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Gene: Klk8 MGI:1343327

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Gene Summary

Name:
kallikrein related-peptidase 8
Synonyms:
BSP1,  Prss19,  Nrpn

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
abnormal kidney morphology Klk8em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Klk8em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Klk8em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lymphocyte cell number Klk8em1(IMPC)Ccpcz HOM Early adult 1.22×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Klk8 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 Klk8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Trimethylaminuria
Splenomegaly, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia OMIM:247800
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria ORPHA:882
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Hepatomegaly, Nephropathy, Lymphadenopath... ORPHA:100024
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg... OMIM:616217
Galactosemia Iii
Jaundice, Galactosuria, Hepatomegaly, Aminoaciduria, Splenomegaly OMIM:230350
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:79238
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Amyloidosis, Familial Visceral
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly OMIM:105200
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenome... OMIM:150550
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... OMIM:300853
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly OMIM:620010
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... OMIM:619375
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Methylmalonic aciduria, Thrombocytopenia, Pancytopenia, Neutrop... ORPHA:859
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Lymphadenitis, Lymphopenia, Impaired... OMIM:618986
Immunodeficiency 95
Lymphopenia OMIM:619773
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Harderoporphyria
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... OMIM:618892
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy... ORPHA:277
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites ORPHA:1046
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, G... OMIM:618935
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Splenomegaly OMIM:300635
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Leukopenia, Splenomegaly OMIM:620210
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools OMIM:619868
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Anemia, Increased proportion of e... OMIM:619824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Abnormal renal physiology, Hemophagocytosis, Anemia... ORPHA:158057
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:56425
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... OMIM:308240
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... OMIM:242700
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Reticulocytosis, Leukocytosis, Heinz ... OMIM:300908
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis ORPHA:75234
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... OMIM:603903
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... OMIM:615234
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Cirrhosis OMIM:613490
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... OMIM:618849
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231000
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... ORPHA:86843
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... ORPHA:848
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Neuraminidase Deficiency
Vacuolated lymphocytes, Proteinuria, Bone-marrow foam cells, Hepatomegaly, Urinary excretion of s... OMIM:256550
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia ORPHA:163596
Immunodeficiency 44
Lymphopenia OMIM:616636
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia ORPHA:98375
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Joubert Syndrome 33
Splenomegaly OMIM:617767
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly, Anemia OMIM:618107
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... OMIM:613673
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Hemochromatosis, Type 3
Neutropenia, Lymphopenia, Cirrhosis, Anemia OMIM:604250
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia, ... OMIM:619767
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... OMIM:278000
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... OMIM:616100
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Wolman Disease
Bone-marrow foam cells, Anemia, Hepatomegaly, Splenomegaly, Ascites ORPHA:75233
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia OMIM:616589
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Decreased eosinophil count, Lymphop... ORPHA:2686
Omenn Syndrome
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Eosinophi... ORPHA:39041
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... OMIM:263200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... OMIM:612714
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... ORPHA:231222
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... OMIM:619510
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Biliary cirrhosis, Stage 5 chronic kidney disease, Enlarged kidney, ... OMIM:208540
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Thrombocyt... ORPHA:158061
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... OMIM:211600
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... ORPHA:2442
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Increased hepatic glycogen content OMIM:613027
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... OMIM:600802
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Spleno... ORPHA:90033
Gaucher Disease Type 1
Proteinuria, Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Thrombocytop... ORPHA:77259
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Cholestasis, Abnormality of the liver, Anemia, Hepatomegaly, T... ORPHA:398124
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:619183
Adult-Onset Still Disease
Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Hepatitis, ... ORPHA:829
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Aminoaciduria, Splenomegaly, Orotic acid cryst... ORPHA:30
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosis, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Caroli Disease
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... OMIM:613812
Budd-Chiari Syndrome
Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Cholecystitis, Splenomegaly,... ORPHA:131
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Gaucher Disease, Type I
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:230800
Legionnaires Disease
Proteinuria, Jaundice, Pancreatitis, Renal insufficiency, Bone marrow hypocellularity, Lymphopeni... ORPHA:549
Macrocephaly/Autism Syndrome
Penile freckling, Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Acute leukemia ORPHA:3318
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Autoimmune thrombocytope... OMIM:102700
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Hepatomegaly, Lymphopenia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:617591
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Reticulocytosis, Lymphopenia, ... ORPHA:3261
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Sideroblastic anemia, B lymphocytopenia, Aminoaciduria, Hypochromic microcytic ... OMIM:616084
Immunodeficiency 55
Absent natural killer cells, Lymphadenopathy, Lymphopenia, Neutropenia OMIM:617827
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Multiple renal cysts, Ab... ORPHA:464329
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... OMIM:613179
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired... OMIM:214500
Infantile Liver Failure Syndrome 3
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:618641
Nephrotic Syndrome, Type 14
Proteinuria, Diffuse mesangial sclerosis, Micropenis, Stage 5 chronic kidney disease, Lymphopenia... OMIM:617575
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Cirrhosis, Splenomegaly, Hepatitis, Thrombocyt... OMIM:308230
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Peritoneal effusion, Lymphopenia, Abnormal ... ORPHA:90362
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hepatomegaly, Abnormal natural killer cell count, Thrombocytopenia, Pan... ORPHA:158048
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... ORPHA:35078
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... ORPHA:822
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233710
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hydronephrosis, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leuk... OMIM:612541
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... OMIM:607626
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233690
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... OMIM:232220
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis, Lymphadenopathy, Elevated ... OMIM:260920
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Thrombocytopenia, Increased mean platelet volume, Splenomegaly OMIM:153670
Glycogen Storage Disease Xii
Jaundice, Normocytic anemia, Anemia, Hepatomegaly, Cholecystitis, Normochromic anemia, Nonspheroc... OMIM:611881
Common Variable Immunodeficiency
Hemolytic anemia, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia, Lymphadenop... ORPHA:1572
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Microphallus, Anemia, Lymphopenia, Thrombocytopenia, Hypospadias OMIM:617053
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... OMIM:210250
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Impaired lymphocyte transformation with phytohemag... OMIM:243150
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity, Lymphopenia, Cirrhosis, Increas... OMIM:127550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Hepatic fibrosis, He... OMIM:610199
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Leukocytosis, Leukopenia, Anemia, Bone marrow hypocellularity, Hepatomegaly, ... OMIM:615688
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Reduced renal cort... ORPHA:731
Isolated Biliary Atresia
Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Prolonged neon... ORPHA:30391
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Granulomatosis, Impaired oxidative burst, Granuloma, Lymphadenitis, Hepatomegaly, ... OMIM:306400
Gaucher Disease, Type Iiic
Cardiomegaly, Pancytopenia, Hepatomegaly, Splenomegaly OMIM:231005
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Reticulocytopenia, Thrombocytopenia... ORPHA:508542
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal hypertension, Hepatic steatosis, Bili... ORPHA:567983
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Functional abnormality ... ORPHA:391487
Syndromic Diarrhea
Hypoplasia of the thymus, Polycystic kidney dysplasia, Abnormality of the liver, Hepatic fibrosis... ORPHA:84064
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Tyrosinemia, Type I
Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Renal Fanconi syndrome, Rena... OMIM:276700
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Hepatome... OMIM:614162
Reynolds Syndrome
Jaundice, Cholestasis, Hepatomegaly, Lymphopenia, Biliary cirrhosis, Splenomegaly OMIM:613471
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Abnormality of the pancreas, Anemia ORPHA:935

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 Klk8

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 Klk8.

No publications found that use IMPC mice or data for Klk8.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Klk8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klk8em1(IMPC)Ccpcz Exon Deletion Mice

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