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Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)

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Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.

Also Known As:

Berardinelli-Seip Congenital Lipodystrophy; Lipodystrophy, Congenital Generalized; Berardinelli-Seip Congenital Lipodystrophy, Type 1; Berardinelli-Seip Congenital Lipodystrophy, Type 2; Congenital Generalized Lipodystrophy Type 1; Congenital Generalized Lipodystrophy Type 2; Lipodystrophy, Congenital Generalized, Type 1; Lipodystrophy, Congenital Generalized, Type 2; Berardinelli Seip Congenital Lipodystrophy; Berardinelli Seip Congenital Lipodystrophy, Type 1; Berardinelli Seip Congenital Lipodystrophy, Type 2; Congenital Generalized Lipodystrophies; Congenital Lipodystrophy, Berardinelli-Seip; Generalized Lipodystrophies, Congenital; Generalized Lipodystrophy, Congenital; Lipodystrophies, Congenital Generalized; Lipodystrophy, Berardinelli-Seip Congenital

Networked: 90 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Insulin Resistance
2.	Donohue Syndrome
3.	Lipodystrophy
4.	Diabetes Mellitus
5.	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)

Experts

1.	Garg, Abhimanyu: 9 articles (02/2014 - 05/2002)
2.	Gorden, Phillip: 5 articles (08/2014 - 10/2003)
3.	Agarwal, Anil K: 5 articles (02/2014 - 05/2002)
4.	Simha, Vinaya: 5 articles (08/2009 - 11/2002)
5.	O'Rahilly, Stephen: 4 articles (03/2015 - 10/2003)
6.	Brandão-Neto, José: 4 articles (01/2010 - 06/2004)
7.	Capeau, J: 4 articles (11/2005 - 01/2001)
8.	Auer-Grumbach, Michaela: 3 articles (05/2008 - 03/2005)
9.	Vigouroux, C: 3 articles (11/2005 - 01/2001)
10.	Magré, J: 3 articles (11/2005 - 01/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Generalized Lipodystrophy:

1.	FenfluramineIBA 06/01/1977 - "Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine." 05/01/1978 - "Fat cell size and lipid composition of subcutaneous tissue from 3 patients with congenital generalized lipodystrophy have been measured before and after treatment with either pimozide, fenfluramine or hypophysectomy. "
2.	Lipoatrophic diabetesIBA 06/01/1977 - "This drug improved the general condition of the rabbits with lipoatrophic diabetes, as well as that of the patient with congenital generalized lipodystrophy. " 06/01/1977 - "Lipoatrophic diabetes has been produced in rabbits by injection of a fraction prepared from the urine from patients with congenital generalized lipodystrophy. " 06/01/1977 - "Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine." 09/01/2002 - "A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies."
3.	Berardinelli-Seip congenital lipodystrophy type 2IBA 03/01/1973 - "Studies in congenital generalized lipodystrophy (Seip-Berardinelli syndrome). " 09/01/2014 - "Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome." 09/01/2011 - "To confirm the clinical hypothesis of congenital generalized lipodystrophy (CGL) or Berardinelli-Seip syndrome, the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed. " 06/01/2011 - "[Congenital generalized lipodystrophy versus Berardinelli-Seip syndrome]." 10/01/2009 - "Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes. "
4.	LeptinIBA 06/01/2010 - "Recently, in a 4-month proof-of-concept trial, beneficial metabolic effects were reported in non-diabetic children with Berardinelli-Seip congenital lipodystrophy (BSCL); this information prompted us to hypothesize that long-term leptin-replacement therapy might improve or reverse the early complications of the disease in these patients. " 09/01/2015 - "Leptin replacement is an approved therapy for the metabolic complications of congenital generalized lipodystrophy. " 09/01/2015 - "However, contrary to what we observed in patients with congenital generalized lipodystrophy (CGL), we did not detect consistently very low leptin levels in APL patients. " 08/01/2014 - "PATIENTS with congenital generalized lipodystrophy (CGL) have low leptin due to deficient adipose mass and serve as models of leptin deficiency and replacement. " 02/01/2012 - "A young woman with congenital generalized lipodystrophy receiving leptin therapy experienced menarche, conceived spontaneously, and delivered a liveborn male neonate. "
5.	Insulin (Novolin)FDA Link 06/01/1996 - "The results suggest a postreceptor defect in the action of insulin in congenital generalized lipodystrophy. " 10/01/1987 - "Insulin specific receptors on red blood cells and cultured fibroblasts were investigated in a male infant affected of congenital generalized lipodystrophy (CGL). " 02/03/1977 - "Mononuclear leukocytes from patients with congenital generalized lipodystrophy bound significantly less insulin than cells from normal subjects (P less than 0.01). " 02/03/1977 - "Patients with congenital generalized lipodystrophy are extremely insulin resistant. " 02/03/1977 - "Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy."
6.	Insulin-Like Growth Factor I (IGF-1)IBA 10/01/2006 - "Long-term effects of recombinant human insulin-like growth factor I treatment on glucose and lipid metabolism and the growth of a patient with congenital generalized lipodystrophy." 05/01/1993 - "This study assessed the potential effectiveness of IGF-I as a blood glucose lowering agent in patients with extreme insulin resistance syndromes, including type A insulin resistance, congenital generalized lipodystrophy, and leprechaunism. "
7.	Blood Glucose (Blood Sugar)IBA 05/01/1993 - "This study assessed the potential effectiveness of IGF-I as a blood glucose lowering agent in patients with extreme insulin resistance syndromes, including type A insulin resistance, congenital generalized lipodystrophy, and leprechaunism. "
8.	Spastic paraplegia 17IBA 09/15/2010 - "Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin. " 09/01/2007 - "Mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been identified in families with distal hereditary motor neuropathy (dHMN) and in families with SPG17-linked Silver syndrome. " 03/01/2005 - "Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. " 02/01/2015 - "Heterozygous mutations of its causative gene, the Berardinelli-Seip congenital lipodystrophy gene, have a broader spectrum of phenotypes including Silver syndrome, distal hereditary motor neuropathy type V and Charcot-Marie-Tooth disease type 2. We report a Chinese family carrying the S90L mutation with Silver syndrome and discuss our literature review of the clinical phenotypes of S90L. " 09/01/2010 - "Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. "
9.	Caveolin 1IBA 09/15/2008 - "Mutations in three genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2), and Caveolin-1 (CAV1) are associated with the three subtypes of this disorder, CGL1, CGL2 and CGL3, respectively. " 04/01/2008 - "Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy." 01/01/2014 - "The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes. " 06/01/2009 - "So far, three CGL loci: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and caveolin 1 (CAV1) and four FPL loci: lamin A/C (LMNA), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2) and zinc metalloprotease (ZMPSTE24), have been identified. " 08/01/2009 - "Eight different genetic loci, including 1-acylglycerol-3-phosphate-O-acyltransferase 2, Berardinelli-Seip congenital lipodystrophy 2, caveolin 1, lamin A/C, peroxisome proliferator-activated receptor gamma, v-AKT murine thymoma oncogene homolog 2, zinc metalloprotease and lipase maturation factor 1 have been described linked to different lipodystrophy syndromes. "
10.	Lamin Type A (Lamin A)IBA 01/01/2001 - "The two lipodystrophic syndromes which molecular defect is identified are the familial partial lipodystrophy of the Dunnigan type, due to mutations of the lamin A/C gene, and the congenital generalized lipodystrophy, linked to alterations in the protein seipin. " 10/01/2003 - "Monogenic forms of insulin resistance, such as familial partial lipodystrophy, which results from mutations in either LMNA (encoding lamin A/C) or PPARG (encoding peroxisome proliferator-activated receptor gamma), and congenital generalized lipodystrophy, which results from mutations in either AGPAT2 (encoding 1-acylglycerol-3-phosphate O-acyltransferase) or BSCL2 (encoding seipin), can display features seen in the common metabolic syndrome. " 06/01/2009 - "So far, three CGL loci: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and caveolin 1 (CAV1) and four FPL loci: lamin A/C (LMNA), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2) and zinc metalloprotease (ZMPSTE24), have been identified. " 08/01/2009 - "Eight different genetic loci, including 1-acylglycerol-3-phosphate-O-acyltransferase 2, Berardinelli-Seip congenital lipodystrophy 2, caveolin 1, lamin A/C, peroxisome proliferator-activated receptor gamma, v-AKT murine thymoma oncogene homolog 2, zinc metalloprotease and lipase maturation factor 1 have been described linked to different lipodystrophy syndromes. "

Therapies and Procedures

1.	Kidney Transplantation 03/01/2004 - "Successful renal transplantation in a patient with congenital generalized lipodystrophy: a case report."
2.	Total Parenteral Nutrition 11/01/1993 - "A ten-fold increase in daily insulin requirements during the administration of total parenteral nutrition (TPN) is described in a patient with congenital generalized lipodystrophy, insulin-requiring diabetes mellitus, and acanthosis nigricans during an episode of acute pancreatitis secondary to hypertriglyceridaemia. "
3.	Hypophysectomy 05/01/1978 - "Fat cell size and lipid composition of subcutaneous tissue from 3 patients with congenital generalized lipodystrophy have been measured before and after treatment with either pimozide, fenfluramine or hypophysectomy. "
4.	Drug Therapy (Chemotherapy) 11/01/2014 - "Early recognition and differentiation from other congenital generalized lipodystrophies help in the initiation of appropriate preventive and therapeutic measures such as lifestyle modification and pharmacotherapy that helps postpone the onset of metabolic syndrome. "
5.	Aftercare (After-Treatment) 05/01/1978 - "Fat cell size and lipid composition of subcutaneous tissue from 3 patients with congenital generalized lipodystrophy have been measured before and after treatment with either pimozide, fenfluramine or hypophysectomy. "