Gene Summary

Name:
ankyrin repeat and SOCS box-containing 1
Synonyms:
1700054C17Rik,  1700029O08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Asb1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Asb1em1(IMPC)Ccpcz HOM   Early adult 8.70×10-06
decreased circulating chloride level Asb1em1(IMPC)Ccpcz HOM   Early adult 1.53×10-05
increased CD4-positive NK T cell number Asb1em1(IMPC)Ccpcz HOM   Early adult 7.92×10-05
enlarged spleen Asb1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Asb1em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Asb1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Asb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... OMIM:620010
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... OMIM:616278
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Hypoplastic spl... OMIM:617053
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia OMIM:230350
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hypercholesterolemia, Hypertri... OMIM:612526
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg... OMIM:616828
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, E... OMIM:615234
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... OMIM:613490
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level OMIM:612126
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... OMIM:618892
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice ORPHA:75234
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... OMIM:608885
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Th... ORPHA:848
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... OMIM:602347
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Abnormality of the ... ORPHA:1414
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... OMIM:226990
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Hepatome... ORPHA:507
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Microvesicu... ORPHA:275761
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... ORPHA:457077
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach... OMIM:607765
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Renal Hypoplasia, Bilateral
Hyponatremia, Anemia, Hyperkalemia ORPHA:97362
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Pearson Syndrome
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... ORPHA:699
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:613027
Tangier Disease
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Left ... OMIM:205400
Hemochromatosis, Type 1
Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ... OMIM:235200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Liddle Syndrome
Hypokalemia ORPHA:526
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru... ORPHA:294
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,... OMIM:613812
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri... ORPHA:77259
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice... OMIM:613095
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... OMIM:210250
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Cholelithiasis, Premature ovarian insufficiency, Chronic active hepatitis, Hyp... OMIM:240300
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hyperammonemia, Hepatome... OMIM:618641
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin... ORPHA:95409
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... ORPHA:829
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Jaundice, Hyperkalemia ORPHA:90790
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227990
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro... ORPHA:288
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Addison Disease
Normocytic anemia, Thymoma, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia... ORPHA:85138
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkal... ORPHA:544482
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... OMIM:251880
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227982
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Hepatic steatosis, Splenomegaly, Portal hyperte... ORPHA:567983
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E... OMIM:611881
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pure red cell aplasia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic ane... OMIM:613179
Ciliary Dyskinesia, Primary, 1
Asplenia, Male infertility OMIM:244400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... ORPHA:309854
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia,... OMIM:617591
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale... OMIM:619377
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Cystinosis
Hypokalemia, Hypophosphatemia, Portal hypertension ORPHA:213
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Elevated circulating cr... OMIM:615895
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex... OMIM:300972
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Hyperbilirubinemia, Increased serum bile acid concentrati... OMIM:227810
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, M... OMIM:620565
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy ORPHA:251274
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Ascites, Cervical lymphadenopathy, Autoimmune ... OMIM:619573
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Meckel Syndrome
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, True hermaphroditism, Male pseudoh... ORPHA:564
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... ORPHA:30391
Apparent Mineralocorticoid Excess
Hypokalemia, Left ventricular hypertrophy, Decreased circulating renin level ORPHA:320
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato... OMIM:613471
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Glycogen Storage Disease Ib
Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Neutropenia, Pancreatic fibrosis, Hepa... OMIM:232220
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei... ORPHA:29073
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Left ventricular hypertrophy, Decreased circulating renin level OMIM:615474
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Hepatomegaly, Peritonitis, Elevated circulating amyloid A concentrati... OMIM:249100
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Vipoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi... ORPHA:97282
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hypersplenism, Hepatosplenomegaly, P... ORPHA:731
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Tyrosinemia, Type I
Hypermethioninemia, Ascites, Hypophosphatemic rickets, Splenomegaly, Pancreatic islet-cell hyperp... OMIM:276700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Vaginal atresia, Asplenia, Hypoplasia of the f... OMIM:273395
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Ambiguous ... OMIM:249000
Granulomatous Disease, Chronic, X-Linked
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha... OMIM:306400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... ORPHA:565612
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Mercury Poisoning
Hypokalemia ORPHA:330021
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Exocrine pancreatic insufficiency,... OMIM:219800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration... ORPHA:77293
Feingold Syndrome 1
Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia OMIM:306955
Rabson-Mendenhall Syndrome
Hypokalemia, Enlarged ovaries, Increased C-peptide level ORPHA:769
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Asplenia, Bicornuate uterus, Hypospadias OMIM:265380
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Neoplasm of t... ORPHA:358
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Thrombocytopeni... ORPHA:534
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Leprechaunism
Hypokalemia, Enlarged ovaries, Hepatomegaly, Enlarged kidney, Increased circulating renin level ORPHA:508
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Asplenia, Hydro... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Oligomenorrhea, Micropenis,... ORPHA:2152
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Asplenia, Hydro... ORPHA:261552
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Cystocele ORPHA:286

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 Asb1

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 Asb1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Asb10tm2b(KOMP)Wtsi PMC5503261

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Asb1em1(IMPC)Ccpcz Whole-gene deletion Mice
Asb1tm373714(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Asb1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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