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Summary
HYPERCHOLANEMIA, FAMILIAL FHCA
607748
OMIM = Online Medalian Inheritance of Men
238475
1q14.12, 9q21.11, 9q31.1
rare
autosomal recessive
mutation in the TJP2 / BAAT / EPHX1 gene
symptoms
onset, adolescent
onset, childhood
laboratory finding
Cholesterol mmol/lserum
Literature
Vanwong N,et al.Hyperuricemia in Children and Adolescents with Autism Spectrum Disorder Treated with Risperidone: The Risk Factors for Metabolic Adverse EffectsFront Pharmacol505272017
Oyarzabal A,et al.A novel regulatory defect in the branched-chain +¦-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine diseaseHum Mutat342355-3622013
Dixon BJ,et al.Neuroprotective Strategies after Neonatal Hypoxic Ischemic EncephalopathyInt J Mol Sci16922368-4012015