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Gene: Fam161b MGI:2443027

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Gene Summary

Name:
family with sequence similarity 161, member B
Synonyms:
9830169C18Rik

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
enlarged thymus Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating serum albumin level Fam161bem1(IMPC)Ccpcz HOM   Early adult 1.26×10-05
abnormal skeletal muscle morphology Fam161bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fam161bem1(IMPC)Ccpcz HOM Early adult 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 Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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XRay Images Forepaw

16 Images

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Human diseases caused by Fam161b mutations

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

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

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

The table below shows human diseases predicted to be associated to Fam161b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased variability in muscle fiber diameter, Decreased hepatic echogenicit... OMIM:613752
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... OMIM:603552
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Hemochromatosis, Type 2B
Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Increased cir... OMIM:613313
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly ORPHA:100025
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the liver, Abnormality of the pancr... ORPHA:543
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholestasis, Hepatomegaly,... OMIM:620010
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... OMIM:616828
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... ORPHA:158061
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridem... OMIM:619013
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... ORPHA:64743
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Hepatos... ORPHA:367
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Glycogen Storage Disease Ixb
Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle glycogen conten... OMIM:261750
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Dilated cardiomyopathy, Increased circulating ferritin concentration, He... OMIM:602390
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Granulomatous Slack Skin
Abnormal lymph node morphology, Hypercalcemia ORPHA:33111
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... OMIM:615559
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy OMIM:608540
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... OMIM:616278
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalb... OMIM:618805
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbiliru... OMIM:269920
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Isolated Anencephaly
Congenital diaphragmatic hernia, Thymus hyperplasia ORPHA:563609
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega... OMIM:214900
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Skeletal muscle atro... OMIM:619183
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Myopathy, Hepat... OMIM:617713
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Hemochromatosis, Type 1
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Testicular atrophy, Increased circulating ferr... OMIM:235200
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Increased circulat... OMIM:614034
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated ... OMIM:256550
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... ORPHA:79477
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal amyotrophy, Hypoalbuminemia, Distal lower limb muscle weakness, Hypercholesterolemia ORPHA:94124
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatic bridging fibrosis, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly OMIM:616719
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... OMIM:618886
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Hepatomeg... OMIM:205400
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... OMIM:618892
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effu... ORPHA:90362
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... ORPHA:540
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:56425
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... OMIM:607115
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:2584
Gaucher Disease Type 2
Flexion contracture, Splenomegaly, Hepatomegaly ORPHA:77260
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... OMIM:609981
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia OMIM:608184
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... ORPHA:79301
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... OMIM:251880
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Coenzyme Q10 Deficiency, Primary, 3
Decreased level of coenzyme Q10 in skeletal muscle, Hypoalbuminemia OMIM:614652
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi... OMIM:616689
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Limb hypertonia, Perimembranous ventricular septal defect, Hyperprolinemia, Card... OMIM:619170
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... OMIM:235700
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... OMIM:185000
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Perimembranous ventricular septal defect, Ascites, Camptodactyly, Cholestasis, Hepatomega... OMIM:608104
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... ORPHA:829
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Microvesicular hepatic steatosis, Decreased plasma carnitine, Reduced muscle carn... OMIM:212140
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy OMIM:615085
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... OMIM:182900
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter OMIM:614096
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Tendon rupture, Increased circu... ORPHA:85451
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... OMIM:600649
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Increased red cell ... OMIM:603903
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Sézary Syndrome
Lymphadenopathy, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology ORPHA:3162
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Ascites, Intestina... OMIM:226300
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Roifman Syndrome
Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosino... OMIM:616651
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Flexion contracture, Enlarged kidney, Macroglossia, Atrial septal defect, Mac... OMIM:617303
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... ORPHA:381
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Glycogen Storage Disease Ii
Firm muscles, Macroglossia, Increased circulating NT-proBNP concentration, Elevated circulating c... OMIM:232300
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Myopathy OMIM:612783
Congenital Enterovirus Infection
Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Hepatitis, Peric... ORPHA:292
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Lymphadenopathy, Skeletal muscle atrophy, Bone-marrow foam cells, Hepatom... OMIM:257200
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Mcleod Syndrome
Reduced haptoglobin level, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine ... OMIM:300842
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... ORPHA:3226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, ... ORPHA:79312
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... OMIM:619750
Alg6-Cdg
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Macroglossia, Hypoal... ORPHA:79320
Wolcott-Rallison Syndrome
Double outlet right ventricle, Abnormality of the liver, Lymphocytosis, Hyperbilirubinemia, Jaund... ORPHA:1667
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... ORPHA:277
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Elevated circulating creatine ki... OMIM:615895
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... ORPHA:83469
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Elevated transferrin saturatio... ORPHA:465508
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatomegaly, Hypoalbuminemia OMIM:602579
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... ORPHA:824
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis OMIM:618042
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia ORPHA:79327
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated circulating creatine kinase conce... ORPHA:370
Glycogen Storage Disease Xii
Reduced haptoglobin level, Muscle fiber splitting, Anemia, Increased variability in muscle fiber ... OMIM:611881
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy, Abnormality of the liver, Muscular dystrophy, Hyperhomocystin... ORPHA:88618
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Increased serum pyruvate, Macrocytic anemia, Hyperprolinemia, Splenomegaly, Card... OMIM:619046
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Anemia, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, H... OMIM:619487
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Skeletal myopathy, Pancreatitis, Abnormality of the calf musculature, A... ORPHA:565612
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... OMIM:300908
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Intermittent jaundice, Increased mean corpuscular hemoglobin concentra... ORPHA:3202
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Joubert Syndrome 33
Splenomegaly OMIM:617767
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia ORPHA:69077
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... ORPHA:615
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy ORPHA:3386
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... OMIM:241600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyp... ORPHA:42
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Macroglossia, Increased circulating NT-pro... ORPHA:85443
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Facial palsy ORPHA:100084
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Decreased plasma c... OMIM:201475
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... ORPHA:911
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Castleman Disease
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Decreased mean corpusc... ORPHA:160
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Elevated circulating C-react... OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Lymphadenopathy, Acute pancreat... OMIM:618935
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis ORPHA:2414
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Flexion contracture, Lymphopenia, Myositis, Lymphadenopathy, Hepatomegaly, Thrombocytopen... OMIM:617591
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Myopathy, Skeletal muscle hypertr... ORPHA:90970
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia ORPHA:353298
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Thymu... OMIM:619036
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... ORPHA:276
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Camptodactyly of finger, Retroperitoneal fibrosis, Decreased response to g... OMIM:602782
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly OMIM:619064
Fetal Gaucher Disease
Flexion contracture, Pancytopenia, Arthrogryposis multiplex congenita, Thrombocytopenia, Hepatome... ORPHA:85212
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Mevalonic Aciduria
Splenomegaly ORPHA:29
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Macroglossia, Ovarian neoplasm ORPHA:2221
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Pancreatitis, Abnormality of skeletal muscle fiber size, Hepatic steato... ORPHA:79083
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy OMIM:611490
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Ascite... ORPHA:2070
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Abnormal skeletal muscle morphology, Goiter ORPHA:142
Adams-Oliver Syndrome 6
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly OMIM:616589
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Myopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... OMIM:619463
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hyperbilirubinemia, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre... ORPHA:98850
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... ORPHA:1451
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... OMIM:613027
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Abnormality of skeletal muscle fiber size, Hepatic steatosis, Hypertrophic cardiomy... ORPHA:2348
Cirrhotic Cardiomyopathy
Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Jaundice, Left v... ORPHA:57777
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Tularemia
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,... ORPHA:3392
Elliptocytosis 1
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly OMIM:611804
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Primary testicular failure, Abnormal testis morphology, H... ORPHA:85450
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Mpi-Cdg
Portal hypertension, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Adams-Oliver Syndrome 5
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular... OMIM:616028
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... ORPHA:549
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Elevated maternal serum alpha-fetoprotein, Pancreatic c... ORPHA:677
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Pituita... ORPHA:97289
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Danon Disease
Generalized amyotrophy, Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatin... OMIM:300257
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Ventricular septal defe... OMIM:617022
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypoalbuminemia OMIM:618347
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Elevated circulating C-reactive prot... OMIM:618048
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa... ORPHA:1332
Tangier Disease
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Facial dipleg... ORPHA:31150
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co... OMIM:208920
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... OMIM:607765
Felty Syndrome
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Redu... ORPHA:37042
Citrullinemia Type Ii
Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic steatosis, Hypoproteine... ORPHA:247585
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly,... OMIM:614702
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Myositis, Lymphadenopathy ORPHA:69126
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Pericardial e... OMIM:235510
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Omenn Syndrome
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... ORPHA:39041
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hepatic steatosis, ... OMIM:255120
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, A... OMIM:222470
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... OMIM:615947
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... ORPHA:290
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Wilson Disease
Cirrhosis, Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased... OMIM:277900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Liver abscess, Constrictive pericarditis, Leukocytosis, ... ORPHA:67
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot OMIM:601005
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... OMIM:612714
Avian Influenza
Leukopenia, Rhabdomyolysis, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentr... ORPHA:454836
Free Sialic Acid Storage Disease
Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Splenomegaly, Hepatomegaly ORPHA:834
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Patent foramen ovale, Flexion contracture, Enlarged kidney, Macroglossia, Atr... ORPHA:505248
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Melkersson-Rosenthal Syndrome
Lymphadenopathy, Macroglossia, Facial palsy ORPHA:2483
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... ORPHA:79456
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa... OMIM:613070
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypoalbuminemia, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Abetalipoproteinemia
Hepatic fibrosis, Decreased LDL cholesterol concentration, Cirrhosis, Anemia, Hyperbilirubinemia,... ORPHA:14
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver ORPHA:654
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Wolman Disease
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... OMIM:617394
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly OMIM:268800
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... ORPHA:398124
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 4
Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Transaldolase Deficiency
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... OMIM:606003
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... OMIM:618652
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cirrhosis, Generalized amyotrophy, Hepatitis, Jaundice, Pancreatitis, Cholangio... ORPHA:171
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Increased H... ORPHA:231222
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Pericardial effusion, Lymphadenopathy, Hepatomegaly, Ascites, Abnormal heart valve ... ORPHA:36412
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Hepatic bridging fibrosis, In... OMIM:613812
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly ORPHA:2969
Mulibrey Nanism
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites OMIM:253250
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231226
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Lower limb muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concent... ORPHA:268
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Mevalonic Aciduria
Anemia, Elevated circulating creatine kinase concentration, Hepatosplenomegaly, Normocytic hypopl... OMIM:610377
Sitosterolemia 1
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Elevated cir... OMIM:210250
Infantile Liver Failure Syndrome 3
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasis, Hepatomegaly... OMIM:618641
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Pericarditis, Myositis, Lymphadenopathy, Mediastinal lymphadenopath... ORPHA:809
Sarcoidosis, Susceptibility To, 2
Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration, Myopath... ORPHA:100093
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen... OMIM:242150
Cyclic Neutropenia
Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, Cervic... ORPHA:2686
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatos... ORPHA:231214
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Cryptorchidism, Lymphopenia, Hypoalbuminemia OMIM:617575
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... OMIM:306955
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... OMIM:619418
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Pericardial effusion, Cryptorchid... OMIM:618183
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:266500
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... OMIM:308230
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Limb-girdle muscle weakness, Rhabdomyolysis, Hepatocellular ... ORPHA:79240
Chediak-Higashi Syndrome
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Foot ... OMIM:214500
Acute Interstitial Pneumonia
Reduced hematocrit, Pericardial effusion, Lymphadenopathy, Elevated circulating C-reactive protei... ORPHA:79126
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... OMIM:208540
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy ORPHA:83313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, P... ORPHA:264580
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... OMIM:230800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi... OMIM:617099
Bacterial Toxic-Shock Syndrome
Hepatitis, Peritonitis, Hypocalcemia, Increased circulating metamyelocyte count, Elevated circula... ORPHA:36234
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Wilson Disease
Cirrhosis, Anemia, Proximal muscle weakness in lower limbs, Hepatitis, Jaundice, Hepatic steatosi... ORPHA:905
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... ORPHA:567548
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Graft Versus Host Disease
Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Myositis, Lymphadenopathy, Hemophagocytosis, Du... ORPHA:39812
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, L... ORPHA:32960
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233710
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Flexion contracture, Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyop... ORPHA:89842
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o... ORPHA:77259
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Myositis, Follicular hyperplasia, Skeletal muscle atrophy, Eleva... OMIM:615934
Juvenile Idiopathic Arthritis
Pericardial effusion, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:92
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Hepatic fibrosis, Flexion contracture, Pericardial effusion, Hepatic steatosis, P... OMIM:212065
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... OMIM:618278
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... ORPHA:1333