Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Dcun1d3em1(IMPC)Wtsi HOM   Early adult 6.10×10-05
increased circulating bilirubin level Dcun1d3em1(IMPC)Wtsi HOM Early adult 1.33×10-18
decreased circulating glucose level Dcun1d3em1(IMPC)Wtsi HOM Early adult 2.26×10-08
decreased total body fat amount Dcun1d3em1(IMPC)Wtsi HOM Early adult 6.45×10-05
decreased fasting circulating glucose level Dcun1d3em1(IMPC)Wtsi HOM Early adult 8.75×10-11
decreased circulating HDL cholesterol level Dcun1d3em1(IMPC)Wtsi HOM Early adult 5.78×10-10
increased red blood cell distribution width Dcun1d3em1(IMPC)Wtsi HOM Early adult 1.48×10-06
preweaning lethality, incomplete penetrance Dcun1d3em1(IMPC)Wtsi HOM   Early adult 0.00
improved glucose tolerance Dcun1d3em1(IMPC)Wtsi HOM Early adult 1.02×10-05
increased lean body mass Dcun1d3em1(IMPC)Wtsi HOM Early adult 2.23×10-05
decreased circulating cholesterol level Dcun1d3em1(IMPC)Wtsi HOM Early adult 2.15×10-09
increased circulating alkaline phosphatase level Dcun1d3em1(IMPC)Wtsi HOM Early adult 2.32×10-05

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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.

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... OMIM:612526
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... OMIM:603552
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu... OMIM:615160
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia OMIM:609734
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia, Small ... ORPHA:275555
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... ORPHA:1667
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Amelogen... OMIM:614727
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Vacuolated lymphocytes OMIM:269920
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp... OMIM:227810
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... OMIM:616050
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... ORPHA:73272
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F... OMIM:251000
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:235555
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly OMIM:604273
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... ORPHA:101028
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... OMIM:617156
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Propionic Acidemia
Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Failu... OMIM:606054
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane... OMIM:614857
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... ORPHA:507
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... ORPHA:348
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... OMIM:617093
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... ORPHA:79277
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... ORPHA:99901
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level ORPHA:95715
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Neonatal hyperbilirubinemia ORPHA:95717
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... ORPHA:79237
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thrive, Anemia ORPHA:79312
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive, Glycosuria OMIM:613404
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... OMIM:618048
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Thrombocytopenia, Camptodactyly OMIM:619751
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... OMIM:608836
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Camptodactyly, B lymphocytopenia, Hypoalbuminemia, Abnormal... ORPHA:79324
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Decr... ORPHA:14
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Overlap Myositis
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Abnormality of... ORPHA:206572
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Wt Limb-Blood Syndrome
Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:601847
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia ORPHA:27
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia OMIM:214950
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Fai... OMIM:208085
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilir... ORPHA:39812
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Neonatal d... OMIM:608104
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Thrombocytopenia ORPHA:141184
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia OMIM:618810
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:211600
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... ORPHA:391673
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia... OMIM:617591
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Isolated Agammaglobulinemia
Failure to thrive, Abnormality of neutrophils, Thrombocytopenia, Cellulitis, Abnormal lymphocyte ... ORPHA:229717
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Steatorrhea,... OMIM:212065
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Decreased body weight OMIM:614886
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251110
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:613812
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus ORPHA:290
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... OMIM:277380
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia, Am... OMIM:617475
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbirth, Neonatal ... ORPHA:85212
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Mirage Syndrome
Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hy... OMIM:617053
X-Linked Agammaglobulinemia
Neutropenia, Weight loss, Anemia, Hypocalcemia, Cellulitis, Failure to thrive, Thrombocytopenia ORPHA:47
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... OMIM:301078
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia OMIM:615085
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia ORPHA:69665
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Polycythemia, Hyperbilirubinemia OMIM:606812
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:619151
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age OMIM:616638
Alg8-Cdg
Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Anemia, Camptoda... ORPHA:79325
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Neonatal death, Increased circulating very long-chain fatty acid c... OMIM:614887
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Cystic Echinococcosis
Weight loss, Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Fructose Intolerance, Hereditary
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Fa... OMIM:229600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive OMIM:614736
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251100
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Weight loss ORPHA:79242
Lig4 Syndrome
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,... OMIM:606593
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri... ORPHA:90674
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Inguinal hernia, Hypoglycemia, Small for gestational age, Hypoalbuminemia, Hypocalc... OMIM:613658
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Caroli Syndrome
Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm... ORPHA:480520
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T... ORPHA:381
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Small for gestational age, Elevated circulating creatine kinase concentratio... OMIM:618775
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Enamel hypoplasia... OMIM:614576
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... OMIM:620300
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ... ORPHA:567983
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Hypophosphatemia, Glyco... OMIM:616026
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia OMIM:259700
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... OMIM:614520
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... ORPHA:470
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Liver Disease, Severe Congenital
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... OMIM:619991
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration OMIM:301054
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Shigellosis
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Abnormal blood ion concen... ORPHA:810
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Caroli Disease
Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal circulating alph... ORPHA:53035
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proport... ORPHA:1830
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia ORPHA:169105
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Dubowitz Syndrome
Acute lymphoblastic leukemia, Inguinal hernia, Aplastic anemia, Hypocholesterolemia OMIM:223370
Isolated Biliary Atresia
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma, Severe failu... ORPHA:30391
Ogden Syndrome
Inguinal hernia, Maternal diabetes, Iron deficiency anemia, Minimal subcutaneous fat, Hyperbiliru... OMIM:300855
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Hyperammonemia, El... ORPHA:79282
Sengers Syndrome
Thrombocytopenia OMIM:212350
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Felty Syndrome
Splenomegaly, Cellulitis, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Throm... ORPHA:47612
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... OMIM:614866
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Elevated circulating creatine kinase concentration, Leukopenia, Arthro... OMIM:301056
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P... OMIM:260400
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... ORPHA:199299
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Flexion contracture, Leukopenia, Neutropenia, Neonatal hypoglycemia OMIM:616271
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... OMIM:222700
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Flexion contracture, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytop... OMIM:617303
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr... OMIM:606003
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Reynolds Syndrome
Calcinosis, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia OMIM:613471
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... OMIM:256040
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Wilson Disease
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia ORPHA:905
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Thrombocytopeni... ORPHA:90051
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029