Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Glycogen Storage Disease Vi |
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Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Chylomicron Retention Disease |
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Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Coxopodopatellar Syndrome |
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Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... |
ORPHA:1509 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Distal Arthrogryposis Type 1 |
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Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... |
ORPHA:1146 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Short Stature Due To Ghsr Deficiency |
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Hypoglycemia, Decreased body weight, Abnormality of body weight |
ORPHA:314811 |
Beukes Hip Dysplasia |
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Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... |
OMIM:142669 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Growth Hormone Insensitivity Syndrome |
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Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... |
ORPHA:1802 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Hypoplastic Femurs And Pelvis |
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Hypoplastic pelvis, Short femur |
OMIM:619545 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Hyperactivity |
OMIM:617028 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, Abnormal pelvic gi... |
ORPHA:2370 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Potocki-Lupski Syndrome |
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Failure to thrive, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Glycogen Storage Disease Ixa1 |
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Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... |
OMIM:615160 |
Chylomicron Retention Disease |
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Failure to thrive, Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Genital neoplasm, Hypophosphatemic rickets, Neoplasm, Hypoinsulinemia, Neoplasm of the liver, Ute... |
ORPHA:2126 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age |
OMIM:614702 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, M... |
ORPHA:79644 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Hypochondroplasia |
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Abnormality of femur morphology, Short toe, Brachydactyly, Genu varum, Bowing of the long bones, ... |
ORPHA:429 |
Mody |
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Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Galactokinase Deficiency |
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Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... |
ORPHA:79237 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... |
OMIM:262190 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Brachydactyly, Cuboidal metacarpal, Abnormally shaped carpal bones, Tarsal synostosis, Abnormal p... |
ORPHA:968 |
Léri-Weill Dyschondrosteosis |
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Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... |
ORPHA:2928 |
Glucocorticoid Deficiency 2 |
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Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Jeune Syndrome |
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Cone-shaped epiphysis, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Sho... |
ORPHA:474 |
Coxoauricular Syndrome |
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Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation |
ORPHA:1508 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Carnitine Deficiency, Systemic Primary |
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Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... |
OMIM:212140 |
Propionic Acidemia |
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Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Ornithine Transcarbamylase Deficiency |
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Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Thoracomelic Dysplasia |
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Abnormality of fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal m... |
ORPHA:1803 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Glycosuria, In... |
ORPHA:2298 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Alg12-Cdg |
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Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Recurrent hypoglycemia |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ia |
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Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Steatorrhea |
OMIM:212065 |
Abetalipoproteinemia |
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Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... |
ORPHA:14 |
Multiple Endocrine Neoplasia, Type I |
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Pituitary adenoma, Glucagonoma, Increased circulating cortisol level, Adrenocortical adenoma, Car... |
OMIM:131100 |
Femoral-Facial Syndrome |
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Coxa vara, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Radioulnar synostosis, ... |
ORPHA:1988 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Hypoplastic pelvis, Hypoplastic s... |
OMIM:618022 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618838 |
Glycogen Storage Disease Ixc |
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Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Abdominal obesity, Truncal obesity, Hypercholesterolemia |
OMIM:615812 |
Secondary Intestinal Lymphangiectasia |
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B-cell lymphoma, Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Dec... |
ORPHA:90363 |
Kaufman Oculocerebrofacial Syndrome |
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Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... |
OMIM:617049 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypophosphatemia, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus, Hypouri... |
OMIM:616026 |
Verloove Vanhorick-Brubakk Syndrome |
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Abnormality of femur morphology, Abnormal metacarpal morphology, Tarsal synostosis, Abnormal pelv... |
ORPHA:3429 |
Grant Syndrome |
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Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal pelvic girdle bone morphology |
ORPHA:2097 |
Dubowitz Syndrome |
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Hypocholesterolemia, Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma |
OMIM:223370 |
Codas Syndrome |
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Congenital hip dislocation, Brachydactyly, Abnormal epiphysis morphology, Abnormal pelvic girdle ... |
ORPHA:1458 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Aredyld Syndrome |
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Abnormal pelvic girdle bone morphology, Lipoatrophy, Brachydactyly, Abnormal dental enamel morpho... |
ORPHA:1133 |
Acrofacial Dysostosis, RodrÃguez Type |
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Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Radioulnar synostosis, Aplasia/Hypoplasia of t... |
ORPHA:1788 |
Cleidocranial Dysplasia |
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Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly... |
ORPHA:1452 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Failure to thrive, Breast carcinoma, Decreased circulating cortisol level, Endometrial carcinoma,... |
ORPHA:90790 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Short phalanx of finger, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, Br... |
ORPHA:1422 |
Isolated Epispadias |
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Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Smith-Lemli-Opitz Syndrome |
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Failure to thrive, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hypoalbuminemia, Facial ca... |
OMIM:270400 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
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Hyperactivity |
ORPHA:88616 |
Intellectual Disability, Buenos-Aires Type |
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Abnormal pelvic girdle bone morphology, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:3079 |
Harrod Syndrome |
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Arachnodactyly, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology |
ORPHA:2115 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Aplasia/Hypoplasia of the phalanges of the toes, Finger syndactyly, Split foot, Abnormal metacarp... |
ORPHA:1112 |
Glycogen Storage Disease Ic |
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Hyperlipidemia, Hepatoblastoma, Hepatocellular carcinoma, Hypoglycemia, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Camurati-Engelmann Disease |
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Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... |
ORPHA:1328 |
Cartilage-Hair Hypoplasia |
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Tibial bowing, Metaphyseal dysplasia, Metaphyseal chondrodysplasia, Abnormal hip bone morphology,... |
ORPHA:175 |
Caudal Regression Syndrome |
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Abnormal pelvic girdle bone morphology, Abnormal iliac wing morphology |
ORPHA:3027 |