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GTR Home > Conditions/Phenotypes > Congenital generalized lipodystrophy type 1

Congenital generalized lipodystrophy type 1

Synonyms
BRUNZELL SYNDROME, AGPAT2-RELATED; Berardinelli-Seip Congenital Lipodystrophy Type 1

Summary

Excerpted from the GeneReview: Berardinelli-Seip Congenital Lipodystrophy
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lionel Van Maldergem
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Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta, LPLAT2, AGPAT2
    Summary: 1-acylglycerol-3-phosphate O-acyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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