Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phospholipase A2, group XV
Synonyms:
Lpla2,  C87498,  Lypla3,  LLPL

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Pla2g15 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 Pla2g15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Papular Xanthoma
Histiocytosis ORPHA:158008
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Decreased circulati... OMIM:301045
Sitosterolemia 2
Premature coronary artery atherosclerosis, Hypercholesterolemia OMIM:618666
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Recurrent respiratory infections, Bone-marrow foam cells, Thr... OMIM:607616
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly, Pneumonia OMIM:269840
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertriglyceridemia 2
Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Re... OMIM:618495
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Hypercholesterolemia, Familial, 4
Atherosclerosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Decreased circulating antibody level,... OMIM:300635
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Respiratory tract infecti... ORPHA:444463
Trimethylaminuria
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia OMIM:602079
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:607594
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomega... OMIM:615122
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Microscopic hematuria, Proteinuria ORPHA:79087
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:300853
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal h... OMIM:278000
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Increased cir... ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Membranous nephropathy, Stage 5 chronic kidney disease, Recurrent up... OMIM:615559
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis OMIM:606069
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiecta... OMIM:242700
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recurre... OMIM:619164
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:610717
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618234
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Nephrotic syndrome, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Impaired T cell... OMIM:240500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Cardiomyopathy, Hepatic steatosis, Ethylmalonic ... ORPHA:26792
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis OMIM:230600
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Decreased liver function, Pulmonic stenosis... OMIM:614300
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Elevated hepatic transaminase, Cirrhosis, Hep... OMIM:613313
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... OMIM:615438
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormal... OMIM:619013
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema, Elevated hepatic transaminase, Cirrhosis, Hepatocellular... OMIM:613490
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Lacticaciduria, Elevated circulating alanine aminotransferase concentration, E... OMIM:619386
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Immunodeficiency 47
Exocrine pancreatic insufficiency, Accessory spleen, Cholestasis, Decreased circulating total IgG... OMIM:300972
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Nephrocalcinosis, Renal cyst, Bone marrow hypocellularity, 3-Methylglutaconic ... ORPHA:445038
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Ventricular septal hypertrophy, Hepatic steatosis, Renal tubular acidosis, Cholestasis, Splenomeg... ORPHA:370
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Sarcoidosis, Susceptibility To, 2
Emphysema, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Splenomegaly, Hepatomegal... OMIM:612387
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Hepatic steatosis OMIM:615703
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Dilated cardiomyopathy, 3-Methylglutaric aciduria, Normochromic... OMIM:610198
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Myocardit... ORPHA:292
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Immunodeficiency 32B
Recurrent respiratory infections, Splenomegaly, Bronchiectasis, Pneumonia OMIM:226990
Niemann-Pick Disease, Type A
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreas... OMIM:212140
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Patent foramen ov... OMIM:614582
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome... OMIM:617303
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Dec... ORPHA:540
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased urinary copper concentration ORPHA:209919
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-neg... OMIM:603909
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, S... OMIM:618935
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG level, Ascites, Glo... ORPHA:2137
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, L... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, L... OMIM:233710
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Recurrent respiratory infecti... OMIM:616005
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Renal cyst, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell h... ORPHA:79303
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Hepatomegaly, Generalized ... ORPHA:829
Common Variable Immunodeficiency
Emphysema, Abnormality of the liver, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Decrea... ORPHA:1572
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Decreased circulating IgG level, Hepatosplenomegaly, Leukocytos... OMIM:618278
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, L... OMIM:233690
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Myoglobinuria, Dicarboxyl... OMIM:231530
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Pleural thickening, Decreased eosinophil count, Increased circul... OMIM:619632
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Non-caseating epithelioid cell granulomatosis, Reversible ren... OMIM:607665
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Renal tubular acidosis, Cholestasis, Splenomegaly, Hepatomegaly, Myoglobinuria... ORPHA:264580
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Hepatic steatosis, Hypertrophic cardiomyopathy, Decreased liver function ORPHA:70472
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hepatic failure, Hypertrophic cardiomyo... OMIM:611126
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Portal hypertension, Left ventricular ... OMIM:619487
Hypercholesterolemia, Familial, 2
Xanthelasma, Coronary artery atherosclerosis, Hypercholesterolemia OMIM:144010
Harderoporphyria
Red urine, Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Increased urine hardero... OMIM:618892
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Hepatic failure, Portal hypertension OMIM:210050
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Renal tubular acidosis, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly OMIM:255120
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Decreased liver function... OMIM:614922
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Biliary tract obstruction, Proteinuria,... ORPHA:77259
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Red-brown urine, Myoglobinuria, Hepatomegaly, Cardiomyopathy,... ORPHA:228305
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-mar... OMIM:257220
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Atrial septal defect, Hydronephrosis, Cor triatriatum, Splenomegaly, Hep... OMIM:612541
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Renal cyst, Nephrotic syndrome, Proteinuria, ... OMIM:212065
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocy... OMIM:603554
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Bone marrow hypocellularity, Splenomegaly, H... ORPHA:47612
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Macrovesicular... OMIM:600649
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Gracile Syndrome
Hepatic steatosis, Renal Fanconi syndrome, Cholestasis, Elevated hepatic iron concentration, Cirr... ORPHA:53693
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular... OMIM:201475
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Ascites, Splenomegaly, Hepatomegaly, Pleural ... OMIM:306400
Primary Lipodystrophy
Hepatic steatosis, Splenomegaly, Cardiomyopathy, Pancreatitis, Cirrhosis ORPHA:90970
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Right ventricular hypertrophy ORPHA:353
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:2348
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemi... ORPHA:848
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Hepatic steatosis, Renal cortical cysts, Proximal tubulopa... OMIM:231680
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Stage 5 chronic kidney disease, Periportal fibrosis, Cutaneou... ORPHA:101330
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased liver function, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid... ORPHA:42
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:607625
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Eleva... OMIM:619463
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Recurrent ... OMIM:102700
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Hydronephrosis, Elevated hep... ORPHA:541423
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Hypocomplementemic Urticarial Vasculitis
Emphysema, Abnormal heart valve morphology, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, P... ORPHA:36412
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, Abnormal granuloc... ORPHA:98907
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ... OMIM:194380
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Acanth... ORPHA:71
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated hepatic transaminas... OMIM:201450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hypertrophic cardiomy... ORPHA:436271
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Hemoglobinuria, Hei... OMIM:300908
Ddost-Cdg
Nephrotic range proteinuria, Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Thymoma, Autoimmune thrombocytop... ORPHA:227990
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Acute hepatic failure, Di... ORPHA:99901
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Glycosuria, Lacticaciduria, Hepatic failure, Pro... ORPHA:699
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotra... OMIM:619573
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Proximal t... ORPHA:231222
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, L... ORPHA:53035
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Abnormal platelet function, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Atrial septal ... OMIM:602782
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Cardiomyopathy ORPHA:52430
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomyopathy, Elevated hepatic transami... OMIM:212138
Lysinuric Protein Intolerance
Oroticaciduria, Leukopenia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Pulmonary ... OMIM:222700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Cystic renal dysplasia, Hepatic failure, Tubul... ORPHA:228308
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis ORPHA:79322
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Splenomegaly, Impaired T cell function, Anemia, Aminoa... ORPHA:30
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Elevated hepatic ... OMIM:613327
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Thymoma, Autoimmune thrombocytop... ORPHA:227982
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Perineal hypospadias, Normochromic micr... ORPHA:66634
Lysinuric Protein Intolerance
Oroticaciduria, Hepatic failure, Proteinuria, Anemia, Membranous nephropathy, Pancreatitis, Throm... ORPHA:470
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:261680
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Renal Fanconi syndrome, Renal tubular dysfun... OMIM:220110
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Adrenomyodystrophy
Hepatic steatosis, Megacystis ORPHA:977
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Anemia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:528
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615381
Graft Versus Host Disease
Hepatosplenomegaly, Pneumonia, Hemophagocytosis, Chronic hepatitis, Jaundice, Lymphadenopathy, El... ORPHA:39812
Alstrom Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Recurrent pneumonia, Tubulointerstitial nephritis, Hep... OMIM:203800
Gaucher Disease Type 3
Pancytopenia, Abnormal myocardium morphology, Abnormal heart valve morphology, Hematuria, Protein... ORPHA:77261
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Micropenis, Elevated hepatic transaminas... ORPHA:2959
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hepatic steatosis, Methioninuria, Pancreatitis, Mitral valve prolapse OMIM:236200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Elevated circulating alanine aminotransferase concentrat... OMIM:608836
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Proteinuria, Grade II vesicoureteral reflux, Anemi... OMIM:619377
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Vacuolated lymphocytes, Fa... ORPHA:275761
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, 3-Methylglutaric aciduria, Leukopenia, Leukocytosis, ... ORPHA:20
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Emphysema, Abnormality of T cell physiology, Elevated bronchoalveolar lavage fluid ... OMIM:181000
Lipodystrophy, Congenital Generalized, Type 2
Ventricular septal hypertrophy, Acute pancreatitis, Hepatic steatosis, Nephrolithiasis, Hypertrop... OMIM:269700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Myoglobinuria, Acute hepa... ORPHA:71212
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Aplasia/Hypoplasia of the lungs, Conotruncal defect, Cross... ORPHA:3097
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:79085
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, B... ORPHA:168569
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice, Peri... ORPHA:444490
Listeriosis
Hepatic granulomatosis, Pericarditis, Pyelonephritis, Pneumonia, Acute kidney injury, Cholecystit... ORPHA:533
19P13.12 Microdeletion Syndrome
Atrial septal defect, Hepatic steatosis, Hypospadias, Ventricular septal defect ORPHA:254346
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Fanconi Renotubular Syndrome 5
Glycosuria, Emphysema, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... OMIM:618913
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Bronchiectasis, Recurrent lower respiratory tract infecti... ORPHA:60033
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Nephrolithiasis, Splenomegaly, Hepatomegaly, Cardiomyopath... OMIM:608594
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:619525
Citrullinemia Type Ii
Hepatic steatosis, Enuresis, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocel... ORPHA:247585
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepa... OMIM:617253
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Proteinuria, Hepatomegaly, Cardiomyopathy, Cirrhosis ORPHA:79086
Hypophosphatasia
Emphysema, Anemia ORPHA:436
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Enlarged kidney, Nephrocalcinosis, Nephrolithiasis, Proteinuria, Chronic neutr... ORPHA:79259
D-Bifunctional Protein Deficiency
Hepatic steatosis, Renal cyst, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, ... OMIM:261515
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hypertrophy ORPHA:70589
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:280365
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Aciduria, Hepatic failure, Bile duct proliferation, 3-Methylglu... OMIM:203700
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Emphysema, Biliary cirrhosis, Recurrent pneumonia, Biliary tra... OMIM:219721
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatomegaly, Jaundice, Increased urinary gly... ORPHA:247598
Granulomatosis With Polyangiitis
Elevated bronchoalveolar lavage fluid neutrophil proportion, Diffuse alveolar hemorrhage, Localiz... OMIM:608710
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Hypertrophic cardiomyopathy, Tubuloin... OMIM:124000
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Arima Syndrome
Nephronophthisis, Hepatic steatosis, Hepatomegaly, Polycystic kidney dysplasia, Tubulointerstitia... OMIM:243910
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Hypersensitivity pneumonitis, Honeycomb lung, Chronic bronchitis, Respiratory tract in... ORPHA:79127
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis OMIM:604571
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Hepatomegaly, Acanthocytosis, Anemia, Elevated hepatic transaminase... ORPHA:14
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Ascites, Spontaneous pneum... ORPHA:731
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:435660
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Increased urinary glycerol, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Horseshoe kidney, Renal Fanconi s... ORPHA:93111
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Emphysema, Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct prolifera... OMIM:613658
Monosomy 13Q34
Hepatic steatosis, Common atrium, Pulmonic stenosis ORPHA:96168
Netherton Syndrome
Emphysema, Ectopic kidney, Hydronephrosis, Decreased circulating antibody level, Aminoaciduria, R... ORPHA:634
Ellis Van Creveld Syndrome
Emphysema, Hydroureter, Abnormality of the ureter, Abnormal heart valve morphology, Aplasia/Hypop... ORPHA:289
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Methylmalonic aciduria, Patent foramen ovale, Hypertrophic cardiomyopathy, 3-M... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Decreased live... OMIM:618329
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Cardiac myxoma, Nephrolithiasis, Increased urinary cortisol level, Elevated he... ORPHA:189439
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Acute hepatic steatosis OMIM:210200
Digeorge Syndrome
Cholelithiasis, Unilateral renal agenesis, Hepatic steatosis, Recurrent pneumonia, Truncus arteri... OMIM:188400
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Cardiomyopathy, Chronic hepatic failure, Diffuse hepatic steatosis, Left ventricular... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hyperuricosuria, Bicarbonaturia, Proximal tubulopathy, Hepatomegal... OMIM:229600
Granulomatosis With Polyangiitis
Ureteral stenosis, Recurrent intrapulmonary hemorrhage, Hematuria, Proteinuria, Hydronephrosis, R... ORPHA:900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Reticular pattern on pulmonary HRCT, Honeycomb lung, Intraalv... OMIM:610921
Lymphangioleiomyomatosis
Emphysema, Renal angiomyolipoma, Chylothorax, Abnormal urinary color, Hematuria, Pulmonary lympha... ORPHA:538
Nocardiosis
Emphysema, Pericarditis, Lymphadenitis, Pneumonia, Abnormal heart valve morphology, Cutaneous abs... ORPHA:31204
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Pancreatic fibrosis OMIM:616263
Sarcoidosis
Hepatic failure, Increased T cell count, Anemia, Thrombocytopenia, Emphysema, Nephrocalcinosis, L... ORPHA:797
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:412
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Increased urinary cortisol level, Nephrolithiasis ORPHA:189427
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
1P36 Deletion Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Abnormality of the liver, Renal cyst, Tetralogy of Fal... ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Renal hypoplasia, Hepatic steatosis, Leukocytosis OMIM:619321
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Microvesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Recurren... ORPHA:404454
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Elevated he... ORPHA:98908
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Atrial s... ORPHA:95430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615356
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Patent foramen ovale, Proteinuria, Hepatomegaly, Elevated hemoglobi... OMIM:619127
Visceral Steatosis, Congenital
Hepatic steatosis, Myocardial steatosis, Jaundice OMIM:228100
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Hepatomegaly OMIM:151660
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the intrahepatic bile duct, Abnormality of the pulmonary artery, Ventri... ORPHA:363618
Fabry Disease
Emphysema, Abnormal myocardium morphology, Abnormal endocardium morphology, Nephrotic syndrome, H... ORPHA:324
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Bladder diverticulum, Patent foramen ovale, Hydronephrosis, Pulmonary artery stenosis,... OMIM:613177
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Cholestasi... OMIM:619503
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Horseshoe kidney, Ectopic kidney, Atrial septal defect, Hyp... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Horseshoe kidney, Ectopic kidney, Atrial septal defect, Hyp... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Horseshoe kidney, Ectopic kidney, Atrial septal defect, Hyp... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Horseshoe kidney, Ectopic kidney, Atrial septal defect, Hyp... ORPHA:99226
Loeys-Dietz Syndrome 4
Emphysema, Mitral valve prolapse, Pneumothorax, Bicuspid aortic valve OMIM:614816
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Hematuria, Micropenis, Jaundice, Elevated hepatic transaminase, Abnormal abdom... OMIM:619475
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Urethral diverticulum, Pyelonephritis, Dilatation of the ventricu... ORPHA:90349
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections, Bladder diverticulum OMIM:219100
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Aortic valve stenosis, Neoplasm of the lung, Abnormality of the pu... ORPHA:79474
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Pulmonary bleb, Anem... OMIM:130050
Aromatase Deficiency
Enlarged polycystic ovaries, Hepatic steatosis ORPHA:91
Alström Syndrome
Hepatic failure, Functional abnormality of the bladder, Dysuria, Oligospermia, Urinary urgency, A... ORPHA:64
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Hydronephrosis, Congenital malformation of the left heart, Hypospadias, Pulmon... ORPHA:3455
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Neonatal Marfan Syndrome
Emphysema, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Tricuspid valve prolapse ORPHA:284979
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Myocardial steatosis, Renal artery stenosis ORPHA:391665
Viss Syndrome
Emphysema, Right ventricular dilatation, Hypereosinophilia, Increased circulating IgG level, Pate... OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Emphysema, Absent gallbladder, Decreased circulating IgG level, Horses... ORPHA:500150
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Emphysema, Pyelonephritis, Bladder diverticulum, Bronchiolitis, Dilata... ORPHA:90348
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchiti... OMIM:245150
Marfan Syndrome
Emphysema, Mitral annular calcification, Pulmonary artery dilatation, Tricuspid valve prolapse, P... OMIM:154700
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Meier-Gorlin Syndrome 1
Micropenis, Emphysema OMIM:224690
Marfan Syndrome
Emphysema, Pulmonary artery dilatation, Mitral valve calcification, Spontaneous pneumothorax, Mit... ORPHA:558
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437

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 Pla2g15

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 Pla2g15.

No publications found that use IMPC mice or data for Pla2g15.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pla2g15tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pla2g15tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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