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 |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hy... |
OMIM:300635 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... |
OMIM:618620 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Lcat Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circul... |
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 |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... |
OMIM:278000 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia |
OMIM:603471 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia |
OMIM:617591 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol... |
ORPHA:79277 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:264580 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia |
ORPHA:31150 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
ORPHA:79083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperchol... |
ORPHA:79240 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98855 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... |
ORPHA:167 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:370 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:261 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Hyperammonemia, Incr... |
ORPHA:470 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia |
ORPHA:79477 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... |
ORPHA:98907 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepatosplenomegaly, Hyperl... |
ORPHA:444490 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... |
OMIM:615980 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Steatorrhea, Hepatosplenomegaly, Hyperkalemia, Hypertriglyceridemia, Hypo... |
ORPHA:275761 |
X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:203800 |
H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia |
ORPHA:168569 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:613327 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypertriglyceridemia, Chronic neutropenia,... |
ORPHA:79259 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:280365 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Splenomegaly, Abnormal circulating lipid... |
ORPHA:77293 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Splenomegaly, Accessory spleen, Hypertriglyceridemia, Anemia, Polysplenia |
OMIM:619418 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia... |
OMIM:619573 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly |
ORPHA:1414 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:256040 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly |
OMIM:269700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:608594 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
Primary Lipodystrophy |
|
Hyperlipidemia, Splenomegaly |
ORPHA:90970 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H... |
ORPHA:189427 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:264090 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Spl... |
ORPHA:567983 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Glycogen Storage Disease Ib |
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Hyperlipidemia, Splenomegaly, Hyperuricemia, Neutropenia, Xanthelasma |
OMIM:232220 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232200 |
Triglyceride Deposit Cardiomyovasculopathy |
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Hyperlipidemia, Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Splen... |
ORPHA:565612 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Alström Syndrome |
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Hypertriglyceridemia, Hepatosplenomegaly, Hyperlipidemia, Splenomegaly |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |