Gene Summary

Name:
methyl-CpG binding domain protein 2
Synonyms:
MBD2a

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mbd2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Mbd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T ce... OMIM:615615
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Otitis media, ... OMIM:608971
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Panhypogammaglobulinemia, Eczematoid dermatitis, Diarrhea OMIM:269840
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Lack of T cell functio... ORPHA:277
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Lymphadenitis, Acute pancreatitis, Sple... OMIM:618935
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Hepatosplenomegaly, Increased proportion... OMIM:618982
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Splenomegaly, Decre... OMIM:240500
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Chronic diarrhea, Lymphadenopathy,... OMIM:619164
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Diabet... ORPHA:79084
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Decreased circulating antibody level... OMIM:613101
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Follicular hyperplasia, Lymphadenopathy, Decreased proportion... OMIM:619126
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Absent tonsils, Panhypogammaglobulinemia, Otitis media, Aplasia of the thymus, Lymph n... OMIM:602450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Autoimmune thr... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduced natur... OMIM:615559
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Congenital Pancreatic Cyst
Vomiting, Jaundice, Pancreatitis ORPHA:313906
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Ele... OMIM:603909
Mahvash Disease
Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased g... OMIM:619290
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucos... ORPHA:2298
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Diarrhea, S... OMIM:618963
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Absent natural killer cells, Abnormality of... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Chronic diarrhea, Bronchiectasis, Aplasia of the thymus,... OMIM:242700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus ORPHA:676
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopath... ORPHA:37748
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, D... OMIM:615122
Mody
Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pancreatic hypoplasia, Hepa... ORPHA:552
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Legionnaires Disease
Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Splenomegaly, Myocarditis, Ja... ORPHA:549
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abn... OMIM:613179
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Ebola Hemorrhagic Fever
Acute pancreatitis, Nausea, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thr... ORPHA:319218
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ova... ORPHA:100025
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Chronic diarrhea, Hepatomegaly, Pancreatitis OMIM:618805
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Necrotizing Enterocolitis
Bloody diarrhea, Leukocytosis, Peritonitis, Neutropenia, Ascites, Diarrhea, Hyperglycemia, Thromb... ORPHA:391673
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancreatitis OMIM:619386
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Pancreatitis OMIM:618230
Chylous Ascites
Ascites, Pancreatitis ORPHA:1160
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Hepatomegaly,... ORPHA:98848
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Gastrointestinal hemorrhage, Abnormality o... ORPHA:543
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Hypothyroidism, Uveitis, C... OMIM:614700
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant di... OMIM:604367
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, Chronic diarrhea, Bronchiectasis, Chronic lym... OMIM:616005
Propionic Acidemia
Pancytopenia, Hypoglycemia, Constipation, Hepatomegaly, Neutropenia, Anemia, Eczema, Pancreatitis... OMIM:606054
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Pneumonia, ... ORPHA:911
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Vomiting, Maculopapular exanthema, Endocar... ORPHA:31205
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Art... OMIM:611762
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Hepatomegaly, Insulin-re... ORPHA:79083
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Protracted diarrhea, Autoimmune hemolytic anemia, Decreased proportion of CD4-posit... ORPHA:572
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cardiomegaly, Portal hypertension, Cholangiocarcinoma, Splenomegaly, Hepatomegaly... ORPHA:465508
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis, Thrombocytopenia, Vomiting OMIM:251000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hyperhidrosis ORPHA:86893
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, ... OMIM:608184
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Hepatomegaly, Diabetes m... ORPHA:2348
Primary Lipodystrophy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Type II diabetes mellitu... ORPHA:90970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy, Increa... ORPHA:482
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Chronic diarrhea, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, H... ORPHA:65682
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis OMIM:212050
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Ovarian c... OMIM:246200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody leve... OMIM:606367
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Skin rash ORPHA:2584
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Nausea, Leukocytosis, Hypopituitarism, Hyperglycemia, Left ventricular hypertroph... ORPHA:90065
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormality of thyroid physiology, Abnormal proportion of naive CD4 ... ORPHA:1830
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Anemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Enterocolitis, Episodic... OMIM:616050
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Atopic dermatitis, Thrombocytop... OMIM:615846
Microsporidiosis
Nausea, Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis,... ORPHA:2552
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Dysphagia, Pancreatitis, Premature ovarian insufficiency, Vom... ORPHA:135
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Splenomegaly, Hepatomegaly, Anemia, ... OMIM:612840
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Immunodeficiency 32B
Sinusitis, Splenomegaly, Bronchiectasis, Pneumonia OMIM:226990
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hyperhidrosis ORPHA:98293
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Hyperlipoproteinemia, Type I
Nausea, Hepatosplenomegaly, Splenomegaly, Jaundice, Pancreatitis, Vomiting OMIM:238600
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Vomiting OMIM:230350
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Nephritis, D... ORPHA:449427
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Hepatomegaly, Erythr... ORPHA:3162
Tropical Pancreatitis
Nausea, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarc... ORPHA:103918
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Erythroder... OMIM:603554
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Hepatomegaly, Pancreatitis OMIM:615947
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Systemic Capillary Leak Syndrome
Leukocytosis, Myocarditis, Pancreatitis, Pericarditis, Diarrhea ORPHA:188
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Thrombocytosis, Hepatomegaly, Hyperglycemia, Diarrhea, Vomiting ORPHA:134
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Recurr... OMIM:102700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Caroli Syndrome
Leukocytosis, Leukopenia, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hep... ORPHA:480520
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Pancreatitis, Hepat... OMIM:600803
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Diarrhea, Vomiting OMIM:121300
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Bone marrow hypocellularity, Sple... ORPHA:47612
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulati... OMIM:617591
Thymic Aplasia
Sinusitis, T lymphocytopenia, Hypothyroidism, Pneumonia, Chronic oral candidiasis, Coombs-positiv... ORPHA:83471
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cir... ORPHA:79301
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Prostatitis, Arteritis, Membranous nephropathy, Inflammato... ORPHA:449395
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Pneumonia, Splenomega... ORPHA:39041
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Maple Syrup Urine Disease
Vomiting, Hypoglycemia, Pancreatitis OMIM:248600
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Ascites, Pancreatitis, Ulcerative c... ORPHA:171
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Sea-Blue Histiocytosis
Blepharitis, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue ... ORPHA:158029
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Parathyroid adenoma, Pancreatic adenocarcinoma, Hy... OMIM:145001
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Diabetes mellitus, Inflammatory abnormality o... ORPHA:565612
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Hypothyroidism, Arthritis, Coombs-positive hemolytic anemia, Autoimmune thro... OMIM:304790
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Allergic rhiniti... OMIM:612714
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Jaun... ORPHA:381
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Insulin-resistant diabetes mellitus, Pancrea... ORPHA:435651
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA level, Vomiting, Neutr... OMIM:260920
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Cholestasis, Anemia, Hepatitis, Postprandial hyperglycemia, Cholestatic live... ORPHA:440713
Coccidioidomycosis
Eosinophilia, Abnormality of the liver, Increased circulating IgG level, Pneumonia, Erythema nodo... ORPHA:228123
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes m... OMIM:612526
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Generalized lymphadenopath... ORPHA:829
Familial Mediterranean Fever
Erysipelas, Arthritis, Orchitis, Peritonitis, Ascites, Constipation, Splenomegaly, Osteoarthritis... ORPHA:342
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Arthritis, Increased inflammatory response, Acne, Increased circulatin... ORPHA:69126
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Portal inflammation, Pancreatitis, Hepatocellular carcinoma, Ballooning hepato... OMIM:603471
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Dysphagia, Inflammatory abnormality of t... ORPHA:3260
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice, Diab... ORPHA:444490
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Cholestasis-Lymphedema Syndrome
Erysipelas, Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Mccune-Albright Syndrome
Pancytopenia, Bone marrow hypocellularity, Cholestasis, Goiter, Gastroesophageal reflux, Hyperthy... ORPHA:562
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Lymphadenopathy, Hyperhidrosis, Skin rash ORPHA:391
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis, Skin rash OMIM:105200
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Hepatitis, Diabetes mellitus, Hematemesis, Pancreatitis, Fas... ORPHA:73263
Igg4-Related Ophthalmic Disease
Eosinophilia, Sinusitis, Abnormality of the anterior pituitary, Cholangitis, Orchitis, Increased ... ORPHA:449563
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Agammaglobulinemia, Cholangitis, Infectious encephalitis, Colitis, Protracted di... OMIM:209920
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess, Abn... ORPHA:54251
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Increased circulating IgG level, Uveitis, Increased circul... OMIM:617388
Marburg Hemorrhagic Fever
Nausea, Hypoglycemia, Uveitis, Maculopapular exanthema, Pancreatitis, Lymphopenia, Diarrhea, Thro... ORPHA:99826
Glycogen Storage Disease Ib
Enlarged kidney, Hypoglycemia, Hepatomegaly, Neutropenia, Pancreatitis, Hepatocellular carcinoma,... OMIM:232220
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Dysphagia, Type II diabetes mellitus, Pancreatitis, Type I diabete... ORPHA:412057
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia, Hyperhidrosis ORPHA:108
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Osteomyelitis, Gr... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Osteomyelitis, Gr... OMIM:233710
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Chr... OMIM:617099
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Macronodular adrenal hyperplasia, Increased circulating cortisol level OMIM:615954
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Pneumonia, Increased circulating IgA level, Absent mi... OMIM:600903
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Infectious encephalitis, Maculopapular ex... ORPHA:540
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Insuli... OMIM:151660
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Gastrointest... ORPHA:2137
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Gaucher Disease Type 2
Dysphagia, Splenomegaly, Hepatomegaly ORPHA:77260
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Diabetes mell... ORPHA:2088
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hyperinsulinemia, Decreased proportion of CD4-positive helper T cell... ORPHA:66628
Lysinuric Protein Intolerance
Nausea, Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Pancreatitis, Thrombocy... OMIM:222700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hypothyroidism, Chronic neutropenia, Anemia, Pancreatitis, U... ORPHA:79259
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Acute pancreatitis, C... OMIM:619487
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Nonketotic hypoglycemia, Leukocytosis, Thrombocytosis, Recurrent ... ORPHA:20
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Pericarditis, Anterior uveitis, Skin rash, Juvenile ... ORPHA:85414
Microscopic Polyangiitis
Sinusitis, Uveitis, Gastrointestinal hemorrhage, Arthritis, Peritonitis, Increased inflammatory r... ORPHA:727
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Osteomyelitis, Gr... OMIM:233690
Common Variable Immunodeficiency
Abnormality of the liver, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circula... ORPHA:1572
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Macrophage Activation Syndrome
Hemophagocytosis, Increased inflammatory response, Splenomegaly, Abnormal natural killer cell cou... ORPHA:158061
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Abnormality of the liver, Hepatosplenomega... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hyperinsulinemia, Decreased proportion of CD4-positive helper T cell... ORPHA:179494
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Epididymitis, Hematemesis, Ascites, Thrombocytopenia, Conjunctivitis, Diarrhea, Leu... ORPHA:99827
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Diarrhea ORPHA:75234
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Hepatomegaly, Diabetes m... ORPHA:280365
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepa... ORPHA:37042
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Diarrhea ORPHA:56425
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Bloody diarrhea, Leukocytosis, Peritonitis, Acute colitis, Pancreatitis, Reticulo... ORPHA:90038
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Insulin resistance, Elevated circulating lutei... OMIM:617253
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis, Vomiting OMIM:618892
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Wolman Disease
Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Steat... ORPHA:75233
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary t... ORPHA:1414
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Po... OMIM:278000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Dysphagia, Recurrent aspiration pneumonia OMIM:230900
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly, Arthritis OMIM:602390
Igg4-Related Submandibular Gland Disease
Sialadenitis, Eosinophilia, Abnormal salivary gland morphology, Increased circulating IgG level, ... ORPHA:449432
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Cystic Fibrosis
Exocrine pancreatic insufficiency, Ileus, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomeg... OMIM:219700
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Short Syndrome
Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Hypohidrosis, Cholestasis, Splenomegaly, Hepatomegaly, Impaired T cell function, In... OMIM:614576
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Ascites, Jaundice, Ovarian neoplasm, Anemia, Pancreatitis, Neoplasm of the pancreas ORPHA:370348
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis OMIM:618398
Hurler-Scheie Syndrome
Abnormality of the tonsils, Rhinitis, Splenomegaly, Hepatomegaly ORPHA:93476
Cinca Syndrome
Leukocytosis, Uveitis, Inflammatory abnormality of the eye, Splenomegaly, Hepatomegaly, Abnormali... ORPHA:1451
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:79086
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Chronic decreased circulating... OMIM:300972
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia, Type I diabetes mellitus, Skin rash ORPHA:290
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Lysinuric Protein Intolerance
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Glomerulonephritis, Tubulointerstitial nephriti... ORPHA:470
Behçet Disease
Optic neuritis, Myositis, Gastrointestinal hemorrhage, Arthritis, Orchitis, Infectious encephalit... ORPHA:117
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Recurrent otitis media, Hepatosplenomegaly, Reduced na... OMIM:608233
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Anemia, Lymphopenia, Skin rash, Leuk... OMIM:615688
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis OMIM:228000
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Gastroi... ORPHA:64743
Glycogen Storage Disease Ia
Enlarged kidney, Hypoglycemia, Intermittent diarrhea, Hepatomegaly, Pancreatitis, Hepatocellular ... OMIM:232200
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h... OMIM:210250
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Infection-Related Hemolytic Uremic Syndrome
Nausea, Bloody diarrhea, Leukocytosis, Pneumonia, Myocarditis, Acute colitis, Diarrhea, Hemolytic... ORPHA:544482
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia, Vomiting ORPHA:79134
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatomegaly, Eczema, Ly... OMIM:616651
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Nausea, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic mye... ORPHA:98849
Prolidase Deficiency
Recurrent pneumonia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Ec... OMIM:170100
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrho... OMIM:613812
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Mixed Connective Tissue Disease
Myositis, Leukopenia, Gastrointestinal hemorrhage, Gastritis, Gastroesophageal reflux, Splenomega... ORPHA:809
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Panniculitis, Lymphadenopathy OMIM:619183
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatoce... OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Splenomegaly, Hepatomegaly, Abnormality of neutro... ORPHA:379
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Acne, Osteomyelitis, Syn... ORPHA:77297
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Ascites, Splenomegaly, Hepatomegaly, Osteomye... OMIM:306400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Osteoarthritis, Hepatomegaly, ... ORPHA:77259
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Melioidosis
Pneumonia, Lung abscess, Cutaneous abscess, Parotitis, Prostatitis, Osteoarthritis, Foot osteomye... ORPHA:31202
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Diarrh... ORPHA:247585
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Parathyroid adenoma, Pancreatitis OMIM:145980
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Maculopapular exanthema, Splenomegaly, Hepatomegaly, Neut... ORPHA:398124
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly OMIM:256550
Niemann-Pick Disease, Type A
Microcytic anemia, Constipation, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged ne... OMIM:257200
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Dysphagia, Vomiting ORPHA:26791
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Mirizzi Syndrome
Cholelithiasis, Nausea, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of... ORPHA:521219
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ... OMIM:194380
Brucellosis
Nausea, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thro... ORPHA:1304
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Hyperglycemia, R... ORPHA:99885
Typhoid
Gastrointestinal hemorrhage, Constipation, Infectious encephalitis, Splenomegaly, Hepatomegaly, D... ORPHA:99745
American Trypanosomiasis
Achalasia, Infectious encephalitis, Splenomegaly, Myocarditis, Hepatomegaly, Lymphadenopathy, Dia... ORPHA:3386
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Hepatomegaly, Chronic otitis media, Lymphadenopathy, Hemolytic anemia, T... ORPHA:169090
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Splenomegaly, Hepatomegal... OMIM:214500
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Testicular atrophy, Diabetes mellitus, Ascites, Cirrhos... OMIM:235200
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Diarrhea, Reduced nat... OMIM:619381
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Chronic diarrhea, Splenomegaly, Hepatomegaly OMIM:613489
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of neutrophils, Anemia, Dysphagia, Pancreatitis, Diarrhe... ORPHA:36426
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Scrub Typhus
Infectious encephalitis, Splenomegaly, Myocarditis, Lymphadenopathy, Anterior uveitis, Hyperhidro... ORPHA:83317
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased ... OMIM:617718
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Prolo... OMIM:300908
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypothyroidism, Portal hypertension, Hashimoto thyroiditis, Gastroesophageal reflux... OMIM:613385
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Pneumonia, Infectious encephalitis, Maculopapular e... ORPHA:781
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly, Macrocytic anemia OMIM:619046
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Gout ORPHA:412
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Splenomegaly, Hepato... OMIM:608594
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Impaired T cell function, Diarrhea, Decreased testicular size OMIM:201100
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Splenomegaly, Hepat... ORPHA:131
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Leukocytosis, Uveitis, Arthritis, Orchitis, Peritonitis, Constipation, Vomi... ORPHA:32960
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Nausea, Leukocytosis, Portal hypertension, Cholestasis, Cholan... ORPHA:53035
Muckle-Wells Syndrome
Uveitis, Arthritis, Splenomegaly, Hepatomegaly, Episcleritis, Recurrent aphthous stomatitis, Anem... ORPHA:575
Yellow Fever
Acute pancreatitis, Nausea, Leukocytosis, Increased circulating IgM level, Vomiting, Neutrophilia... ORPHA:99829
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea OMIM:235555
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Cutaneous abscess, Colitis, Decreased circulati... OMIM:618131
Granulomatosis With Polyangiitis
Sinusitis, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Increased inflammato... ORPHA:900
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Diabetes mellitus, Anisopoik... ORPHA:231214
Sarcoidosis, Susceptibility To, 2
Uveitis, Erythema nodosum, Splenomegaly, Hepatomegaly, Bronchiectasis, Mediastinal lymphadenopathy OMIM:612387
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegal... ORPHA:91138
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Splenomegaly, Hepato... OMIM:269700
Melas
Hypothyroidism, Recurrent pancreatitis, Constipation, Anemia, Hypoparathyroidism, Diabetes mellit... ORPHA:550
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Acholic sto... OMIM:607765
Whipple Disease
Hypothyroidism, Myositis, Uveitis, Insulin resistance, Gastrointestinal hemorrhage, Infectious en... ORPHA:3452
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Increased mean corpuscular hemoglobin concentration, Spl... ORPHA:822
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Neutropenia, Anemia, Dysphagia, Pancreatitis, Thrombocytopenia, Conj... ORPHA:537
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Nausea, Fasting hypoglycemia, Polycystic ovaries, Recurrent hypoglycemia, V... ORPHA:79240
Juvenile Idiopathic Arthritis
Uveitis, Splenomegaly, Hepatomegaly, Psoriasiform dermatitis, Mediastinal lymphadenopathy, Arthri... ORPHA:92
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic fibrosis, Impaired glucose ... OMIM:615630
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Hypocomplementemic Urticarial Vasculitis
Uveitis, Arthritis, Inflammatory abnormality of the eye, Splenomegaly, Hepatomegaly, Episcleritis... ORPHA:36412
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Abnormal inflam... ORPHA:158048
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Hep... OMIM:249100
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Goiter, Graves disease, Spleno... ORPHA:525731
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Nausea, Cholestasis, Polycystic ovaries, V... ORPHA:264580
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Vomiting, Myocarditis, Hyperglycemia, Diarrhea, Hyperhidrosis ORPHA:466677
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Vomiting ORPHA:3008
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Hepatomegaly, Osteomyelitis, Pustule, Stomatitis, Abscess, Skin rash OMIM:612852
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Abnormality of the thymus, Decrease... OMIM:242840
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Sclerosing cholangitis, Euthyroid goiter, Has... ORPHA:64744
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormal salivary gland morphology, Uveitis, Abnormality of T cell physiology, Enla... OMIM:181000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Bloody diarrhea, Leukocytosis, Increased circula... OMIM:618213
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Polycystic ovaries, Vomiting, Splenomegaly,... ORPHA:370
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Increased circulat... OMIM:617303
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Visceral Myopathy 1
Constipation, Dysphagia, Pancreatitis, Gastroparesis, Diarrhea, Vomiting OMIM:155310
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia, Recurrent bacterial skin infections... ORPHA:90186
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Constipation, Decreased circulati... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Infectious encephalitis, Splenomegaly, Hepatomegaly, Jaundice, Anem... OMIM:267700
Mastocytosis
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Acute le... ORPHA:98292
Nodular Non-Suppurative Panniculitis
Panniculitis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye ORPHA:33577
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Essential Thrombocythemia
Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Dysphagia, Sea-b... OMIM:257220
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:1133
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Dysphagia, Sea-b... OMIM:607625
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Diarrhea, Splenomegaly, Hepatomegaly OMIM:252920
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Leukemia, Normocytic anemia, Gastrointestinal hemorrhage... ORPHA:33226
Syndromic Diarrhea
Intractable diarrhea, Hypothyroidism, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Bloody... ORPHA:84064
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Hyperparathyroidism-Jaw Tumor Syndrome
Constipation, Testicular neoplasm, Primary hyperparathyroidism, Parathyroid adenoma, Dysphagia, P... ORPHA:99880
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly,