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Gene: Angpt2 MGI:1202890

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Gene Summary

Name:
angiopoietin 2
Synonyms:
Ang2,  Ang-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, incomplete penetrance Angpt2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Angpt2em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Angpt2em1(IMPC)Mbp HET Early adult 0.00
small thymus Angpt2em1(IMPC)Mbp HOM Early adult 0.00
abnormal thymus morphology Angpt2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Angpt2em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Angpt2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Angpt2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Angpt2 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 Angpt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 10
Lymphedema OMIM:619369
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452

The table below shows human diseases predicted to be associated to Angpt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Kerion Celsi
Lymphadenopathy ORPHA:499
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Chylous Ascites
Ascites, Abnormal intestine morphology, Lymphedema ORPHA:1160
Ascites, Chylous
Chylous ascites OMIM:208300
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... ORPHA:1041
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Esophageal varix, Hepatocellular carc... OMIM:619463
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Ascites, Lymphadenopathy ORPHA:26790
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... OMIM:619433
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Abnormal macular morphology ORPHA:87876
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ascites, Lymphadenopathy, Hepatomegaly ORPHA:858
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Glycogen Storage Disease Iv
Polyhydramnios, Edema, Portal hypertension, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... OMIM:232500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... OMIM:137940
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Edema, Pericardial effusion, Functional abnorma... ORPHA:90362
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Cutis laxa OMIM:301045
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios ORPHA:1046
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Rayn... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, ... OMIM:614702
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Edema OMIM:603278
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, High palate, Ascites OMIM:269920
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites ORPHA:890
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Dysphagia, Hematochezia, Protein... ORPHA:2070
Splenoportal Vascular Anomalies
Splenomegaly, Ascites OMIM:271500
Mulibrey Nanism
Hepatomegaly, Congestive heart failure, Hydrops fetalis, Pigmentary retinopathy, Microglossia, As... OMIM:253250
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Cherry red spot of the... OMIM:256550
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Edema, Protein-losing enteropathy, Steatorrhea, Lymphangiectasis OMIM:602579
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites ORPHA:834
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Patent ductus arteriosus, Protein-losing enteropathy, Neonatal death, Ascite... OMIM:608104
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Alg8-Cdg
Abnormality of the gastrointestinal tract, Edema, Optic atrophy, Hydrops fetalis, Cutis laxa, Mac... ORPHA:79325
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Edema, Protruding tongue, Optic atrophy, Hep... ORPHA:93400
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, P... ORPHA:90308
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Abnormal intestin... OMIM:226300
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cleft palate, Retinal neovascularization OMIM:619074
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia, Dehydration ORPHA:2290
Wolman Disease
Hepatomegaly, Splenomegaly, Esophageal varix, Steatorrhea, Ascites ORPHA:75233
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Skin ul... ORPHA:779
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Optic atrophy, Exudative retinopathy, Intestinal bleeding, Thin skin, Gas... OMIM:612199
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia,... OMIM:235200
Diarrhea 9
Villous atrophy OMIM:618168
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Oligohydramnios, Esophagitis, Hepatosplenomegaly ORPHA:541423
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Arterial rupture, Dermal translucency OMIM:619120
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency OMIM:614438
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Optic nerve hypoplasia, Polyhydramnios, Patent ductus arteriosus, Right ... OMIM:617506
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Ileus ORPHA:168811
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Combined Oxidative Phosphorylation Deficiency 5
Redundant neck skin, Hypertrophic cardiomyopathy, Ascites, Edema OMIM:611719
Niemann-Pick Disease, Type A
Hepatomegaly, Splenomegaly, Lymphadenopathy, Cherry red spot of the macula, Ascites OMIM:257200
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Facial erythema, Ascites ORPHA:284227
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Villous atrophy, Enterocolitis, Diffuse alveolar hemorrhage OMIM:616050
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Pleural effusion, Ascit... OMIM:617397
De Barsy Syndrome
Abnormal fundus fluorescein angiography, Patent ductus arteriosus, Cutis laxa, Excessive wrinkled... ORPHA:2962
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Perianal erythema, Perioral erythema, Duodenitis OMIM:614328
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites OMIM:608776
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Optic atrophy, Bifid uvula, High palate, Iris coloboma OMIM:601110
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Ileus, Lymphadenopathy, Ascites ORPHA:83469
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Redundant neck skin, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenome... OMIM:235255
Familial Atrial Myxoma
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Ascites ORPHA:615
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Dermal translucency OMIM:619115
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart fa... ORPHA:367
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... OMIM:615710
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ascites OMIM:615122
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Small vessel vascu... ORPHA:36412
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Pyloric stenosis, Pedal edema, Lymphadenopathy, Ascites ORPHA:381
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Patent ductus arteriosus, Hypertension, Second degree atrioventricular... OMIM:617021
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Ascites, ... ORPHA:99828
Cholestasis, Progressive Familial Intrahepatic, 3
Splenomegaly, Hepatomegaly, Ascites, Malabsorption OMIM:602347
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, L... OMIM:602450
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Angioedema, Recurrent infection of the gastrointestin... OMIM:256500
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Hypersplenism, Lymphadenopathy, ... ORPHA:98850
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Esophageal varix, ... ORPHA:64743
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud... OMIM:115197
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Psoriasiform dermatitis, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Psoriasiform lesion, Villous atrophy, Splenomega... OMIM:614700
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Gracile Bone Dysplasia
Asplenia, Aniridia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blepharochalasis, Redundant skin, Dermal translucency OMIM:225410
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... ORPHA:57777
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Retinopathy of prematurity, Mitr... OMIM:620244
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Optic atrophy, Chor... OMIM:619487
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Oligohydramnios, High palate, Peripapillary atrophy, Thin skin, Dermal translucency ORPHA:536467
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Protein-losing enteropath... OMIM:618183
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Cleft palate, Hypertrophic cardiomyopathy, Webbed neck, Pleural ... OMIM:616897
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pul... ORPHA:1655
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Colitis OMIM:614602
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cleft palate, Cutis laxa, Dermal translucency OMIM:615349
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Refractory Celiac Disease
Villous atrophy, Malabsorption, Protein-losing enteropathy, Jejunitis, Abnormal spleen physiology ORPHA:398063
Familial Mediterranean Fever
Intestinal obstruction, Pericarditis, Myocardial infarction, Malabsorption, Splenomegaly, Erythem... ORPHA:342
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly, Ulcerative colitis, Inflammation of... ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Dyspha... OMIM:608013
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Poems Syndrome
Papilledema, Edema, Pericardial effusion, Lymphadenopathy, Pulmonary arterial hypertension, Pleur... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Villous atrophy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusi... OMIM:212065
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Edema, Pericardial effusion, Raynaud phenomenon, Lymph... ORPHA:93552
Xfe Progeroid Syndrome
Optic atrophy, Dry skin, Hypertension, Ascites, Attenuation of retinal blood vessels OMIM:610965
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se... OMIM:261740
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Cervical lymphadeno... OMIM:619573
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... OMIM:612840
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Redundant skin, Protruding tongue, High, narrow palate, Patent ductus ar... OMIM:612289
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Cirrhosis, Familial
Hypertension, Ascites, Esophageal varix, Pulmonary arterial hypertension OMIM:215600
Farber Disease
Hydrops fetalis, Hepatosplenomegaly, Lymphadenopathy, Macular degeneration, Joint swelling, Cherr... ORPHA:333
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testi... ORPHA:54251
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... ORPHA:139411
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Retinal hamartoma, Abnormality of the lymphatic system, ... ORPHA:538
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Pulmonic stenosis, Dermal translucency OMIM:618343
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Pedal edema, Pulmonary arterial ... ORPHA:77259
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Telangiectasia of the skin, Patent ductus arteriosus, Ascites, Purpura ORPHA:1556
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cutis Laxa, Autosomal Recessive, Type Ib
Oligohydramnios, Cutis laxa, High palate, Bradycardia, Pulmonary insufficiency, Dermal translucency OMIM:614437
Immunodeficiency 22
Retinal vasculitis, Pericarditis, Ascites, Capillary leak OMIM:615758
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Neo... ORPHA:100085
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... ORPHA:567546
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Polyhydramnios, Edema, Hamartoma of tongue, Splenomegaly, P... OMIM:269860
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Ascites, Mitral regurgitation ORPHA:2848
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Patent ductus arter... ORPHA:84064
Barber-Say Syndrome
Redundant skin, Velopharyngeal insufficiency, High palate, Premature skin wrinkling, Dry skin, De... OMIM:209885
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Cutis laxa, ... ORPHA:90348
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... OMIM:619375
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, Ascites OMIM:200995
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Ste... OMIM:557000
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Acholic stools, Ascites OMIM:617394
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus, Lymphadenopathy OMIM:304790
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Liver Disease, Severe Congenital
Hepatomegaly, Dermal translucency, Chronic gastritis, Splenomegaly, Patent ductus arteriosus, Abn... OMIM:619991
Restrictive Dermopathy
Polyhydramnios, Patent ductus arteriosus, Submucous cleft hard palate, Scaling skin, Webbed neck,... ORPHA:1662
Fumarase Deficiency
Necrotizing enterocolitis, Polyhydramnios, Optic atrophy, High palate, Pallor, Ascites OMIM:606812
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy ORPHA:37748
Necrotizing Enterocolitis
Shock, Edema, Bradycardia, Hypotension, Ascites ORPHA:391673
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis, Pulmonary lympha... ORPHA:2136
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Dehydration OMIM:619377
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... ORPHA:98848
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:618495
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy OMIM:609981
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Portal hypertension, Absence of lymph node germinal center, Hepatosplenomegaly, Rec... ORPHA:79124
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hepatomegaly, Splenomegaly, Optic atrophy, Hepatosplenomegaly, Stillbirth, Asc... OMIM:259720
Immunodeficiency 31C
Hepatomegaly, Villous atrophy, Splenomegaly, Lymphadenopathy, Gastrointestinal eosinophilia, Prot... OMIM:614162
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... OMIM:615237
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatocellular necrosis, Ascites OMIM:251880
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi... ORPHA:974
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Redundant skin, Periorbital edema, Pyloric stenosis, Rectal prolapse, Cutis lax... OMIM:613177
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hydrops fetalis, Cleft palate, High palate, Ascites OMIM:614091
Perlman Syndrome
Distal ileal atresia, Polyhydramnios, Edema, Volvulus, Ascites, Visceromegaly OMIM:267000
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia OMIM:615387
Immunodeficiency, Common Variable, 1
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... OMIM:607594
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, Internal hem... ORPHA:99827
Chondrodysplasia, Blomstrand Type
Stillbirth, Fetal ascites, Hydrops fetalis, Polyhydramnios OMIM:215045
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Medullary Thyroid Carcinoma
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy ORPHA:1332
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess, Pleural effusion, Asc... OMIM:306400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy ORPHA:397596
Fibromuscular Dysplasia, Multifocal
Hiatus hernia, High palate, Striae distensae, Dermal translucency OMIM:619329
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Cleft palate, Bifid uvula, ... OMIM:609192
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death OMIM:620014
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Spider hemangioma, Hepatocellular carcinoma, Celiac disease, Sp... ORPHA:171
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... ORPHA:507
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Polyhydramnios, Splenomegaly, Pulmonic steno... OMIM:222470
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy ORPHA:100086
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Vipoma
Hepatomegaly, Malabsorption, Abnormal abdomen morphology, Erythema, Dehydration, Hematochezia, Ne... ORPHA:97282
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... ORPHA:3226
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Esophageal varix, Ascites ORPHA:53035
Fraser Syndrome 3
Stillbirth, Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ... OMIM:614034
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Celiac disease, Gastrointestinal inflammation, Hepa... ORPHA:186
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... OMIM:613011
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Dehydration ORPHA:1667
Alg9-Cdg
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Pericardial effusion, Hydrops fetalis, Ga... ORPHA:79328
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Cleft ... ORPHA:1052
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne... OMIM:308240
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricular tachycardia, Hepato... ORPHA:97214
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the thymus, Abnorm... ORPHA:97261
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pleural effusion, Ascites OMIM:620369
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Follicular hyperplasia, Splenomegaly, Lymphadenopathy... OMIM:619381
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... OMIM:301078
Lysosomal Acid Lipase Deficiency
Hypersplenism, Esophageal varix, Hypovolemia, Dehydration, Hepatosplenomegaly, Hypotension, Steat... ORPHA:275761
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Hepatomegaly, Villous atrophy, Portal hypertension ORPHA:567983
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Hypersplenism, Splenomegaly... ORPHA:731
Loeys-Dietz Syndrome 3
Atrial fibrillation, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage, Patent ... OMIM:613795
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Necrolytic migratory erythema,... ORPHA:97280
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Hepatocellular ... OMIM:276700
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... ORPHA:824
Loeys-Dietz Syndrome 2
Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Cleft palate, Bifid uvula, ... OMIM:610168
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy, Thin skin, Pulmonic stenosis, Submu... ORPHA:3455
Rhabdoid Tumor
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Senior-Boichis Syndrome
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypertension, Ascites ORPHA:84081
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad... ORPHA:100026
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Congestive heart failure, Esophageal carcinoma, Enterocolitis, Renovascular hype... ORPHA:391487
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, I... ORPHA:97278
Peripheral Primitive Neuroectodermal Tumor
Ascites, Pelvic mass ORPHA:370348
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosple... OMIM:618935
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Wilson Disease
Hepatomegaly, Edema, Splenomegaly, Esophageal varix, Pedal edema, Dysphagia, Hepatocellular carci... OMIM:277900
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abnormal abdomen morphology, S... ORPHA:97283
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Chorioretinal scar OMIM:277175
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Acral ulceration, Hepatocellular carcinoma, Ascites OMIM:256810
Chronic Graft Versus Host Disease
Esophageal ulceration, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, Abnormal esophagus... ORPHA:99921
Intrahepatic Cholestasis Of Pregnancy
Ascites ORPHA:69665
Nephroblastoma
Lymphadenopathy ORPHA:654
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Redundant skin, Transient ischemic attack, High, narrow palate, Cysto... ORPHA:286
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Alg6-Cdg
Macroglossia, Rod-cone dystrophy, Protein-losing enteropathy, Retinal degeneration ORPHA:79320
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Decreased e... ORPHA:2686
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Protein-losing enteropathy ORPHA:79319
Lig4 Syndrome
Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy ORPHA:99812
Roifman Syndrome
Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Papa Syndrome
Lymphadenopathy ORPHA:69126
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia OMIM:616100
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Hemothorax, Cystocele, Arterial... OMIM:130050
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal small intestine morpholo... ORPHA:90291
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Polyhydramnios, Lymphedema OMIM:618154
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Hepatomegaly, Ascites OMIM:301072
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Portal hypertension, Esophageal varix, Anasarca, Gastroesophageal reflux,... OMIM:613658
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... ORPHA:85450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Edema, Retinal hemorrhage, Hypertens... OMIM:609049
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Ascites, Polyhydramnios OMIM:617156
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Atresia Of Urethra
Pulmonary insufficiency, Ascites, Oligohydramnios ORPHA:105
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel... ORPHA:158061
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Cinca Syndrome
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal granulocyte mor... ORPHA:1451
Felty Syndrome
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutropenia, Abnorm... ORPHA:47612
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy ORPHA:79456
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Congenital Tracheal Stenosis
Fetal ascites, Abnormal stomach morphology, Polyhydramnios, Patent ductus arteriosus, Tracheoesop... ORPHA:141127
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Transient ischemic attack, Edema, Polyhydramnios, Pericardial effus... ORPHA:51608
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:169090
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest,... OMIM:619534
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Dysphagia, Ascites ORPHA:646
Agammaglobulinemia, X-Linked
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatit... OMIM:300755
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Bone marrow hypocellularity ORPHA:829
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Anasarca, Ascites OMIM:203700
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... OMIM:235510
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis... OMIM:620185
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Abnormal dense granules, Splenomegaly, Thrombocytopeni... OMIM:214500
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, He... OMIM:603553
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope... OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia OMIM:267700
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Lymphade... OMIM:610377
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233710
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Mixed Connective Tissue Disease
Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia ORPHA:809
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, Abnormal l... ORPHA:50918
Legionnaires Disease
Splenomegaly, Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233690
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Igg4-Related Submandibular Gland Disease
Eosinophilia, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopath... ORPHA:449432
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Portal hypertension, Malabsorption, Splenomegaly, Dilated card... OMIM:243800
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... ORPHA:83471
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Anemia OMIM:615895
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... OMIM:602782
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Fetal ascites, Dysphagia OMIM:257220
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, De... ORPHA:168569
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Familial Pancreatic Carcinoma
Ovarian carcinoma, Pancreatic adenocarcinoma, Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, High, narrow palate ORPHA:2714
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Dysphagia OMIM:607625
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Nonimmune hydrops fetalis, Polyhydramnios, Intestinal malrotation, Asple... OMIM:265380
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Lymphadenopathy ORPHA:139402
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma OMIM:221900
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia ORPHA:1572
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... ORPHA:3261
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Graft Versus Host Disease
Hemophagocytosis, Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Aden... ORPHA:79076
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, Bone m... OMIM:615688
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy ORPHA:100080
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... ORPHA:37042
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft palate OMIM:603671
Cherubism
Submandibular lymph node enlargement OMIM:118400
Q Fever
Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:781
Malakoplakia
Orchitis, Prostate neoplasm, Follicular hyperplasia ORPHA:556
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia, Anemia OMIM:619418
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Lymphadenopathy ORPHA:32960
D-Bifunctional Protein Deficiency
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, High palate OMIM:261515
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... ORPHA:637
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goiter, Abnormal... ORPHA:79078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Coccidioidomycosis
Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, ... ORPHA:228123
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Patent ductus arteriosus, Submucous ... OMIM:300166
Brucellosis
Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Orchitis, Epididymitis, Lymphadenopa... ORPHA:1304
Igg4-Related Ophthalmic Disease
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphade... ORPHA:449563
Sarcoidosis
Hemolytic anemia, Parotitis, Eosinophilia, Abnormal reproductive system morphology, Thrombocytope... ORPHA:797
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroid... ORPHA:653
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100079
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... OMIM:157170
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Thrombocytopenia, Lymphadenopathy, Leukopenia, Normochromic a... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Enlarged la... OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Lymphadenopathy, L... ORPHA:99826
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Sub... OMIM:619539
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Fetal ascites, Portal hypertension, Erythema, Esophageal varix, Hepatosplenome... OMIM:619503
Behçet Disease
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:117
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Splenomegaly, Epididymitis, Lymphadenopathy, Thrombocytopenia OMIM:256040
Igg4-Related Kidney Disease
Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis... ORPHA:449395
Whim Syndrome
Lymphadenitis, Abnormal small intestine morphology, Parotitis ORPHA:51636
Blau Syndrome
Splenomegaly, Abnormal salivary gland morphology, Anemia, Lymphadenopathy ORPHA:90340
Faundes-Banka Syndrome
Cleft palate, Gastroesophageal reflux, Fetal ascites, Dysphagia OMIM:619376
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormal thymus morphology, Cleft palate, Abnormality of the... OMIM:219000
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Abnormal prolactin level, Lymphadenopathy ORPHA:3385
Leptospirosis
Thrombocytopenia, Lymphadenopathy ORPHA:509
Lymphatic Malformation 10
Lymphedema OMIM:619369
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452

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 Angpt2

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 Angpt2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A lymphatic defect causes ocular hypertension and glaucoma in mice. The Journal of clinical investigation (September 2014) Angpt2tm1c(KOMP)Seq PMC4191022

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Angpt2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Angpt2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Angpt2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Angpt2tm92002(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Angpt2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Angpt2tm92002(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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