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Gene: Cxcr1 MGI:2448715

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Gene Summary

Name:
C-X-C motif chemokine receptor 1
Synonyms:
Il8ra

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype 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
increased circulating insulin level Cxcr1tm1a(EUCOMM)Wtsi HOM Early adult 0.00
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

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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.

Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Ear epidermis immunophenotyping

Images

12 Images

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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
phenotypes		 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
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration OMIM:620478
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Osteoporosis, Diabetes mellitus OMIM:616033
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Fasting hyperinsulinemia OMIM:619489
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
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
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... OMIM:615363
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... OMIM:598500
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... ORPHA:2298
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia ORPHA:67048
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Pancreatic isle... ORPHA:263455
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia, Anemia OMIM:620365
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Malaria
Anemia, Thrombocytopenia ORPHA:673
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadism, Thrombocytop... ORPHA:848
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Galactokinase Deficiency
Hepatosplenomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia ORPHA:79237
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:301078
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Acroos... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Thrombocytopenia OMIM:614727
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Diabetes mellitus ORPHA:528
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... OMIM:187900
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Osteopetros... OMIM:259710
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, A... ORPHA:2457
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia OMIM:249270
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... OMIM:304790
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Propionic Acidemia
Hypoglycemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Osteoporosis OMIM:606054
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia OMIM:619151
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Congenital Rubella Syndrome
Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia ORPHA:290
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Splenomegaly, Osteoporosis OMIM:613327
Atelis Syndrome 1
Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia OMIM:620184
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Progressive cla... OMIM:248370
Sengers Syndrome
Osteopenia, Thrombocytopenia OMIM:212350
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Unicameral bone cyst, Insulin-resistant diabetes mellitus ORPHA:79086
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia, Myelofibrosis, Elevated... ORPHA:457077
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus OMIM:613845
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Atelis Syndrome 2
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... OMIM:620185
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Osteopetrosis, Thrombocytopenia, Calvarial osteosclerosis, Anemia, Cr... OMIM:259700
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Adrenal insufficiency, Adrenal hypoplasi... OMIM:617053
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism... OMIM:614700
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Pediatric-Onset Graves Disease
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... ORPHA:525731
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Lig4 Syndrome
Pancytopenia, Type II diabetes mellitus, Hypothyroidism, Thrombocytopenia, Acute lymphoblastic le... OMIM:606593
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Prader-Willi Syndrome
Precocious puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsul... OMIM:176270
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombocytopenia ORPHA:96181
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Decreased circulating T4 concentration, Hypothyroidism, Thrombocytopenia OMIM:608104
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia ORPHA:275555
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Decreased response to... ORPHA:3464
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia ORPHA:391673
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Smith-Kingsmore Syndrome
Hypoglycemia, Thrombocytopenia OMIM:616638
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Lipodystrophy, Familial Partial, Type 2
Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Schimke Immunoosseous Dysplasia
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Lymphopenia, Pancytop... OMIM:242900
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Sple... ORPHA:77259
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Tularemia
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Cystic angiomatosis of bone, Elevated ... OMIM:269700
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia, Osteoporosis OMIM:613989
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Cystic angiomatosis of bone, Diabetes mel... OMIM:608594
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Osteolysis ORPHA:47612
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocyt... OMIM:613990
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Leukocytosi... OMIM:259720
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemi... ORPHA:391487
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume, Hypopituitaris... ORPHA:811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Cholesteryl Ester Storage Disease
Adrenal calcification, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Adrenal insuf... OMIM:278000
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Griscelli Syndrome
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia ORPHA:381
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia ORPHA:449285
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Thrombocytopenia ORPHA:99901
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia OMIM:616271
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Von Willebrand Disease
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Overlap Myositis
Leukopenia, Diabetes mellitus, Thrombocytopenia ORPHA:206572
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Osteopenia, Giant platelets, Thrombocytopenia OMIM:611209
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... OMIM:600901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Re... OMIM:557000
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:614576
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Abnormality of thyroid physiology, Decreas... ORPHA:1830
Congenital Syphilis
Periostitis, Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, An... ORPHA:499009
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Leukopenia, Thrombocytopenia OMIM:301056
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:294
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... OMIM:227650
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A... OMIM:603553
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr... ORPHA:906
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Wilson Disease
Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Hypothyroidism, Splenomegaly, Thrombocytopenia OMIM:225750
Fanconi Anemia, Complementation Group B
Hypogonadism, Aplastic anemia, Hypergonadotropic hypogonadism, Thrombocytopenia OMIM:300514
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Alg12-Cdg
Recurrent hypoglycemia, Decreased serum insulin-like growth factor 1, B lymphocytopenia, Abnormal... ORPHA:79324
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ... OMIM:610377
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Delayed puberty, Thrombocytopenia, Anemia, Increased bone mineral den... ORPHA:77261
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia OMIM:277380
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:267700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Splenomegaly, Thrombocytopenia OMIM:251880
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Thrombocytopenia OMIM:620423
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:617303
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:99413
Turner Syndrome
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:881
Mosaic Monosomy X
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:99228
Monosomy X
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:99226
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:93552
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... OMIM:227645
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced circulating growth hormone conce... OMIM:620654
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Hoyeraal-Hreidarsson Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia, Osteolysis ORPHA:464329
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Thrombocytopenia OMIM:208085
Neuroblastoma
Anemia, Elevated circulating catecholamine level, Thrombocytopenia ORPHA:635
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Castleman Disease
Anemia, Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Bcard Syndrome
Osteopenia, Thrombocytopenia OMIM:612394
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Down Syndrome
Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Delayed puberty, Hyperthy... ORPHA:870
Shigellosis
Hypoglycemia, Microangiopathic hemolytic anemia, Leukocytosis, Splenic abscess, Thrombocytopenia ORPHA:810
Dyskeratosis Congenita
Coarse metaphyseal trabecularization, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis, Abnor... ORPHA:1775
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Farber Disease
Anemia, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia ORPHA:333
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemic rickets, Thrombocytopenia OMIM:619743
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... OMIM:619004
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia OMIM:617591
Porphyria, Congenital Erythropoietic
Osteopenia, Splenomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinogen III cosynthase a... OMIM:263700
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Osteopenia, Osteoporosis, Thrombocytopenia OMIM:612199
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:603467
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm... ORPHA:79277
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Mogs-Cdg
Hepatosplenomegaly, Hypothyroidism, Inappropriate antidiuretic hormone secretion, Thrombocytopenia ORPHA:79330
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Pancytopenia, Adrenal insuffic... ORPHA:699
Gaucher Disease, Perinatal Lethal
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:608013
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Thr... ORPHA:464321
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Fibular Hemimelia
Craniosynostosis, Abnormal bone ossification, Thrombocytopenia ORPHA:93323
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... OMIM:227646
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis OMIM:222700
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leu... ORPHA:2968
Dubowitz Syndrome
Hypoparathyroidism, Thrombocytopenia, Anemia, Craniosynostosis, Abnormality of neutrophils, Acute... ORPHA:235
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Lujo Hemorrhagic Fever
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:319213
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Lathosterolosis
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Hypothyroidism, Thrombocytopenia, Anemia... OMIM:620005
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Decreased serum insulin-like growth factor 1, Delayed pu... ORPHA:77293
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Gaucher Disease
Splenic infarction, Osteopenia, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Delayed ... ORPHA:355
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyt... ORPHA:447
Wilson Disease
Glycosuria, Osteomalacia, Hypoparathyroidism, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosi... OMIM:277900
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Thrombocytopenia OMIM:301050
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia ORPHA:36234
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytopenia, Elliptocytosis, Anemia, Secondary hype... ORPHA:2785
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Lymphocytosis, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Abnorma... OMIM:619991
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia OMIM:300972
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis OMIM:619525
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Hypothyroidism, Thrombocytopenia, Anemia, Hemolytic anemia OMIM:615846
Q Fever
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:781
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Thrombocytopenia ORPHA:36426
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Ost... ORPHA:534
Lysinuric Protein Intolerance
Osteopenia, Hemophagocytosis, Decreased response to growth hormone stimulation test, Leukopenia, ... ORPHA:470
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
Fanconi Anemia
Hypogonadism, Leukopenia, Thrombocytopenia, Anemia, Reduced bone mineral density, Abnormality of ... ORPHA:84
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoglycemia, Lymphopenia, Abnormal lymphocyte morphology,... ORPHA:99826
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Osteoporosis OMIM:305000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Impaired growth-hormone response to glucagon sti... OMIM:301068
Ogden Syndrome
Iron deficiency anemia, Maternal diabetes, Polycythemia, Thrombocytopenia OMIM:300855
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Nijmegen Breakage Syndrome
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia ORPHA:647
Caroli Syndrome
Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Multiple suture craniosynostosis, Splenomegaly, Hypoplasia of the th... ORPHA:567
Primary Sjögren Syndrome
Normocytic anemia, Thyroiditis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive hel... ORPHA:289390
Tangier Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:31150
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... OMIM:620376
Osteogenesis Imperfecta
Osteopenia, Abnormal cortical bone morphology, Decreased skull ossification, Thrombocytopenia, Os... ORPHA:666
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Microcytic anemia, Splenomegaly, ... OMIM:256040
Sarcoidosis
Leukopenia, Bone cyst, Increased T cell count, Eosinophilia, Hypothyroidism, Abnormality of the a... ORPHA:797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Delayed puberty, Throm... ORPHA:2072
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia ORPHA:1304
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia ORPHA:163979
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Hypothyroid... ORPHA:51
Hemorrhagic Fever-Renal Syndrome
Anemia, Leukocytosis, Thrombocytopenia ORPHA:340
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Adrenal insufficiency, Thrombocytopenia, Ne... ORPHA:99827
Roberts Syndrome
Craniosynostosis, Thrombocytopenia ORPHA:3103
Pmm2-Cdg
Insulin resistance, Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, I... ORPHA:79318
Acute Liver Failure
Hypoglycemia, Adrenal insufficiency, Thrombocytopenia ORPHA:90062
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Digeorge Syndrome
Parathyroid hypoplasia, Splenomegaly, Hypoplasia of the thymus, Parathyroid agenesis, Hypothyroid... OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis
Thyroiditis, Nodular goiter, Thrombocytopenia ORPHA:79078
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism ORPHA:731
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia ORPHA:99829
Noonan Syndrome 1
Hypogonadism, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950
Leptospirosis
Thrombocytopenia ORPHA:509
Whim Syndrome 2
Chronic neutropenia OMIM:619407

Histopathology

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

There is no histopathology data for Cxcr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cxcr1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cxcr1tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cxcr1tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cxcr1tm1a (EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cxcr1tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cxcr1tm1a (EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Cxcr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cxcr1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cxcr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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