Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
OMIM:603552 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... |
OMIM:300635 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly |
OMIM:612526 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... |
ORPHA:158061 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:205400 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... |
OMIM:615947 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Steatorrhea |
ORPHA:71 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... |
ORPHA:158048 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
ORPHA:540 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration |
OMIM:604367 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... |
ORPHA:79277 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia |
ORPHA:31150 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:264580 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
ORPHA:79083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri... |
ORPHA:79240 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferrit... |
ORPHA:167 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... |
ORPHA:370 |
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 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Hyperlipidemia, Neutropenia, Splenomegaly |
ORPHA:79477 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Hepatosplen... |
ORPHA:470 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... |
ORPHA:98907 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Xanth... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration |
OMIM:203800 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia, Hepatosple... |
ORPHA:444490 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly |
ORPHA:168569 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morphology, Xanthelasma, H... |
ORPHA:79259 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Decreased proportion of CD4-positive T ce... |
OMIM:619573 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:280365 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... |
ORPHA:77293 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Polysplenia, Accessory spleen, Hypertriglyceridemia, Splenomegaly |
OMIM:619418 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia |
ORPHA:1414 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, T... |
OMIM:256040 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Splenomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:608594 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Primary Lipodystrophy |
|
Splenomegaly, Hyperlipidemia |
ORPHA:90970 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... |
ORPHA:228308 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Paradoxical increased cortisol secretion on dexamethasone s... |
ORPHA:189427 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:264090 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... |
ORPHA:567983 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Hyperlipidemia, Xanthelasma, Neutropenia, Splenomegaly |
OMIM:232220 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Hyperlipidemia, Xanthelasma |
OMIM:232200 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Vacuolated lymphocytes, Splenomegaly, Hyperlipidemia, Elevated circulating creatine kinase concen... |
ORPHA:565612 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma |
OMIM:232240 |
Alström Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Hyperlipidemia, Hepatosplenomegaly |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |