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Gene: Zkscan17 MGI:2679270

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Gene Summary

Name:
zinc finger with KRAB and SCAN domains 17
Synonyms:
Zfp496,  Nizp1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Zkscan17tm1b(EUCOMM)Wtsi HET Early adult 8.11×10-07
thrombocytopenia Zkscan17tm1b(EUCOMM)Wtsi HET Early adult 4.94×10-05
preweaning lethality, complete penetrance Zkscan17tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Zkscan17tm1b(EUCOMM)Wtsi
WT, Female, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
WT, Female, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
WT, Female, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
WT, Female, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
WT, Female, WTSI

View all 127 images

Zkscan17tm1b(EUCOMM)Wtsi
TS20 midbrain, HET, Male, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
TS20 chorioallantoic placenta, HET, Male, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
TS20 oral cavity, HET, Male, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
TS20 liver, HET, Male, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
TS20 eye, HET, Male, WTSI

View all 6 images

Zkscan17tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
fetal edema, HOM, Unsexed, WTSI
Zkscan17tm1b(EUCOMM)Wtsi
fetal edema, HOM, Male, WTSI

Human diseases caused by Zkscan17 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Zkscan17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Ethanolaminosis
Cardiomegaly OMIM:227150
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
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
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
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
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
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
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
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia ORPHA:1980
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
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
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
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
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
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
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
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
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
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
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly ORPHA:858
Transaldolase Deficiency
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Atrial septal defect, Thrombocytopenia ORPHA:101028
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomy... ORPHA:848
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
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
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
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Noonan Syndrome 12
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia OMIM:618624
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... OMIM:616689
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia ORPHA:79312
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Thrombocytopenia ORPHA:27
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia OMIM:614727
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thr... ORPHA:507
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:108
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia OMIM:620184
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:824
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutr... OMIM:308240
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Anemia, Atrial septal defect, Thrombocytop... ORPHA:290
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat... ORPHA:398124
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... OMIM:613839
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Myocardial fibrosis, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... OMIM:301078
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:619463
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Anemia, ... OMIM:606003
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Propionic Acidemia
Hepatomegaly, Pancytopenia, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia OMIM:606054
Drug-Induced Lupus Erythematosus
Pericardial effusion, Thrombocytopenia, Pericarditis, Anemia ORPHA:231111
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Preeclampsia
Thrombocytopenia ORPHA:275555
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Anemia, Leukopen... ORPHA:292
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Cardiomyopathy, Neutropenia, Thrombocytopenia OMIM:251000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell c... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:381
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
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Anemia, Leukopenia... ORPHA:77259
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia OMIM:619980
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Th... ORPHA:47612
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Perimembranous ventricular septal defect, Anemia, Hepatomegaly OMIM:608104
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
Wolfram Syndrome 1
Sideroblastic anemia, Cardiomyopathy, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Hypertrophic cardiomyopathy... OMIM:618775
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Atrial septal defect, Thromb... OMIM:614576
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia OMIM:611126
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
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
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Anemia, Neutropenia, Atrial septa... OMIM:277380
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutrope... OMIM:214500
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatospleno... OMIM:278000
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly ORPHA:169090
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:170100
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
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Thrombocytopenia, Right ve... OMIM:208085
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... OMIM:608233
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia, Hepatomegaly OMIM:616433
Wilson Disease
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly ORPHA:905
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ... ORPHA:79124
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Anemia, Leukopenia, Neutropenia, Atrial septal defec... OMIM:617303
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... OMIM:260400
Necrotizing Enterocolitis
Leukocytosis, Abnormal heart morphology, Thrombocytopenia, Neutropenia ORPHA:391673
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Hepatomegaly, Thrombocytopenia OMIM:617397
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosi... OMIM:603553
Pseudo-Torch Syndrome 1
Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly OMIM:251290
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Leukopenia, Pulmonic stenosis, Double outlet right ventr... OMIM:301056
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:610733
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... OMIM:603903
X-Linked Agammaglobulinemia
Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... ORPHA:508542
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Pericarditis, Anemia OMIM:615758
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ... OMIM:610377
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Myocarditis, Coombs-positive hemolytic anemia, Microangiopathic ... ORPHA:464343
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:608013
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Aicardi-Goutieres Syndrome 1
Splenomegaly, Cardiomyopathy, Thrombocytopenia, Hepatomegaly OMIM:225750
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Hepatomegaly ORPHA:525731
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia OMIM:308230
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
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
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Acyl-Coa Dehydrogenase 9 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia ORPHA:99901
Tangier Disease
Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, Coronary artery stenosis, Thrombocytopenia ORPHA:31150
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
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227645
Overlap Myositis
Leukopenia, Thrombocytopenia, Abnormal heart morphology ORPHA:206572
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Adams-Oliver Syndrome
Leukopenia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Thrombocytopenia ORPHA:974
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Reticulocytopenia, Neutropeni... OMIM:557000
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Thrombocytopenia OMIM:300514
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Enlar... ORPHA:464329
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto... ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Thrombocytopenia, Splenomegaly... ORPHA:167
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia OMIM:617941
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Abnormal cardiac septum morphology, Pulmonic stenosis, Increased mean platelet ... OMIM:616737
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:230900
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Fanconi Anemia, Complementation Group F
Atrial septal defect, Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Atrial septal... ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:251880
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Hepatomegaly ORPHA:46059
Castleman Disease
Restrictive cardiomyopathy, Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Thrombocytopenia, Anemia ORPHA:261323
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227646
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Ivic Syndrome
Leukocytosis, Tetralogy of Fallot, Thrombocytopenia OMIM:147750
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Alg12-Cdg
Muscular ventricular septal defect, Biventricular hypertrophy, B lymphocytopenia, Patent foramen ... ORPHA:79324
Atelis Syndrome 2
Thrombocytopenia, Pulmonic stenosis, Anemia, Supravalvar pulmonary stenosis OMIM:620185
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Bacterial Toxic-Shock Syndrome
Myocarditis, Increased circulating metamyelocyte count, Increased circulating myelocyte count, Th... ORPHA:36234
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:222700
Shigellosis
Myocarditis, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia ORPHA:810
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormal myocardium morphology, Abnormality of neutrophils ORPHA:36426
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Brucellosis
Hepatomegaly, Pericarditis, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Myocardi... ORPHA:1304
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Pericardial effusion, Splenomegaly, Anemia, Hypertr... OMIM:615846
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
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly OMIM:619005
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Anemia, Atrial septal defect, Lymphopenia, Patent for... OMIM:620005
Fibular Hemimelia
Thrombocytopenia, Abnormal heart morphology ORPHA:93323
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Splenomegaly, Abnormal heart morphology, Anemia, Car... ORPHA:699
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Dilated cardiomyopathy, Abnormal heart morphology, Neutropenia, Thrombocyto... ORPHA:79282
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:263700
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ... OMIM:274000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal heart morphology ORPHA:464321
Tick-Borne Encephalitis
Abnormal myocardium morphology, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:301072
Dyskeratosis Congenita
Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Anemia ORPHA:1775
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Wilson Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:277900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Caroli Syndrome
Hepatomegaly, Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Thrombocytopenia, Ventricular septal defect, Anemia ORPHA:163979
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume, Abnorm... ORPHA:487796
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia OMIM:147791
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Splenomegaly, Aortic valve c... ORPHA:2072
Kikuchi-Fujimoto Disease
Hepatomegaly, Splenomegaly, Myocarditis, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thromboc... ORPHA:50918
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Abnormal cardiac septum... ORPHA:84
Insulin-Resistance Syndrome Type B
Enlarged polycystic ovaries, Leukopenia, Enlarged ovaries, Thrombocytopenia ORPHA:2298
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormality of thrombocytes, Abnormal pulmonary valve morphology, Sple... ORPHA:567
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Cornelia De Lange Syndrome 1
Ventricular septal defect, Thrombocytopenia OMIM:122470
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly OMIM:619004
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary... OMIM:301068
Lysinuric Protein Intolerance
Hepatomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Hemophagocytosis... ORPHA:470
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Thrombocytopenia ORPHA:2308
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... ORPHA:77293
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Anemia, Tetralogy of Fa... OMIM:619525
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia,... OMIM:619991
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Pericardial effusion, Splenomegaly, Leukocytosis, Myoca... ORPHA:99827
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hemolytic anemia, Leukocytosis, Thrombocytopenia ORPHA:544482
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Neutrophilia in presence of infection, Leukopenia, Ab... ORPHA:99826
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia OMIM:256040
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
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Enlarged kidney ORPHA:731
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Osteogenesis Imperfecta
Abnormal endocardium morphology, Thrombocytopenia, Mitral valve prolapse ORPHA:666
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Yellow Fever
Pancreatic hyperplasia, Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombo... ORPHA:797
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Anemia, Hypoplasia of the thymus, Truncus arteriosus, Te... OMIM:188400
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pu... OMIM:163950
Leptospirosis
Hepatomegaly, Pericarditis, Thrombocytopenia ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Acute Liver Failure
Thrombocytopenia ORPHA:90062

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 Zkscan17

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 Zkscan17.

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) Zkscan17tm1b(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Zkscan17tm1b(EUCOMM)Wtsi Zkscan17tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Zkscan17tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Zkscan17tm1b(EUCOMM)Wtsi PMC5827107

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
Zkscan17tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Zkscan17tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Zkscan17tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zkscan17tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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