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Gene: Dcun1d3 MGI:2679003

Gene Summary

Name:

defective in cullin neddylation 1 domain containing 3

Synonyms:

DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae), 1700020A13Rik

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
preweaning lethality, incomplete penetrance	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
decreased fasting circulating glucose level	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	8.75×10^-11
increased red blood cell distribution width	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	1.48×10^-06
thrombocytopenia	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	6.10×10^-05
increased circulating bilirubin level	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	1.33×10^-18
decreased total body fat amount	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	6.45×10^-05
increased lean body mass	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	2.23×10^-05
decreased circulating glucose level	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	2.26×10^-08
decreased circulating HDL cholesterol level	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	5.78×10^-10
decreased circulating cholesterol level	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	2.15×10^-09
increased circulating alkaline phosphatase level	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	2.32×10^-05
improved glucose tolerance	Dcun1d3^{em1(IMPC)Wtsi}	HOM	Early adult	1.02×10^-05

Download data as: TSV XLS

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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.

DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images

Dcun1d3^{em1(IMPC)Wtsi}
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI

Dcun1d3^{em1(IMPC)Wtsi}
head, snout, abnormal snout morphology, short snout, HOM, Male, WTSI

Dcun1d3^{em1(IMPC)Wtsi}
head, abnormal snout morphology, asymmetric snout, snout, HOM, Male, WTSI

Dcun1d3^{em1(IMPC)Wtsi}
narrow eye opening, eye, abnormal eye morphology, HOM, Female, WTSI

Dcun1d3^{em1(IMPC)Wtsi}
head, snout, abnormal snout morphology, asymmetric snout, HOM, Male, WTSI

Human diseases caused by Dcun1d3 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 Dcun1d3 (0 diseases)
Human diseases predicted to be associated with Dcun1d3 (651 diseases)

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

The table below shows human diseases predicted to be associated to Dcun1d3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri...	OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen...	OMIM:620010
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia, Failure to thrive	OMIM:129850
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an...	OMIM:235700
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci...	OMIM:616278
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen...	OMIM:618892
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio...	OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan...	OMIM:612526
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole...	OMIM:615558
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red...	OMIM:266200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch...	OMIM:616834
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy...	ORPHA:324575
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Small for gestational age	ORPHA:3363
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Hepatic Veno-Occlusive Disease	Increased body weight, Increased total bilirubin	ORPHA:890
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A...	ORPHA:96180
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia	OMIM:609734
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto...	OMIM:232800
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Failure to thrive, Thrombocytopenia	ORPHA:67048
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulat...	OMIM:617049
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231226
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,...	ORPHA:288
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration	ORPHA:446
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytope...	OMIM:251110
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:306000
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:268150
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria, Hyperbilirubinemia, Redu...	OMIM:227810
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia	OMIM:607765
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Thrombocytope...	OMIM:251880
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Failure to thrive, Splenomegaly	OMIM:269920
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Hyperbilirubinemia, Hernia	ORPHA:101009
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus	OMIM:598500
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Failure to thri...	OMIM:614300
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinas...	OMIM:614727
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Anemia, Elevated transferrin s...	OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased total bilirubin, Increased circul...	OMIM:603553
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity...	ORPHA:73272
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Diarrhea 13	Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinem...	OMIM:557000
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ...	OMIM:618838
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Squalene Synthase Deficiency	Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra...	OMIM:618156
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy	OMIM:608776
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Inc...	OMIM:617872
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia	ORPHA:95715
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut...	OMIM:615285
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Splenomegaly, Hyperbilirubinemia, Failure to thrive	OMIM:235555
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Camptodactyly, Flexion contracture, Failure to thrive, Anisocytosis	OMIM:604273
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Glycogen Storage Disease Xii	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat...	OMIM:611881
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile acid con...	ORPHA:79303
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Potocki-Lupski Syndrome	Hypocholesterolemia, Small for gestational age, Failure to thrive	OMIM:610883
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Acanthocytosis, Failure to thrive	ORPHA:71
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Hyperty...	OMIM:617156
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Propionic Acidemia	Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thro...	OMIM:606054
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin	ORPHA:90037
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thromb...	OMIM:251000
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95717
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy...	OMIM:258900
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ...	ORPHA:552
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosi...	OMIM:618278
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia, Hypoglycemia	ORPHA:664
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th...	OMIM:266510
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt...	OMIM:226990
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome...	OMIM:614857
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ...	ORPHA:348
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugate...	OMIM:617093
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Neonatal death, Elevated circulating creatine kinase concentration, Decreased circu...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Neonatal death, Elevated circulating creatine kinase concentration, Decreased circu...	OMIM:618839
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l...	ORPHA:507
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:79312
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca...	OMIM:613280
Propionic Acidemia	Hyperammonemia, Hypoglycemia	ORPHA:35
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch...	ORPHA:79237
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	ORPHA:49827
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Glycosuria, Arthrogryposis multiplex congenita, Failure to thrive, Conjugated hyperbilirubinemia	OMIM:613404
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ...	ORPHA:494444
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia	OMIM:261750
Preeclampsia	Elevated circulating creatinine concentration, Type I diabetes mellitus, Small for gestational ag...	ORPHA:275555
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Mitchell-Riley Syndrome	Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus	OMIM:615710
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Stuve-Wiedemann Syndrome 2	Camptodactyly, Neonatal death, Thrombocytopenia, Stillbirth	OMIM:619751
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoglycemia, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatini...	OMIM:608836
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, H...	OMIM:259720
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lipodystrophy, Thrombocytopenia, B lym...	OMIM:618048
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype...	ORPHA:3008
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Th...	ORPHA:79324
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia	ORPHA:27
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia	OMIM:249270
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
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase con...	OMIM:618120
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin...	ORPHA:14
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Cholestasis, Progressive Familial Intrahepatic, 2	Splenomegaly, Conjugated hyperbilirubinemia, Failure to thrive	OMIM:601847
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia	ORPHA:2089
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Overlap Myositis	Abnormal circulating lipid concentration, Abnormality of connective tissue, Leukopenia, Elevated ...	ORPHA:206572
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Failure to thrive, Decreased serum bile acid concentration	OMIM:214950
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Neonatal death...	OMIM:608104
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Failure to thrive	OMIM:619484
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Thrombocytopenia, Conjugated hyperbilirubinemia, Arthrogryposis multiplex cong...	OMIM:208085
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophili...	OMIM:304790
Cholestasis, Progressive Familial Intrahepatic, 1	Splenomegaly, Conjugated hyperbilirubinemia, Failure to thrive	OMIM:211600
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Neonatal death	OMIM:618810
Graft Versus Host Disease	Failure to thrive, Hemophagocytosis, Fasciitis, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren...	ORPHA:39812
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Immunodeficiency 46	Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Cholesteryl Ester Storage Disease	Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy...	OMIM:278000
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Umbilical hernia	ORPHA:95716
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
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 3	Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridem...	OMIM:617591
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Decreased body weight	OMIM:614886
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Rhabdoid Tumor	Anemia, Weight loss, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Hyperbilirubinemia	ORPHA:79302
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase...	OMIM:231100
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib...	OMIM:212065
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Isolated Agammaglobulinemia	Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormal...	ORPHA:229717
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperpl...	ORPHA:447
Orthostatic Hypotension 2	Anemia, Hypoglycemia	OMIM:618182
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Splenomegaly, Hyperbilirubinemia, Failure to thrive	OMIM:613812
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Congenital Rubella Syndrome	Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia	ORPHA:290
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy...	OMIM:277380
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Spastic Paraplegia 29, Autosomal Dominant	Hiatus hernia, Neonatal hyperbilirubinemia	OMIM:609727
Lathosterolosis	Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Anisopoikiloc...	OMIM:607330
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Small for gestational age, Increased serum bile acid concentration	ORPHA:69665
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Specific Granule Deficiency 2	Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Neutropenia, Thr...	OMIM:617475
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Congenital Toxoplasmosis	Failure to thrive in infancy, Anemia, Thrombocytopenia	ORPHA:858
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:210136
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia	ORPHA:90060
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia, Ane...	OMIM:617053
Necrotizing Enterocolitis	Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro...	ORPHA:391673
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Wilson Disease	Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Glycosuria, Hemolytic anemia, Hyperbilirubinemi...	OMIM:277900
Fumarase Deficiency	Polycythemia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Failure to thrive	OMIM:606812
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
X-Linked Agammaglobulinemia	Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Thrombocytopenia, Anemia	ORPHA:47
Glycogen Storage Disease Ixc	Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia	OMIM:613027
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer...	OMIM:615812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia	OMIM:608885
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia	OMIM:620365
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Neutrophi...	OMIM:619644
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ...	OMIM:251100
Immunodeficiency 98 With Autoinflammation, X-Linked	Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom...	OMIM:301078
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Smith-Kingsmore Syndrome	Hypoglycemia, Large for gestational age, Thrombocytopenia, Umbilical hernia	OMIM:616638
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:615085
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia, Ne...	OMIM:614887
Fructose Intolerance, Hereditary	Failure to thrive, Hypoglycemia, Glycosuria, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia,...	OMIM:229600
Cystic Echinococcosis	Eosinophilia, Hyperbilirubinemia, Weight loss, Splenic cyst	ORPHA:400
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Anemia, Thrombocytopenia...	ORPHA:79325
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Neut...	OMIM:169400
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Thrombocytopenia	ORPHA:79242
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased body weight	OMIM:231000
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	OMIM:614736
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Slender build, Pancytopenia, Inguinal hernia, H...	OMIM:613658
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	OMIM:222300
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Failure to thrive, Leukemia, Increased mean c...	ORPHA:811
Lig4 Syndrome	Failure to thrive, Pancytopenia, Type II diabetes mellitus, Thrombocytopenia, Acute lymphoblastic...	OMIM:606593
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu...	ORPHA:90674
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Diabetes mel...	OMIM:616026
Mevalonic Aciduria	Failure to thrive, Fluctuating splenomegaly, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hip contracture	ORPHA:464321
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Griscelli Syndrome	Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality...	ORPHA:381
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Hyperammonemia, Neonatal death, Elevated circulating creatine kinase concentration,...	OMIM:620300
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Infantile Liver Failure Syndrome 2	Hyperammonemia, Hypoglycemia	OMIM:616483
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia	OMIM:611126
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Conjugated hyperbilirubinemia	ORPHA:168577
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration...	OMIM:614576
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Small for gestational age, Normochromic anemia, Elevated circulating creatine k...	OMIM:618775
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili...	ORPHA:567983
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Splenomeg...	OMIM:614700
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia	ORPHA:90673
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Umbilical hernia, Large for gestational age, Neutropenia, Thrombocytopenia, An...	OMIM:614520
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, H...	ORPHA:470
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Autoimmune Hepatitis	Splenomegaly, Increased total bilirubin	ORPHA:2137
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Liver Disease, Severe Congenital	Failure to thrive, Umbilical hernia, Increased circulating ferritin concentration, Leukopenia, Hy...	OMIM:619991
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia	OMIM:259700
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co...	ORPHA:3226
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-...	ORPHA:457077
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Isolated Biliary Atresia	Failure to thrive, Xanthelasma, Splenomegaly, Severe failure to thrive, Conjugated hyperbilirubin...	ORPHA:30391
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio...	ORPHA:77259
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Good Syndrome	Anemia, Diabetes mellitus, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes...	ORPHA:186
Shigellosis	Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Hypo...	ORPHA:810
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Ogden Syndrome	Polycythemia, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Iron deficiency anemia, Mate...	OMIM:300855
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia	OMIM:620423
Dubowitz Syndrome	Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia, Inguinal hernia	OMIM:223370
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreas...	ORPHA:1830
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Anemia...	OMIM:620376
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Failure to thrive, Elevated circu...	OMIM:614866
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia, Hyperam...	ORPHA:79282
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Caroli Disease	Weight loss, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis	ORPHA:53035
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Arthrogryposis ...	OMIM:301056
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Failure to thrive	OMIM:244450
Felty Syndrome	Cellulitis, Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Neutropenia, Thrombocytope...	ORPHA:47612
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Tularemia	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:3392
Reynolds Syndrome	Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Steatorrhea	OMIM:613471
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Failure to thrive, Hemophagocytosis, Increased circulati...	OMIM:222700
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia, Flexion contracture, Neonatal hypoglycemia	OMIM:616271
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neu...	OMIM:260400
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Smal...	OMIM:606003
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Flexion contrac...	OMIM:617303
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Camptodactyly of finger, Elbow flexion contracture, Decreased HDL cholesterol ...	OMIM:256040
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Thrombocytopenia, E...	OMIM:617718
Wilson Disease	Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thrombocytopenia, Anemia	ORPHA:905
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Bone Marrow Failure Syndrome 3	Aplastic anemia, Failure to thrive, Increased mean corpuscular volume, Persistence of hemoglobin ...	OMIM:617052
Prolidase Deficiency	Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:170100
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Decreased body weight, Anemia, Neutropenia, Thrombocytopenia, Elevate...	ORPHA:90051
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Bacterial Toxic-Shock Syndrome	Cellulitis, Hypoalbuminemia, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem...	ORPHA:36234
Castleman Disease	Anemia, Weight loss, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Dec...	ORPHA:160
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Senior-Boichis Syndrome	Anemia, Hepatosplenomegaly, Increased total bilirubin	ORPHA:84081
Degcags Syndrome	Failure to thrive, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Leukopenia, Hiatus herni...	OMIM:619488
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Hardikar Syndrome	Failure to thrive, Umbilical hernia, Hypersplenism, Hepatosplenomegaly, Hyperbilirubinemia, Splen...	OMIM:301068
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Immunodeficiency 22	Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia,...	OMIM:615758
Pearson Syndrome	Glycosuria, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemi...	ORPHA:699
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia...	OMIM:277400
Neuroblastoma	Anemia, Weight loss, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:635
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia	OMIM:218700
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia, Elevated hepatic iron concentration	OMIM:614946
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Braddock-Carey Syndrome 1	Camptodactyly, Enamel hypoplasia, Thrombocytopenia	OMIM:619980
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Hypercholestero...	OMIM:300972
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Increased mean platelet volume, Platelet anisocytosis, Thrombocytopenia, Umbilical hernia	OMIM:620475
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Splenomegaly, Er...	OMIM:612541
Pseudo-Torch Syndrome 1	Splenomegaly, Failure to thrive, Thrombocytopenia, Umbilical hernia	OMIM:251290
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Anemia, Sma...	OMIM:242900
Cranioectodermal Dysplasia 2	Splenomegaly, Hyperbilirubinemia, Inguinal hernia, Polysplenia	OMIM:613610
Porphyria, Congenital Erythropoietic	Joint contracture of the hand, Atypical scarring of skin, Elevated circulating uroporphyrin conce...	OMIM:263700
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Decreased eosinophil count	ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto...	ORPHA:79124
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane...	ORPHA:508542
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcification of dental enamel, Hemo...	ORPHA:169090
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Failure to thrive in infancy, Anemia, Thrombocytopenia, Camptodactyly	OMIM:611209
Hoyeraal-Hreidarsson Syndrome	Anemia, Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Neonatal death, Thrombocytopenia, Anemia...	OMIM:608013
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati...	ORPHA:99826
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Failure to thrive, Leukopenia, Pancytopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:600901
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Steatorrhea	OMIM:617941
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Failure to thrive, Obesity, Hyperbilirubinemia, Decreased body weight, Overweight	OMIM:619475
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Congenital Syphilis	Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:499009
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227650
Down Syndrome	Polycythemia, Umbilical hernia, Obesity, Type II diabetes mellitus, Acute megakaryocytic leukemia...	ORPHA:870
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia	ORPHA:96181
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Elevated circulating 7-dehydrocholestero...	OMIM:270400
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Flexion contrac...	OMIM:227645
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Failure to thrive, Elbow flexion contracture, Hyperbilirubinemia, K...	OMIM:210710
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Umbilical hernia, Lymphopenia, Obesity, Pancytopenia, Leukopenia, Inguinal hernia, Thrombocytopen...	OMIM:620654
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Pediatric-Onset Graves Disease	Splenomegaly, Thrombocytopenia, Failure to thrive, Neutropenia in presence of anti-neutropil anti...	ORPHA:525731
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Hernia, Thrombocytopenia, Anemia, Flexion contra...	ORPHA:505248
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Hemolytic anemia	OMIM:308230
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia	OMIM:620072
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ...	ORPHA:319213
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia, Diabe...	ORPHA:544482
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Farber Disease	Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Anemia, Flexion contracture	ORPHA:333
Noonan Syndrome 4	Large for gestational age, Thrombocytopenia	OMIM:610733
Atelis Syndrome 2	Anemia, Hyperinsulinemia, Thrombocytopenia	OMIM:620185
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec...	ORPHA:244242
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
21Q22.11Q22.12 Microdeletion Syndrome	Camptodactyly, Failure to thrive in infancy, Anemia, Thrombocytopenia	ORPHA:261323
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphoc...	ORPHA:391487
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Takenouchi-Kosaki Syndrome	Camptodactyly, Inguinal hernia, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Adams-Oliver Syndrome	Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Weight loss, Thrombocyt...	OMIM:615846
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:603467
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c...	ORPHA:2785
Deeah Syndrome	Neonatal hypoglycemia, Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619004
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hypersplenism,...	ORPHA:77293
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Bcard Syndrome	Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 3rd finger, C...	OMIM:612394
Lathosterolosis	Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Dyskeratosis Congenita	Splenomegaly, Thrombocytopenia, Anemia, Abnormality of neutrophils, Diabetes mellitus	ORPHA:1775
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:230900
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Aplasia of the thymus	OMIM:620186
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology...	ORPHA:534
Brucellosis	Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Weight loss, Th...	ORPHA:1304
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227646
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we...	ORPHA:340
Gaucher Disease	Splenic infarction, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Splen...	ORPHA:355
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Failure to thrive, Microcytic anemia, Splenomegaly, Inguinal hernia, Th...	OMIM:619525
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Anemia, Weight loss, Lymphocytosis, Neutropenia, Thrombocytopenia, Elev...	ORPHA:50918
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Q Fever	Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia	ORPHA:781
Johanson-Blizzard Syndrome	Failure to thrive, Hypocalcemia, Splenomegaly, Increased VLDL cholesterol concentration, Conjugat...	OMIM:243800
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Weight loss, Thrombocytopenia	ORPHA:36426
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Absence of subcutaneous fat, Thrombocyto...	OMIM:620005
Acute Liver Failure	Hypoglycemia, Hyperammonemia, Thrombocytopenia	ORPHA:90062
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ...	ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Enamel hypoplasia	OMIM:300896
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:537
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Truncal obesity, Limb joint contracture, Flexion contracture	OMIM:301072
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Multiple joint contractures, Chronic ly...	ORPHA:51
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
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Throm...	OMIM:122470
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Thrombocytopenia, Camptodactyly, Flexion contracture, Increased mean platelet vo...	ORPHA:487796
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Jacobsen Syndrome	Flexion contracture, Failure to thrive, Thrombocytopenia	OMIM:147791
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Failure to thrive, Umbilical hernia, Abnormal dental enamel morpholo...	ORPHA:567
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Fanconi Anemia	Umbilical hernia, Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine-responsive sidero...	ORPHA:84
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponat...	ORPHA:731
Sarcoidosis	Hemolytic anemia, Leukopenia, Increased T cell count, Scarring, Weight loss, Eosinophilia, Thromb...	ORPHA:797
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concen...	ORPHA:99827
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Cachexia, Thrombocytop...	ORPHA:2072
Digeorge Syndrome	Umbilical hernia, Obesity, Hypocalcemia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus,...	OMIM:188400
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:305000
Roberts Syndrome	Wrist flexion contracture, Progressive flexion contractures, Thrombocytopenia, Knee flexion contr...	ORPHA:3103
Jacobsen Syndrome	Inguinal hernia, Thrombocytopenia	ORPHA:2308
Systemic Lupus Erythematosus	Leukopenia, Weight loss, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphology, Inguinal hernia, ...	ORPHA:666
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss, Thrombocytopenia	ORPHA:79078
Noonan Syndrome 1	Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dcun1d3

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 Dcun1d3.

There are 3 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)	Dcun1d3^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dcun1d3^{em1(IMPC)Wtsi}	PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dcun1d3^em2Wtsi	PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dcun1d3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dcun1d3^{em1(IMPC)Wtsi}	Deletion	Mice
Dcun1d3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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