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Gene: Zfp787 MGI:1914359

Gene Summary

Name:

zinc finger protein 787

Synonyms:

2210018M03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
impaired glucose tolerance	Zfp787^em1(IMPC)J	HOM	Early adult	1.56×10^-08
increased heart weight	Zfp787^em1(IMPC)J	HOM	Early adult	5.53×10^-10
thrombocytopenia	Zfp787^em1(IMPC)J	HOM	Early adult	4.34×10^-05
decreased circulating HDL cholesterol level	Zfp787^em1(IMPC)J	HOM	Early adult	6.82×10^-05
abnormal cholesterol homeostasis	Zfp787^em1(IMPC)J	HOM	Early adult	3.45×10^-07
abnormal locomotor behavior	Zfp787^em1(IMPC)J	HOM	Early adult	3.06×10^-06
increased fasting circulating glucose level	Zfp787^em1(IMPC)J	HOM	Early adult	3.71×10^-08
decreased prepulse inhibition	Zfp787^em1(IMPC)J	HOM	Early adult	4.12×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Zfp787 mutations

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

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

Human diseases associated with Zfp787 (0 diseases)
Human diseases predicted to be associated with Zfp787 (480 diseases)

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

The table below shows human diseases predicted to be associated to Zfp787 by phenotypic similarity.

Disease	Matching phenotypes	Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Malaria	Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:673
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Neutropenia, Ataxia, ...	OMIM:159550
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a...	OMIM:249270
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Thrombocytopenia	ORPHA:1980
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Thrombocytopenia, Cardiomyopathy	ORPHA:67048
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Aicardi-Goutieres Syndrome 6	Splenomegaly, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata...	ORPHA:99886
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Hypobetalipoproteinemia, Familial, 1	Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased L...	OMIM:615558
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia	ORPHA:295
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis	OMIM:229050
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus	OMIM:598500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, Diabetes...	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula...	OMIM:618838
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Thrombocytopenia, Ataxia, ...	ORPHA:27
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr...	ORPHA:101028
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Anemia, Hepato...	OMIM:606069
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly...	ORPHA:79312
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegaly, Choreoathetosis	ORPHA:289916
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly	OMIM:231000
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, ...	ORPHA:290
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, D...	ORPHA:96180
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc...	OMIM:251110
Congenital Toxoplasmosis	Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia	ORPHA:858
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:608600
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Cog4-Cdg	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Ataxia	ORPHA:263501
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro...	OMIM:613845
Beta-Thalassemia	Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Anemia, Thromb...	ORPHA:848
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Hypocholesterolemia, Ataxia, Hepatomegaly, Stea...	OMIM:266510
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Type 1 Diabetes Mellitus	Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus	OMIM:222100
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:99901
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia,...	OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k...	OMIM:600649
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr...	OMIM:226990
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete...	OMIM:615812
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Cardiomyopathy, Dysmetria, Thrombocytopenia, Ataxia, Athetosis	OMIM:617710
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Immunodeficiency 98 With Autoinflammation, X-Linked	Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolytic a...	OMIM:301078
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocy...	OMIM:251000
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Leishmaniasis	Hypoalbuminemia, Leukopenia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ...	ORPHA:507
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Noonan Syndrome 12	Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Ventricular septal defect	OMIM:618624
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Wolfram Syndrome 1	Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Ataxia, Diabetes me...	OMIM:222300
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Leukopenia, Splenomeg...	OMIM:278000
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ...	OMIM:613839
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria	OMIM:618857
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Thyrocerebroretinal Syndrome	Thrombocytopenia, Ataxia	OMIM:274240
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Overlap Myositis	Abnormal circulating lipid concentration, Abnormal heart morphology, Difficulty walking, Leukopen...	ORPHA:206572
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:108
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Potocki-Lupski Syndrome	Hypocholesterolemia, Atrial septal defect, Patent foramen ovale	OMIM:610883
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:158061
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ...	ORPHA:552
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Steatorrhea	OMIM:607765
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Atelis Syndrome 1	Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia	OMIM:620184
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive ...	OMIM:304790
Abetalipoproteinemia	Hypoalbuminemia, Broad-based gait, Hypotriglyceridemia, Decreased HDL cholesterol concentration, ...	ORPHA:14
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocytopenia, Myocardial fi...	ORPHA:210136
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Pericardi...	OMIM:608776
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Atrial septal defect, T...	OMIM:614857
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Elevated circulating C-reactive prote...	ORPHA:231111
Griscelli Syndrome	Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hep...	ORPHA:381
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Abnor...	ORPHA:158048
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, A...	ORPHA:398124
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Thrombocytopenia, Dilated cardiomyopathy, Hypoglycemia	OMIM:611126
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Necrotizing Enterocolitis	Abnormal heart morphology, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremi...	ORPHA:391673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Squalene Synthase Deficiency	Hypocholesterolemia, Bicuspid aortic valve, Decreased LDL cholesterol concentration, Elevated cir...	OMIM:618156
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia	OMIM:620365
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ...	ORPHA:31150
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Preeclampsia	Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia	ORPHA:275555
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Good Syndrome	Fatigable weakness, Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Diabetes mellitus	ORPHA:169105
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Neutropenia, T...	OMIM:169400
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis	OMIM:152700
Congenital Enterovirus Infection	Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hypera...	ORPHA:292
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenital thrombocytop...	OMIM:618886
Sengers Syndrome	Hypertrophic cardiomyopathy, Thrombocytopenia	OMIM:212350
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein conce...	OMIM:619644
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Perimembranous ventricular septal...	OMIM:608104
Aregenerative Anemia	Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-positive helper...	ORPHA:101096
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Anemia, Me...	OMIM:277380
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia	ORPHA:229717
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Thrombocytopenia	OMIM:616577
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Cardiomyopathy, Steatorrhea, Hypocholesterolemia, Thrombocytosis, Dysmetria, Ata...	OMIM:212065
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Thrombocytopen...	ORPHA:100026
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ...	OMIM:606003
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Conjugated hyperbilirubinemia	ORPHA:294
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leukocytosis, Elevat...	OMIM:610377
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy...	OMIM:603554
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Ataxia	ORPHA:79242
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Hypertrophic cardiomyopathy	OMIM:618810
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased prop...	OMIM:614700
Rhabdoid Tumor	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy...	ORPHA:540
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Amed Syndrome, Digenic	Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:619151
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory side...	OMIM:557000
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Gait disturbance, ...	OMIM:214500
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:619463
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating...	OMIM:618048
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Acanthocytosis	ORPHA:71
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ...	ORPHA:811
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Wars2-Related Combined Oxidative Phosphorylation Defect	Athetosis, Cardiomyopathy, Difficulty walking, Dysmetria, Thrombocytopenia, Ataxia, Neonatal hypo...	ORPHA:572798
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Splenomegaly, Ventricular septal defect, Elevated circulating creatine kinase conce...	OMIM:614576
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Hypertrophic cardiomyopathy, Inability to walk, Leukopenia, Splenomegaly, Anemia...	OMIM:617303
Alg12-Cdg	Hypoalbuminemia, Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal d...	ORPHA:79324
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Hepatoportal Sclerosis	Hypoalbuminemia, Leukopenia, Hypersplenism, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypoproteinemia, Inabili...	ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Type II diabetes mellitus, Thrombocytopenia	OMIM:606593
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Hepatomegaly, ...	OMIM:251880
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Neonatal hypoglycemia, Choreoathetosis	OMIM:616271
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypo...	OMIM:617053
Smith-Kingsmore Syndrome	Thrombocytopenia, Hypoglycemia	OMIM:616638
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, Hepatomegaly	OMIM:617591
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegal...	OMIM:251100
Wilson Disease	Difficulty walking, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:905
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ...	ORPHA:77261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Dengue Fever	Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein c...	ORPHA:457077
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, N...	OMIM:260400
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Conjugat...	OMIM:208085
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase conc...	OMIM:618775
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Braddock-Carey Syndrome 1	Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect	OMIM:619980
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Alg8-Cdg	Anemia, Hyponatremia, Thrombocytopenia, Ataxia	ORPHA:79325
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Increased circulating ferritin concentratio...	ORPHA:77259
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly...	ORPHA:47612
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:259700
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Double...	OMIM:301056
Prolidase Deficiency	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:170100
Pearson Syndrome	Glycosuria, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Pancytopenia, Splenomegaly...	ORPHA:699
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Von Willebrand Disease	Abnormality of thrombocytes, Microcytic anemia, Abnormal mitral valve morphology, Thrombocytopeni...	ORPHA:903
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Partial atrioventricular canal defect, Thrombocytop...	OMIM:620423
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia	ORPHA:47
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Akinesia, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:608013
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Hypoglycemia, Ab...	ORPHA:79282
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, H...	ORPHA:470
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Aicardi-Goutieres Syndrome 1	Cardiomyopathy, Inability to walk, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:225750
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na...	ORPHA:1830
Down Syndrome	Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ...	ORPHA:870
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:151660
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythro...	OMIM:612541
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Anemia, Wad...	OMIM:242900
Pseudo-Torch Syndrome 1	Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent foramen ovale	OMIM:251290
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hyper...	OMIM:259720
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Anemia, Abnormal lympho...	ORPHA:79124
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Hoyeraal-Hreidarsson Syndrome	Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia	ORPHA:3322
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Ataxia, Anemia, Thromb...	OMIM:613990
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Atelis Syndrome 2	Hyperinsulinemia, Dysmetria, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Pulmonic s...	OMIM:620185
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Abnormal heart...	ORPHA:77293
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, P...	OMIM:610733
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, High nonceruloplasmin-bound serum copper, Atrial septal defect, Thrombocytopenia	ORPHA:457351
Shigellosis	Microangiopathic hemolytic anemia, Hypoglycemia, Leukocytosis, Hyponatremia, Splenic abscess, Thr...	ORPHA:810
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia...	OMIM:600901
Pseudo-Torch Syndrome 2	Hepatomegaly, Secundum atrial septal defect, Thrombocytopenia	OMIM:617397
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Gait ataxia, Thrombocytopenia, Unsteady gait, Normochromic anemia	OMIM:254900
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto...	ORPHA:79330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Left ventricular hypertrophy, Giant platelets, Thrombocytopenia	OMIM:611209
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly, Steatorrhea	OMIM:617941
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At...	OMIM:127550
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Immunodeficiency 40	Hepatomegaly, T lymphocytopenia, Thrombocytopenia	OMIM:616433
Neuroblastoma	Increased circulating ferritin concentration, Antalgic gait, Thrombocytopenia, Ataxia, Anemia	ORPHA:635
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Inab...	ORPHA:505248
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Takenouchi-Kosaki Syndrome	Ataxia, Thrombocytopenia, Abnormal cardiac septum morphology, Pulmonic stenosis, Increased mean p...	OMIM:616737
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop...	OMIM:300972
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia...	OMIM:227650
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytopenia, B lymphocytopenia, Neut...	ORPHA:508542
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Pediatric-Onset Graves Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Coombs-positive hemolytic ane...	ORPHA:464343
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, Pericardial effusion	ORPHA:93552
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Lymphopenia, De...	OMIM:619573
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Neutro...	ORPHA:90051
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym...	ORPHA:90363
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Lymphopenia, Pancytopenia, Leukopenia, Ventricular septal defect, Bicusp...	OMIM:620654
Congenital Syphilis	Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia, Myocard...	ORPHA:499009
Cyclic Neutropenia	Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Q Fever	Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia, Myoc...	ORPHA:781
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Thrombocytopenia, Neutropenia, Hepatomegaly, Hemolytic anemia	OMIM:308230
Adams-Oliver Syndrome	Tetralogy of Fallot, Leukopenia, Abnormal pulmonary valve morphology, Thrombocytopenia	ORPHA:974
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Patent fo...	ORPHA:391487
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Pericarditis	OMIM:615758
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperpl...	ORPHA:447
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Elevated hepatic iron concentration, Thrombocytopenia	OMIM:614946
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia, Pericardi...	ORPHA:464329
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia...	OMIM:227645
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Thrombocytopenia, Ventricular septal d...	ORPHA:261250
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia, Ventricular septal defect	OMIM:300514
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Atrial septal defect, Ventricular septal defect	OMIM:244450
Lysinuric Protein Intolerance	Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Splenomegaly, Hyperam...	OMIM:222700
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Castleman Disease	Restrictive cardiomyopathy, Elevated circulating C-reactive protein concentration, Thrombocytopen...	ORPHA:160
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocytopenia,...	OMIM:277400
Gaucher Disease	Aortic valve calcification, Splenic infarction, Decreased HDL cholesterol concentration, Abnormal...	ORPHA:355
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Secundum atrial septal defect, Thrombocytopenia	OMIM:620072
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration, Thr...	ORPHA:319213
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia	OMIM:603467
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Thrombocytopenia, Abnormal cardiac septum morphology	ORPHA:3320
Dyskeratosis Congenita	Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Abnormality of neutrophils, Diabetes mellitus	ORPHA:1775
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Microcytic anemia, Splenomegaly, Cardiomegaly, Elevated ...	OMIM:256040
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell count, Anemia, Ele...	OMIM:620376
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph...	ORPHA:99826
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Abnormal myocardium morphology, Thrombocytopenia, Elevated circulating ...	ORPHA:297
Wilson Disease	Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Splenomegaly, Increased circulatin...	OMIM:277900
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Dubowitz Syndrome	Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia	OMIM:223370
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Atrial septal defect, Thrombocytopenia	ORPHA:261323
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Myocarditis, Hyperkalemia, Hemolytic ...	ORPHA:544482
Ogden Syndrome	Secundum atrial septal defect, Polycythemia, Hyperbilirubinemia, Patent foramen ovale, Ventricula...	OMIM:300855
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly, Truncal ataxia	OMIM:301072
Lathosterolosis	Hepatomegaly, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa...	OMIM:619991
Farber Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:333
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Fibular Hemimelia	Abnormal heart morphology, Difficulty walking, Thrombocytopenia	ORPHA:93323
Fanconi Anemia, Complementation Group D2	Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia...	OMIM:227646
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hypertrophic cardiomyopathy, Pancytopenia, Hemolyti...	OMIM:615846
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrinogen III cosynth...	OMIM:263700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal heart morphology, Thrombocytopenia, Hyperbilirubinemia, Hypertrophic cardiomyopathy	ORPHA:464321
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophi...	ORPHA:3260
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Myocarditis, Anemia, Lymphocytosis, Elevated circulating C-reactive pro...	ORPHA:50918
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Thrombocytopenia, Hepatomegaly, Conj...	ORPHA:480520
Deeah Syndrome	Hepatomegaly, Neonatal hypoglycemia, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormal aortic valve morphology, Thromboc...	ORPHA:1304
Ivic Syndrome	Tetralogy of Fallot, Leukocytosis, Thrombocytopenia	OMIM:147750
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Difficulty walking, Hepatosple...	ORPHA:51
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Thrombocytopen...	ORPHA:163979
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia, Ataxia	OMIM:612199
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Broad-based gait, Abnormality of the spleen, ...	ORPHA:2072
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Abnormal myocardium morphology, Thrombocytopenia	ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Tetralogy of Fallot, Microcytic anemia, Splenomegaly, Ventricular septa...	OMIM:619525
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Abnormal myocardium morphology, Neutropenia	ORPHA:537
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat...	OMIM:617718
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Splenomegaly, Elevated circula...	OMIM:270400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Patent foramen ovale, Atrial septal defe...	OMIM:620005
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi...	ORPHA:2785
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular...	OMIM:274000
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormal heart morphology, Total anomalous pulmonary venous return, Thrombocytopenia, Increased m...	ORPHA:487796
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Splenomega...	ORPHA:567
Fanconi Anemia	Hypertrophic cardiomyopathy, Tetralogy of Fallot, Leukopenia, Abnormal aortic valve morphology, A...	ORPHA:84
Oculocerebrorenal Syndrome Of Lowe	Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone...	ORPHA:534
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Ventri...	OMIM:301068
Jacobsen Syndrome	Atrial septal defect, Thrombocytopenia, Ventricular septal defect	OMIM:147791
Acute Liver Failure	Thrombocytopenia, Hyperammonemia, Hypoglycemia, Ataxia	ORPHA:90062
Cornelia De Lange Syndrome 1	Thrombocytopenia, Ventricular septal defect	OMIM:122470
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Ataxia, Anemia	OMIM:305000
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Thrombocytopenia, Ventricular septal defect	ORPHA:2308
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine...	ORPHA:99827
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentration, Hyponat...	ORPHA:731
Osteogenesis Imperfecta	Mitral valve prolapse, Loss of ambulation, Abnormal endocardium morphology, Gait disturbance, Thr...	ORPHA:666
Nijmegen Breakage Syndrome	Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia	ORPHA:647
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc...	ORPHA:99829
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Sarcoidosis	Leukopenia, Hypercalcemia, Increased T cell count, Anemia, Eosinophilia, Thrombocytopenia, Hepato...	ORPHA:797
Digeorge Syndrome	Tetralogy of Fallot, Splenomegaly, Hypocalcemia, Truncus arteriosus, Ventricular septal defect, H...	OMIM:188400
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Leptospirosis	Hepatomegaly, Hyperproteinemia, Thrombocytopenia, Pericarditis	ORPHA:509
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial ...	OMIM:163950
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078

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 Zfp787

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 Zfp787.

No publications found that use IMPC mice or data for Zfp787.

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MGI Allele	Allele Type	Produced
Zfp787^em1(IMPC)J	Exon Deletion	Mice
Zfp787^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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