| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod... |
OMIM:615592 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... |
OMIM:308240 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Absent circulating... |
OMIM:620282 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Lymphoid hyperplasia, Decreased specific antibody response to polysaccharide vaccine, Splenomegal... |
OMIM:616452 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... |
ORPHA:75564 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Lung abscess, Decreased specific antibody respo... |
OMIM:241600 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... |
OMIM:301082 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n... |
OMIM:616050 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Immunodeficiency 91 And Hyperinflammation |
|
Megakaryocytopenia, Hepatomegaly, Acute hepatic failure, Neutrophilia, Elevated hepatic transamin... |
OMIM:619644 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Abnormal bone marrow cell morphology, Lymphadenopathy |
ORPHA:52416 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... |
OMIM:615122 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre... |
ORPHA:859 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Granulocytic hyperplasia, Anemia, Impaire... |
OMIM:226990 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... |
ORPHA:318 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
| Adult Idiopathic Neutropenia |
|
Granulocytic hypoplasia, Bone marrow hypercellularity, Abnormal neutrophil count, Abnormal bone m... |
ORPHA:2688 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc... |
OMIM:617872 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Primary Myelofibrosis |
|
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hy... |
ORPHA:824 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Re... |
OMIM:603553 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... |
OMIM:618986 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha... |
OMIM:619858 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... |
OMIM:619041 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Granulocytic hyperplasia |
OMIM:162830 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... |
OMIM:618987 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... |
OMIM:269840 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia |
OMIM:614743 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal bone marrow cell morphology |
ORPHA:86893 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Panhypogammaglobulinemia |
ORPHA:251009 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... |
OMIM:614742 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Lymp... |
ORPHA:101096 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... |
OMIM:613313 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... |
ORPHA:98813 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr... |
OMIM:618495 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Weight loss, Hepatomegaly |
ORPHA:79238 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Fail... |
OMIM:614700 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... |
ORPHA:33355 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failure to thri... |
OMIM:606054 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa... |
OMIM:606003 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... |
ORPHA:397596 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... |
OMIM:300400 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ... |
OMIM:617341 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Myeloid maturation arrest |
OMIM:619813 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... |
ORPHA:277 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... |
ORPHA:77259 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Elevated circu... |
OMIM:614034 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Hyperhomocystinemi... |
ORPHA:2169 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:618048 |
| Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
| Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, We... |
ORPHA:520 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... |
ORPHA:169154 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem... |
OMIM:277380 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251100 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t... |
ORPHA:90045 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal b... |
ORPHA:98848 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia, Abnormal bone marrow c... |
ORPHA:99812 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat... |
ORPHA:167 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei... |
OMIM:615688 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... |
OMIM:613490 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased circulating IgG level, Peritoneal effusion, Decreased circulating anti... |
ORPHA:90362 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia |
ORPHA:69077 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypercellularity, Increased circulating IgG level, Lymphocytosis, Increased B cell co... |
ORPHA:3261 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Fanconi-Like Syndrome |
|
Pancytopenia |
OMIM:227850 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
| Bangstad Syndrome |
|
Pancytopenia, Small for gestational age |
OMIM:210740 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ... |
ORPHA:829 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Failure to thrive, Pancreatitis,... |
ORPHA:79312 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... |
OMIM:612541 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Bone marrow arrest at the promyelocytic stage, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Sandhoff Disease |
|
Splenomegaly, Failure to thrive, Hepatomegaly |
ORPHA:796 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... |
OMIM:617099 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase |
ORPHA:75563 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hyperammonemia, Failure to thrive, Anemia, Hepatomegaly |
ORPHA:28 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Acute Monoblastic/Monocytic Leukemia |
|
Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, W... |
ORPHA:514 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology, Abnormal lymph... |
ORPHA:2584 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo... |
OMIM:269920 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:616553 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... |
OMIM:618805 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
| Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab... |
ORPHA:160 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly |
ORPHA:85414 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... |
OMIM:235555 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Dec... |
OMIM:619750 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Splenomegal... |
OMIM:617591 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... |
OMIM:257200 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Increase... |
OMIM:615846 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... |
ORPHA:400 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Abnormal T cell morpholog... |
OMIM:242900 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Hepatic failure, Elevated circulating creatine kinase concentration, Anemia |
OMIM:607426 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Failure to thriv... |
OMIM:610377 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... |
OMIM:224120 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
| Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
| Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Bone marrow hypercellulari... |
ORPHA:98849 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... |
OMIM:617052 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... |
ORPHA:848 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase c... |
OMIM:500009 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Abnormal T cell subset distribution, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:221139 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellularity, Ne... |
ORPHA:47612 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... |
ORPHA:890 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... |
OMIM:608184 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:613812 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,... |
ORPHA:2785 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Hepatosplenomegaly |
ORPHA:309288 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... |
OMIM:251880 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... |
OMIM:304790 |
| Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Failure to thrive, Thrombo... |
OMIM:606593 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor... |
ORPHA:39041 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... |
ORPHA:77261 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased c... |
ORPHA:83313 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... |
OMIM:619046 |
| Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy... |
ORPHA:542643 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hyperammonemia |
ORPHA:664 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... |
OMIM:181000 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... |
OMIM:601457 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly |
OMIM:228000 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... |
ORPHA:369 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... |
OMIM:227645 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Small for gestational age, Slende... |
OMIM:613658 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Sp... |
ORPHA:465508 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
| Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol in pla... |
ORPHA:79237 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79332 |
| Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Decrease... |
ORPHA:353298 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Elevated circulating creatine kinas... |
ORPHA:99827 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Decreased body ... |
ORPHA:1667 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbumi... |
ORPHA:67 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:121300 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula... |
OMIM:615673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... |
OMIM:619048 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... |
ORPHA:108 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-... |
ORPHA:50918 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv... |
OMIM:612852 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thro... |
OMIM:226300 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Bone marrow hypocellularity, Hypoph... |
ORPHA:562 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... |
ORPHA:171 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy |
ORPHA:26790 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:615934 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F... |
OMIM:251000 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc... |
ORPHA:171876 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca... |
ORPHA:254864 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno... |
ORPHA:367 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thr... |
OMIM:619487 |
| Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive, Anemia |
OMIM:620331 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:355 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow... |
OMIM:227646 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... |
OMIM:615438 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia... |
OMIM:170100 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... |
OMIM:613489 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... |
ORPHA:30391 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Anem... |
OMIM:608104 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Small for gestational age, Elevated circulating C-reac... |
ORPHA:1304 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
| Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
| Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:616651 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Abnormal bone marrow c... |
ORPHA:3318 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Failure to thrive, Elevated circulating C-reactive protein concentration, Hypochrom... |
OMIM:619423 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia |
ORPHA:85321 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:33577 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Dengue Fever |
|
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
| Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... |
ORPHA:549 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,... |
OMIM:619418 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,... |
ORPHA:781 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, ... |
ORPHA:39812 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, L... |
OMIM:602579 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... |
OMIM:619064 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F... |
ORPHA:79319 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva... |
ORPHA:90051 |
| Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphadenopathy, W... |
ORPHA:139402 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:256550 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia, Hepatomegaly |
ORPHA:2930 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Granuloma |
ORPHA:1855 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Anemia |
OMIM:613951 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276556 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa... |
ORPHA:2072 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276575 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Hyperammonemia, Cholestas... |
ORPHA:292 |
| Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of ... |
ORPHA:97289 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri... |
OMIM:618278 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... |
ORPHA:1333 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Pancytopenia |
OMIM:618321 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
| Seckel Syndrome 1 |
|
Pancytopenia |
OMIM:210600 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Anemia, Weight loss |
ORPHA:324964 |
| Lysinuric Protein Intolerance |
|
Bone marrow hypercellularity, Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, ... |
ORPHA:470 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ab... |
ORPHA:85443 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... |
ORPHA:20 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia |
ORPHA:35 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Ascites, Failure to thrive in infancy, Hepatomegaly |
ORPHA:834 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia |
OMIM:239200 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Abnormality of body weight, Increased... |
ORPHA:2298 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Hypoalbuminemia,... |
OMIM:617303 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Failure to ... |
OMIM:276700 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia |
ORPHA:2909 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
| Poems Syndrome |
|
Lymphadenopathy, Weight loss, Increased circulating antibody level, Thrombocytosis, Ascites, Poly... |
ORPHA:2905 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:249100 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... |
OMIM:257220 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
| Aredyld Syndrome |
|
Splenomegaly, Cachexia, Hepatomegaly |
ORPHA:1133 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Cholestasis... |
OMIM:619488 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... |
ORPHA:33226 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia |
OMIM:610832 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... |
OMIM:251900 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Reduced C-peptide level, Weight loss, Neoplasm of th... |
ORPHA:2126 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen... |
OMIM:222470 |
| Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail... |
OMIM:614602 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Weight loss, Iron deficiency anemia, Hypocalcem... |
OMIM:212750 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Dubowitz Syndrome |
|
Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia, Decreased circulating IgG lev... |
OMIM:223370 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
| Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:305000 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Anemia, Decreased circulating total IgM, Decreased circulating IgG le... |
OMIM:612301 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:3386 |
| Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Hepatosplenomegaly |
ORPHA:309282 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic... |
ORPHA:100093 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... |
OMIM:235255 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:604173 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperammonemia, Hyperuricemia, Anemia, Hepatomegaly |
OMIM:246450 |
| Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia |
OMIM:618440 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa... |
OMIM:251290 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
| Martin-Probst Syndrome |
|
Pancytopenia |
OMIM:300519 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
| Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Failure to thrive, Sea-blue histiocytosis, Hepatomegaly |
OMIM:230600 |
| Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Peritonitis, L... |
ORPHA:32960 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive |
ORPHA:99931 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... |
ORPHA:1655 |
| Papa Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Failure to thrive |
ORPHA:95427 |
| Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
| Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... |
ORPHA:84064 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... |
ORPHA:449395 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
| Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Hi... |
ORPHA:168569 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Abdominal mass, Anemia, Weight loss |
OMIM:256700 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97283 |
| Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia... |
ORPHA:91139 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97282 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
| Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
| Farber Disease |
|
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... |
ORPHA:333 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargemen... |
OMIM:620233 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
| Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Ascites, Lymphadenopathy, Hepatomegaly |
ORPHA:36412 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Increased circulating int... |
OMIM:256040 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase... |
ORPHA:99826 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep... |
OMIM:602782 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy |
ORPHA:142 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
| Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weight loss, D... |
ORPHA:420741 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome... |
ORPHA:14 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyto... |
ORPHA:93552 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... |
OMIM:615512 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... |
ORPHA:95409 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss |
ORPHA:764 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c... |
ORPHA:79330 |
| Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level, Lymphadenopathy, ... |
ORPHA:2136 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... |
ORPHA:97280 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... |
OMIM:261680 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
| Microsporidiosis |
|
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Peritonitis, Bili... |
ORPHA:2552 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:97287 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| Biotinidase Deficiency |
|
Splenomegaly, Hyperammonemia, Hepatomegaly |
OMIM:253260 |
| Gm1 Gangliosidosis |
|
Weight loss, Splenomegaly, Failure to thrive, Hepatosplenomegaly |
ORPHA:354 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
| Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... |
ORPHA:97261 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinoph... |
ORPHA:3260 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:3208 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97278 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Neutropenia, Hyperechogenic pancreas, Thrombo... |
OMIM:617941 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, ... |
ORPHA:731 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic... |
ORPHA:100078 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... |
OMIM:263700 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Defective production of NFKB1-dependent cytokines, Failure to thrive, Hepatomegaly |
OMIM:612132 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449563 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... |
ORPHA:79078 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Hypercalcemia, Portal hypertension, Increased T cel... |
ORPHA:797 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Hypophospha... |
OMIM:616026 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Ascites, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:36426 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Ascites, Weight loss |
ORPHA:99921 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... |
OMIM:619991 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:308552 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
| Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
| Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... |
ORPHA:228123 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Anemia, Neutropenia, Pancreati... |
ORPHA:537 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrog... |
OMIM:219800 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepat... |
ORPHA:79259 |
| Leptospirosis |
|
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Elevated serum transaminase... |
ORPHA:509 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
| Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia |
OMIM:207800 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatocell... |
OMIM:232240 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Pancreatitis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:900 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... |
ORPHA:544482 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... |
ORPHA:48435 |
| X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome... |
ORPHA:75565 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Decreased circulating antibody le... |
ORPHA:289390 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Weight loss |
ORPHA:183 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
| Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulating surf... |
ORPHA:60025 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia |
ORPHA:1328 |
| Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Hepatic failure, Weight loss |
ORPHA:397 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Weight loss |
ORPHA:361 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
ORPHA:2388 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
| Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,... |
ORPHA:98908 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Mucolipidosis Type Ii |
|
Left ventricular hypertrophy, Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Hermansky-Pudlak Syndrome |
|
Weight loss, Neutropenia |
ORPHA:79430 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis |
ORPHA:342 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Anemia, Weight loss |
ORPHA:35687 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Hepatocellular carcinoma |
ORPHA:144 |
| Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Weight loss, Cutaneous abscess |
ORPHA:31204 |
| Behçet Disease |
|
Splenomegaly, Weight loss, Pancreatitis, Lymphadenopathy |
ORPHA:117 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:29072 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Increased bod... |
ORPHA:99889 |
| Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Weight loss, Hypophosphatemia, Pancreatitis |
ORPHA:143 |
| Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thrive, Pancreatitis, ... |
OMIM:219700 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Kawasaki Disease |
|
Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis, Cholecystitis |
ORPHA:2331 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Zollinger-Ellison Syndrome |
|
Jaundice, Hypercalcemia, Extrahepatic cholestasis, Weight loss |
ORPHA:913 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Abnormalit... |
ORPHA:84 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Hyperuricemia |
ORPHA:191 |
| African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Weight loss |
ORPHA:3385 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
| Goodpasture Syndrome |
|
Weight loss, Anemia, Increased blood urea nitrogen |
OMIM:233450 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Decreased body weight |
ORPHA:800 |
| Blau Syndrome |
|
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy |
ORPHA:90340 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss |
ORPHA:99885 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Lymphangioleiomyomatosis |
|
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Ascites, Lymphadenopathy |
ORPHA:538 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Thymoma, Weight loss |
ORPHA:652 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Weight loss |
ORPHA:91347 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive |
ORPHA:90794 |
| Plague |
|
Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Hepatomegaly |
ORPHA:707 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
| Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, ... |
ORPHA:744 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
| Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
