Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

mitochondrial tumor suppressor 1
MD44,  Atip1,  MTSG1,  B430305I03Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Mtus1 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 Mtus1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ... OMIM:304790
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... ORPHA:99931
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Autoimm... OMIM:614470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ... ORPHA:99867
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, F... ORPHA:79312
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... ORPHA:567544
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Rheumatoid factor positive, Uveitis, Colitis, Thyroid carcinoma, Lymphocyto... ORPHA:3261
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ... OMIM:603909
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Leukopenia, Cardiomyopath... ORPHA:27
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... ORPHA:289916
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Systemic Lupus Erythematosus 17
Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst... OMIM:301080
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Chronic diarrhea, Dilated cardiomy... OMIM:618805
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... OMIM:603552
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... ORPHA:37042
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... ORPHA:98826
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... ORPHA:2137
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... ORPHA:229717
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... OMIM:616744
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophage... ORPHA:443811
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... ORPHA:1830
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti... OMIM:251000
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, ... OMIM:606054
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, An... ORPHA:858
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth... OMIM:616871
Congenital Atransferrinemia
Abnormality of the pancreas, Hypothyroidism, Anemia, Arthritis ORPHA:1195
Cernunnos-Xlf Deficiency
Autoimmunity, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnorm... ORPHA:1304
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu... ORPHA:47612
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia OMIM:607616
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Anemia, Lymphadenopathy, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Oliguria, Weight loss, Mu... ORPHA:188
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Conjunctivitis, Neutro... OMIM:616740
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Vomiting, Lupus anticoagulant, Nephritis, Pericardial effusion, Lymphadenop... ORPHA:93552
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia, Decreased body weight OMIM:613606
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Gray Platelet Syndrome
Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ... ORPHA:536
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Antinuclear antibody p... OMIM:618048
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Antinuclear antibody positivity, Autoimmune antibody positivi... ORPHA:231111
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Splenomegaly, Thrombocytopenia, Secretory diarrhea, E... OMIM:616050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Diarrhea, Leukopenia, Neutropenia, Failure to thrive, Thr... OMIM:229050
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Aut... ORPHA:275555
Rhabdoid Tumor
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Neoplasm of the liver, Anemi... ORPHA:69077
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Rheumatoid factor ... OMIM:615816
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... OMIM:618495
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Weigh... ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Hyperhidrosis, Leuko... ORPHA:108
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... ORPHA:100024
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hemangiomatosis, Renal hypoplasia/aplasia, Visceral angiomatos... ORPHA:2123
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:301078
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Disproportionate tall stature, Chronic kidney disease, Glomerulonephritis ORPHA:2172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Atopic dermatit... OMIM:618624
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ... OMIM:619151
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Autoimmunity, Splenomegaly, Thrombocytopenia, Abno... ORPHA:158061
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Mediastina... ORPHA:3392
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti... ORPHA:90060
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis... ORPHA:514
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Maculopapular exanthema, Skin rash, Aplastic anemia... ORPHA:398124
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Bone Marrow Failure Syndrome 4
Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... ORPHA:98850
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... ORPHA:36234
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... OMIM:301082
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosi... ORPHA:39041
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:470
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, ... OMIM:619487
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Transaldolase Deficiency
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Cirrh... ORPHA:101028
Atelis Syndrome 1
Ventricular septal defect, Eczema, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal de... OMIM:620184
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo... ORPHA:47
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... ORPHA:400
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemi... ORPHA:331206
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, Absence of lymp... ORPHA:277
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... OMIM:601859
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria... ORPHA:251004
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Oroticaciduria, Stage 5 chronic k... OMIM:222700
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Diarrhea, He... ORPHA:549
Non-Involuting Congenital Hemangioma
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... ORPHA:141179
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Diarrhea, Hematuria, Microangiopathic hemolyti... ORPHA:54057
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... OMIM:249270
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Cardiomyopathy, Failure to thrive, Thrombocytopenia ORPHA:67048
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... ORPHA:318
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Renal insufficiency, Anemia ORPHA:655
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Neutr... OMIM:617475
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste... OMIM:608709
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... OMIM:620321
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... ORPHA:98849
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocyto... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Hepatomegaly, Failure to thrive, Thrombocytopenia OMIM:614727
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hepatitis, Increased body weight, Weight ... ORPHA:905
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath... ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hypertrophic cardiomyo... OMIM:619386
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Hypereosinophili... OMIM:615387
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Jaundice, Spinal cord tumor, Ovarian neoplasm, Weight l... ORPHA:370348
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Rapidly Involuting Congenital Hemangioma
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... ORPHA:141184
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Prolidase Deficiency
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia... OMIM:170100
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Protracted diarrhea, Panniculiti... OMIM:615758
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Tufted Angioma
Thrombocytopenia, Hyperhidrosis, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hema... ORPHA:1063
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... OMIM:618348
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... OMIM:614172
Cardiomegaly OMIM:227150
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Leukoc... ORPHA:3260
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Bronchiectasis, Lymphadenopathy, A... ORPHA:397596
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Ventricular septal defect, Splenomegaly, Jaundice, Thrombocytopenia, Atr... ORPHA:290
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, ... ORPHA:98827
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,... OMIM:155100
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis, Anemia OMIM:617408
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Diarrhea, B... ORPHA:90038
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Thrombocytopenia, ... OMIM:617591
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Abnormal heart valve morphology, Abnormality of the kidney,... ORPHA:464343
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Diarrhea, Weight loss, Leukopenia, Chronic otitis media, F... ORPHA:33355
Cach Syndrome
Renal hypoplasia, Hepatosplenomegaly, Vomiting, Optic neuritis, Dysphagia, Pancreatitis ORPHA:135
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Vomiting... ORPHA:340
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Hypohidrosis, Thrombocytopenia OMIM:612783
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... OMIM:260400
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculit... OMIM:618398
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Recur... OMIM:617718
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... ORPHA:83469
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Vomiting, Abnormality... ORPHA:2552
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Small for gestational age, Hepatic melanin-like ... OMIM:208085
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormalit... ORPHA:36426
Cholesteryl Ester Storage Disease
Hepatomegaly, Failure to thrive, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Sple... OMIM:278000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Diarrhea, Atrial septal defect, Thrombocytopenia ORPHA:49827
Pelger-Huet Anomaly
Ventricular septal defect, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuc... OMIM:169400
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte... OMIM:612840
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Alpha-Thalassemia Myelodysplasia Syndrome
Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia... ORPHA:77297
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, I... OMIM:616433
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... ORPHA:169105
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh... ORPHA:139402
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... ORPHA:2686
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Leukopenia, Vomiting, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Chylous Ascites
Neoplasm, Pancreatitis ORPHA:1160
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, ... OMIM:240500
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Relapsing Fever
Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Diarrhea, Hematuria, Leukopenia, Abnormal... ORPHA:91547
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia,... ORPHA:537
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Stuve-Wiedemann Syndrome 2
Eczema, Thrombocytopenia, Dysphagia OMIM:619751
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... OMIM:614520
Hemangioma-Thrombocytopenia Syndrome
Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Overlap Myositis
Abnormality of the kidney, Autoimmunity, Antinuclear antibody positivity, Abnormal heart morpholo... ORPHA:206572
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Failure to thrive, Anemia ORPHA:28
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Dysp... OMIM:222300
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia ORPHA:100025
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Idiopathic Aplastic Anemia
Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular... ORPHA:88
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... OMIM:246400
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A... OMIM:607115
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... OMIM:606003
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia ORPHA:375
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Leukocytosis, Diarrhea, Lipid accumulation... ORPHA:20
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Failure to ... OMIM:269920
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Barrett esophagus, A... ORPHA:90291
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Chronic constipation, Nephrotic syndrome, Glomerula... OMIM:619428
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Functional abnormality of the bladder, T lymphocytopenia, ... ORPHA:391487
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancr... ORPHA:2348
Boutonneuse Fever
Renal insufficiency, Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenopathy, Lymp... ORPHA:83313
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Gastroesophageal reflux, Neutropenia... OMIM:614857
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... OMIM:601399
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Failure to thrive in infancy, Fluctuating hepatomegaly,... OMIM:610377
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Throm... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Diarrhea, Cholestasis, Perimembranous ventricular... OMIM:608104
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Diarrhea, C... ORPHA:90045
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... OMIM:603903
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Diarrhea, Lym... ORPHA:56425
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... OMIM:619281
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Thyrotoxicosis with diffuse go... ORPHA:525731
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo... ORPHA:69663
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Lymphadenopathy... ORPHA:520
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Intermediate Osteopetrosis
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly ORPHA:210110
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Myocardial fibrosis, Hepatospleno... ORPHA:210136
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr... ORPHA:79259
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation OMIM:614171
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocyto... ORPHA:77259
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Atrial septal defect, Skin rash, Dextrocardia, Small for gestational ... OMIM:277380
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... OMIM:619693
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Failure to thrive, Skin rash, Rheumatoid factor positive, Antiphospholipid... OMIM:615934
Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiting, Nausea, Acute colitis, Absce... ORPHA:810
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Vomit... OMIM:557000
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Central hypothyroidism, Iron... ORPHA:1667
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H... OMIM:612541
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Mitral ... OMIM:612561
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:600901
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Neutr... ORPHA:540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Hemochromatosis, Type 3
Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Myelodysplasia, Cryptorchidism, Thrombocytopenia... OMIM:617053
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, C... OMIM:614576
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Pneumonia, Nausea, Myocarditis, Leukocytosis, Thrombocyt... ORPHA:544482
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:227650
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Hyperphosphaturia... ORPHA:562
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... ORPHA:51208
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Failure to thrive, Absence of lymph node germinal center, Splenom... OMIM:308230
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... ORPHA:54251
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M... OMIM:231200
Castleman Disease
Intestinal obstruction, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia,... ORPHA:160
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia OMIM:612952
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of... OMIM:620365
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Cryptorchidism,... OMIM:606593
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc... ORPHA:171
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Lymphadenopathy, ... ORPHA:79456
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni... OMIM:603467
Hereditary Chronic Pancreatitis
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... OMIM:617056
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Enlarged kidney, ... OMIM:617303
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis OMIM:620137
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... OMIM:619113
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Vomiting, Neutropenia, Fai... OMIM:251110
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic ... OMIM:616005
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Poikilocytosis, Eleva... OMIM:615234
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 r... ORPHA:572
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to... OMIM:263400
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Abnormal heart m... ORPHA:391673
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria, Mitral valve prolapse, Disproportionate tall stature, Failure to t... OMIM:236200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Intermittent diarrhea, Thrombocytopenia ORPHA:263501
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis ORPHA:79083
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... ORPHA:900
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Chronic diarrhea, Dilated cardiomyopathy, Leuk... OMIM:613989
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Aortic valve s... OMIM:230800
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def... OMIM:619525
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Nephritis, Naus... ORPHA:73263
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukop... ORPHA:508542
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Insulin-Resistance Syndrome Type B
Osteoarthritis, Increased body weight, Leukopenia, Nephritis, Enlarged ovaries, Enlarged polycyst... ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Hepatosplenomega... OMIM:603553
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Overweight, Recurrent pneumonia, Persistence of hemoglobin F, Gastroes... OMIM:619769
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... OMIM:300908
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect OMIM:223350
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthri... ORPHA:342
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia OMIM:615597
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Weight loss, Arthritis, Inflammation of... OMIM:301074
Lesch-Nyhan Syndrome
Anemia, Renal insufficiency, Hematuria, Gout ORPHA:510
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, ... ORPHA:90051
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi... OMIM:617052
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Dilated c... ORPHA:79408
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl... OMIM:614742
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pne... OMIM:127550
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, ... ORPHA:90033
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial septal defect, Adenocar... ORPHA:124
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Anti-thyroid peroxidase a... OMIM:274300
Eosinophilic Gastroenteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Diarrhea, Atopic dermatitis, Dysphagia, Weight los... ORPHA:2070
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Small for gestational age,... OMIM:227645
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... OMIM:251100
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... ORPHA:85450
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Abnorma... ORPHA:565612
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Steatorrhea,... ORPHA:75233
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Holocarboxylase Synthetase Deficiency
Eczema, Weight loss, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Diffuse leiomyomatosis, Renal insufficiency, Glomerular basement membrane lam... OMIM:301050
Hypoparathyroidism, Proteinuria, Diarrhea, Dilated cardiomyopathy, Concentric hypertrophic cardio... ORPHA:550
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Failure to thrive, ... ORPHA:3322
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Diarrhea, Leukopenia, Thrombocytopenia ORPHA:99828
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Platelet Disorder, Undefined
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm OMIM:173420
Sengers Syndrome
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia OMIM:212350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand... ORPHA:275
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Increased T cell co... ORPHA:98813
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Nephrotic syndrome, Conj... ORPHA:575
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Alport Syndrome 3A, Autosomal Dominant