Congenital and Familial Lipodystrophy Panel
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چکیده
Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrophy. This Panel is included in the Comprehensive Metabolism Panel.
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Congenital and Familial Lipodystrophy Panel
Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...
متن کاملCongenital and Familial Lipodystrophy Panel
Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...
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BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
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Background: Mutations in the PTRF-CAVIN gene, coding for cavin-1, cause congenital
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The unique clinical manifestations of congenital partial lipodystrophy are herein reported due to its rarity.
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