Gene Summary

Name:
tRNA methyltransferase 1 like
Synonyms:
Trm1-like,  1190005F20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Trmt1lGt(W027A02)Wrst HOM   Early adult 9.05×10-05
thrombocytopenia Trmt1lGt(W027A02)Wrst HOM Early adult 2.43×10-08
abnormal iron homeostasis Trmt1lGt(W027A02)Wrst HOM Early adult 3.94×10-06

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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 Trmt1l 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 Trmt1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hemochromatosis, Type 2B
Anemia, Increased circulating iron concentration, Splenomegaly, Elevated transferrin saturation, ... OMIM:613313
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S... OMIM:615234
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased circulating iron concentration ORPHA:446
Hemochromatosis, Type 3
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... OMIM:604250
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... OMIM:604290
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Increased serum bile acid concentration, Iron deficiency a... OMIM:616278
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... OMIM:603552
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Hemochromatosis, Type 4
Elevated transferrin saturation, Increased circulating ferritin concentration, Anemia OMIM:606069
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased circulating iron concentration, Splenomegaly OMIM:602390
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... OMIM:613101
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:2123
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Transaldolase Deficiency
Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Th... ORPHA:101028
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:617395
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,... ORPHA:507
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... OMIM:620603
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:465508
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni... OMIM:613845
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased mean platelet volume, Increased cir... OMIM:222470
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia ORPHA:27
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased circulating iron concentration, Splenomegaly OMIM:235200
Foxp1 Syndrome
Decreased circulating iron concentration ORPHA:391372
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612925
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... ORPHA:309854
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:69077
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme concentration or activi... ORPHA:101330
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Dietary Iron Overload Disease
Elevated transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferri... ORPHA:139507
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia OMIM:610333
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Decre... OMIM:618048
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration OMIM:614602
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... OMIM:614857
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Babesiosis
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... OMIM:185070
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... OMIM:251110
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia OMIM:619151
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mean platelet volume, Spleno... ORPHA:84064
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia OMIM:150550
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ... ORPHA:89842
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:3240
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia ORPHA:229717
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Propionic Acidemia
Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, Neutropenia OMIM:606054
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... OMIM:274150
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia OMIM:608104
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Anemia OMIM:620184
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Tafro Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... ORPHA:457077
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Bone-marrow foam cells, In... OMIM:278000
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia, Hyperglycinemia, Neutropenia OMIM:251000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Griscelli Syndrome
Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Splenomegaly, Abnormality... ORPHA:381
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:619743
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:100026
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo... ORPHA:99901
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia OMIM:301054
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia ORPHA:79242
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Sengers Syndrome
Thrombocytopenia OMIM:212350
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ... OMIM:251100
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic anemia, Cystathi... OMIM:277380
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia OMIM:618775
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocyt... OMIM:610377
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Fetal Gaucher Disease
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:85212
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Anemia, Pancytopenia, Splenic infarction, Splenic ruptur... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Combined Oxidative Phosphorylation Deficiency 14
Elevated hepatic iron concentration, Thrombocytopenia, Anemia OMIM:614946
Tularemia
Thrombocytopenia, Anemia, Leukocytosis ORPHA:3392
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Overlap Myositis
Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Elevated circulating crea... ORPHA:206572
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, High nonceruloplasmin-bound serum copper ORPHA:457351
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Lymphopenia OMIM:620365
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation OMIM:614074
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase concentration OMIM:301056
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Gaucher Disease, Type I
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Immunodeficiency 47
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Thrombocytopenia... OMIM:300972
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia ORPHA:903
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Transaldolase Deficiency
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:606003
Mucopolysaccharidosis-Plus Syndrome
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Neutropenia OMIM:617303
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... ORPHA:1830
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Prolidase Deficiency
Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Decreased serum zinc OMIM:201100
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia OMIM:253270
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th... OMIM:214500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:613989
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:47612
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid... OMIM:557000
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytopen... OMIM:222700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... ORPHA:79124
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... ORPHA:90051
Castleman Disease
Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration, Decreased mean c... ORPHA:160
Cyclic Neutropenia
Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia ORPHA:2686
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia OMIM:242900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... OMIM:277900
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613990
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Lig4 Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia OMIM:606593
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Neuroblastoma
Thrombocytopenia, Increased circulating ferritin concentration, Anemia ORPHA:635
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Shigellosis
Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,... ORPHA:810
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:508542
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Decreased serum zinc ORPHA:541423
Immunodeficiency 40
Thrombocytopenia, T lymphocytopenia OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Slc39A8-Cdg
Abnormal blood zinc concentration, Hypomanganesemia ORPHA:468699
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegaly, Hepatosplenomeg... OMIM:612541
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Thrombocytopenia, Pancytopenia OMIM:224230
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Tangier Disease
Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia ORPHA:31150
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Leukopenia... ORPHA:319213
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Immunodeficiency 22
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia OMIM:615758
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia, Hypomethioni... OMIM:277400
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia OMIM:308230
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... ORPHA:699
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227645
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... OMIM:619573
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Thrombocytopenia OMIM:620423
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Thrombocytopenia, Leukopenia, Abno... ORPHA:2298
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Hyperamylasem... ORPHA:99826
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:620654
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole... ORPHA:79282
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia ORPHA:974
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Elliptocy... ORPHA:2785
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbuminemia ORPHA:505248
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Gaucher Disease, Perinatal Lethal
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:608013
Diamond-Blackfan Anemia 21
Thrombocytopenia, Anemia, Erythroid hypoplasia OMIM:620072
Porphyria, Congenital Erythropoietic
Elevated circulating uroporphyrin concentration, Thrombocytopenia, Splenomegaly, Reduced erythroc... OMIM:263700
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Caroli Syndrome
Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy... ORPHA:480520
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Leukopenia, Anemia OMIM:603467
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Kaposiform Lymphangiomatosis
Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology ORPHA:46059
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Aicardi-Goutieres Syndrome 7
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentratio... OMIM:615846
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:297
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Leukocytos... OMIM:620376
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Down Syndrome
Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia ORPHA:870
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen... ORPHA:340
Congenital Syphilis
Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia ORPHA:499009
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Gaucher Disease
Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr... ORPHA:355
Kikuchi-Fujimoto Disease
Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom... ORPHA:50918
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia ORPHA:235
Brucellosis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Splenome... ORPHA:1304
Q Fever
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly ORPHA:781
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Decreased circulating iron concentration ORPHA:438213
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Stevens-Johnson Syndrome
Thrombocytopenia, Abnormality of neutrophils, Anemia ORPHA:36426
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Gaucher Disease Type 3
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia ORPHA:77261
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hypercholesterolemia, Hypo... ORPHA:534
Dyskeratosis Congenita
Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly ORPHA:1775
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia OMIM:251260
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... ORPHA:99829
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia OMIM:620005
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anemia, Iron deficiency anemia, Decreased serum zinc, Abnormal circulating selenium concentration... ORPHA:79408
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Splenomegaly OMIM:301072
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia, Thrombocytopenia, Hepatosplenomegaly, Sple... ORPHA:731
Ogden Syndrome
Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia OMIM:300855
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia ORPHA:647
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophilia, Leu... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... OMIM:256040
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia OMIM:274000
22Q11.2 Deletion Syndrome
Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:567
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Primary Sjögren Syndrome
Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk... ORPHA:289390
Dyskeratosis Congenita, X-Linked
Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia OMIM:305000
Fanconi Anemia
Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Hardikar Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism OMIM:301068
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia ORPHA:2072
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Hypercalcemia, Eosinophilia, Hemoly... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia OMIM:619525
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia ORPHA:536
Acute Liver Failure
Hyperammonemia, Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Anemia, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly OMIM:188400
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia ORPHA:51
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834
Igg4-Related Dacryoadenitis And Sialadenitis