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What is Berardinelli-Seip congenital lipodystrophy, type 1?

What is Berardinelli-Seip congenital lipodystrophy, type 1?

  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.

Berardinelli-Seip congenital lipodystrophy, type 1: Introduction

Types of Berardinelli-Seip congenital lipodystrophy, type 1:

Broader types of Berardinelli-Seip congenital lipodystrophy, type 1:

How serious is Berardinelli-Seip congenital lipodystrophy, type 1?

Complications of Berardinelli-Seip congenital lipodystrophy, type 1: see complications of Berardinelli-Seip congenital lipodystrophy, type 1

What causes Berardinelli-Seip congenital lipodystrophy, type 1?

Causes of Berardinelli-Seip congenital lipodystrophy, type 1: see causes of Berardinelli-Seip congenital lipodystrophy, type 1

What are the symptoms of Berardinelli-Seip congenital lipodystrophy, type 1?

Symptoms of Berardinelli-Seip congenital lipodystrophy, type 1: see symptoms of Berardinelli-Seip congenital lipodystrophy, type 1

Complications of Berardinelli-Seip congenital lipodystrophy, type 1: see complications of Berardinelli-Seip congenital lipodystrophy, type 1

Berardinelli-Seip congenital lipodystrophy, type 1: Testing

Diagnostic testing: see tests for Berardinelli-Seip congenital lipodystrophy, type 1.

Misdiagnosis: see misdiagnosis and Berardinelli-Seip congenital lipodystrophy, type 1.

How is it treated?

Doctors and Medical Specialists for Berardinelli-Seip congenital lipodystrophy, type 1: Medical Geneticist ; see also doctors and medical specialists for Berardinelli-Seip congenital lipodystrophy, type 1.
Treatments for Berardinelli-Seip congenital lipodystrophy, type 1: see treatments for Berardinelli-Seip congenital lipodystrophy, type 1

Name and Aliases of Berardinelli-Seip congenital lipodystrophy, type 1

Main name of condition: Berardinelli-Seip congenital lipodystrophy, type 1

Other names or spellings for Berardinelli-Seip congenital lipodystrophy, type 1:

CGL1, BSCL1, lipodystrophy, Berardinelli-Seip congenital, type 1, Brunzell syndrome [AGPAT2-related]

 

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