Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... |
OMIM:619902 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H... |
OMIM:232700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia |
OMIM:608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hy... |
OMIM:615703 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ... |
OMIM:245900 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:615382 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... |
OMIM:620282 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... |
OMIM:300635 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:604387 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... |
ORPHA:85445 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... |
ORPHA:567548 |
Reni Syndrome |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo... |
OMIM:617575 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... |
OMIM:208540 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232220 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... |
OMIM:194080 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi... |
OMIM:214900 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:619313 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:613027 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:280356 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... |
OMIM:615947 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hyper... |
OMIM:619013 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir... |
OMIM:608836 |
H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcytic anemia, Lymp... |
ORPHA:168569 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypoalbuminemia, Leuk... |
OMIM:617303 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232200 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... |
ORPHA:449395 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Eleva... |
OMIM:276700 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... |
ORPHA:97290 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... |
ORPHA:1414 |
Granulomatous Slack Skin |
|
Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology |
ORPHA:33111 |
Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin conc... |
ORPHA:540 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Glomerulopathy, Pancreatitis, Hypertriglycer... |
ORPHA:2348 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
Temple Syndrome |
|
Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hypertriglyc... |
OMIM:616222 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... |
OMIM:610644 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Ch... |
ORPHA:79259 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... |
ORPHA:470 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... |
OMIM:602450 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hepatic st... |
ORPHA:528 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, Pancreatitis, Hype... |
ORPHA:79083 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom... |
ORPHA:251004 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
ORPHA:79477 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... |
OMIM:615558 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Ci... |
OMIM:604367 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Renal tubular acidosis, Polycystic ... |
ORPHA:264580 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia |
OMIM:615238 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly |
ORPHA:435651 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat... |
ORPHA:247585 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Cryptorchidism, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly |
OMIM:615381 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... |
ORPHA:276280 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Elevated circulating ... |
ORPHA:79240 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Abnormal hepatic glycogen s... |
ORPHA:2088 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... |
OMIM:608022 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... |
OMIM:200995 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Elevated circulating... |
ORPHA:54251 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:363400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Hepatic steatosis, Polycystic ovaries, Elevated circulating cre... |
ORPHA:435660 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... |
ORPHA:66628 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Hepat... |
OMIM:617591 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... |
ORPHA:179494 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... |
OMIM:130650 |
Smith-Magenis Syndrome |
|
Abnormal renal morphology, Abnormality of the urinary system, Hypercholesterolemia, Hypertriglyce... |
OMIM:182290 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... |
ORPHA:412 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Proteinuri... |
ORPHA:369 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi... |
OMIM:613179 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... |
OMIM:618620 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney |
OMIM:618188 |
Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Decreased testicular size, Lymphopenia, Leukope... |
OMIM:617053 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ... |
ORPHA:31150 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomeg... |
ORPHA:505248 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... |
OMIM:612651 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus... |
OMIM:608978 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
Smith-Magenis Syndrome |
|
Precocious puberty, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypercholesterolemia, Hy... |
ORPHA:819 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... |
OMIM:256300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... |
OMIM:619418 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... |
OMIM:185070 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... |
ORPHA:116 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Proteinuria, Cir... |
ORPHA:79086 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A... |
OMIM:618280 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Polyuria, Hypertrigl... |
OMIM:618183 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hyperkalemia, Hypernatriuria, Abnormal urine potassium concentration, Hepatospl... |
ORPHA:275761 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypopl... |
OMIM:601186 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Alg9-Cdg |
|
Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ... |
ORPHA:79328 |
Leprechaunism |
|
Clitoral hypertrophy, Long penis, Nephrocalcinosis, Overgrowth of external genitalia, Hyperaldost... |
ORPHA:508 |
Chédiak-Higashi Syndrome |
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Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased HDL cholesterol concentration, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pan... |
ORPHA:280365 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyc... |
OMIM:613327 |
Mucolipidosis Ii Alpha/Beta |
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Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg... |
OMIM:252500 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ne... |
OMIM:608594 |
Gaisböck Syndrome |
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Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ... |
OMIM:151660 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ne... |
OMIM:269700 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Hyperlipi... |
ORPHA:567983 |
Prader-Willi Syndrome |
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Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Externa... |
OMIM:176270 |
Alagille Syndrome 1 |
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Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Chole... |
OMIM:118450 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... |
ORPHA:77293 |
Ogden Syndrome |
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Polycythemia, Decreased testicular size, Hyperbilirubinemia, Cryptorchidism, Microvesicular hepat... |
OMIM:300855 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:157 |
Heterotaxy, Visceral, 1, X-Linked |
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Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Cardiom... |
OMIM:306955 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98855 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... |
ORPHA:228308 |
Neutral Lipid Storage Disease With Ichthyosis |
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Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Hy... |
ORPHA:98907 |
Ataxia With Vitamin E Deficiency |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:261 |
Pearson Syndrome |
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Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... |
ORPHA:699 |
Seckel Syndrome 10 |
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Elevated circulating luteinizing hormone level, Glycosuria, Hepatic steatosis, Elevated circulati... |
OMIM:617253 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciur... |
ORPHA:369837 |
Alstrom Syndrome |
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Nephritis, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulat... |
OMIM:203800 |
Lipodystrophy, Familial Partial, Type 6 |
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Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Mandibuloacral Dysplasia |
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Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
Ciliary Dyskinesia, Primary, 53 |
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Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
Immunodeficiency 87 And Autoimmunity |
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Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, A... |
OMIM:619573 |
Werner Syndrome |
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Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
Xp21 Deletion Syndrome |
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Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Hypertriglycer... |
ORPHA:261476 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:235400 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... |
ORPHA:500095 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Helsmoortel-Van Der Aa Syndrome |
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Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... |
OMIM:615873 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... |
ORPHA:567546 |
Carnitine Palmitoyltransferase I Deficiency |
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Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Elevated circulating... |
OMIM:255120 |
Aapoaiv Amyloidosis |
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Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Bardet-Biedl Syndrome |
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Chronic kidney disease, Hepatic fibrosis, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hyp... |
ORPHA:110 |
Schimke Immuno-Osseous Dysplasia |
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Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... |
ORPHA:1830 |
Agammaglobulinemia, X-Linked |
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Recurrent urinary tract infections, Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Neutro... |
OMIM:300755 |
Glycerol Kinase Deficiency |
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Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Hypertriglyceridemia, Hyperglyc... |
OMIM:307030 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Nephroblastoma, S... |
OMIM:312870 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Proteus Syndrome |
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Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly... |
ORPHA:744 |
Neutral Lipid Storage Myopathy |
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Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Hepatic steatosis, Chol... |
ORPHA:98908 |
Griscelli Syndrome Type 1 |
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Hyperlipidemia |
ORPHA:79476 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Parotitis, Microcytic anemia, Decreased HDL cholesterol concentration, Splenomegaly, Hypertriglyc... |
OMIM:256040 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Hyperlipidemia, Ketonuria, Glycosuria |
ORPHA:2089 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma,... |
ORPHA:363618 |
Microtriplication 11Q24.1 |
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Hyperlipidemia |
ORPHA:289522 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Pituitary adenoma, Increased circulating cortisol level, Increased urinary cortisol level, Hypera... |
ORPHA:189427 |
19P13.12 Microdeletion Syndrome |
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Precocious puberty, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Hypospadias |
ORPHA:254346 |
Glycogen Storage Disease Ic |
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Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Xan... |
OMIM:232240 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Cryptorchidism, Hypertriglyceridemia |
ORPHA:536532 |
Aromatase Deficiency |
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Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Hyp... |
ORPHA:91 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hypertriglyceridem... |
OMIM:619127 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis, Elevated circulating creatine kinase ... |
ORPHA:565612 |
Combined Deficiency Of Factor V And Factor Viii |
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Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Methanol Poisoning |
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Hyperlipidemia |
ORPHA:31825 |
Atypical Werner Syndrome |
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Glycosuria, Hypogonadism, Hepatic steatosis, Hypertriglyceridemia, Abnormal testis morphology, Re... |
ORPHA:79474 |
Congenital Analbuminemia |
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Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Wiedemann-Rautenstrauch Syndrome |
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Long penis, Cryptorchidism, Hypoplasia of the thymus, Hypertriglyceridemia, Hypospadias |
OMIM:264090 |
Wiedemann-Rautenstrauch Syndrome |
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Increased circulating prolactin concentration, Recurrent urinary tract infections, Decreased resp... |
ORPHA:3455 |
Alström Syndrome |
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Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... |
ORPHA:64 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Hypercholesterolemia, Polyuria, Hypertriglyceridemia |
OMIM:606721 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ... |
OMIM:241080 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Stage 5 chronic kidney disease, Hyperlipidemia |
OMIM:608612 |
Fabry Disease |
|
Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat... |
ORPHA:324 |
Woodhouse-Sakati Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypogonadism, S... |
ORPHA:3464 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Hyperlipidemia |
ORPHA:90153 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Calcinosis |
ORPHA:90154 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:293987 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis... |
ORPHA:391665 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased circulating prolactin concentration, Elevated circulating creatine kinase concentration |
OMIM:617675 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Mildly elevated creatine kinase, Increased circulating prolactin concentration |
ORPHA:502423 |