Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Obesity, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypocholesterolemia, Failure... |
OMIM:610883 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... |
ORPHA:71 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Abnormal subcutaneous fat tissue ... |
OMIM:212065 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Abnormal adipose tissue morphology, Hypoalbuminemia,... |
ORPHA:79324 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... |
ORPHA:14 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... |
ORPHA:293964 |
Dubowitz Syndrome |
|
Hyperactivity, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Cholestatic liver disease, Hypoal... |
OMIM:270400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... |
ORPHA:404454 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... |
ORPHA:90363 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |