Genetic Lipodystrophies

Abhimanyu Garg

doi:10.1016/B978-0-12-812535-9.00002-9

Genetic Lipodystrophies

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Inherited lipodystrophies are rare disorders characterized by selective loss of body fat and predisposition to diabetes, hypertriglyceridemia, hepatic steatosis and atherosclerotic vascular disease. The autosomal-recessive congenital generalized lipodystrophy is due to mutations in AGPAT2, BSCL2, CAV1, or CAVIN1 and autosomal-dominant familial partial lipodystrophy is due to mutations in LMNA, PPARG, ADRA2A, AKT2, or PLIN1. Other extremely rare types are due to mutations in CIDEC, LIPE, LMNA, ZMPSTE24, PIK3R1, POLR3A, FBN1, CAV1, PSMB8, POLD1, or unknown genes. The clinical management is challenging and includes cosmetic surgery and treatment of metabolic complications with diet, exercise, hypoglycemic and lipid-lowering agents, and metreleptin.

Original language	English (US)
Title of host publication	Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Subtitle of host publication	Metabolic Disorders
Publisher	Elsevier
Pages	25-48
Number of pages	24
ISBN (Electronic)	9780128125359
DOIs	https://doi.org/10.1016/B978-0-12-812535-9.00002-9
State	Published - Jan 1 2020
Externally published	Yes

Keywords

Adipose tissue
ADRA2A
AGPAT2
AKT2
Autoinflammatory syndromes
BSCL2
CAV1
CAVIN1
CIDEC
Congenital generalized lipodystrophy
Familial partial lipodystrophy
Lamin A/C
LIPE
Lipodystrophy
Mandibuloacral dysplasia
MFN2
PIK3R1
PLIN1
POL3RA
POLD1
PPARG
Progeroid syndrome
PSMB8
PTRF

ASJC Scopus subject areas

General Medicine
General Biochemistry, Genetics and Molecular Biology

Access to Document

10.1016/B978-0-12-812535-9.00002-9

Cite this

@inbook{44507094ee6041f1b38dc63491cac47f,

title = "Genetic Lipodystrophies",

abstract = "Inherited lipodystrophies are rare disorders characterized by selective loss of body fat and predisposition to diabetes, hypertriglyceridemia, hepatic steatosis and atherosclerotic vascular disease. The autosomal-recessive congenital generalized lipodystrophy is due to mutations in AGPAT2, BSCL2, CAV1, or CAVIN1 and autosomal-dominant familial partial lipodystrophy is due to mutations in LMNA, PPARG, ADRA2A, AKT2, or PLIN1. Other extremely rare types are due to mutations in CIDEC, LIPE, LMNA, ZMPSTE24, PIK3R1, POLR3A, FBN1, CAV1, PSMB8, POLD1, or unknown genes. The clinical management is challenging and includes cosmetic surgery and treatment of metabolic complications with diet, exercise, hypoglycemic and lipid-lowering agents, and metreleptin.",

keywords = "Adipose tissue, ADRA2A, AGPAT2, AKT2, Autoinflammatory syndromes, BSCL2, CAV1, CAVIN1, CIDEC, Congenital generalized lipodystrophy, Familial partial lipodystrophy, Lamin A/C, LIPE, Lipodystrophy, Mandibuloacral dysplasia, MFN2, PIK3R1, PLIN1, POL3RA, POLD1, PPARG, Progeroid syndrome, PSMB8, PTRF",

author = "Abhimanyu Garg",

year = "2020",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-812535-9.00002-9",

language = "English (US)",

pages = "25--48",

booktitle = "Emery and Rimoin{\textquoteright}s Principles and Practice of Medical Genetics and Genomics",

publisher = "Elsevier",

}

TY - CHAP

T1 - Genetic Lipodystrophies

AU - Garg, Abhimanyu

PY - 2020/1/1

Y1 - 2020/1/1

N2 - Inherited lipodystrophies are rare disorders characterized by selective loss of body fat and predisposition to diabetes, hypertriglyceridemia, hepatic steatosis and atherosclerotic vascular disease. The autosomal-recessive congenital generalized lipodystrophy is due to mutations in AGPAT2, BSCL2, CAV1, or CAVIN1 and autosomal-dominant familial partial lipodystrophy is due to mutations in LMNA, PPARG, ADRA2A, AKT2, or PLIN1. Other extremely rare types are due to mutations in CIDEC, LIPE, LMNA, ZMPSTE24, PIK3R1, POLR3A, FBN1, CAV1, PSMB8, POLD1, or unknown genes. The clinical management is challenging and includes cosmetic surgery and treatment of metabolic complications with diet, exercise, hypoglycemic and lipid-lowering agents, and metreleptin.

AB - Inherited lipodystrophies are rare disorders characterized by selective loss of body fat and predisposition to diabetes, hypertriglyceridemia, hepatic steatosis and atherosclerotic vascular disease. The autosomal-recessive congenital generalized lipodystrophy is due to mutations in AGPAT2, BSCL2, CAV1, or CAVIN1 and autosomal-dominant familial partial lipodystrophy is due to mutations in LMNA, PPARG, ADRA2A, AKT2, or PLIN1. Other extremely rare types are due to mutations in CIDEC, LIPE, LMNA, ZMPSTE24, PIK3R1, POLR3A, FBN1, CAV1, PSMB8, POLD1, or unknown genes. The clinical management is challenging and includes cosmetic surgery and treatment of metabolic complications with diet, exercise, hypoglycemic and lipid-lowering agents, and metreleptin.

KW - Adipose tissue

KW - ADRA2A

KW - AGPAT2

KW - AKT2

KW - Autoinflammatory syndromes

KW - BSCL2

KW - CAV1

KW - CAVIN1

KW - CIDEC

KW - Congenital generalized lipodystrophy

KW - Familial partial lipodystrophy

KW - Lamin A/C

KW - LIPE

KW - Lipodystrophy

KW - Mandibuloacral dysplasia

KW - MFN2

KW - PIK3R1

KW - PLIN1

KW - POL3RA

KW - POLD1

KW - PPARG

KW - Progeroid syndrome

KW - PSMB8

KW - PTRF

UR - http://www.scopus.com/inward/record.url?scp=85147597683&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85147597683&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-812535-9.00002-9

DO - 10.1016/B978-0-12-812535-9.00002-9

M3 - Chapter

AN - SCOPUS:85147597683

SP - 25

EP - 48

BT - Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

PB - Elsevier

ER -

Genetic Lipodystrophies

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this