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Gene: Mtap MGI:1914152

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Gene Summary

Name:
methylthioadenosine phosphorylase
Synonyms:
1300019I21Rik

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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, complete penetrance Mtapem1(IMPC)Mbp HOM   Early adult 0.00
enlarged lymph nodes Mtapem1(IMPC)Mbp HET Late adult 0.00
abnormal vitreous body morphology Mtapem1(IMPC)Mbp HET   Early adult 1.15×10-07
abnormal skin morphology Mtapem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Mtapem1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Mtapem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Mtapem1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Mtapem1(IMPC)Mbp HET Early adult 0.00
abnormal vitelline vasculature morphology Mtapem1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Mtapem1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Mtapem1(IMPC)Mbp HOM E9.5 0.00
abnormal liver morphology Mtapem1(IMPC)Mbp HET Late adult 0.00
cataract Mtapem1(IMPC)Mbp HET   Early adult 1.85×10-07
enlarged spleen Mtapem1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Mtapem1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Mtapem1(IMPC)Mbp HET Early adult 0.00
abnormal thymus morphology Mtapem1(IMPC)Mbp HET Early adult 0.00
enlarged thymus Mtapem1(IMPC)Mbp HET Early adult 0.00
small liver Mtapem1(IMPC)Mbp HET Early adult 0.00
abnormal chorioallantoic fusion Mtapem1(IMPC)Mbp HOM E9.5 0.00
enlarged heart Mtapem1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Mtapem1(IMPC)Mbp HET Late adult 0.00
abnormal allantois morphology Mtapem1(IMPC)Mbp HOM E9.5 0.00

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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

35 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Presenile cataracts OMIM:112250

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Takayasu Arteritis
Arteritis OMIM:207600
Temporal Arteritis
Retinal arteritis OMIM:187360
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Moyamoya Disease 1
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Peritonitis, Telangiec... ORPHA:679
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Kerion Celsi
Lymphadenopathy ORPHA:499
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Jaundice, Splenomegaly ORPHA:79238
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, Thrombocyto... OMIM:603552
Listeriosis
Pneumonia, Arteritis, Liver abscess, Congestive heart failure, Osteomyelitis, Pyelonephritis, Cho... ORPHA:533
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Abnormality of the pulmonary vasculature, Scleritis, Pancreatiti... ORPHA:93126
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy ORPHA:79292
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Ret... ORPHA:449395
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Primary Sjögren Syndrome
Vasculitis, Usual interstitial pneumonia, Arteritis, Biliary cirrhosis, Bronchitis, Parotitis, Ch... ORPHA:289390
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Radiation Proctitis
Hematochezia, Arteritis, Abnormal vascular morphology, Abnormal gastrointestinal vascular morphol... ORPHA:70475
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno... OMIM:613313
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:97290
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia... ORPHA:79477
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho... ORPHA:54251
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:319487
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Conju... OMIM:240500
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Chemosis... OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ... OMIM:613490
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:602390
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Nephroblastoma
Aniridia, Lymphadenopathy, Neoplasm of the liver ORPHA:654
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Splenomegaly, C... OMIM:235200
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... ORPHA:2969
Galactose Mutarotase Deficiency
Cholestasis, Cataract, Decreased liver function, Hepatomegaly ORPHA:570422
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m... OMIM:256550
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Primary Erythromelalgia
Vasculitis, Recurrent respiratory infections ORPHA:90026
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anemia, Ovari... ORPHA:83469
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Hepa... ORPHA:290
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... ORPHA:1332
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Lymphadenopathy, Anemia OMIM:607115
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Griscelli Syndrome
Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphade... ORPHA:381
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:603909
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Vasculitis, Skin rash OMIM:601979
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... OMIM:616651
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Coats Disease
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... OMIM:212140
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Conjunctival ... ORPHA:3392
Hemochromatosis, Type 4
Cataract, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia OMIM:606069
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly OMIM:620210
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration OMIM:614292
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Aggressive Systemic Mastocytosis
Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt... ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Macrophage Activation Syndrome
Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf... ORPHA:158061
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminot... OMIM:618805
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:398124
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:3162
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired... OMIM:618935
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,... OMIM:619644
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Mevalonic Aciduria
Cataract, Nuclear cataract, Elevated circulating hepatic transaminase concentration, Fluctuating ... OMIM:610377
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis... OMIM:613489
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Harderoporphyria
Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Hemolytic anemia OMIM:618892
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Immunodeficiency 10
Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym... OMIM:612783
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy OMIM:618220
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ... ORPHA:169090
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Joubert Syndrome 33
Splenomegaly OMIM:617767
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Cinca Syndrome
Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality... ORPHA:1451
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepatic transaminas... OMIM:615895
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Ly... ORPHA:83313
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhos... ORPHA:465508
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Galactosemia I
Cataract, Decreased liver function, Elevated circulating aspartate aminotransferase concentration... OMIM:230400
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Splenomegaly, Sclerosing cholangitis, Enlarged ... OMIM:308230
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardia... ORPHA:36412
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, ... ORPHA:160
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septal defect, Hepatome... OMIM:615630
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Extramedullary hematopoiesis, Persistence of hemoglobin... ORPHA:231222
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Cryptorchidism, Optic nerv... OMIM:214110
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Cervical lymphadenopathy, Conjunctival hyperemia, Hepatomegaly, Conjunctivitis OMIM:142680
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Mitral valve p... OMIM:602782
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:613179
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Corneal opacity, Hepa... ORPHA:585
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Thymoma, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct... OMIM:269200
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,... OMIM:617591
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly... ORPHA:2686
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Chediak-Higashi Syndrome
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ... OMIM:214500
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Chronic otitis media, Elevated circulating hepatic transaminase concentrat... ORPHA:1572
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... ORPHA:294
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites OMIM:614702
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis ORPHA:91138
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis ORPHA:70578
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly ORPHA:99812
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,... ORPHA:293173
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Macul... ORPHA:333
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... ORPHA:57777
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233710
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Gaucher Disease, Type I
Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat... OMIM:230800
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Mixed Connective Tissue Disease
Hemolytic anemia, Leukopenia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Mediastin... ORPHA:809
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300842
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Complement Factor I Deficiency
Vasculitis, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Sept... OMIM:610984
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor ORPHA:309288
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymph... ORPHA:85450
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas... ORPHA:100093
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega... OMIM:267700
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233690
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... ORPHA:100086
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Eosino... ORPHA:139402
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase... ORPHA:100080
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni... OMIM:608013
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Enteroviral hepatitis, Anem... OMIM:300755
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... OMIM:120200
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p... OMIM:614700
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Kaposiform Lymphangiomatosis