Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy |
OMIM:246650 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis |
OMIM:610947 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue |
ORPHA:71529 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy |
OMIM:613877 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level |
OMIM:615238 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Loss of glutea... |
ORPHA:435651 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Hypertriglyceridemia, Lipodystrophy |
ORPHA:79085 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Osteoporosis, ... |
OMIM:615381 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Hypercholesterolemia, Increa... |
ORPHA:528 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, C... |
ORPHA:2348 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Hyperuricemia, L... |
ORPHA:79083 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture |
OMIM:616222 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen |
ORPHA:251004 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Unicameral bone cyst, Generalized lipodystrophy, Panniculitis, Abnormal cir... |
ORPHA:79086 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Lipodystrophy, Elevated circulating cre... |
OMIM:615980 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
Werner Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase concentration, Reduced b... |
ORPHA:261476 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Panniculitis, Lipodystrophy, Hypertriglyceridemia, Flexion contracture |
OMIM:617591 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia |
ORPHA:2088 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Foot joint contracture, Scarring, Increased blood urea nitrogen |
ORPHA:90321 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hyperostosis frontalis interna, Hypertriglyceridemia, Hy... |
OMIM:203800 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hyperlipidemia, Osteoporosis |
ORPHA:369 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:608594 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Osteolysis, Hernia, Camptodactyly |
ORPHA:168569 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... |
ORPHA:79240 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Osteopenia, Hypertriglyceridemia, Hyper... |
ORPHA:470 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Congenital Analbuminemia |
|
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... |
ORPHA:86816 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Celluli... |
ORPHA:536532 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Hyper... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Osteolysis, Generalized lipodystrophy, Osteolytic defects of the dist... |
ORPHA:90154 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis |
ORPHA:369837 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia |
OMIM:307030 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Camptodactyly of fi... |
OMIM:256040 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Osteolytic defect... |
OMIM:619127 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Osteop... |
ORPHA:77293 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Osteop... |
ORPHA:79474 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Osteolysis, Osteolytic defects of the distal phalanges of th... |
ORPHA:90153 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Osteoporosis, Hyperuricemia |
OMIM:232200 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Flexion contracture, Abse... |
OMIM:264090 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly... |
ORPHA:3455 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Osteoporosis, Hyperuricemia |
OMIM:232220 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Aromatase Deficiency |
|
Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:91 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Hyperlipidemia |
ORPHA:3464 |
Alström Syndrome |
|
Hyperostosis frontalis interna, Hyperlipidemia, Hypertriglyceridemia, Dorsocervical fat pad |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
|
OMIM:618158 |