Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Dystonia, Tremor |
OMIM:615924 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... |
ORPHA:64753 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... |
OMIM:209950 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia |
OMIM:226300 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hy... |
OMIM:300635 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... |
ORPHA:2070 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia... |
OMIM:208920 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... |
ORPHA:167 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Lcat Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circul... |
ORPHA:650 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... |
OMIM:618620 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... |
OMIM:242150 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia |
ORPHA:2315 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia |
OMIM:608104 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Elevated circulating creatine kinase ... |
OMIM:619743 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Mildly elevated creatine kinase |
OMIM:604484 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly |
ORPHA:1655 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration |
OMIM:307800 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Tremor, Limb dystonia |
ORPHA:363400 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess |
ORPHA:67 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241530 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... |
OMIM:278000 |
Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia |
OMIM:603471 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia |
OMIM:616026 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Dystonia, Hypercholes... |
OMIM:277460 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:617303 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... |
ORPHA:36234 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... |
ORPHA:37042 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:367 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Hand tremor, Splenomegaly, Hemoly... |
OMIM:277900 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Intention tremor, Thrombocytosis, Hypocholesterolemia, Tremor, Hypoalbuminemia |
OMIM:212065 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hemolytic anemia, Hypoalbuminemia, Anemia, Dystonia |
OMIM:619487 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Reticulocytos... |
ORPHA:14 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Oculogyric crisis, Elevated circulating creatine kina... |
ORPHA:94093 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... |
ORPHA:89842 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Tremor, Transient hypophos... |
ORPHA:79102 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia |
ORPHA:29073 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
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 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Al Amyloidosis |
|
Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies |
ORPHA:85443 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... |
OMIM:619991 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... |
ORPHA:88673 |
Pearson Syndrome |
|
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Steatorrh... |
ORPHA:699 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Primary hypercortisolism, Hypophosphatemia, Pancytopenia |
ORPHA:562 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... |
ORPHA:90363 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... |
ORPHA:98907 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98855 |
Alg12-Cdg |
|
B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Thrombocytopenia |
ORPHA:79324 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia |
ORPHA:79477 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Increased mean platelet volume, Thrombocytosis, Hypermethioninemia, Abnormality of ... |
OMIM:222470 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... |
ORPHA:2298 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... |
ORPHA:3337 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... |
OMIM:615980 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia |
OMIM:617591 |
X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98853 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
ORPHA:79083 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia, Splenomegaly, Tremor, Anemia |
ORPHA:667 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... |
ORPHA:444490 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperchol... |
ORPHA:79240 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hyperammonemia, Increased LDL cho... |
ORPHA:470 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Hepatosplenomegaly, Hypoalbuminemia, Anemia, Thrombocytopenia |
ORPHA:505248 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:370 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:264580 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Hypoalbuminemia |
OMIM:251300 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Splenomegaly, Decreased ... |
OMIM:219800 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Hypoalbuminemia |
ORPHA:79396 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Steatorrhea, Hepatosplenomegaly, Hypertriglyceridemia, Hyponatremia, Hype... |
ORPHA:275761 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Anemia, Hypoalbuminemia |
ORPHA:79076 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia |
OMIM:229600 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:613327 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyperaldosteronism, Hyponatremia, Hypercholesterole... |
ORPHA:534 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Renal hypophosphatemia |
ORPHA:1652 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia |
ORPHA:31150 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:203800 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypercalcemia, Periapical tooth abscess |
ORPHA:437 |
X-Linked Hypophosphatemia |
|
Tooth abscess, Hypophosphatemia |
ORPHA:89936 |
H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia |
ORPHA:168569 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia |
ORPHA:369 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemi... |
ORPHA:79444 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia |
OMIM:613658 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Juvenile Polyposis Syndrome |
|
Anemia, Brain abscess, Hypoproteinemia |
ORPHA:2929 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia... |
OMIM:619573 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypertriglyceridemia, Chronic neutropenia,... |
ORPHA:79259 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:280365 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Hypoalbuminemia, Splenomegaly |
ORPHA:171 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Choreoathetosis, Hyperphosphatemia, Calcin... |
ORPHA:79443 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Splenomegaly, Abnormal circulating lipid... |
ORPHA:77293 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly |
ORPHA:1414 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia, Splenomegaly |
OMIM:270400 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Splenomegaly, Accessory spleen, Hypertriglyceridemia, Anemia, Polysplenia |
OMIM:619418 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... |
ORPHA:466650 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... |
ORPHA:340 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Hypoalbuminemia, Splenomegaly |
ORPHA:75565 |
Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of na... |
ORPHA:1830 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... |
OMIM:619534 |
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 |
Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Tremor, Dy... |
ORPHA:845 |
Stiff-Person Syndrome |
|
Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Primary Lipodystrophy |
|
Hyperlipidemia, Splenomegaly |
ORPHA:90970 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... |
ORPHA:157 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:608594 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Splenomegaly, Hyperuricemia, Neutropenia, Xanthelasma |
OMIM:232220 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Spl... |
ORPHA:567983 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H... |
ORPHA:189427 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Splen... |
ORPHA:565612 |
Wiedemann-Rautenstrauch Syndrome |
|
Intention tremor, Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:264090 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232200 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... |
ORPHA:189439 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Action tremor, Tremor |
ORPHA:3455 |
Sandhoff Disease |
|
Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia |
OMIM:241080 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis |
ORPHA:79318 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia |
ORPHA:3464 |
Aromatase Deficiency |
|
Hyperlipidemia |
ORPHA:91 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Exaggerated startle response, Dystonia, Decreased serum iron |
ORPHA:438213 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Alström Syndrome |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hyperlipidemia, Splenomegaly |
ORPHA:64 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |