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Gene: Suv39h2 MGI:1890396

Gene Summary

Name:

suppressor of variegation 3-9 2

Synonyms:

Suv39h histone methyltransferase, KMT1B, 4930507K23Rik, D2Ertd544e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased basophil cell number	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	9.90×10^-32
increased fasting circulating glucose level	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	9.14×10^-06
decreased mean corpuscular hemoglobin concentration	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	3.44×10^-05
increased circulating triglyceride level	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	6.65×10^-05
increased eosinophil cell number	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	4.85×10^-28
increased grip strength	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	2.54×10^-05
increased circulating alkaline phosphatase level	Suv39h2^{em1(IMPC)Marc}	HOM	Early adult	6.19×10^-06

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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.

Phenotype associated images not available

Human diseases caused by Suv39h2 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.

Human diseases associated with Suv39h2 (0 diseases)
Human diseases predicted to be associated with Suv39h2 (347 diseases)

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

The table below shows human diseases predicted to be associated to Suv39h2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 88	Eosinophilia	OMIM:619630
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ...	OMIM:615703
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Kimura Disease	Eosinophilia	ORPHA:482
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased...	OMIM:618620
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Neutral Lipid Storage Disease With Myopathy	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy...	OMIM:612526
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia	OMIM:617885
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Wells Syndrome	Eosinophilia	ORPHA:901
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	OMIM:613877
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:280356
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro...	OMIM:617388
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly...	ORPHA:199299
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:66628
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:179494
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:363400
Akt2-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	ORPHA:79085
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S...	ORPHA:79240
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Seckel Syndrome 10	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins...	OMIM:617253
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei...	OMIM:619632
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Ins...	ORPHA:79083
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Lipe-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati...	ORPHA:435660
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia	OMIM:615816
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young	OMIM:616222
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem...	ORPHA:528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Cystic Echinococcosis	Abscess, Eosinophilia, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess	ORPHA:400
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy...	ORPHA:2088
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Familial Partial Lipodystrophy, Dunnigan Type	Diabetes mellitus, Splenomegaly, Insulin resistance, Hypertriglyceridemia	ORPHA:2348
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Diabetes mellitus, Insulin resistance, Hypertriglyceridemia	OMIM:615381
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Hypertriglyceridemia, Abnormal circulating creatine kinase conce...	ORPHA:98907
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:435651
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c...	ORPHA:412
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, In...	ORPHA:444490
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Insulin r...	OMIM:613327
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449427
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro...	ORPHA:508533
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Histiocytosis	ORPHA:168569
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:203800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hypoglycemic seizures, X...	ORPHA:79259
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Polysp...	OMIM:619418
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, I...	ORPHA:280365
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:369
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto...	ORPHA:391673
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Coccidioidomycosis	Abnormality of the spleen, Granuloma, Abscess, Eosinophilia	ORPHA:228123
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Hyperinsulinemia, Insulin-resistant ...	OMIM:269700
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449563
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen...	OMIM:260400
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le...	ORPHA:449395
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen...	ORPHA:797
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabet...	OMIM:608594
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia	OMIM:307030
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame...	ORPHA:96253
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hyperlipidemia	ORPHA:1414
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Hypertriglyceridemia	ORPHA:536532
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Neutral Lipid Storage Myopathy	Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia	OMIM:232220
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat...	OMIM:256040
Mandibuloacral Dysplasia Progeroid Syndrome	Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Primary Triglyceride Deposit Cardiomyovasculopathy	Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidem...	ORPHA:565612
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Type I diabete...	ORPHA:171
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Type I...	OMIM:606721
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia	OMIM:232240
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:248370
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia	OMIM:232200
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Gluco...	ORPHA:189427
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Cushing Syndrome Due To Ectopic Acth Secretion	Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame...	ORPHA:99889
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance	ORPHA:90154
Viss Syndrome	Hypereosinophilia	OMIM:619472
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypoplasia of the thymus	OMIM:264090
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Type II diabetes mellitus	ORPHA:3455
Aromatase Deficiency	Insulin resistance, Hyperlipidemia, Type II diabetes mellitus	ORPHA:91
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus	OMIM:241080
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia	ORPHA:3464
Alström Syndrome	Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Hepatos...	ORPHA:64
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

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 Suv39h2

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 Suv39h2.

No publications found that use IMPC mice or data for Suv39h2.

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MGI Allele	Allele Type	Produced
Suv39h2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Suv39h2^{em1(IMPC)Marc}	Deletion	Mice

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