Gene Summary

chemokine (C-X-C motif) receptor 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Cxcr1tm1a(EUCOMM)Wtsi HOM Early adult 3.82×10-07
decreased bone mineral content Cxcr1tm1a(EUCOMM)Wtsi HOM Early adult 7.54×10-05
thrombocytopenia Cxcr1tm1a(EUCOMM)Wtsi HOM   Early adult 7.74×10-05
increased fasting circulating glucose level Cxcr1tm1a(EUCOMM)Wtsi HOM Early adult 7.10×10-05
increased circulating insulin level Cxcr1tm1a(EUCOMM)Wtsi HOM Early adult 0.00

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Viewing: all phenotypes

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.


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Forepaw

14 Images


XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Slit Lamp

2 Images

Anti-nuclear antibody assay


6 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology


8 Images

Ear epidermis immunophenotyping


12 Images

Human diseases caused by Cxcr1 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.

The table below shows human diseases associated to Cxcr1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Whim Syndrome 2
Chronic neutropenia OMIM:619407

The table below shows human diseases predicted to be associated to Cxcr1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Estrogen Resistance
Glucose intolerance, Osteopenia, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Ket... ORPHA:324575
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Delayed puberty, Delayed thelarche, Diabetes mellitus OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density OMIM:619489
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia OMIM:617441
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... ORPHA:280356
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... OMIM:231095
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Estrogen Resistance Syndrome
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal devel... ORPHA:785
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia, Diabetes mellitus, Dia... OMIM:598500
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... ORPHA:552
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... ORPHA:2298
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia ORPHA:67048
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycem... ORPHA:263455
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypogonadotropic hypogonadism, M... ORPHA:848
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabet... OMIM:301078
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Anemia, Thrombocytopenia ORPHA:673
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... OMIM:246200
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Progressive cla... OMIM:608612
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Osteoporosis, Macronodular adrenal hyperplasia, Increased u... OMIM:615954
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hyperinsulinemia, Hypoglycemia ORPHA:79237
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Bone cyst, Diabetes mellitus, Insulin resistance ORPHA:528
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Osteoporosis OMIM:614727
Thrombocytopenia 6
Thrombocytopenia, Osteoporosis, Myelofibrosis OMIM:616937
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... OMIM:139090
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopen... OMIM:259710
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia, Type I diabetes mellitus ORPHA:275555
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Osteolytic defe... ORPHA:2457
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Diabetes mellitus OMIM:249270
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidism, Type... OMIM:304790
Specific Granule Deficiency 2
Osteopenia, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Amed Syndrome, Digenic
Leukopenia, Adrenal hypoplasia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm... ORPHA:98850
Propionic Acidemia
Osteoporosis, Hypoglycemia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:606054
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Type I diabetes mellitus, Splenomegaly ORPHA:290
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test OMIM:618624
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Osteolysis, Autoimmune... ORPHA:100026
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Impaired glucose toleran... OMIM:248370
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... OMIM:222300
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Unicameral bone cyst ORPHA:79086
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Anemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Splenomegaly, Osteopenia, Osteoporosis, Insulin resistance OMIM:613327
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... ORPHA:71212
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Goiter, Thrombocytopenia ORPHA:83601
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Craniosynostosis, Osteopetrosis, Splenomegaly, Pancytopenia, Calv... OMIM:259700
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology ORPHA:229717
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Thrombocytopenia, Leukopenia, Diabetes mellitus OMIM:613845
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Anemia, Thrombocytopenia OMIM:611209
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Necrotizing Enterocolitis
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Thrombocytopenia, Hyperglycemia ORPHA:391673
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia ORPHA:27
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteolysis, Delayed puberty... ORPHA:77259
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio OMIM:150550
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Lig4 Syndrome
Hypothyroidism, Thrombocytopenia, Pancytopenia OMIM:606593
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly ORPHA:79312
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia OMIM:152700
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Pediatric-Onset Graves Disease
Graves disease, Neutropenia in presence of anti-neutropil antibodies, Craniosynostosis, Splenomeg... ORPHA:525731
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Anemia, Diabetes mellitus, Aplasia/Hypoplasia of the thym... ORPHA:169105
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Hypergonadotropic hypogonadism, Radial club hand, Leukopenia,... OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Hypothyroidism, Decreased proportio... OMIM:614700
Prader-Willi Syndrome
Adrenal insufficiency, Precocious puberty, Type II diabetes mellitus, Hyperinsulinemia, Decreased... OMIM:176270
Smith-Kingsmore Syndrome
Hypoglycemia, Thrombocytopenia OMIM:616638
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Thrombocytopenia, Pancytopenia OMIM:613987
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:151660
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Thrombocytopenia, Congenital adrenal hyperplasia ORPHA:96181
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Atypical Werner Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Increased bone mineral density, Reduced bone mineral... ORPHA:79474
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Osteolysis, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Cystic angiomatosis of bone, Elevated ... OMIM:269700
Thrombocytopenia ORPHA:370924
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Splenomegaly, Cystic angiomatosis of bone, Decreased serum leptin, Insulin-resi... OMIM:608594
Fetal Gaucher Disease
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia ORPHA:85212
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Thrombocytopenia, Splenomegaly OMIM:251880
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Osteopenia, Thrombocytopenia, Elevated circulating thyroid-stimulating ... OMIM:242900
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Decreased response to growth hormone stimulation ... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Decreased osteoclast count, Splenomegaly, Osteopetrosis, Extramed... OMIM:259720
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... ORPHA:391487
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Thrombocytopenia OMIM:613990
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Anemia, Thrombocytopenia OMIM:608104
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Adrenal calcification, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Griscelli Syndrome
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:381
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Increased circulating renin lev... ORPHA:508
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia ORPHA:2126
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia OMIM:614074
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Aplastic anemia, Osteoporosis, Anemia, Thrombocytopenia OMIM:127550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, T lymphocytopenia, Pancytopenia... ORPHA:79124
Transaldolase Deficiency
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:606003
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Shwachman-Diamond Syndrome 1
Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Overlap Myositis
Leukopenia, Thrombocytopenia, Diabetes mellitus ORPHA:206572
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Thrombocytopenia ORPHA:99901
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Gaucher Disease, Type I
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Fanconi Anemia, Complementation Group E
Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... OMIM:600901
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia ORPHA:449285
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Type I di... OMIM:557000
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Hepatoportal Sclerosis
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:64743
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251110
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Thrombocytopenia, Decreased proportion of ... ORPHA:1830
Fanconi Anemia, Complementation Group A
Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... OMIM:227650
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD... OMIM:608233
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia, Osteoporosis OMIM:224230
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia OMIM:277380
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Cyclic Neutropenia
Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count ORPHA:2686
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251100
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Tenorio Syndrome
Hypoglycemia, Osteopenia, Hypoinsulinemia OMIM:616260
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Craniosynostosis OMIM:301056
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:274150
Gaucher Disease Type 3
Increased bone mineral density, Splenomegaly, Osteolysis, Delayed puberty, Pancytopenia, Anemia, ... ORPHA:77261
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Anemia, Thrombocytopenia ORPHA:79325
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Thrombocytopenia, Aplastic anemia, Hypogonadism OMIM:300514
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Wiskott-Aldrich Syndrome
Neutropenia, Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal plat... ORPHA:906
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Thrombocytopenia, Splenomegaly, Diabetes insipidus OMIM:225750
Abnormal bone ossification, B lymphocytopenia, Recurrent hypoglycemia, Thrombocytopenia, Decrease... ORPHA:79324
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Thrombocytopenia OMIM:208085
Fanconi Anemia, Complementation Group C
Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... OMIM:227645
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... OMIM:603553
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... OMIM:610377
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Osteolysis, Anemia, Thrombocytopenia ORPHA:464329
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:267700
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... ORPHA:99226
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Porphyria, Congenital Erythropoietic
Splenomegaly, Osteopenia, Hemolytic anemia, Osteolysis, Thrombocytopenia OMIM:263700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Anemia, Thrombocytopenia, Osteoporosis OMIM:612199
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Splenic abscess, Leukocytosis, Hypoglycemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:810
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemic rickets, Thrombocytopenia OMIM:619743
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Farber Disease
Anemia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly ORPHA:333
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Thrombocytopenia OMIM:612394
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly OMIM:617591
Dyskeratosis Congenita
Splenomegaly, Anemia, Osteoporosis, Abnormality of neutrophils, Diabetes mellitus, Coarse metaphy... ORPHA:1775
Wilson Disease
Hypoparathyroidism, Splenomegaly, Glycosuria, Osteoporosis, Osteomalacia, Hemolytic anemia, Anemi... OMIM:277900
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Myelofibrosis ORPHA:160
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Fanconi Anemia, Complementation Group F
Anemia, Thrombocytopenia, Decreased response to growth hormone stimulation test, Leukopenia OMIM:603467
Congenital Erythropoietic Porphyria
Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi... ORPHA:79277
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia ORPHA:464343
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Leukocytosis, Coronal craniosynostosis, Polycythemia, Impaired neu... ORPHA:2968
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Neutropenia, Decreased response to growth hormone stim... ORPHA:699
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:608013
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Hepatocellular Carcinoma
Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Anemia, Thrombocytopenia ORPHA:88673
Deeah Syndrome
Decreased response to growth hormone stimulation test, Decreased hemoglobin concentration, Decrea... OMIM:619004
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Fibular Hemimelia
Thrombocytopenia, Abnormal bone ossification, Craniosynostosis ORPHA:93323
Fanconi Anemia, Complementation Group D2
Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... OMIM:227646
Lysinuric Protein Intolerance
Hemophagocytosis, Splenomegaly, Leukopenia, Osteoporosis, Anemia, Thrombocytopenia OMIM:222700
Hypothyroidism, Hepatosplenomegaly, Thrombocytopenia, Inappropriate antidiuretic hormone secretion ORPHA:79330
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Osteolysis involving bones of the lower limbs, Osteolysis, Osteolysis involving... ORPHA:464321
Chronic Visceral Acid Sphingomyelinase Deficiency
Splenomegaly, Acute promyelocytic leukemia, Osteopenia, Autoimmune thrombocytopenia, Osteoporosis... ORPHA:77293
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia ORPHA:79282
Gaucher Disease
Increased bone mineral density, Splenomegaly, Osteopenia, Abnormal bone structure, Osteolysis, De... ORPHA:355
Osteopetrosis With Renal Tubular Acidosis
Secondary hyperparathyroidism, Osteopetrosis, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, T... ORPHA:2785
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Lymphopenia, Craniosynostosis, Severe B lymphocytopenia, Accessory spleen, Hypothyroidism, Anemia... OMIM:620005
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Myelofibrosis, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophili... ORPHA:3260
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Dubowitz Syndrome
Hypoparathyroidism, Craniosynostosis, Thrombocytopenia, Abnormality of neutrophils, Anemia, Acute... ORPHA:235
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia... ORPHA:447
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia ORPHA:36234
Lujo Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia, Leukocytosis ORPHA:319213
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Thrombocytopenia OMIM:301050
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Immunodeficiency 47
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Thrombocytopenia OMIM:300972
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly ORPHA:505248
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Q Fever
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly ORPHA:781
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Osteoporosis, Microcytic anemia, Type I diabetes mellitus, Anemia, Thrombocytopenia OMIM:619525
Liver Disease, Severe Congenital
Hyperinsulinemic hypoglycemia, Lymphocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:619991
Aicardi-Goutieres Syndrome 7
Splenomegaly, Hypothyroidism, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:615846
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis, Diabetes mellitus ORPHA:544482
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Fanconi Anemia
Reduced bone mineral density, Abnormality of the hypothalamus-pituitary axis, Leukopenia, Hypogon... ORPHA:84
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Marburg Hemorrhagic Fever
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Hypoglycemia, Neutrophilia in presence o... ORPHA:99826
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Anemia, Osteomalacia, Delayed puberty, Hyper... ORPHA:534
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hemophagocytosis, Osteopenia, Hepatospleno... ORPHA:470
Tick-Borne Encephalitis
Leukopenia, Thrombocytopenia, Leukocytosis ORPHA:297
Hardikar Syndrome
Splenomegaly, Hepatosplenomegaly, Osteoporosis, Thrombocytopenia, Impaired growth-hormone respons... OMIM:301068
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:36426
Dyskeratosis Congenita, X-Linked
Leukopenia, Osteoporosis, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:305000
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Abnormality of the endocrine system, Thrombocytopenia ORPHA:487796
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Splenomegaly OMIM:301072
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Ogden Syndrome
Polycythemia, Thrombocytopenia, Maternal diabetes, Iron deficiency anemia OMIM:300855
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Mult... ORPHA:567
Nijmegen Breakage Syndrome
Hemolytic anemia, Acute leukemia, Thrombocytopenia, Autoimmune hemolytic anemia ORPHA:647
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Caroli Syndrome
Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism ORPHA:480520
Tangier Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:31150
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Primary Sjögren Syndrome
Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... OMIM:619573
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Delayed puberty, Pancytopenia, Anemi... ORPHA:2072
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism ORPHA:1304