Gene Summary

Name:
A kinase anchor protein 8-like
Synonyms:
Nakap95

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/ hair morphology Akap8lem1(IMPC)J HOM Early adult 6.69×10-05
increased circulating alanine transaminase level Akap8lem1(IMPC)J HOM Early adult 1.61×10-05
thrombocytopenia Akap8lem1(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

Electrocardiogram (ECG)

Waveform Image

10 Images

Auditory Brain Stem Response

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

8 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair OMIM:269600
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... OMIM:603552
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... OMIM:617443
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... OMIM:613101
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Systemic Lupus Erythematosus 17
Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Alopecia OMIM:301080
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Transaldolase Deficiency
Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Th... ORPHA:101028
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,... ORPHA:507
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... OMIM:620603
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:2123
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Alopecia OMIM:616576
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia ORPHA:27
Tufted Angioma
Thrombocytopenia, Anemia, Hypertrichosis ORPHA:1063
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Long eyelashes, Leukopenia, Thrombocytopenia, ... OMIM:301110
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Griscelli Syndrome
Premature graying of hair, Abnormal circulating lipid concentration, Silver-gray hair, Abnormal e... ORPHA:381
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Specific Granule Deficiency 2
Anemia, Hirsutism, Thrombocytopenia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia OMIM:610333
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni... OMIM:613845
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612925
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Anemia, Thrombocytopenia, Lymphopenia OMIM:620365
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Thrombocytopenia, Pancytopenia OMIM:613987
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Alopecia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemo... OMIM:304790
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Babesiosis
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia OMIM:619151
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Decre... OMIM:618048
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly, Thick hair ORPHA:263501
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia OMIM:150550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... OMIM:614857
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:69077
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia ORPHA:229717
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia, Alopecia ORPHA:79242
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Anemia OMIM:620184
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... OMIM:185070
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... OMIM:251110
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Propionic Acidemia
Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, Neutropenia OMIM:606054
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochro... OMIM:618775
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha... ORPHA:3322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia OMIM:608104
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:100026
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Albinism, Thrombocytopenia, Impaired ADP-induced platelet aggrega... OMIM:614074
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:3240
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Aplastic anemia, Nail dystrophy, Pancytopenia, White forelock, Leukope... OMIM:613989
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Alopecia, Thrombocytopenia, Neutropenia ORPHA:47
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... OMIM:274150
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Bone-marrow foam cells, In... OMIM:278000
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Sengers Syndrome
Thrombocytopenia OMIM:212350
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Tafro Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... ORPHA:457077
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Mucopolysaccharidosis-Plus Syndrome
Anemia, Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Low anterior hairline, Leuk... OMIM:617303
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia, Hyperglycinemia, Neutropenia OMIM:251000
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Prolidase Deficiency
Anemia, Facial hirsutism, Low posterior hairline, Thrombocytopenia, Splenomegaly OMIM:170100
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Increased mean corpuscular vo... OMIM:127550
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Broad eyebrow, Synophrys, Horizontal eyebrow, Increased mean platelet volu... OMIM:620475
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Aplastic anemia, Nail dystrophy, Neutropenia, Anemia, Macrocytic anemi... OMIM:613990
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Fetal Gaucher Disease
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:85212
Braddock-Carey Syndrome 1
Thrombocytopenia, Sparse hair, Curly hair OMIM:619980
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo... ORPHA:99901
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Tularemia
Thrombocytopenia, Anemia, Leukocytosis ORPHA:3392
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic anemia, Cystathi... OMIM:277380
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ... OMIM:251100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Leukopenia, Splenomegaly, I... OMIM:214500
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocyt... OMIM:610377
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia OMIM:301054
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:619743
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Anemia, Pancytopenia, Splenic infarction, Splenic ruptur... ORPHA:77259
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Nail dystrophy, Pancytopenia, Sparse scalp hair, Sparse eyelashes, Thrombocytopenia OMIM:224230
Transaldolase Deficiency
Anemia, Pancytopenia, Synophrys, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:606003
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Hirsutism, Leukopenia, Elevated circulating creatine kinase concentration OMIM:301056
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell count, Impaired ADP-induced platelet ... OMIM:608233
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia, Alopecia OMIM:253270
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Fine hair, Coars... OMIM:242900
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Leukopenia, Sp... OMIM:222700
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Abnormal ... ORPHA:167
Overlap Myositis
Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Elevated circulating crea... ORPHA:206572
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Gaucher Disease, Type I
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Smith-Kingsmore Syndrome
Thrombocytopenia, Curly hair OMIM:616638
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean cor... OMIM:617052
Lig4 Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Low anterior hairline, Pancytopenia OMIM:606593
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia ORPHA:903
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertr... ORPHA:2330
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... ORPHA:1830
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Diamond-Blackfan Anemia 21
Anemia, Erythroid hypoplasia, Synophrys, Horizontal eyebrow, Thrombocytopenia, Coarse hair, Widow... OMIM:620072
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:47612
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Broad eyebrow, Highly arched eyebrow, Sacral hypertrichosis, Thrombocytopenia, High nonceruloplas... ORPHA:457351
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... ORPHA:79124
Noonan Syndrome 4
High anterior hairline, Thrombocytopenia, Sparse eyebrow, Curly hair OMIM:610733
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Alopecia ORPHA:93552
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Cyclic Neutropenia
Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia ORPHA:2686
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Recon Progeroid Syndrome
Thrombocytopenia, Hirsutism, Anemia, Absent lower eyelashes OMIM:620370
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Loss of eyelashes, Reduced haptoglobin level,... ORPHA:79277
Porphyria, Congenital Erythropoietic
Loss of eyelashes, Absent eyebrow, Elevated circulating uroporphyrin concentration, Thrombocytope... OMIM:263700
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 14
Elevated hepatic iron concentration, Thrombocytopenia, Anemia OMIM:614946
Tangier Disease
Hypertriglyceridemia, Nail dystrophy, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholester... ORPHA:31150
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid... OMIM:557000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:508542
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... ORPHA:90051
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia, Sparse hair, Alopecia ORPHA:974
Immunodeficiency 40
Thrombocytopenia, T lymphocytopenia OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Thrombocytopenia, Increased mean corpuscular volume, Abnormal hair pattern ORPHA:261250
Castleman Disease
Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration, Decreased mean c... ORPHA:160
Mogs-Cdg
Hirsutism, Long eyelashes, Hepatosplenomegaly, Thrombocytopenia, Fair hair, Alopecia ORPHA:79330
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegaly, Hepatosplenomeg... OMIM:612541
Neuroblastoma
Thrombocytopenia, Increased circulating ferritin concentration, Anemia ORPHA:635
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Hirsutism, Thrombocytopenia, Leuko... ORPHA:2298
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Synophrys, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia OMIM:616737
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thick hair, Long eyelashes, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Hypoalbumin... ORPHA:505248
Immunodeficiency 22
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia OMIM:615758
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Nail dystrophy, Anemia, Thrombocytopenia, Sparse hair, Fine hair OMIM:612199
Alg12-Cdg
B lymphocytopenia, Low posterior hairline, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypoc... ORPHA:79324
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia OMIM:308230
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Pancytopenia, Sparse eyebrow, Leukopenia, Thrombocytopenia, Lymphopenia OMIM:620654
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227645
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Nail dystrophy, Hypoplastic nipples, Anemia ORPHA:261323
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Leukopenia... ORPHA:319213
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Anemia, Abnormal eyelash morphology, White hair, Abnor... ORPHA:1775
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia, Coarse hair OMIM:612394
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Shigellosis
Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,... ORPHA:810
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Immunodeficiency 47
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Thrombocytopenia... OMIM:300972
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia, Hypomethioni... OMIM:277400
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Gaucher Disease, Perinatal Lethal
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:608013
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole... ORPHA:79282
Dubowitz Syndrome
Anemia, Sparse scalp hair, Sparse lateral eyebrow, Acute lymphoblastic leukemia, Low anterior hai... ORPHA:235
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Leukopenia, Anemia OMIM:603467
Down Syndrome
Acute megakaryocytic leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Sparse hair, Leukemia ORPHA:870
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Kaposiform Lymphangiomatosis
Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... OMIM:619573
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Hyperamylasem... ORPHA:99826
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology ORPHA:46059
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Abnormal hair morphology, Abnormal hair quantity, Lo... ORPHA:647
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... ORPHA:699
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... OMIM:277900
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Decreased hemoglobin concentration, Thrombocytopenia, Long eyelashes OMIM:619005
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Caroli Syndrome
Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy... ORPHA:480520
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Cornelia De Lange Syndrome 1
Curly eyelashes, Highly arched eyebrow, Hirsutism, Hypoplastic nipples, Low posterior hairline, S... OMIM:122470
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Thrombocytopenia OMIM:620423
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Elliptocy... ORPHA:2785
Aicardi-Goutieres Syndrome 7
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentratio... OMIM:615846
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Congenital Syphilis
Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia ORPHA:499009
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:297
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Leukocytos... OMIM:620376
Kikuchi-Fujimoto Disease
Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Alopecia, Leukopeni... ORPHA:50918
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Sparse hair, Lymphopenia OMIM:620005
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Anemia, Acute myeloid leukemia, Pancytopenia, Sparse e... OMIM:305000
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Q Fever
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly ORPHA:781
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Stevens-Johnson Syndrome
Thrombocytopenia, Abnormality of neutrophils, Anemia ORPHA:36426
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Synophrys, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia ORPHA:487796
Liver Disease, Severe Congenital
Nail dystrophy, Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperal... OMIM:619991
Gaucher Disease Type 3
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia ORPHA:77261
Gaucher Disease
Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr... ORPHA:355
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevate... OMIM:256040
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Brucellosis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Splenome... ORPHA:1304
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen... ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Sparse scalp hair, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Fine ha... ORPHA:534
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia OMIM:251260
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia, Low posterior hairline OMIM:619004
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Ogden Syndrome
Iron deficiency anemia, Hyperbilirubinemia, Long eyelashes, Polycythemia, Sparse eyebrow, Thrombo... OMIM:300855
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Jacobsen Syndrome
Abnormal eyelash morphology, Thrombocytopenia OMIM:147791
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... ORPHA:99829
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Splenomegaly OMIM:301072
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophilia, Leu... ORPHA:99827
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia, Alopecia ORPHA:536
Primary Sjögren Syndrome
Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk... ORPHA:289390
Fanconi Anemia
Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Jacobsen Syndrome
Thrombocytopenia, Aplasia/Hypoplasia of the eyebrow ORPHA:2308
22Q11.2 Deletion Syndrome
Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:567
Roberts Syndrome
Thrombocytopenia, Sparse hair ORPHA:3103
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia, Thrombocytopenia, Hepatosplenomegaly, Sple... ORPHA:731
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia ORPHA:2072
Hardikar Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism OMIM:301068
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Hypercalcemia, Eosinophilia, Hemoly... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia OMIM:619525
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Acute Liver Failure
Hyperammonemia, Thrombocytopenia ORPHA:90062
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia ORPHA:51
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Digeorge Syndrome
Anemia, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Noonan Syndrome 1
Woolly hair, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior ha... 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.

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
Akap8ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Akap8ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Akap8ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Akap8lem1(IMPC)J Exon Deletion Mice
Akap8ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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