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Gene: Rabggta MGI:1860443

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Gene Summary

Name:
Rab geranylgeranyl transferase, a subunit
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased neutrophil cell number Rabggtatm1.1(KOMP)Vlcg HET Early adult 6.86×10-05
increased hemoglobin content Rabggtatm1.1(KOMP)Vlcg HET Early adult 2.96×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rabggta 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 Rabggta by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Macrothrombocytopenia, Epistaxis, G... OMIM:231200
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... OMIM:155100
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... OMIM:187800
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... OMIM:314050
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggrega... OMIM:617443
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Prolonge... OMIM:137560
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume OMIM:615193
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia, Giant platelets, Prolonge... ORPHA:182050
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Thrombocytopenia 2
Bruising susceptibility, Thrombocytopenia, Leukocytosis OMIM:188000
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... OMIM:124900
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... ORPHA:231393
Bleeding Disorder, Platelet-Type, 19
Anemia, Abnormal bleeding, Macrothrombocytopenia, Epistaxis, Menorrhagia, Thrombocytopenia, Spont... OMIM:616176
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... ORPHA:274
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati... OMIM:614074
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Gray Platelet Syndrome
Abnormality of thrombocytes, Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susc... ORPHA:721
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... ORPHA:98826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... OMIM:601399
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Abnormal bleeding, Retic... OMIM:210250
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism, Post-partum hemorrhage, Impaired platelet aggregation, Bruising suscep... OMIM:614076
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia OMIM:185050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:615285
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregatio... OMIM:614075
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Thrombocytopenia, Epistaxis, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Thrombocytopenia, Epistaxis, Menorrhagia OMIM:613554
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Abnormal bleeding, Increased circulating IgA level OMIM:314000
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Acute Myelomonocytic Leukemia
Anemia, Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Thrombocytopenia 1
Petechiae, Bruising susceptibility, Increased circulating IgE level, Epistaxis, Increased circula... OMIM:313900
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... OMIM:614072
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time, Acute leukemi... ORPHA:3318
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Sea-Blue Histiocyte Disease
Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Abnormal neutrophil count, Bone marrow hypocell... ORPHA:3226
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... OMIM:193400
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume, Petechiae OMIM:273900
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Thrombocytopenia, Abnormal platelet ag... OMIM:614171
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Bleeding Disorder, Platelet-Type, 14
Decreased serum thromboxane B2, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleedin... OMIM:614158
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Curly hair, Cafe-au-lait spot, Trichorrhexis nodosa, Generalize... OMIM:222470
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... OMIM:308240
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, Di... OMIM:616050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Panhypogammaglobulinemia, Generalized hypopigmentation, C... ORPHA:84064
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... ORPHA:325
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Prolonged bleeding time, Hemat... OMIM:301000
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Thrombocytosis, Leukocy... OMIM:263300
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Abnormal eyebrow morphology, Premature gray... ORPHA:381
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... OMIM:300367
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Abnorma... ORPHA:507
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hypopigmentation of the skin, Petechiae, Abnormal bleeding, Hyperpigmenta... ORPHA:158029
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... OMIM:226990
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Alopecia, Decreased circulating antibody level OMIM:616576
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Tufted Angioma
Anemia, Petechiae, Purpura, Thrombocytopenia, Hypertrichosis ORPHA:1063
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Hemophilia B
Prolonged bleeding after surgery, Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Dela... ORPHA:98879
Wt Limb-Blood Syndrome
Irregular hyperpigmentation, Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Systemic Lupus Erythematosus 17
Leukopenia, Alopecia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Petechiae, Coombs-positive hemolytic anemia, Neutropenia in presence of a... OMIM:603909
Takenouchi-Kosaki Syndrome
Sparse eyebrow, Synophrys, Thrombocytopenia, Highly arched eyebrow, Increased mean platelet volume OMIM:616737
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocytopenia, Purpura, Bruisi... ORPHA:906
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Internal hemorrhage, Gastrointestinal hemorrhage, Prolonged b... ORPHA:90308
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... ORPHA:86839
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Bruising ... OMIM:619172
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Reticulated skin pigmentation, Bone marrow hypocellularity, Thr... OMIM:613987
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Macrothrombocy... OMIM:603585
Whim Syndrome 1
Neutropenia OMIM:193670
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:615010
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Hyperpigmentation of the... OMIM:619151
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Elevated circulating C-reactive pr... ORPHA:49566
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly... OMIM:619220
Isovaleric Acidemia
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Sengers Syndrome
Thrombocytopenia OMIM:212350
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Abnormal bleeding, Epistaxis, Elevat... ORPHA:91547
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... OMIM:618048
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia, Impotence OMIM:615750
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnorma... ORPHA:848
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... ORPHA:101028
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Hoyeraal-Hreidarsson Syndrome
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener... ORPHA:3322
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia, Giant platelets OMIM:611209
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... ORPHA:331206
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia OMIM:614900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly OMIM:615387
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Subconjunctival hemorrhage, Elevated circulating C-reactive protein concentration,... OMIM:617718
Dengue Fever
Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Hypoproteinemia, ... ORPHA:99828
Specific Granule Deficiency 2
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia OMIM:617475
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Lathosterolosis
Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Hepatosp... OMIM:607330
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Bruising susceptibility,... ORPHA:520
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... ORPHA:853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia ORPHA:79312
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Drug-Induced Lupus Erythematosus
Anemia, Petechiae, Elevated circulating creatine kinase concentration, Increased blood urea nitro... ORPHA:231111
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Pancytopenia... OMIM:603553
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Hypercalcemia, Anemia ORPHA:69077
Primary Myelofibrosis
Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, ... ORPHA:824
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepa... ORPHA:210136
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Iris hypopigmentation, Pancytopenia, Hypopigmentation of ha... ORPHA:79477
Immunodeficiency With Hyper-Igm, Type 1
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Decreased circulat... OMIM:308230
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Elevated circu... OMIM:185070
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Abnormality of retinal pigmentation ORPHA:858
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Premature graying of hair, Pancytopenia, White forelock, Nail dysplasia, Thrombocytop... OMIM:613989
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... ORPHA:98850
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly OMIM:610333
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Reduced natural killer cell activity, Decreased circulating antibod... ORPHA:540
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Th... OMIM:304790
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Abnormal bleeding, Prolonged prothrombin t... ORPHA:64743
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Omenn Syndrome
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoprot... OMIM:603554
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia, Abnormal bleeding OMIM:616937
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Alopecia, Premature graying of hair, Lymphopenia, Nail pits, Ridged nail, Bon... OMIM:127550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Sparse eyebrow, Synophrys, Thrombocytopenia, Highly arched eyebrow, Increased mean platelet volume ORPHA:487796
Mixed Connective Tissue Disease
Leukopenia, Alopecia, Hemolytic anemia, Purpura, Gastrointestinal hemorrhage, Prolonged bleeding ... ORPHA:809
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:619463
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia OMIM:612783
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
X-Linked Agammaglobulinemia
Alopecia, Anemia, Hypocalcemia, Hypopigmented skin patches, Agammaglobulinemia, Thrombocytopenia,... ORPHA:47
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Dyskeratosis Congenita, Autosomal Recessive 1
Small nail, Sparse scalp hair, Pancytopenia, Hyperpigmentation of the skin, Bone marrow hypocellu... OMIM:224230
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Prolidase Deficiency
Anemia, Petechiae, Increased circulating antibody level, Low posterior hairline, Facial hirsutism... OMIM:170100
Babesiosis
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Lig4 Syndrome
Thrombocytopenia, Amenorrhea, Pancytopenia OMIM:606593
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Boutonneuse Fever
Leukopenia, Petechiae, Increased circulating IgM level, Thrombocytopenia, Increased circulating I... ORPHA:83313
Transcobalamin Ii Deficiency
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:275350
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly ORPHA:398124
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Alopecia, Premature graying of hair, Pancytopenia, Fine hair, Nail dysplasia, Reticul... OMIM:613990
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia, Hyperammonemia ORPHA:79242
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Thick hair, Hepatosplenomegaly ORPHA:263501
Snakebite Envenomation
Abnormal bleeding, Intracranial hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding, Hyponatremi... ORPHA:449285
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... OMIM:613845
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Pseudo-Torch Syndrome 3
Anemia, Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Congenit... OMIM:618886
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune... ORPHA:572
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-... OMIM:619644
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Chédiak-Higashi Syndrome
Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h... ORPHA:167
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Throm... OMIM:251000
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Increased blood urea nitrogen, Schis... OMIM:235400
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T c... OMIM:614576
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Fetal Gaucher Disease
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... OMIM:614857
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, Decreased plasma carniti... ORPHA:99901
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo... ORPHA:2330
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Smith-Kingsmore Syndrome
Thrombocytopenia, Curly hair, Cafe-au-lait spot, Decreased circulating IgA level OMIM:616638
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Epistaxis, Hyperpigmentation of the skin, Thrombocytopenia, ... OMIM:230800
Zika Virus Disease
Retinal pigment epithelial mottling, Thrombocytopenia, Increased circulating IgM level, Subcutane... ORPHA:448237
Congenital Rubella Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormality of retinal pigmentation ORPHA:290
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, N... OMIM:606054
Blue Rubber Bleb Nevus
Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia, Intestinal bleeding OMIM:112200
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Macs Syndrome
Alopecia, Sparse eyebrow, Bruising susceptibility, Hypergonadotropic hypogonadism, Prolonged blee... OMIM:613075
Tularemia
Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... ORPHA:1959
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Abnormal bleeding, Hyperammonemia, Leukocytos... ORPHA:292
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Synophrys, Long eyelashes, Hirsutism, Bone marrow hypocellularity, Increased ... OMIM:617303
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding fo... ORPHA:35909
Ebola Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Abnormal bleeding, Lymphopenia, Gastrointestina... ORPHA:319218
Fanconi Anemia, Complementation Group A
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Bru... OMIM:227650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... OMIM:614700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Barth Syndrome
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia OMIM:302060
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Decreased circulating T4 concentration, Elevated circulating creatinine concentration, Th... OMIM:608104
Fanconi Anemia, Complementation Group E
Anemia, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Hypergonadot... OMIM:600901
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Braddock-Carey Syndrome 1
Thrombocytopenia, Curly hair, Sparse hair OMIM:619980
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Alopecia totalis, Normochromic anemia, Elevated circulating creatine kinase con... OMIM:618775
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Testicular atrophy, Thrombocytopenia, Pigmentary reti... OMIM:222300
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia ORPHA:2169
Felty Syndrome
Anemia, Irregular hyperpigmentation, Generalized hyperpigmentation, Bone marrow hypocellularity, ... ORPHA:47612
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... ORPHA:100026
Mogs-Cdg
Alopecia, Decreased circulating total IgM, Decreased circulating antibody level, Fair hair, Long ... ORPHA:79330
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Lymphopenia, Pancytopen... OMIM:242900
Methylmalonic Aciduria, Cblb Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251110
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Hypochromic anemia,... ORPHA:99147
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Immunodeficiency 40
Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lymphocytopenia OMIM:616433
Wilson Disease
Anemia, Abnormality of the menstrual cycle, Bruising susceptibility, Thrombocytopenia, Splenomegaly ORPHA:905
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Ataxia-Telangiectasia
Premature graying of hair, Decreased circulating antibody level, Lymphopenia, Hypopigmentation of... ORPHA:100
Methylmalonic Aciduria, Cbla Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251100
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Gaucher Disease Type 1
Leukopenia, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia, Bruising s... ORPHA:77259
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Noonan Syndrome 4
High anterior hairline, Sparse eyebrow, Curly hair, Abnormal bleeding, Bruising susceptibility, B... OMIM:610733
Fanconi Anemia, Complementation Group C
Anemia, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Bone marrow ... OMIM:227645
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Schimke Immuno-Osseous Dysplasia
Anemia, Multiple lentigines, Lymphopenia, Abnormal lymphocyte physiology, Hypermelanotic macule, ... ORPHA:1830
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Increased LDL cholesterol concentration, D... OMIM:278000
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Elevated circulating creatine kinase... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia... OMIM:617591
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:259710
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia, Hyperammonemia OMIM:253270
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Mirage Syndrome
Leukopenia, Anemia, Petechiae, Hyperkalemia, Intracranial hemorrhage, Lymphopenia, Thrombocytopen... OMIM:617053
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:3240
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:508542
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis ORPHA:90060
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... ORPHA:811
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Insulin-Resistance Syndrome Type B
Leukopenia, Hyperinsulinemia, Alopecia, Increased serum testosterone level, Abnormal circulating ... ORPHA:2298
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, Panhypogammaglobulinemia, T lym... ORPHA:79124
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Kaposiform Lymphangiomatosis
Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bruising susceptibili... ORPHA:464329
Lysinuric Protein Intolerance
Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Pulmonary hemorrhage, Fine hair, Inc... OMIM:222700
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Transaldolase Deficiency
Anemia, Synophrys, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:606003
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... ORPHA:335
Adams-Oliver Syndrome
Leukopenia, Alopecia, Absent fingernail, Hypoplastic fingernail, Gastrointestinal hemorrhage, Thr... ORPHA:974
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:277380
Celiac Disease, Susceptibility To, 1
Alopecia, Infertility, Decreased circulating IgA level, Thrombocytosis, Macrocytic anemia, Iron d... OMIM:212750
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology, Decreased circulating antibody level ORPHA:169105
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... OMIM:300972
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Alg12-Cdg
Abnormal circulating IgG level, Small nail, Complete or near-complete absence of specific antibod... ORPHA:79324
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:454836
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:259700
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess OMIM:615816
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Hypopigmentation of the skin, Abnormal circulating porphyr... ORPHA:79277
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Premature graying of hair, Fine hair, Nail dysplasia, Intestinal bleeding, Bone marrow hy... OMIM:612199
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Increased serum testosterone level ORPHA:96181
Diamond-Blackfan Anemia 21
Anemia, Horizontal eyebrow, Synophrys, Widow's peak, Erythroid hypoplasia, Coarse hair, Thrombocy... OMIM:620072
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Hellp Syndrome
Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased mean corpuscu... ORPHA:244242
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Overlap Myositis
Elevated circulating creatine kinase concentration, Leukopenia, Thrombocytopenia, Abnormal circul... ORPHA:206572
3-Methylglutaconic Aciduria Type 7
Neutropenia, Infection associated neutropenia ORPHA:445038
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Abnormal bleeding, Conjugated hyperbilirubinemia OMIM:208085
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T... OMIM:557000
Sepsis In Premature Infants
Anemia, Petechiae, Purpura, Abnormal bleeding, Elevated circulating C-reactive protein concentrat... ORPHA:90051
Alg8-Cdg
Thrombocytopenia, Anemia, Hyponatremia ORPHA:79325
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentat... ORPHA:177910
Rift Valley Fever
Retinal hemorrhage, Anemia, Abnormal bleeding, Gingival bleeding, Increased circulating IgM level... ORPHA:319251
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:616271
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Intracranial he... ORPHA:464321
Pseudo-Torch Syndrome 2