Gene Summary

zinc finger with KRAB and SCAN domains 17
Zfp496,  Nizp1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 0.57% (3 of 522)
aorta 0.19% (1 of 524)
blood vessel 0.0%
bone 0.0%
brain 0.75% (4 of 530)
brainstem 0.38% (2 of 527)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 531)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.38% (2 of 533)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 531)
hippocampus 0.57% (3 of 530)
hypothalamus 0.37% (2 of 541)
kidney 3.64% (19 of 522)
large intestine 1.72% (9 of 523)
liver 0.0%
lower urinary tract 0.18% (1 of 543)
lung 0.38% (2 of 530)
lymph node 0.19% (1 of 536)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.38% (2 of 527)
ovary 0.19% (1 of 532)
oviduct 0.0%
pancreas 0.95% (5 of 527)
parathyroid gland 0.2% (1 of 506)
peripheral nervous system 0.37% (2 of 536)
peyer's patch 0.64% (1 of 156)
pituitary gland 0.18% (1 of 542)
prostate gland 2.25% (12 of 534)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 537)
small intestine 1.52% (8 of 528)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 531)
stomach 1.89% (10 of 530)
striatum 0.38% (2 of 524)
testis 0.93% (5 of 538)
thymus 0.19% (1 of 522)
thyroid gland 3.02% (16 of 529)
trachea 0.58% (3 of 514)
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.


XRay Images Forepaw

12 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

13 Images


XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology


8 Images

Anti-nuclear antibody assay


6 Images


XRay Images Skull Lateral Orientation

14 Images

Ear epidermis immunophenotyping


12 Images

Legacy Phenotype Associated Images

View all 127 images

View all 6 images

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
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Cardiomegaly OMIM:227150
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Myocardial eosinophilic infiltration OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
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
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly ORPHA:1980
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia, Ventricular septal defect OMIM:617021
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Anemia, Thrombocytopenia ORPHA:673
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Anemia, Thrombocytopenia ORPHA:101028
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:858
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Thrombocyt... OMIM:601399
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemia, Abnormal hemo... ORPHA:848
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:613839
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular s... OMIM:249270
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:231000
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Thrombocytopenia, Ventricular septal defect ORPHA:49827
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Aplastic anemia, Lymphoc... OMIM:308240
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Ventricular septal defect, Thrombocytopenia OMIM:618624
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia, Pericarditis OMIM:152700
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia ORPHA:158029
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hepatomegaly, Anemia, Cardiomyopathy, Macrocytic anemia, Thrombocytopenia ORPHA:27
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615846
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Hepatomegaly OMIM:614727
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hy... OMIM:603554
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Thrombocytopenia ORPHA:79312
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Thr... ORPHA:507
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Hepatomegaly, Anemi... ORPHA:824
Leukopenia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:108
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:230900
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopenia OMIM:150550
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Neutropenia, Abnormal heart mor... ORPHA:398124
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Anemia, Ventricular septal defect, Thrombocytop... ORPHA:290
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:289916
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abnormal heart morphology, Anemia, Thrombocytopenia, Abnormal cardiac septum morpho... OMIM:608104
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Myocardial fibrosis ORPHA:210136
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Atrial septal defect, Erythroid hypoplasia, Splenomegaly, Hepatomegaly, ... OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... ORPHA:3226
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:619463
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Cardiomegaly, Leukocytosis, Anemia OMIM:618886
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Splenomegaly, Hepat... OMIM:606003
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Anemia, Neutropenia, Thrombocytopenia OMIM:614857
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Hypersplenism, Aortic valve s... OMIM:230800
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Left ventricular hypertrophy, Thrombocytopenia OMIM:611209
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Pericardial effusion, Pericarditis ORPHA:231111
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Dilated cardiomyopathy, Leukopenia, Aplastic anemia, Thrombocytopenia OMIM:613989
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cardiomyopathy, Hepatomegaly, Thrombocytopenia OMIM:251000
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Myocarditis, Neutropenia, Anemia, Cardi... ORPHA:292
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Thrombocytopenia ORPHA:275555
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Hepatomegaly, Thrombocytopenia OMIM:619644
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Abnormality of thrombocytes OMIM:187900
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158061
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:611126
Propionic Acidemia
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Thrombocytopenia OMIM:606054
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Thrombocytopenia ORPHA:370924
Griscelli Syndrome
Leukopenia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia ORPHA:381
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pericarditis, Th... ORPHA:47612
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Gaucher Disease Type 1
Abnormal myocardium morphology, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Hyp... ORPHA:77259
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Atrial septal defect, Splenomegaly, Hepatomegaly, Ventricular septal defect, Thromb... OMIM:614576
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Cardiomyopathy, Thrombocytopenia OMIM:222300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Normochromic anemia, Thrombocytopenia, Pe... OMIM:618775
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia,... OMIM:214500
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia ORPHA:169090
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hyper... OMIM:278000
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:259700
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Prolidase Deficiency
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:170100
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Restrictive cardiomyopathy, Cardiomegal... ORPHA:85451
Wilson Disease
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia ORPHA:905
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Abnormal heart morphology, Anemia, Reticulocytopenia, Thromb... OMIM:600901
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Atrial septal defect, Hypertrophic cardiomyopathy, Splenomegaly, Hep... OMIM:617303
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:64743
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Hepa... ORPHA:79124
Gaucher Disease Type 3
Abnormal myocardium morphology, Pancytopenia, Abnormal heart valve morphology, Splenomegaly, Hepa... ORPHA:77261
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Hepatomegaly, Neutropenia, Anemia, Myocardial necrosis, Per... OMIM:260400
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Abnormal heart morphology, Anemia, Reticulocytopenia, Thromb... OMIM:227650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, N... ORPHA:158048
Necrotizing Enterocolitis
Neutropenia, Abnormal heart morphology, Thrombocytopenia, Leukocytosis ORPHA:391673
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Patent foramen ovale, Thrombocytopenia OMIM:251290
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemi... OMIM:603553
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Leukopenia, Thrombocytopenia OMIM:613845
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, ... OMIM:610733
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Noncompa... ORPHA:508542
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hepatomegaly, Neutropenia, Hemolytic anemia, Thrombocytopenia OMIM:308230
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Thrombocytopenia ORPHA:47
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphopenia OMIM:617591
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Th... OMIM:259720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:267700
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia OMIM:608013
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Hepatomegaly, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... OMIM:301056
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:274150
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Blackfan-Diamond Anemia
Leukopenia, Atrial septal defect, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, Hemolytic anemia,... OMIM:603903
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Cyclic Neutropenia
Cyclic neutropenia, Lymphopenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Pericardial effusion ORPHA:93552
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Hepatomegaly, Thrombocytopenia ORPHA:525731
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Coombs-positive hemolytic anemia, Myocarditis, Microangiopathic ... ORPHA:464343
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:225750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Q Fever
Hepatosplenomegaly, Abnormal heart valve morphology, Endocarditis, Splenomegaly, Myocarditis, Hep... ORPHA:781
Overlap Myositis
Abnormal heart morphology, Leukopenia, Thrombocytopenia ORPHA:206572
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Neutropenia, Anemia, Ventricular septal defect, Reticulocytopenia, Thromb... OMIM:227645
Pseudo-Torch Syndrome 2
Thrombocytopenia, Hepatomegaly, Secundum atrial septal defect OMIM:617397
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Leukopenia, Tetralogy of Fallot, Thrombocytopenia ORPHA:974
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Anemia, Left ventricular hypertrophy, Thrombocytopenia ORPHA:31150
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:99901
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Shwachman-Diamond Syndrome 2
Neutropenia, Thrombocytopenia, Hepatomegaly, Normocytic anemia OMIM:617941
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Hepatome... OMIM:557000
Anemia, Thrombocytopenia ORPHA:79325
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Ventricular septal defect, Aplastic anemia OMIM:300514
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Anemia, Thrombocyt... ORPHA:464329
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymphopenia, Decreased proportion ... ORPHA:1830
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dilated cardiomyopathy, Thrombocytopenia, Ventricular septal d... ORPHA:261250
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Abnormal platelet function, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Pulmonic stenosis, Abnormal cardiac septum morp... OMIM:616737
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Fanconi Anemia, Complementation Group F
Atrial septal defect, Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3320
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Patent foramen ovale, Leukopenia, Atrial septal defect, Hype... ORPHA:505248
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Atrial septal defect, Thrombocytosis, Tricuspid stenosis, Elevated... OMIM:105650
Thrombocytopenia, Hepatomegaly, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Ivic Syndrome
Leukocytosis, Tetralogy of Fallot, Thrombocytopenia OMIM:147750
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Neutropenia, Abnormal heart morphology, Anemia, Reticulocytopenia, Thromb... OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
Castleman Disease
Decreased mean corpuscular volume, Anemia, Restrictive cardiomyopathy, Thrombocytopenia ORPHA:160
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Anemia, Thrombocytopenia ORPHA:261323
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Farber Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:333
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Myocarditis, Thrombocytopenia, Lymphopenia ORPHA:319213
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Myocarditis, Thrombocytopenia, Increased circulating metam... ORPHA:36234
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, Atrial septal defect, Anemia... OMIM:274000
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Atrial septal defect, Biventricular hypertrophy, Autoimmune hemolytic ane... OMIM:619573
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloprol... ORPHA:3260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Patent foramen ovale, Autoimmune hemolytic anemia, Autoimmune thrombocytopeni... ORPHA:391487
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:300972
Leukocytosis, Myocarditis, Microangiopathic hemolytic anemia, Thrombocytopenia, Splenic abscess ORPHA:810
Patent foramen ovale, Biventricular hypertrophy, Muscular ventricular septal defect, B lymphocyto... ORPHA:79324
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:222700
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Leukopenia, Leukocytosis, Thrombocytosis, Endocarditis, Splenomegaly, Hepatomegaly, Myocarditis, ... ORPHA:1304
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:277400
Stevens-Johnson Syndrome
Abnormal myocardium morphology, Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Fibular Hemimelia
Abnormal heart morphology, Thrombocytopenia ORPHA:93323
Gaucher Disease
Abnormal myocardium morphology, Pancytopenia, Abnormal heart valve morphology, Abnormal pericardi... ORPHA:355
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Anemia, Neutropenia, Thrombocytopenia ORPHA:537
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Megaloblastic anemia, Neutropenia, Abnormal heart morphology, Thrombocyto... ORPHA:79282
Porphyria, Congenital Erythropoietic
Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:263700
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Hepatomegaly, Decreased hemoglobin concentration OMIM:619005
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Splenomegaly, Hepatomegaly, Neutropenia, Abnormal heart morphol... ORPHA:699
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Tick-Borne Encephalitis
Abnormal myocardium morphology, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:297
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Congenital Erythropoietic Porphyria
Leukopenia, Splenomegaly, Anisocytosis, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis,... ORPHA:79277
Caroli Syndrome
Leukocytosis, Leukopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia ORPHA:480520
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Anemia, Thrombocytopenia, Ventricular septal defect ORPHA:163979
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hepatomegaly, Anemia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal heart morphology, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:464321
Jacobsen Syndrome
Atrial septal defect, Thrombocytopenia, Ventricular septal defect OMIM:147791
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Anemia, Polycythemia, Thrombocytopenia ORPHA:88673
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Thrombocytopenia, Total anomalous pulmonary venous return, Increased m... ORPHA:487796
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Hepatosplenomegaly, Bacterial endocarditis, Splenomegaly, Mitral valve calcificatio... ORPHA:2072
Insulin-Resistance Syndrome Type B
Enlarged polycystic ovaries, Leukopenia, Thrombocytopenia, Enlarged ovaries ORPHA:2298
Fanconi Anemia
Tetralogy of Fallot, Leukopenia, Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal aort... ORPHA:84
Dubowitz Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia, Acute lymphoblastic leukemia ORPHA:235
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Kikuchi-Fujimoto Disease
Leukopenia, Myocarditis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Lymphocytosis, Thromboc... ORPHA:50918
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Dyskeratosis Congenita
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:1775
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect... ORPHA:567
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Thrombocytopenia OMIM:612199
Cornelia De Lange Syndrome 1
Thrombocytopenia, Ventricular septal defect OMIM:122470
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Anemia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Abnor... ORPHA:447
Deeah Syndrome
Thrombocytopenia, Hepatomegaly, Decreased hemoglobin concentration OMIM:619004
Jacobsen Syndrome
Hypoplastic left heart, Aortic valve stenosis, Ventricular septal defect, Thrombocytopenia ORPHA:2308
Hardikar Syndrome
Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Splenomegaly, Hepatomegaly, Parti... OMIM:301068
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal heart valve morphology, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Acute p... ORPHA:77293
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Tetralogy of Fallot, Splenomegaly, Hepatomegaly, Anemia, Ventricular septal de... OMIM:619525
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia ORPHA:647
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia OMIM:256040
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Neutrophilia, Myocarditis, Hepatomegaly, Splenomegaly, Th... ORPHA:99827
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Myocarditis, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Lysinuric Protein Intolerance
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Hepatomegaly, Abnormal heart morphology, Anemia... ORPHA:470
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune thrombocytopenia, Cardiomega... ORPHA:51
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Lymphopenia, Neutrophilia in presence of infection, P... ORPHA:99826
Primary Sjögren Syndrome
Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytope... ORPHA:289390
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:305000
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Hypersplenism, Thrombocytopenia ORPHA:731
Hemorrhagic Fever-Renal Syndrome
Anemia, Thrombocytopenia, Leukocytosis ORPHA:340
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse, Thrombocytopenia ORPHA:666
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Yellow Fever
Leukocytosis, Neutrophilia, Pancreatic hyperplasia, Thrombocytopenia ORPHA:99829
Digeorge Syndrome
Tetralogy of Fallot, Splenomegaly, Anemia, Ventricular septal defect, Truncus arteriosus, Hypopla... OMIM:188400
Eosinophilia, Leukopenia, Increased T cell count, Hepatomegaly, Anemia, Hemolytic anemia, Thrombo... ORPHA:797
Noonan Syndrome 1
Atrial septal defect, Amegakaryocytic thrombocytopenia, Hypertrophic cardiomyopathy, Juvenile mye... OMIM:163950
Thrombocytopenia, Hepatomegaly, Pericarditis ORPHA:509
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Acute Liver Failure
Thrombocytopenia ORPHA:90062


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)