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Gene: Ankrd44 MGI:3045243

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Gene Summary

Name:
ankyrin repeat domain 44
Synonyms:
E130014H08Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Ankrd44em1(IMPC)J HOM Early adult 6.36×10-06
abnormal head size Ankrd44em1(IMPC)J HOM Early adult 8.96×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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

16 Images

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Human diseases caused by Ankrd44 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 Ankrd44 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
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
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Bone Marrow Failure Syndrome 2
Anemia, Microcephaly, Leukopenia, Thrombocytopenia OMIM:615715
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
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
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Fanconi Anemia, Complementation Group G
Microcephaly, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Bilateral Striopallidodentate Calcinosis
Microcephaly, Thrombocytopenia ORPHA:1980
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Cernunnos-Xlf Deficiency
Lymphopenia, Microcephaly, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Forsythe-Wakeling Syndrome
Microcephaly, Thrombocytopenia OMIM:613606
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
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
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Progressive microcephaly, Thrombocytopenia OMIM:610329
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Fanconi Anemia, Complementation Group V
Anemia, Microcephaly, Thrombocytopenia, Neutropenia OMIM:617243
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
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
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Primary microcephaly, Thrombocytopenia OMIM:601815
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Aicardi-Goutieres Syndrome 6
Microcephaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Bone Marrow Failure Syndrome 4
Anemia, Microcephaly, Leukopenia, Thrombocytopenia OMIM:618116
Malaria
Anemia, Thrombocytopenia ORPHA:673
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
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
3-Methylglutaconic Aciduria Type 4
Microcephaly, Thrombocytopenia ORPHA:67048
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Progressive microcephaly, Thrombocytopenia OMIM:610333
Amed Syndrome, Digenic
Leukopenia, Microcephaly, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Congenital Disorder Of Glycosylation, Type Iik
Secondary microcephaly, Thrombocytopenia OMIM:614727
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Microcephaly, Thrombocytopenia, Neutropenia, Macrothrombocyto... OMIM:603585
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Braddock-Carey Syndrome 2
Microcephaly, Thrombocytopenia OMIM:619981
Congenital Toxoplasmosis
Anemia, Microcephaly, Thrombocytopenia ORPHA:858
Aicardi-Goutieres Syndrome 5
Microcephaly, Thrombocytopenia OMIM:612952
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
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Secondary microcephaly, Pancytopenia, Megaloblastic anemia, Th... OMIM:613839
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Stt3B-Cdg
Microcephaly, Thrombocytopenia ORPHA:370924
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Thrombocytopenia OMIM:615597
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia ORPHA:507
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Congenital Rubella Syndrome
Anemia, Microcephaly, Splenomegaly, Thrombocytopenia ORPHA:290
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Microcephaly, Thrombocytopenia OMIM:616577
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Cog4-Cdg
Microcephaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Fetal Cytomegalovirus Syndrome
Anemia, Microcephaly, Splenomegaly, Thrombocytopenia ORPHA:294
Sengers Syndrome
Thrombocytopenia OMIM:212350
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Tularemia
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Microcephaly, Neutropenia, Thrombocytopenia OMIM:613989
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Propionic Acidemia
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:606054
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Braddock-Carey Syndrome 1
Microcephaly, Thrombocytopenia OMIM:619980
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Lig4 Syndrome
Microcephaly, Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Griscelli Syndrome
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia ORPHA:381
Hoyeraal-Hreidarsson Syndrome
Anemia, Microcephaly, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Microcephaly, Abnormal ... ORPHA:79124
Zika Virus Disease
Microcephaly, Thrombocytopenia ORPHA:448237
Fanconi Anemia, Complementation Group E
Pancytopenia, Microcephaly, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Von Willebrand Disease
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Congenital Disorder Of Glycosylation, Type Iil
Microcephaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:614576
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Microcephaly, Neutropenia, Thromboc... OMIM:613990
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... OMIM:614700
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Fanconi Anemia, Complementation Group A
Pancytopenia, Microcephaly, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Dyskeratosis Congenita, Autosomal Recessive 1
Microcephaly, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Pseudo-Torch Syndrome 1
Microcephaly, Splenomegaly, Thrombocytopenia OMIM:251290
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Pseudo-Torch Syndrome 2
Microcephaly, Thrombocytopenia OMIM:617397
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Microcephaly, Thrombocytopenia, Anemi... OMIM:610377
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Mi... OMIM:617052
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Microcephaly, Progressive microcephaly, Thrombocytopenia, Anemia OMIM:611209
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Microcephaly, Thrombocytopenia OMIM:614946
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Microcephaly, Leukopenia, Thrombocytopenia OMIM:301056
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia ORPHA:457077
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia OMIM:242900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Microcephaly, Hy... OMIM:612541
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:259700
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Microcephaly, Neutropenia, Thrombocytopenia, Anemia OMIM:617303
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Pediatric-Onset Graves Disease
Microcephaly, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A... OMIM:603553
Aicardi-Goutieres Syndrome 1
Microcephaly, Progressive microcephaly, Splenomegaly, Thrombocytopenia OMIM:225750
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Preeclampsia
Thrombocytopenia ORPHA:275555
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251110
Fanconi Anemia, Complementation Group C
Pancytopenia, Microcephaly, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227645
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Wilson Disease
Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Micro... OMIM:259720
3-Methylglutaconic Aciduria, Type Viib
Microcephaly, Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia OMIM:277380
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:267700
Recon Progeroid Syndrome
Anemia, Microcephaly, Thrombocytopenia OMIM:620370
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Microcephaly, Thrombocytopenia OMIM:208085
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:93552
Shwachman-Diamond Syndrome 2
Normocytic anemia, Microcephaly, Thrombocytopenia, Neutropenia OMIM:617941
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp... ORPHA:77259
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Microcephaly, Anemia, Thrombocytopenia OMIM:620072
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Primary microcephaly, Thrombocytopenia ORPHA:457351
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Fanconi Anemia, Complementation Group F
Anemia, Microcephaly, Leukopenia, Thrombocytopenia OMIM:603467
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia OMIM:617591
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Microcephaly, Thrombocytopenia, Anemia OMIM:608013
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Secondary microcephaly, Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia OMIM:620654
Takenouchi-Kosaki Syndrome
Progressive microcephaly, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Microcephaly, Thrombocytopenia OMIM:619743
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Lathosterolosis
Microcephaly, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
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
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Microcephaly, Thrombocytopenia ORPHA:261323
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Fanconi Anemia, Complementation Group D2
Pancytopenia, Microcephaly, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227646
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Microcephaly, Splenomegaly, Thrombocytopenia OMIM:251880
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia ORPHA:464329
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Farber Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:333
Atelis Syndrome 2
Anemia, Microcephaly, Thrombocytopenia OMIM:620185
Lujo Hemorrhagic Fever
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:319213
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Alg12-Cdg
Progressive microcephaly, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Bcard Syndrome
Thrombocytopenia OMIM:612394
Neuroblastoma
Anemia, Thrombocytopenia ORPHA:635
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia ORPHA:36234
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia ORPHA:870
Mogs-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:79330
Dubowitz Syndrome
Microcephaly, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia ORPHA:235
Congenital Syphilis
Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis ORPHA:499009
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Microcephaly, Primary microcephaly, Thrombocytopenia, Anemia, Hemolyt... OMIM:615846
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Microcephaly, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia OMIM:300972
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Shigellosis
Thrombocytopenia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia ORPHA:810
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Microcephaly, Thrombocytopenia, Anemia OMIM:620005
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... ORPHA:391487
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Thrombocytopenia OMIM:620423
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia ORPHA:505248
Q Fever
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:781
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Microcephaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:222700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Microcephaly, Splenomegaly, Thrombocytopenia OMIM:301072
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Thrombocytopenia OMIM:612199
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Thrombocytopenia ORPHA:36426
Nijmegen Breakage Syndrome
Acute leukemia, Autoimmune hemolytic anemia, Microcephaly, Thrombocytopenia, Hemolytic anemia ORPHA:647
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Gaucher Disease Type 3
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:77261
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Pearson Syndrome
Pancytopenia, Reticulocytosis, Splenomegaly, Microcephaly, Neutropenia, Thrombocytopenia, Anemia,... ORPHA:699
Dyskeratosis Congenita
Anemia, Abnormality of neutrophils, Splenomegaly, Thrombocytopenia ORPHA:1775
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Porphyria, Congenital Erythropoietic
Reduced erythrocyte uroporphyrinogen III cosynthase activity, Hemolytic anemia, Splenomegaly, Thr... OMIM:263700
Cornelia De Lange Syndrome 1
Microcephaly, Thrombocytopenia OMIM:122470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Microcephaly, Thrombocytopenia, Increased mean platelet volume ORPHA:487796
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Microcephaly, Thrombocytopenia ORPHA:163979
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Tangier Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:31150
Jacobsen Syndrome
Microcephaly, Thrombocytopenia OMIM:147791
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Microcephaly, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:305000
Caroli Syndrome
Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... OMIM:620376
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia ORPHA:2785
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Fanconi Anemia
Leukopenia, Microcephaly, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Ogden Syndrome
Microcephaly, Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia ORPHA:1304
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Hemorrhagic Fever-Renal Syndrome
Anemia, Leukocytosis, Thrombocytopenia ORPHA:340
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Splenomegaly, Microcephaly, Hypoplasia of the thymus, Thrombocytopenia ORPHA:567
Roberts Syndrome
Microcephaly, Thrombocytopenia ORPHA:3103
Wilson Disease
Anemia, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:277900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:2072
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An... ORPHA:355
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:470
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Anemia, Splenomegaly, Thrombocytopenia OMIM:619525
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Microcephaly, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia ORPHA:51
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Hardikar Syndrome
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism OMIM:301068
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy... ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Thrombocytopenia OMIM:256040
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Sarcoidosis
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:797
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia OMIM:619991
Digeorge Syndrome
Splenomegaly, Microcephaly, Hypoplasia of the thymus, Thrombocytopenia, Anemia OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia ORPHA:99829
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Leptospirosis
Thrombocytopenia ORPHA:509
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950

Histopathology

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

There is no histopathology data for Ankrd44

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 Ankrd44.

No publications found that use IMPC mice or data for Ankrd44.

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
Ankrd44em1(IMPC)J Exon Deletion Mice
Ankrd44tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ankrd44tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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