107
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma ORPHA:508488
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Dysphagia, High palate, Esophageal varix, Cleft soft palate, Hypomagnesemia, Hepat... OMIM:619503
Faundes-Banka Syndrome
Fetal ascites, Dysphagia, Cleft palate, Gastroesophageal reflux OMIM:619376

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 Angptl4

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 Angptl4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Brown adipose tissue derived ANGPTL4 controls glucose and lipid metabolism and regulates thermogenesis. Molecular metabolism (March 2018) Angptl4tm1c(EUCOMM)Hmgu Angptl4tm1a(EUCOMM)Hmgu PMC6001401
Absence of ANGPTL4 in adipose tissue improves glucose tolerance and attenuates atherogenesis. JCI insight (March 2018) Angptl4tm1a(EUCOMM)Hmgu PMC5926923

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MGI Allele Allele Type Produced
Angptl4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Angptl4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Angptl4tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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