| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:604091 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:136120 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... |
OMIM:206200 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia |
OMIM:608898 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia |
OMIM:617970 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... |
OMIM:607616 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... |
OMIM:615631 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... |
OMIM:616860 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Failure to thrive, Splenomegaly |
OMIM:614480 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... |
OMIM:603552 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... |
OMIM:224120 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal... |
OMIM:613101 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:610947 |
| Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
| Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:618620 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... |
ORPHA:98870 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
OMIM:616516 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... |
OMIM:300908 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... |
OMIM:618398 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hypertriglyceridemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased ci... |
OMIM:300635 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Obesity, Hyperlipidemia |
OMIM:617885 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia |
OMIM:306000 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Absent circulating B cells, Splenomegaly, Pancytopenia |
OMIM:620282 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... |
ORPHA:71275 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... |
ORPHA:158057 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia |
OMIM:612526 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... |
ORPHA:1578 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... |
OMIM:267700 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... |
ORPHA:650 |
| Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... |
OMIM:620603 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| East Syndrome |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
ORPHA:199343 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia |
OMIM:613845 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia |
OMIM:175500 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... |
OMIM:301083 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Gitelman Syndrome |
|
Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Hypokalemia |
ORPHA:358 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Bone-marrow f... |
OMIM:278000 |
| Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... |
OMIM:615947 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... |
OMIM:301310 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... |
OMIM:619313 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... |
OMIM:619802 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia |
ORPHA:90362 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... |
ORPHA:158061 |
| Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... |
OMIM:223360 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Obesity, Overweight, Truncal obesity, Small for gesta... |
OMIM:616222 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... |
OMIM:603553 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... |
OMIM:615812 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Tangier Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... |
OMIM:205400 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Anemia |
OMIM:603278 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia |
OMIM:603471 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
OMIM:612780 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia, Abnormal circulating calcium concentration |
OMIM:248190 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... |
OMIM:238600 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... |
ORPHA:247585 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... |
ORPHA:231226 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia |
OMIM:182290 |
| Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
ORPHA:428 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Hypercholesterolemia, Increased LDL cholesterol concentration |
ORPHA:209902 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Anisocytosis |
OMIM:604273 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... |
ORPHA:540 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... |
ORPHA:158048 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... |
ORPHA:37042 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
| Gitelman Syndrome |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
OMIM:263800 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip... |
OMIM:618278 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Anemia, Increased body weight, Abnormal erythrocyte enzyme concentration or... |
ORPHA:264580 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Failure to thrive, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased ... |
ORPHA:444490 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... |
ORPHA:98855 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Anemia, Increased body weight, Elevated circulating creatine kinase concent... |
ORPHA:79240 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Hypercholesterolemia |
ORPHA:819 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... |
ORPHA:98863 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... |
ORPHA:261 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Abdominal obesity, Hyperlipidemia, Elevated circulating... |
OMIM:615980 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Anem... |
ORPHA:470 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Splenomegaly, Hyperuricemia |
ORPHA:79083 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Cachexia, Vacuolated lympho... |
ORPHA:275761 |
| Hypomagnesemia 3, Renal |
|
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... |
OMIM:248250 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... |
OMIM:235400 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... |
ORPHA:167 |
| Tangier Disease |
|
Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia |
ORPHA:31150 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:241200 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... |
OMIM:219800 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Pearson Syndrome |
|
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia |
ORPHA:699 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Failure to thrive, Splenomegaly, Elevated circulating creatine kinase conce... |
OMIM:613327 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Failure to thrive, Hypophosphatemia |
ORPHA:2088 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal granulocyte morphology, Abnormal circulating creatine kinase conce... |
ORPHA:98907 |
| Congenital Erythropoietic Porphyria |
|
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... |
ORPHA:79277 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia |
ORPHA:369 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... |
ORPHA:86816 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Fa... |
ORPHA:79259 |
| H Syndrome |
|
Hypertriglyceridemia, Histiocytosis, Microcytic anemia, Hepatosplenomegaly |
ORPHA:168569 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Anemia, Accessory spleen, Failure to thrive, Splenomegaly, Failure to thriv... |
OMIM:619418 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Hyperlipidemia |
ORPHA:2089 |
| Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... |
OMIM:619573 |
| Prader-Willi Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Obesity, Class III obesity, Abdomi... |
OMIM:176270 |
| Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age |
OMIM:256300 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Obesity, Elevated h... |
OMIM:203800 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:280365 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:77293 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Obesity, Hypercalcemia |
ORPHA:369837 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... |
ORPHA:1830 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly |
ORPHA:1414 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Small for gestational age |
OMIM:307030 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... |
OMIM:256040 |
| Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly |
OMIM:269700 |
| 19P13.12 Microdeletion Syndrome |
|
Obesity, Hyperlipidemia |
ORPHA:254346 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid conc... |
ORPHA:567983 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia |
OMIM:118450 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Hyperlipidemia, Hyperaldosteronism, Abdominal obesity, Paradoxical increas... |
ORPHA:189427 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia, Small for gestational age |
OMIM:606721 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:608594 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... |
ORPHA:157 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... |
ORPHA:228308 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Failure to thrive, Hypoplasia of the thymus, Small for gestational age |
OMIM:264090 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Failure to thrive, Decreased body weight |
ORPHA:79474 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Obesity, Childhood-onset truncal obesity, Decreased HDL cholesterol concent... |
ORPHA:110 |
| Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperuricemia, Hyperlipidemia, Splenomegaly, Neutropenia |
OMIM:232220 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Failure to thrive, Slender build |
ORPHA:3455 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Hyperlipidemia, Splen... |
ORPHA:565612 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Obesity, Hyperlipidemia |
ORPHA:91 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
| Fabry Disease |
|
Abnormal circulating lipid concentration, Hyperlipidemia, Anemia |
ORPHA:324 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Obesity, Hyperlipidemia |
ORPHA:293987 |
| Alström Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia, Obesity, Hepatosplenomegaly, Splenomegaly, Truncal obesity |
ORPHA:64 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
ORPHA:3464 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
