Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Chylomicron Retention Disease |
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Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Obesity |
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Obesity, Increased waist to hip ratio, Decreased resting energy expenditure |
OMIM:601665 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic f... |
OMIM:607765 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Lipase Deficiency, Combined |
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Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Potocki-Lupski Syndrome |
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Failure to thrive, Hypocholesterolemia, Hyperactivity, Small for gestational age |
OMIM:610883 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Hyperac... |
ORPHA:363400 |
Analbuminemia |
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Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Congenital Disorder Of Glycosylation, Type Ia |
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Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Elevated hepatic transaminase,... |
OMIM:212065 |
Chylomicron Retention Disease |
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Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... |
ORPHA:71 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hypertriglyceridemia, Hyperactivity, Hepatomegaly |
OMIM:615924 |
Mandibuloacral Dysplasia |
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Increased adipose tissue around the neck, Lipoatrophy, Increased subcutaneous truncal adipose tis... |
ORPHA:2457 |
Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Alg12-Cdg |
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Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Elevated hepatic transamina... |
ORPHA:79324 |
Lipodystrophy, Familial Partial, Type 2 |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hepatomegaly, Loss... |
OMIM:151660 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Abetalipoproteinemia |
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Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hyperactivity,... |
ORPHA:247585 |
Dubowitz Syndrome |
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Hypocholesterolemia, Hyperactivity, Inguinal hernia |
OMIM:223370 |
Kaufman Oculocerebrofacial Syndrome |
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Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
13Q12.3 Microdeletion Syndrome |
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Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Camptodactyly, Obesity |
ORPHA:412035 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity, Hepatomegaly, Inguinal hernia, Splenomegaly, Umbilical hernia |
OMIM:252900 |
Smith-Lemli-Opitz Syndrome |
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Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Hypera... |
OMIM:270400 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Cirrhosis, Decreased... |
ORPHA:90363 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased ... |
ORPHA:71212 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Micronodular... |
ORPHA:404454 |
Spastic Paraplegia 29, Autosomal Dominant |
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Neonatal hyperbilirubinemia, Hyperactivity, Hiatus hernia |
OMIM:609727 |
Legius Syndrome |
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Attention deficit hyperactivity disorder, Hyperactivity, Multiple lipomas, Xanthelasma |
ORPHA:137605 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Hyperammonemia, Small for gestational age,... |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Im |
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Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |