Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... |
OMIM:241600 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... |
OMIM:616267 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:614480 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... |
OMIM:300635 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... |
OMIM:208920 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Tremor, Increase... |
ORPHA:167 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... |
OMIM:615895 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2315 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... |
ORPHA:64743 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Normochromic anemia, Hypoalbuminemia, Intention tremor, Thrombocytopenia, Action... |
OMIM:254900 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly |
ORPHA:1655 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Hypertriglyceridemia, Limb dystonia |
ORPHA:363400 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hand tremor |
OMIM:604484 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes... |
OMIM:277460 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... |
OMIM:615947 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Tremor, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Intention tremor |
OMIM:212065 |
Wilson Disease |
|
Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... |
OMIM:277900 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Dystonia, Anemia |
OMIM:619487 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:613027 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... |
ORPHA:14 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:66628 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... |
ORPHA:89842 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:179494 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Al Amyloidosis |
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Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Anemia |
ORPHA:85443 |
Multiple Myeloma |
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Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Griscelli Syndrome Type 2 |
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Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Alg12-Cdg |
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Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:79324 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal granulocyte morphology, Hypertriglyceridemia, Abnormal circulating creatine kinase conce... |
ORPHA:98907 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Pparg-Related Familial Partial Lipodystrophy |
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Splenomegaly, Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Lipodystrophy, Familial Partial, Type 6 |
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Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating fatty-acid concentration, Leukopenia, Hypotriglyceridemia, Hypoalbuminemia, ... |
ORPHA:2298 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Hypertriglyceridemia |
OMIM:615381 |
Trichohepatoenteric Syndrome 1 |
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Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Splenomegaly, Hypertriglyceridemia |
ORPHA:2348 |
Cidec-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia |
ORPHA:435651 |
Lysinuric Protein Intolerance |
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Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... |
ORPHA:79240 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Smith-Magenis Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Mandibuloacral Dysplasia |
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Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Griscelli Syndrome Type 1 |
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Hyperlipidemia |
ORPHA:79476 |
Galloway-Mowat Syndrome 1 |
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Hypoalbuminemia, Dystonia |
OMIM:251300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia |
ORPHA:505248 |
Xfe Progeroid Syndrome |
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Hypoalbuminemia |
OMIM:610965 |
Werner Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Hypoalbuminemia |
OMIM:235510 |
Galloway-Mowat Syndrome 3 |
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Hypoalbuminemia |
OMIM:617729 |
Marburg Hemorrhagic Fever |
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Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Xp21 Deletion Syndrome |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Familial Chylomicronemia Syndrome |
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Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, Increased circulating... |
ORPHA:444490 |
Tangier Disease |
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Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Splenomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Hypoalbuminemia, Anemia |
ORPHA:79396 |
Alstrom Syndrome |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:203800 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Juvenile Polyposis Of Infancy |
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Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis |
ORPHA:171 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Fanconi-Bickel Syndrome |
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Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Seckel Syndrome 10 |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Juvenile Polyposis Syndrome |
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Brain abscess, Hypoproteinemia, Anemia |
ORPHA:2929 |
H Syndrome |
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Hepatosplenomegaly, Hypertriglyceridemia, Histiocytosis, Microcytic anemia |
ORPHA:168569 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hyperlipidemia |
ORPHA:369 |
Acquired Generalized Lipodystrophy |
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Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole... |
ORPHA:79259 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Hyperlipidemia |
ORPHA:2089 |
Smith-Lemli-Opitz Syndrome |
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Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... |
OMIM:270400 |
Cholestasis-Lymphedema Syndrome |
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Splenomegaly, Hyperlipidemia |
ORPHA:1414 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Stiff-Person Syndrome |
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Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hypertriglyceridemia, Splenomegaly, Polysplenia, Anemia |
OMIM:619418 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Tay-Sachs Disease |
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Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... |
ORPHA:845 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hypertriglyceridemia |
ORPHA:536532 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Neutral Lipid Storage Myopathy |
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Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Leptospirosis |
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Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Schimke Immuno-Osseous Dysplasia |
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Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Splenomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... |
OMIM:619534 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Splenomegaly, Hypertriglyceridemia |
OMIM:608594 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Glycogen Storage Disease Ib |
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Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia |
OMIM:232220 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Sandhoff Disease |
|
Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... |
ORPHA:567983 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypoplasia of the thymus, Intention tremor |
OMIM:264090 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Hyperlipidemia, Vacuolated lymphocytes, Elevated circulating creatine kinase concen... |
ORPHA:565612 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Hypertriglyceridemia, Action tremor |
ORPHA:3455 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia |
OMIM:241080 |
Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis |
ORPHA:79318 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia |
ORPHA:3464 |
Aromatase Deficiency |
|
Hyperlipidemia |
ORPHA:91 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Anemia, Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Alström Syndrome |
|
Splenomegaly, Hyperlipidemia, Hypertriglyceridemia, Hepatosplenomegaly |
ORPHA:64 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |