Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... |
ORPHA:1146 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight |
ORPHA:314811 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-peptide level, Genital neoplasm, ... |
ORPHA:2126 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm... |
ORPHA:79237 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:429 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... |
ORPHA:79644 |
Léri-Weill Dyschondrosteosis |
|
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... |
ORPHA:240 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... |
ORPHA:2928 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology |
ORPHA:1508 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Jeune Syndrome |
|
Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab... |
ORPHA:474 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... |
OMIM:144750 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy... |
ORPHA:1803 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir... |
OMIM:256050 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Failure to thrive |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone ... |
ORPHA:1988 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Dentinogenesis i... |
OMIM:610967 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Secondary Intestinal Lymphangiectasia |
|
B-cell lymphoma, Reduced circulating transferrin concentration, Lymphoma, Hypoalbuminemia, Hypoch... |
ORPHA:90363 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f... |
OMIM:307800 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist... |
OMIM:123000 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuria, Hypophospha... |
OMIM:616026 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Pituitary adenoma, Insulinoma, Increa... |
OMIM:131100 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Hypocholesterolemia |
OMIM:223370 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormal pelvic girdle bone morphology |
OMIM:166600 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Abnormal shoulder morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1422 |
Smith-Lemli-Opitz Syndrome |
|
Facial capillary hemangioma, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentra... |
OMIM:270400 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology, Inguinal hernia |
OMIM:600057 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder |
OMIM:617028 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... |
ORPHA:1112 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |