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Gene: Akap8l MGI:1860606

Gene Summary

Name:

A kinase anchor protein 8-like

Synonyms:

Nakap95

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
increased circulating alanine transaminase level	Akap8l^em1(IMPC)J	HOM	Early adult	1.61×10^-05
abnormal coat/ hair morphology	Akap8l^em1(IMPC)J	HOM	Early adult	6.69×10^-05
thrombocytopenia	Akap8l^em1(IMPC)J	HOM	Early adult	4.44×10^-05

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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.

Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

10 Images

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Human diseases caused by Akap8l 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 Akap8l (0 diseases)
Human diseases predicted to be associated with Akap8l (434 diseases)

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

The table below shows human diseases predicted to be associated to Akap8l 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	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Sea-Blue Histiocyte Disease	Absent axillary hair, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
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, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	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, Hypertriglyceridemi...	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, 21	Alopecia, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregat...	OMIM:617443
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
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
Systemic Lupus Erythematosus 17	Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
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, Splenomegaly, Redu...	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
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, Splenomegaly, Abnormal macrophage morphology, 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
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, 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
Omenn Syndrome	Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph...	OMIM:603554
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, Increased blood urea nitrogen, Elevated circu...	ORPHA:231111
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Tufted Angioma	Anemia, Thrombocytopenia, Hypertrichosis	ORPHA:1063
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
Griscelli Syndrome	Silver-gray hair, Abnormal circulating lipid concentration, White hair, Premature graying of hair...	ORPHA:381
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Long eyelashes, Reduced h...	OMIM:301110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:158061
Specific Granule Deficiency 2	Hirsutism, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia	OMIM:617475
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
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Lymphopenia, Nail dystrophy, Thrombocytopenia, Anemia	OMIM:620365
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Nail dystrophy, Thrombocytopenia	OMIM:613987
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
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia...	OMIM:304790
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
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
Cog4-Cdg	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Thick hair	ORPHA:263501
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
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th...	OMIM:614857
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia	ORPHA:229717
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	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
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Thrombocytopenia	ORPHA:79242
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, Hyperammone...	OMIM:251110
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Propionic Acidemia	Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Nail dystrophy, Abnormal leukocy...	ORPHA:3322
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase con...	OMIM:618775
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Albinism, Impaired ADP-induced platelet aggregation, Thrombocytop...	OMIM:614074
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	Anemia, Elevated circulating creatinine concentration, Thrombocytopenia, Hypoalbuminemia	OMIM:608104
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia, White forelock, Nail dystro...	OMIM:613989
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro...	ORPHA:292
X-Linked Agammaglobulinemia	Alopecia, Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, 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
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	Decreased HDL cholesterol concentration, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomeg...	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
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Coarse hair, Leukopenia, Long eyelashes, Splenomegaly, Low anterior hairline, Lo...	OMIM:617303
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Prolidase Deficiency	Facial hirsutism, Splenomegaly, Low posterior hairline, Thrombocytopenia, Anemia	OMIM:170100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Methylmalonic acidemia	OMIM:251000
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Horizontal eyebrow, Long eyelashes, Broad eyebrow, Thrombocytopenia, Synop...	OMIM:620475
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra...	ORPHA:457077
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premature graying of hair, Lymphope...	OMIM:127550
Congenital Rubella Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:290
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pancytopenia, Leukopenia, Nail d...	OMIM:613990
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia, Premature graying of hair	OMIM:620367
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:85212
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:540
Braddock-Carey Syndrome 1	Sparse hair, Thrombocytopenia, Curly hair	OMIM:619980
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
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
Chediak-Higashi Syndrome	Silver-gray hair, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal...	OMIM:214500
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, Thrombocytopenia, Neutropenia, Anemia, Methylmalon...	OMIM:251100
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
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Nail dystrophy, Sparse eyelashes, Thrombocytopenia, Sparse scalp hair	OMIM:224230
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Synophrys	OMIM:606003
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Increased circulating ferritin concentratio...	ORPHA:77259
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Hirsutism, Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:301056
Hermansky-Pudlak Syndrome 2	Albinism, Reduced natural killer cell count, Enlarged platelet dense granules, Fair hair, Hepatos...	OMIM:608233
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
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, ...	OMIM:242900
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Thrombocytopenia	OMIM:253270
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine hair, Increased circulating ferri...	OMIM:222700
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia	OMIM:259700
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Smith-Kingsmore Syndrome	Thrombocytopenia, Curly hair	OMIM:616638
Overlap Myositis	Abnormal circulating lipid concentration, Leukopenia, Thrombocytopenia, Elevated circulating crea...	ORPHA:206572
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ap...	OMIM:617052
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Low anterior hairline	OMIM:606593
Alg8-Cdg	Anemia, Hyponatremia, 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
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Mirage Syndrome	Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen	OMIM:617053
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Neutropenia, Thro...	ORPHA:2330
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na...	ORPHA:1830
Diamond-Blackfan Anemia 21	Coarse hair, Horizontal eyebrow, Erythroid hypoplasia, Thrombocytopenia, Anemia, Widow's peak, Sy...	OMIM:620072
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Broad eyebrow, Thrombocytopenia, High nonceruloplasmin-bound serum copper,...	ORPHA:457351
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
Pediatric Systemic Lupus Erythematosus	Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:93552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Thrombocytopenia, Curly hair	OMIM:610733
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
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, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hyper...	OMIM:259720
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Recon Progeroid Syndrome	Anemia, Hirsutism, Thrombocytopenia, Absent lower eyelashes	OMIM:620370
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f...	OMIM:251880
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Elevated hepatic iron concentration, Thrombocytopenia	OMIM:614946
Porphyria, Congenital Erythropoietic	Alopecia, Hypertrichosis, Elevated circulating uroporphyrin concentration, Splenomegaly, Loss of ...	OMIM:263700
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentr...	ORPHA:79277
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Thrombocytopenia, Hypertriglyceridemia, ...	ORPHA:31150
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
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopen...	ORPHA:90051
Adams-Oliver Syndrome	Alopecia, Leukopenia, Sparse hair, Thrombocytopenia	ORPHA:974
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
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
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
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Mogs-Cdg	Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Thrombocytopenia	ORPHA:79330
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
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Castleman Disease	Anemia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration,...	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	Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat...	OMIM:617718
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Sparse eyebrow, Thrombocytopenia, Increased mean platelet volume, Synophrys	OMIM:616737
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
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Alopecia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukope...	ORPHA:2298
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hypertrichosis, Hepatosplenomegaly, Leukopenia, Long eyelashes, Thrombocytopenia...	ORPHA:505248
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Thrombocytopenia, Anemia, Sparse hair	OMIM:612199
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
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
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Sparse eyebrow, Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:620654
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Low posterior hairline, Thrombocytopenia, B l...	ORPHA:79324
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Hypoplastic nipples, Nail dystrophy, Thrombocytopenia	ORPHA:261323
Dyskeratosis Congenita	Alopecia, White hair, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly, Nail ...	ORPHA:1775
Bcard Syndrome	Coarse hair, Thrombocytopenia	OMIM:612394
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ...	ORPHA:319213
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
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
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocytopenia,...	OMIM:277400
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Gaucher Disease, Perinatal Lethal	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:608013
Dubowitz Syndrome	Sparse lateral eyebrow, Fine hair, Low anterior hairline, Thrombocytopenia, Anemia, Abnormality o...	ORPHA:235
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Thrombocytopenia	OMIM:603467
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia, Sparse hair	ORPHA:870
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
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
Lathosterolosis	Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo...	ORPHA:99826
Nijmegen Breakage Syndrome	Acute leukemia, Abnormal hair morphology, Autoimmune hemolytic anemia, Low anterior hairline, Thr...	ORPHA:647
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Long eyelashes, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hypophosp...	ORPHA:699
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, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con...	OMIM:277900
Cornelia De Lange Syndrome 1	Highly arched eyebrow, Long eyelashes, Curly eyelashes, Hirsutism, Low posterior hairline, Hypopl...	OMIM:122470
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, Leukocytosis, Leukopenia, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Thrombocytopenia	OMIM:620423
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Throm...	ORPHA:2785
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, Elevated circulating C-re...	OMIM:620376
Kikuchi-Fujimoto Disease	Alopecia, Leukopenia, Splenomegaly, Lymphocytosis, Elevated circulating C-reactive protein concen...	ORPHA:50918
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia, Sparse hair	OMIM:620005
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
Dyskeratosis Congenita, X-Linked	Alopecia, Premature graying of hair, Pancytopenia, Leukopenia, Nail dystrophy, Sparse eyelashes, ...	OMIM:305000
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Decreased HDL 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
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Thrombocytopenia	ORPHA:36426
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Sparse eyebrow, Thrombocytopenia, Increased mean platelet volume, Synophrys	ORPHA:487796
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
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Microcytic anemia, Premature graying of hair, Hypertrich...	OMIM:256040
Liver Disease, Severe Congenital	Dry hair, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomeg...	OMIM:619991
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein co...	ORPHA:1304
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
Deeah Syndrome	Low posterior hairline, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Thro...	ORPHA:534
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Ogden Syndrome	Sparse eyebrow, Polycythemia, Fine hair, Long eyelashes, Hyperbilirubinemia, Iron deficiency anem...	OMIM:300855
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Jacobsen Syndrome	Abnormal eyelash morphology, Thrombocytopenia	OMIM:147791
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concen...	ORPHA:99827
Systemic Lupus Erythematosus	Alopecia, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Fanconi Anemia	Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Jacobsen Syndrome	Thrombocytopenia, Aplasia/Hypoplasia of the eyebrow	ORPHA:2308
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia	ORPHA:567
Roberts Syndrome	Sparse hair, Thrombocytopenia	ORPHA:3103
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:2072
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentration, Hyponat...	ORPHA:731
Hardikar Syndrome	Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly, Thrombocytopenia	OMIM:301068
Sarcoidosis	Alopecia, Leukopenia, Hypercalcemia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anem...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Anemia, Splenomegaly, Thrombocytopenia	OMIM:619525
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	Low posterior hairline, Woolly hair, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocyt...	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 Akap8l

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 Akap8l.

No publications found that use IMPC mice or data for Akap8l.

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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
Akap8l^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Akap8l^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Akap8l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Akap8l^em1(IMPC)J	Exon Deletion	Mice
Akap8l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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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Gene: Akap8l MGI:1860606

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Akap8l mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data