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Gene: Ralgps1 MGI:1922008

Gene Summary

Name:

Ral GEF with PH domain and SH3 binding motif 1

Synonyms:

RALGEF2, RALGPS1A, 5830418G11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal vocalization	Ralgps1^em1(IMPC)J	HOM	Early adult	2.42×10^-10
thrombocytopenia	Ralgps1^em1(IMPC)J	HOM	Early adult	2.34×10^-05
increased circulating aspartate transaminase level	Ralgps1^em1(IMPC)J	HOM	Early adult	8.21×10^-11

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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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Ralgps1 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.

Human diseases associated with Ralgps1 (0 diseases)
Human diseases predicted to be associated with Ralgps1 (434 diseases)

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

The table below shows human diseases predicted to be associated to Ralgps1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc...	ORPHA:507
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia	ORPHA:27
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:210136
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro...	OMIM:613845
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Amed Syndrome, Digenic	Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:619151
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating...	OMIM:618048
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne...	OMIM:614857
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia	ORPHA:229717
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Rhabdoid Tumor	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu...	OMIM:619644
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci...	OMIM:251110
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Propionic Acidemia	Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:606054
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia	OMIM:608104
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Cog4-Cdg	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,...	OMIM:278000
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Methylmalonic acidemia	OMIM:251000
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-...	ORPHA:457077
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Congenital Rubella Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:290
Griscelli Syndrome	Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality...	ORPHA:381
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:85212
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas...	OMIM:277380
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Methylmalon...	OMIM:251100
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	ORPHA:79242
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Splenomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614576
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ...	OMIM:610377
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration	OMIM:618775
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio...	ORPHA:77259
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia	OMIM:259700
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Overlap Myositis	Leukopenia, Thrombocytopenia, Abnormal circulating lipid concentration, Elevated circulating crea...	ORPHA:206572
Alg8-Cdg	Hyponatremia, Anemia, Thrombocytopenia	ORPHA:79325
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:606003
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:301056
Mirage Syndrome	Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen	OMIM:617053
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia	OMIM:170100
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na...	ORPHA:1830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia	OMIM:617303
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen...	ORPHA:811
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	OMIM:617591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Cyclic Neutropenia	Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,...	OMIM:259720
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f...	OMIM:251880
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia, Elevated hepatic iron concentration	OMIM:614946
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia	OMIM:606593
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:508542
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo...	OMIM:557000
Wilson Disease	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:905
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:90051
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Hoyeraal-Hreidarsson Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	ORPHA:470
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Castleman Disease	Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,...	ORPHA:160
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased...	OMIM:617718
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Neuroblastoma	Anemia, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:635
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227645
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ...	ORPHA:319213
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Shigellosis	Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess, Thrombocytopenia,...	ORPHA:810
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop...	OMIM:300972
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:620654
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Thro...	OMIM:277400
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Gaucher Disease, Perinatal Lethal	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:608013
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Thrombocytopenia	OMIM:603467
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal...	ORPHA:79282
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Farber Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:333
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Abnor...	ORPHA:2298
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia	ORPHA:505248
Lathosterolosis	Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Hypophosp...	ORPHA:699
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ...	OMIM:277900
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia, Hyperglycinemia, Hypernatremia	OMIM:620423
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Splenomegaly, Thrombocytopenia, Reduced erythroc...	OMIM:263700
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia	ORPHA:870
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Throm...	ORPHA:2785
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Congenital Syphilis	Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis	ORPHA:499009
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemi...	OMIM:615846
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Anemia, Thrombocytopenia,...	OMIM:620376
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hypersplenism,...	ORPHA:77293
Q Fever	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	ORPHA:781
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Thrombocytopenia	ORPHA:36426
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Gaucher Disease	Splenic infarction, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Splen...	ORPHA:355
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Thrombocytosis, ...	ORPHA:1304
Dyskeratosis Congenita	Anemia, Abnormality of neutrophils, Splenomegaly, Thrombocytopenia	ORPHA:1775
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia	ORPHA:544482
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia	OMIM:620005
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Anemia, Lymphocytosis, Neutropenia, Thrombocytopenia, Elevated circulat...	ORPHA:50918
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Nijmegen Breakage Syndrome	Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia	ORPHA:647
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Thrombocytopeni...	ORPHA:534
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper...	OMIM:619991
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Ogden Syndrome	Thrombocytopenia, Hyperbilirubinemia, Polycythemia, Iron deficiency anemia	OMIM:300855
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concen...	ORPHA:99827
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Hypertriglyceridemia, Thrombocytopenia, Decreased HDL cholestero...	OMIM:256040
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:305000
Fanconi Anemia	Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia	ORPHA:567
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:2072
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponat...	ORPHA:731
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Hardikar Syndrome	Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly, Thrombocytopenia	OMIM:301068
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Anemia, Splenomegaly, Thrombocytopenia	OMIM:619525
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Sarcoidosis	Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly...	ORPHA:797
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia	ORPHA:51
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Digeorge Syndrome	Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Anemia	OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ralgps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ralgps1.

No publications found that use IMPC mice or data for Ralgps1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ralgps1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ralgps1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ralgps1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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