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Gene: Kcnip4 MGI:1933131

Gene Summary

Name:

Kv channel interacting protein 4

Synonyms:

Calp250, KChIP4a

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		Kcnip4^{tm1a(KOMP)Wtsi}	HOM		Early adult	8.58×10^-05

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Legacy Phenotype Associated Images

Kcnip4^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Kcnip4^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

View all 71 images

Kcnip4^{tm1a(KOMP)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

Kcnip4^{tm1a(KOMP)Wtsi}
Fused cornea and lens, HOM, Female, WTSI

Human diseases caused by Kcnip4 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 Kcnip4 (0 diseases)
Human diseases predicted to be associated with Kcnip4 (439 diseases)

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

The table below shows human diseases predicted to be associated to Kcnip4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-...	OMIM:613011
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia	OMIM:150550
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Isovaleric Acidemia	Thrombocytopenia, Leukopenia, Pancytopenia	OMIM:243500
Amed Syndrome, Digenic	Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia	OMIM:619151
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt...	OMIM:308240
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Primary Myelofibrosis	Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg...	ORPHA:824
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia	OMIM:603585
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Babesiosis	Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:108
Leishmaniasis	Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia	ORPHA:507
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:603909
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count	OMIM:616050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia	ORPHA:27
Isolated Agammaglobulinemia	Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Anemia, Splenomegaly, Neutropenia	ORPHA:79312
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly...	OMIM:210250
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Immunodeficiency 114, Folate-Responsive	Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia	OMIM:617475
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:100026
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem...	OMIM:304790
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype...	OMIM:617021
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,...	ORPHA:98850
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia	OMIM:613987
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen...	OMIM:301078
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Neonatal Lupus Erythematosus	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	ORPHA:398124
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Fetal Gaucher Disease	Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:85212
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia	OMIM:618048
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Tularemia	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:3392
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation	OMIM:614074
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis	OMIM:619644
Relapsing Fever	Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis	ORPHA:83601
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:606054
Cog4-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Thrombocytopenia, Leukopenia, Anemia, Pancytopenia	OMIM:613845
Gaucher Disease, Type I	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia	ORPHA:903
Griscelli Syndrome	Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly	ORPHA:381
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:294
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:292
Boutonneuse Fever	Thrombocytopenia, Leukopenia	ORPHA:83313
Transaldolase Deficiency	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:606003
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
X-Linked Agammaglobulinemia	Thrombocytopenia, Anemia, Neutropenia	ORPHA:47
Prolidase Deficiency	Thrombocytopenia, Anemia, Splenomegaly	OMIM:170100
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:613989
Hepatoportal Sclerosis	Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypersplenism	ORPHA:64743
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis	OMIM:274150
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th...	OMIM:214500
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Cholesteryl Ester Storage Disease	Anemia, Bone-marrow foam cells, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, H...	OMIM:278000
Felty Syndrome	Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:47612
Tafro Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:457077
Dengue Fever	Thrombocytopenia, Leukopenia	ORPHA:99828
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Congenital Disorder Of Glycosylation, Type Iil	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:614576
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp...	OMIM:608233
Cyclic Neutropenia	Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia	ORPHA:2686
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Thrombocytopenia, Leukopenia, Neutropenia	OMIM:251000
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis	OMIM:235400
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613990
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:600901
Osteopetrosis, Autosomal Recessive 1	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	OMIM:259700
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	OMIM:242900
Lig4 Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia	OMIM:606593
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto...	OMIM:603553
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:508542
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:251110
Preeclampsia	Thrombocytopenia	ORPHA:275555
Immunodeficiency 40	Thrombocytopenia, T lymphocytopenia	OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction	Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Wilson Disease	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:905
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:540
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Thro...	ORPHA:1830
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227650
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277380
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Hemophagocytic Lymphohistiocytosis, Familial, 1	Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:267700
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:251100
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Hepatosplenomegaly...	OMIM:610377
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Thrombocytopenia, Leukopenia	OMIM:301056
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Thrombocytopenia, Pancytopenia	OMIM:224230
Mirage Syndrome	Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Ebola Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319218
Gaucher Disease Type 1	Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Hepatospleno...	ORPHA:77259
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegaly, Hepatosplenomeg...	OMIM:612541
Mucopolysaccharidosis-Plus Syndrome	Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Neutropenia	OMIM:617303
Avian Influenza	Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:454836
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Pediatric Systemic Lupus Erythematosus	Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia	ORPHA:93552
Immunodeficiency 22	Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia	OMIM:615758
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Proteasome-Associated Autoinflammatory Syndrome 3	Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia	OMIM:617591
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomega...	OMIM:259720
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T...	OMIM:557000
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia	OMIM:618775
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	OMIM:308230
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227645
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Neutropenia	OMIM:616271
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of...	ORPHA:906
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:225750
Chédiak-Higashi Syndrome	Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura...	ORPHA:167
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Sepsis In Premature Infants	Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:90051
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:620654
Adams-Oliver Syndrome	Thrombocytopenia, Leukopenia	ORPHA:974
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia	OMIM:620072
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Gaucher Disease, Perinatal Lethal	Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Overlap Myositis	Thrombocytopenia, Leukopenia	ORPHA:206572
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Kaposiform Lymphangiomatosis	Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:464329
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Farber Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	ORPHA:90038
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Lujo Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Leukocytosis, Lymphopenia	ORPHA:319213
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Castleman Disease	Thrombocytopenia, Anemia, Decreased mean corpuscular volume	ORPHA:160
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Neuroblastoma	Thrombocytopenia, Anemia	ORPHA:635
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227646
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume	OMIM:617718
Bacterial Toxic-Shock Syndrome	Thrombocytopenia, Increased circulating metamyelocyte count, Increased circulating myelocyte count	ORPHA:36234
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia	ORPHA:870
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Congenital Syphilis	Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia	ORPHA:499009
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:300972
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Shigellosis	Splenic abscess, Thrombocytopenia, Leukocytosis, Microangiopathic hemolytic anemia	ORPHA:810
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Alg12-Cdg	B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Thrombocytopenia, Splenomegaly	OMIM:251880
Idiopathic Hypereosinophilic Syndrome	Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly...	ORPHA:3260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Leukopenia, Anemia, Hepatosplenomegaly	ORPHA:505248
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:222700
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Q Fever	Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Dubowitz Syndrome	Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia	ORPHA:235
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Stevens-Johnson Syndrome	Thrombocytopenia, Abnormality of neutrophils, Anemia	ORPHA:36426
Gaucher Disease Type 3	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	ORPHA:77261
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277400
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Neuroleptic Malignant Syndrome	Thrombocytosis, Thrombocytopenia, Leukocytosis	ORPHA:94093
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uroporphyrinogen III cosynt...	OMIM:263700
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Tangier Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:31150
Dyskeratosis Congenita	Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly	ORPHA:1775
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia	OMIM:620005
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu...	ORPHA:447
Aicardi-Goutieres Syndrome 7	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615846
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ...	OMIM:619573
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Tick-Borne Encephalitis	Thrombocytopenia, Leukopenia, Leukocytosis	ORPHA:297
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Thrombocytopenia, Neutropenia	ORPHA:79282
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia	OMIM:620423
Caroli Syndrome	Hypersplenism, Thrombocytopenia, Leukopenia, Leukocytosis	ORPHA:480520
Pearson Syndrome	Anemia, Pancytopenia, Reticulocytosis, Hypoplastic spleen, Thrombocytopenia, Splenomegaly, Neutro...	ORPHA:699
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenomegaly, Splenom...	OMIM:620376
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Elliptocytosis, Thrombocytopenia, Leukopenia	ORPHA:2785
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Insulin-Resistance Syndrome Type B	Thrombocytopenia, Leukopenia	ORPHA:2298
Thrombocytopenia-Absent Radius Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia	OMIM:274000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Brucellosis	Anemia, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Thrombocytosis, Hypersplenism	ORPHA:1304
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia	ORPHA:163979
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia	OMIM:305000
Primary Sjögren Syndrome	Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk...	ORPHA:289390
Ogden Syndrome	Polycythemia, Thrombocytopenia, Iron deficiency anemia	OMIM:300855
Kikuchi-Fujimoto Disease	Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia	ORPHA:50918
Fanconi Anemia	Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:340
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia	ORPHA:2072
Wilson Disease	Thrombocytopenia, Anemia, Splenomegaly, Hemolytic anemia	OMIM:277900
Gaucher Disease	Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Thrombocytop...	ORPHA:355
Infection-Related Hemolytic Uremic Syndrome	Thrombocytopenia, Leukocytosis, Hemolytic anemia	ORPHA:544482
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticulocytosis, Leukopeni...	ORPHA:99826
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Hepatosplenomegaly	ORPHA:470
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
22Q11.2 Deletion Syndrome	Thrombocytopenia, Abnormality of thrombocytes, Hypoplasia of the thymus, Splenomegaly	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Thrombocytopenia, Anemia	ORPHA:534
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, Splenomegaly, Thrombocytopenia	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iiw	Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia	OMIM:619525
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	ORPHA:536
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Hardikar Syndrome	Hypersplenism, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:301068
Chronic Visceral Acid Sphingomyelinase Deficiency	Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, Autoimmune thrombocytopenia, Hypers...	ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Thrombocytopenia, Splenomegaly	OMIM:256040
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia	ORPHA:51
Sarcoidosis	Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia	ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Liver Disease, Severe Congenital	Anemia, Lymphocytosis, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:619991
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Yellow Fever	Neutrophilia, Thrombocytopenia, Leukocytosis	ORPHA:99829
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Digeorge Syndrome	Thrombocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly	OMIM:188400
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 Kcnip4

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 Kcnip4.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Kcnip4^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Kcnip4^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Kcnip4^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Kcnip4^{tm1a(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Kcnip4^{tm112733(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kcnip4^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Kcnip4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Kcnip4 MGI:1933131

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