Not currently registered for phenotyping at IMPC

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

Gene Summary

nuclear factor, erythroid derived 2
NF-E2,  p45,  p45NFE2,  p45nf-e2

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 Nfe2 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 Nfe2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... ORPHA:231393
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Abnormal bleeding, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Thrombocytopenic Purpura, Autoimmune
Abnormal bleeding, Thrombocytopenia OMIM:188030
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, B-cell lymphoma, Persistent EBV ... OMIM:619437
Immunodeficiency 21
Abnormal natural killer cell morphology, Myelodysplasia, Neutropenia, Lymphopenia, Myeloid leukem... OMIM:614172
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Lymphoma, Acute myeloid leukemia OMIM:616871
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor OMIM:615234
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Increased mean corpuscular volume, Neutropenia, Anemia, Acute myeloid leukemia, P... OMIM:619041
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... OMIM:187800
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Leukemia, Myeloid leukemia, Aplastic anemia, Pancytopenia OMIM:614743
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Hypertrophic cardiomyopathy, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
N Syndrome
Leukemia, Neoplasm OMIM:310465
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia ORPHA:98827
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenomegaly, Autoimm... OMIM:614470
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Pallo... OMIM:615631
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... OMIM:173470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... OMIM:601399
Primary Erythromelalgia
Leukemia ORPHA:90026
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Spontaneous hematomas, Abnormal bleeding, Macrothrombocytopenia OMIM:616176
Lymphedema, Primary, With Myelodysplasia
Leukemia, Myelodysplasia, Pancytopenia OMIM:614038
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Evans Syndrome
Syncope, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune t... ORPHA:1959
Chronic Myeloid Leukemia
Leukocytosis, Abnormal basophil morphology, Thrombocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Multiple lineage myelodysplasia, E... ORPHA:86841
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhage, Anemia, Melena, Ani... ORPHA:98870
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Recurrent opportunistic infections, Lymphadenopathy, Failure to thrive secondary to... OMIM:608971
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Lymphoma, Hepatosplenomeg... OMIM:619126
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Abnormal bleeding, Increased ci... ORPHA:507
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, Th... ORPHA:49827
Osteopetrosis, Autosomal Recessive 4
Petechiae, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytop... OMIM:611490
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Epistaxis, Leukocyte inclusion bodies, Myocardial infar... OMIM:155100
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Petechiae, Anemia, Splenomegaly, A... ORPHA:824
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor ORPHA:163596
Immunodeficiency 48
Hepatomegaly, Recurrent candida infections, Splenomegaly OMIM:269840
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Osteopenia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Gray Platelet Syndrome
Abnormality of thrombocytes, Epistaxis, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Bruisi... ORPHA:721
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Mantle Cell Lymphoma
Lymphadenopathy, B-cell lymphoma, Splenomegaly ORPHA:52416
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, I... OMIM:619271
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Pallor, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolyti... OMIM:611590
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Persistent ble... OMIM:300367
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Myelofibrosis, Epistaxis, Absence of alpha granules, Gastrointestinal hemo... OMIM:187900
Lymphoproliferative Syndrome 2
Hepatomegaly, Sepsis, Severe varicella zoster infection, Hodgkin lymphoma, Ascites, Lymphoprolife... OMIM:615122
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Pallor OMIM:613839
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Pulmona... ORPHA:231222
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:613554
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Anemia, Bone marrow hypocellularity, Retic... ORPHA:88
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, M... OMIM:139090
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Bone marrow hypocellularity, Splenomegaly,... ORPHA:3226
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, ... ORPHA:86839
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia OMIM:605724
Autoimmune Hemolytic Anemia
Hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte ... ORPHA:98375
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Dry skin, ... OMIM:618116
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... OMIM:277480
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Erythema, Anemia, Osteolysis ORPHA:158014
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Recurrent pneumonia, Lymphopen... OMIM:619164
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Specific Granule Deficiency 2
Death in infancy, Neutropenia, Absent neutrophil specific granules, Anemia, Osteopenia, Death in ... OMIM:617475
Myeloproliferative disorder, Splenomegaly OMIM:254450
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Death in infancy, Anemia OMIM:619302
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Hepatomegaly, Recurrent bronchitis, Lymphadenopathy, Recurrent ot... OMIM:240500
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Death in childhood OMIM:610329
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... OMIM:259710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Osteoporosis ORPHA:2786
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Retinitis Pigmentosa 42
Pallor OMIM:612943
Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma OMIM:180200
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... ORPHA:238459
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Elliptocytosis 1
Pallor, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, R... OMIM:617514
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Osteoporosis, Joint laxity OMIM:614727
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... ORPHA:98850
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia, Monocytosis, Leukemia, Hemangioma, Acu... ORPHA:486
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis ORPHA:66661
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon ORPHA:401945
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Fetal Gaucher Disease
Abnormality of the spleen, Intracranial hemorrhage, Death in infancy, Neonatal death, Stillbirth,... ORPHA:85212
Thrombocytopenia, Anemia ORPHA:673
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Autoimmune hemolytic anemia ORPHA:90037
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Spontaneous, recurrent epistaxis, Abnormal bleeding, Thrombocytopenia OMIM:616937
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Prolonged bleeding time, Gi... OMIM:153640
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Petechiae, Osteopetrosis, Epistaxis, Anemia, Splenomegaly, Hepatosplenomegaly, Extr... OMIM:612840
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Retinitis Pigmentosa 60
Pallor OMIM:613983
Immunodeficiency 32B
Recurrent respiratory infections, Recurrent infections, Splenomegaly OMIM:226990
Retinitis Pigmentosa 81
Pallor OMIM:617871
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ... ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding OMIM:314000
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolyti... OMIM:616576
Aicardi-Goutieres Syndrome 5
Dry skin, Thrombocytopenia, Scaling skin, Flexion contracture OMIM:612952
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia... OMIM:613673
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Hereditary Spherocytosis
Restrictive cardiomyopathy, Anemia, Gout, Splenomegaly, Pallor, Extramedullary hematopoiesis, Inc... ORPHA:822
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Hypertension, Arrhythmia, Sideroblastic anemia OMIM:617021
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Immunodeficiency 36
Chronic lymphatic leukemia, B-cell lymphoma, Lymphopenia, Splenomegaly OMIM:616005
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Death in infancy OMIM:619301
Anemia ORPHA:655
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Death in infancy, Anemia OMIM:614946
Acquired Ichthyosis
Sarcoma, Multiple myeloma, Lymphoma, Neoplasm ORPHA:454
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Osteoporosis, Persistence of hemoglobin F,... ORPHA:231226
Amed Syndrome, Digenic
Myelodysplasia, Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Primary Familial Polycythemia
Polycythemia, Abnormal bleeding, Epistaxis, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Hypochromic microcytic anemia, Osteoporosis, Splenom... ORPHA:231214
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Recurrent infections, Splenomegaly OMIM:616452
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Neutropenia, Anemia, Congenital thrombocytopenia, Thromb... OMIM:616738
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Arthritis, Thrombo... ORPHA:229717
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Optic Atrophy 9
Pallor OMIM:616289
Leukopenia, Splenomegaly, Myocardial infarction, Congestive heart failure, Limitation of joint mo... ORPHA:108
Transaldolase Deficiency
Telangiectasia, Anemia, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Extramedullary hemat... OMIM:259720
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Tufted Angioma
Thrombocytopenia, Anemia, Purpura, Petechiae ORPHA:1063
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Death in childhood OMIM:615597
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor OMIM:246400
Acute Promyelocytic Leukemia
Ecchymosis, Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Petechiae, Epistaxis, Anemi... ORPHA:520
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Arrh... ORPHA:54057
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Vasculitis, Increased circulating IgM level, Incre... ORPHA:37748
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic leukemia, R... ORPHA:906
Cold Agglutinin Disease
Pallor, Hemolytic anemia, Splenomegaly ORPHA:56425
Gaucher Disease Type 1
Gingival bleeding, Leukopenia, Pulmonary arterial hypertension, Anemia, Splenomegaly, Osteopenia,... ORPHA:77259
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Chondrosarcoma, Neoplasm, Anemia, Sarcoma, Multi... ORPHA:296
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Neoplasm of the adrenal cortex,... ORPHA:163634
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemolysis, Increased... OMIM:194380
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 69
Thrombocytosis, Leukocytosis, BCGosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Lymphoma, Splenomega... ORPHA:545
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myelodysplasia, Pancytopenia, Anemia, Myeloid leukemia, Aplastic anemia OMIM:614742
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, Autoimmune thrombocytopenia, Rh... ORPHA:100026
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Synovitis, Limb joint contracture, Sub... ORPHA:169802
Rhabdoid Tumor
Thrombocytopenia, Hypertension, Anemia, Internal hemorrhage ORPHA:69077
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, ... ORPHA:274
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, Pathologic fract... OMIM:259700
Felty Syndrome
Neutropenia, Pericarditis, Synovitis, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocel... ORPHA:47612
Essential Thrombocythemia
Abnormal platelet morphology, Myelodysplasia, Acute leukemia, Splenomegaly ORPHA:3318
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia ORPHA:86843
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Spontaneous, recurrent ... ORPHA:182050
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Autoimmu... ORPHA:90033
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Anemia, Synostosi... ORPHA:337
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Recurrent respiratory infections, Sea-blue hi... OMIM:607616
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Erythema, Epistaxis, Tachycardia, Cerebra... ORPHA:449285
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Pyoderma gangrenosum, Prolonged prothrombin time... ORPHA:49566
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... OMIM:607594
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Autoimmune hemolytic anemia ORPHA:90036
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent infections, Recur... OMIM:618534
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Subc... OMIM:603585
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Systemic Lupus Erythematosus
Pericarditis, Leukopenia, Arthritis, Thrombocytopenia, Hemolytic anemia OMIM:152700
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... ORPHA:99867
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy ORPHA:67048
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Stormorken-Sjaastad-Langslet Syndrome
Abnormality of thrombocytes, Anemia, Purpura, Asplenia ORPHA:3204
Aicardi-Goutieres Syndrome 4
Splenomegaly, Hepatosplenomegaly, Death in childhood, Pancytopenia, Thrombocytopenia OMIM:610333
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Leukopenia, Epistaxis, Gastrointestinal hemorr... ORPHA:99828
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage OMIM:243500
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Pallor, Heart murmur ORPHA:99931
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypertension, Neutropenia, Abnormal immunoglobulin level, Anemia, Cer... OMIM:242900
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Decreased ... OMIM:619375
Optic Atrophy 1
Pallor OMIM:165500
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Death in childhood OMIM:246450
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Osteoporosis, Bone marrow hypocellularity, Pancytopenia, Thro... OMIM:613989
Waldenström Macroglobulinemia
Normocytic anemia, Gingival bleeding, Leukemia, Monoclonal immunoglobulin M proteinemia, Epistaxi... ORPHA:33226
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertension, Splenomeg... OMIM:230800
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Camptodactyly, Anemia, Osteopenia OMIM:611209
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia ORPHA:281090
Propionic Acidemia
Neutropenia, Osteoporosis, Anemia, Cardiomyopathy, Pancytopenia, Thrombocytopenia, Cerebellar hem... OMIM:606054
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Ecchymosis, Menorrhagia, Increased mean platelet volume, Gingival bleeding, Petechiae, Stomatocyt... OMIM:153670
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Hip contracture, Retin... ORPHA:464321
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Tachycardia, Neutrophili... ORPHA:91547
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Thrombocytopenia ORPHA:27
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemia, Anemic pallor, Hematochezia ORPHA:329971
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia,... OMIM:249270
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Thrombocytopenia, Hypertension, Elevated systolic blood pressure, Elevated diastolic blood pressure ORPHA:275555
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia ORPHA:79312
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Death in infancy, Anemia, Congenital thrombocyto... OMIM:618886
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Petechiae, Anemia, Tachycardia, Bradycardia, Splenomegaly, Purpura, Ab... ORPHA:90051
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Death in c... OMIM:619644
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Fractures of the long bones, Epistax... ORPHA:464329
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Calvarial hyperostosis, Facial hyperostosis OMIM:176920
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Vasculitis, Splenomegaly OMIM:615846
Stormorken Syndrome
Asplenia, Epistaxis, Anemia, Howell-Jolly bodies, Abnormal bleeding, Thrombocytopenia OMIM:185070
Retinitis Pigmentosa 70
Pallor OMIM:615922
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Petechiae, Epistaxis, Splenomegaly, Thrombocytopenia, Portal hypertension OMIM:619463
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Catastrophic Antiphospholipid Syndrome
Myocarditis, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Pulmonary arter... ORPHA:464343
Thrombocytopenia 1
Petechiae, Decreased mean platelet volume, Increased circulating IgA level, Joint hemorrhage, Epi... OMIM:313900
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... OMIM:613011
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Hepatomegaly, Sepsis, Lymphadenopathy, Recurrent fungal infection... ORPHA:169090
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Anemia, Osteopenia, Splenomegaly OMIM:618107
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Retinoblastoma... ORPHA:790
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Chronic oral candidiasis... OMIM:150550
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Ankle flexion contracture, Shoulder flexion contra... ORPHA:536516
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Co... OMIM:605432
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:617443
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Prolonged QTc interval, Anemia, Thrombocytopenia ORPHA:231111
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Neoplasm, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Hemochromatosis, Type 3
Neutropenia, Anemia, Cardiomyopathy, Arthritis, Purpura, Lymphopenia OMIM:604250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Brain abscess, Leukocytosis, Anemia, Tachycardia, Increased circulating antibody level, Thrombocy... ORPHA:3392
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly ORPHA:100025
X-Linked Agammaglobulinemia
Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Anemia, Arthritis, Osteom... ORPHA:47
Retinitis Pigmentosa 27
Pallor OMIM:613750
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Anemia, Abnormality of neutrophils, Skin ulcer ORPHA:33355
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Anemia ORPHA:2668
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Omenn Syndrome
Recurrent bacterial infections, Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Recurrent funga... OMIM:603554
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia, Pallor ORPHA:276556
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Lymphadenopathy, Recurrent viral infections, Splenome... OMIM:609981
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections, Splen... OMIM:614699
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Pulmonary arterial hypertension, Neutropenia OMIM:614857
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Arthritis, Increased circulating IgE level... OMIM:304790
Prolidase Deficiency
Diffuse telangiectasia, Petechiae, Anemia, Splenomegaly, Increased circulating antibody level, Th... OMIM:170100
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis, Petechiae OMIM:273900
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Acute leukemia, Chronic leukemia, Splenomegaly, Sarcoma, Mastocytosis ORPHA:98292
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Recurrent infections, Splenomegaly, Pancytopenia, Recurrent respiratory ... OMIM:300635
Dyskeratosis Congenita, Autosomal Dominant 3
Dry skin, Leukopenia, Osteoporosis, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, ... OMIM:613990
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia, Pallor ORPHA:276575
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis ORPHA:42642
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Intracranial hemorrhage, Myelofibrosis, Ane... ORPHA:3260
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233710
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia, Pallor ORPHA:276580
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Anemia, Increased circulating IgG level, ... OMIM:209950
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia OMIM:603278
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia, Camptodactyly OMIM:608104
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Neutropenia, Petechiae, Reduced natural killer cell activity, Decreased circulating a... ORPHA:540
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... ORPHA:99147
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Leukopenia, Anemia, Cardiomyopathy, Abnormal macrophage m... ORPHA:292
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma ORPHA:626
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:94080
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Splenomegaly, Congestive heart failure, Pallor, Arrhythmia ORPHA:3386
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Retinitis Pigmentosa 73
Pallor OMIM:616544
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... OMIM:612541
Fanconi Anemia, Complementation Group C
Neutropenia, Anemic pallor, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Fle... OMIM:227645
Gaucher Disease Type 2
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Hepatoportal Sclerosis
Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Hypersplenism, Gastrointestinal hem... ORPHA:64743
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, ... OMIM:600901
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Syncope, Pallor, Tachycardia ORPHA:324575
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233690
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia, Splenomegaly, Osteopenia, Calvarial hyperostosis, Anemia of inadequate production OMIM:612714
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... ORPHA:53
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Petechiae, Melena, Decreased circulat... OMIM:301000
Boutonneuse Fever
Petechiae, Leukopenia, Increased circulating IgG level, Vasculitis, Increased circulating IgM lev... ORPHA:83313
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Classic Mycosis Fungoides
Neoplasm of the skin, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Wilson Disease
Anemia, Arthritis, Pathologic fracture, Splenomegaly, Thrombocytopenia, Bruising susceptibility ORPHA:905
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Bone marrow hyp... ORPHA:508542
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, ... OMIM:227650
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neutropenia, Anemia, Persistence of hemoglobin F, Ac... OMIM:260400
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Thrombocytopenia, Bradycardia, Petechiae OMIM:617397
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding time, Congestive heart failure... ORPHA:90308
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
Rare Circulatory System Disease
Intermittent claudication, Limited hip movement, Periostosis, Limitation of joint mobility, Limit... ORPHA:98028
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Intestinal bleeding, Pathologic fracture OMIM:112200
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Juvenile rheumatoid arthritis, Thrombocytopenia, Hemophagocyto... ORPHA:158061
Metatropic Dysplasia
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... ORPHA:2635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3