Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ankrd44 MGI:3045243

Gene Summary

Name:

ankyrin repeat domain 44

Synonyms:

E130014H08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
thrombocytopenia		Ankrd44^em1(IMPC)J	HOM		Early adult	6.17×10^-06
abnormal head size		Ankrd44^em1(IMPC)J	HOM		Early adult	9.84×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Combined SHIRPA and Dysmorphology

Images

3 Images

View images

X-ray

XRay Images Forepaw

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Electrocardiogram (ECG)

Waveform Image

16 Images

View images

Auditory Brain Stem Response

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

8 Images

View images

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.

Human diseases associated with Ankrd44 (0 diseases)
Human diseases predicted to be associated with Ankrd44 (419 diseases)

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	Matching phenotypes	Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia, Microcephaly	OMIM:615715
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
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	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Fanconi Anemia, Complementation Group G	Microcephaly, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Microcephaly	ORPHA:1980
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Cernunnos-Xlf Deficiency	Microcephaly, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Forsythe-Wakeling Syndrome	Thrombocytopenia, Microcephaly	OMIM:613606
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Aicardi-Goutieres Syndrome 3	Progressive microcephaly, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Fanconi Anemia, Complementation Group V	Anemia, Microcephaly, Thrombocytopenia, Neutropenia	OMIM:617243
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Microcephaly	OMIM:615010
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Phosphoglycerate Dehydrogenase Deficiency	Primary microcephaly, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia, Microcephaly	OMIM:618116
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia, Microcephaly	ORPHA:67048
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Progressive microcephaly	OMIM:610333
Amed Syndrome, Digenic	Acute myeloid leukemia, Microcephaly, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Congenital Disorder Of Glycosylation, Type Iik	Secondary microcephaly, Thrombocytopenia	OMIM:614727
Congenital Disorder Of Glycosylation, Type Iif	Microcephaly, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocyto...	OMIM:603585
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Braddock-Carey Syndrome 2	Thrombocytopenia, Microcephaly	OMIM:619981
Congenital Toxoplasmosis	Thrombocytopenia, Anemia, Microcephaly	ORPHA:858
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Microcephaly	OMIM:612952
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Stt3B-Cdg	Thrombocytopenia, Microcephaly	ORPHA:370924
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Secondary microcephaly, Th...	OMIM:613839
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia, Microcephaly	OMIM:615597
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:507
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia, Microcephaly	ORPHA:290
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia, Microcephaly	OMIM:616577
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Preeclampsia	Thrombocytopenia	ORPHA:275555
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Cog4-Cdg	Microcephaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia	OMIM:618048
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Microcephaly, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Propionic Acidemia	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:606054
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	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	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Braddock-Carey Syndrome 1	Thrombocytopenia, Microcephaly	OMIM:619980
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Griscelli Syndrome	Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:381
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Microcephaly	ORPHA:3322
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Zika Virus Disease	Thrombocytopenia, Microcephaly	ORPHA:448237
Fanconi Anemia, Complementation Group E	Pancytopenia, Microcephaly, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Microcephaly, Thrombocytopenia, Abnormal natural killer ...	ORPHA:79124
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia, Microcephaly	OMIM:606593
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Thrombocytopenia, Microcephaly	OMIM:614576
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Microcephaly, Splenomegaly, Impaired ADP...	OMIM:608233
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
X-Linked Agammaglobulinemia	Thrombocytopenia, Anemia, Neutropenia	ORPHA:47
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Microcephaly, Leukopenia, Thrombocytopenia	OMIM:613990
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Fanconi Anemia, Complementation Group A	Pancytopenia, Microcephaly, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia, Microcephaly	OMIM:224230
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Microcephaly, Thrombocytopenia, Persistenc...	OMIM:617052
Pseudo-Torch Syndrome 2	Thrombocytopenia, Microcephaly	OMIM:617397
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Microcephaly, Leukocytosis, Hepatospleno...	OMIM:610377
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Microcephaly	OMIM:614946
Congenital Disorder Of Glycosylation, Type Iig	Microcephaly, Giant platelets, Anemia, Progressive microcephaly, Thrombocytopenia	OMIM:611209
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Microcephaly	OMIM:251290
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia, Microcephaly	OMIM:301056
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Mucopolysaccharidosis-Plus Syndrome	Microcephaly, Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
Aicardi-Goutieres Syndrome 1	Splenomegaly, Progressive microcephaly, Thrombocytopenia, Microcephaly	OMIM:225750
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Microcephaly	ORPHA:525731
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Microcephaly, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly...	OMIM:612541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:905
Fanconi Anemia, Complementation Group C	Pancytopenia, Microcephaly, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto...	OMIM:603553
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Microcephaly, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Microcephaly, Thrombocytopenia, Neutropenia	OMIM:616271
Recon Progeroid Syndrome	Thrombocytopenia, Anemia, Microcephaly	OMIM:620370
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Reticulocytope...	ORPHA:124
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Microcephaly	OMIM:208085
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Shwachman-Diamond Syndrome 2	Normocytic anemia, Microcephaly, Thrombocytopenia, Neutropenia	OMIM:617941
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia, Microcephaly	OMIM:620072
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Microcephaly, Thrombocytopenia, Primary microcephaly	ORPHA:457351
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia, Microcephaly	OMIM:603467
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Gaucher Disease, Perinatal Lethal	Microcephaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:608013
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia	OMIM:617591
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia, Microcephaly	OMIM:619743
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Progressive microcephaly, Increased mean platelet volume	OMIM:616737
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Thrombocytopenia	OMIM:618775
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Microcephaly	ORPHA:46059
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia, Microcephaly	OMIM:251880
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia, Microcephaly	ORPHA:261323
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Fanconi Anemia, Complementation Group D2	Pancytopenia, Microcephaly, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Microcephaly, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Microcephaly, Reticulocytopenia, Persistence of...	OMIM:105650
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Atelis Syndrome 2	Thrombocytopenia, Anemia, Microcephaly	OMIM:620185
Alg12-Cdg	Progressive microcephaly, B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Lujo Hemorrhagic Fever	Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia	ORPHA:319213
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Dubowitz Syndrome	Abnormality of neutrophils, Microcephaly, Acute lymphoblastic leukemia, Anemia, Thrombocytopenia	ORPHA:235
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Microcephaly, T lymphocytopenia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia	OMIM:300972
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Microcephaly, Splenomegaly, Anemia, Primary microcephaly, Thrombo...	OMIM:615846
Shigellosis	Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:810
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Microcephaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:505248
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Microcephaly	OMIM:301072
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Lysinuric Protein Intolerance	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:222700
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Microcephaly, Acute leukemia, Thrombocytopenia	ORPHA:647
Q Fever	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:781
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Pearson Syndrome	Reticulocytosis, Pancytopenia, Microcephaly, Splenomegaly, Anemia, Neutropenia, Hypoplastic splee...	ORPHA:699
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Cornelia De Lange Syndrome 1	Thrombocytopenia, Microcephaly	OMIM:122470
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia, Microcephaly	ORPHA:163979
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume, Microcephaly	ORPHA:487796
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly	ORPHA:1775
Jacobsen Syndrome	Thrombocytopenia, Microcephaly	OMIM:147791
Wilson Disease	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia	OMIM:277900
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Microcephaly, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Insulin-Resistance Syndrome Type B	Leukopenia, Thrombocytopenia	ORPHA:2298
Brucellosis	Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia	ORPHA:1304
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Microcephaly, Thrombocytopenia, Leukopenia, Anemia	ORPHA:84
Ogden Syndrome	Iron deficiency anemia, Polycythemia, Thrombocytopenia, Microcephaly	OMIM:300855
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Microcephaly, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia	ORPHA:567
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Roberts Syndrome	Thrombocytopenia, Microcephaly	ORPHA:3103
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:2072
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc...	ORPHA:99826
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	ORPHA:470
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe	Anemia, Thrombocytopenia	ORPHA:534
Gaucher Disease	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:355
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827
Aicardi-Goutières Syndrome	Microcephaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly	ORPHA:51
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Hardikar Syndrome	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	OMIM:301068
Chronic Visceral Acid Sphingomyelinase Deficiency	Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy...	ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Thrombocytopenia, Microcytic anemia	OMIM:256040
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Digeorge Syndrome	Microcephaly, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia	OMIM:188400
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Leptospirosis	Thrombocytopenia	ORPHA:509

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
Ankrd44^em1(IMPC)J	Exon Deletion	Mice
Ankrd44^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ankrd44^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ankrd44 MGI:3045243

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Combined SHIRPA and Dysmorphology

X-ray

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Ankrd44 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data