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Lipodystrophy, congenital generalized, type 5(CGL5)

MedGen UID:
1049866
•Concept ID:
CN376065
•
Disease or Syndrome
Synonym: CGL5
 
Gene (location): PCYT1A (3q29)
 
Monarch Initiative: MONDO:0958023
OMIM®: 620680

Definition

Congenital generalized lipodystrophy type 5 (CGL5) is an autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Affected individuals also have short stature (Payne et al., 2014). For a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). [from OMIM]

Professional guidelines

PubMed

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.
Araujo-Vilar D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M, Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR, González-Méndez B, Casanueva FF
Endocrine 2015 May;49(1):139-47. Epub 2014 Nov 4 doi: 10.1007/s12020-014-0450-4. PMID: 25367549Free PMC Article

Recent clinical studies

Etiology

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I, Tuysuz B, Ozbek MN, Tanrikulu S, Celik Guler M, Karhan AN, Denkboy Ongen Y, Gunes N, Soyaltin UE, Altay C, Nur B, Ozalkak S, Akgun Dogan O, Dursun F, Pekkolay Z, Eren MA, Usta Y, Ozisik S, Ozgen Saydam B, Adiyaman SC, Unal MC, Gungor Semiz G, Turan I, Eren E, Kayserili H, Jeru I, Vigouroux C, Atik T, Onay H, Ozen S, Arioglu Oral E, Akinci B
Diabetes Obes Metab 2023 Jul;25(7):1950-1963. Epub 2023 Apr 11 doi: 10.1111/dom.15061. PMID: 36946378
Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy.
Lima GEDCP, Fernandes VO, Montenegro APDR, Carvalho AB, Karbage LBAS, Aguiar LB, Macedo MSR, Ferreira LAA, Montenegro Júnior RM
Arch Endocrinol Metab 2019 Feb;63(1):79-83. doi: 10.20945/2359-3997000000096. PMID: 30864635Free PMC Article
A YOUNG ADULT WITH GENERALIZED LIPODYSTROPHY AND DIABETES MELLITUS (CASE REPORT).
Çelo E, Kalari B, Toti F
Georgian Med News 2018 Apr;(277):27-31. PMID: 29745909
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
Nishiyama A, Yagi M, Awano H, Okizuka Y, Maeda T, Yoshida S, Takeshima Y, Matsuo M
Pediatr Int 2009 Dec;51(6):775-9. Epub 2009 Mar 31 doi: 10.1111/j.1442-200X.2009.02863.x. PMID: 19438831
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy.
Park JY, Chong AY, Cochran EK, Kleiner DE, Haller MJ, Schatz DA, Gorden P
J Clin Endocrinol Metab 2008 Jan;93(1):26-31. Epub 2007 Oct 16 doi: 10.1210/jc.2007-1856. PMID: 17940115Free PMC Article

Diagnosis

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I, Tuysuz B, Ozbek MN, Tanrikulu S, Celik Guler M, Karhan AN, Denkboy Ongen Y, Gunes N, Soyaltin UE, Altay C, Nur B, Ozalkak S, Akgun Dogan O, Dursun F, Pekkolay Z, Eren MA, Usta Y, Ozisik S, Ozgen Saydam B, Adiyaman SC, Unal MC, Gungor Semiz G, Turan I, Eren E, Kayserili H, Jeru I, Vigouroux C, Atik T, Onay H, Ozen S, Arioglu Oral E, Akinci B
Diabetes Obes Metab 2023 Jul;25(7):1950-1963. Epub 2023 Apr 11 doi: 10.1111/dom.15061. PMID: 36946378
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
Costa S, Sampaio L, Berta Sousa A, Xing C, Agarwal AK, Garg A
J Clin Endocrinol Metab 2022 Aug 18;107(9):2433-2438. doi: 10.1210/clinem/dgac406. PMID: 35857714Free PMC Article
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF, Galvão Ururahy MA, de Melo Campos JTA
Mutat Res Rev Mutat Res 2019 Jul-Sep;781:30-52. Epub 2019 Mar 23 doi: 10.1016/j.mrrev.2019.03.005. PMID: 31416577
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
Rahman OU, Khawar N, Khan MA, Ahmed J, Khattak K, Al-Aama JY, Naeem M, Jelani M
Diagn Pathol 2013 May 9;8:78. doi: 10.1186/1746-1596-8-78. PMID: 23659685Free PMC Article
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA, Joy TR, Al-Attar SA, Rutt BK
J Lipid Res 2007 Jul;48(7):1433-44. Epub 2007 Mar 20 doi: 10.1194/jlr.R700004-JLR200. PMID: 17374881

Therapy

Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.
Brener A, Zeitlin L, Wilnai Y, Birk OS, Rosenfeld T, Chorna E, Lebenthal Y
Acta Diabetol 2022 May;59(5):711-719. Epub 2022 Feb 8 doi: 10.1007/s00592-022-01854-7. PMID: 35137278
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
Fukaishi T, Minami I, Masuda S, Miyachi Y, Tsujimoto K, Izumiyama H, Hashimoto K, Yoshida M, Takahashi S, Kashimada K, Morio T, Kosaki K, Maezawa Y, Yokote K, Yoshimoto T, Yamada T
Endocr J 2020 Feb 28;67(2):211-218. Epub 2019 Nov 8 doi: 10.1507/endocrj.EJ19-0226. PMID: 31708526
A YOUNG ADULT WITH GENERALIZED LIPODYSTROPHY AND DIABETES MELLITUS (CASE REPORT).
Çelo E, Kalari B, Toti F
Georgian Med News 2018 Apr;(277):27-31. PMID: 29745909
Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl.
Roth T, Nair S, Kumar A
J Clin Res Pediatr Endocrinol 2010;2(4):176-9. Epub 2010 Nov 9 doi: 10.4274/jcrpe.v2i4.176. PMID: 21274320Free PMC Article
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy.
Park JY, Chong AY, Cochran EK, Kleiner DE, Haller MJ, Schatz DA, Gorden P
J Clin Endocrinol Metab 2008 Jan;93(1):26-31. Epub 2007 Oct 16 doi: 10.1210/jc.2007-1856. PMID: 17940115Free PMC Article

Prognosis

Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.
Brener A, Zeitlin L, Wilnai Y, Birk OS, Rosenfeld T, Chorna E, Lebenthal Y
Acta Diabetol 2022 May;59(5):711-719. Epub 2022 Feb 8 doi: 10.1007/s00592-022-01854-7. PMID: 35137278
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.
Araujo-Vilar D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M, Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR, González-Méndez B, Casanueva FF
Endocrine 2015 May;49(1):139-47. Epub 2014 Nov 4 doi: 10.1007/s12020-014-0450-4. PMID: 25367549Free PMC Article
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
Nishiyama A, Yagi M, Awano H, Okizuka Y, Maeda T, Yoshida S, Takeshima Y, Matsuo M
Pediatr Int 2009 Dec;51(6):775-9. Epub 2009 Mar 31 doi: 10.1111/j.1442-200X.2009.02863.x. PMID: 19438831
Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy.
Park JY, Chong AY, Cochran EK, Kleiner DE, Haller MJ, Schatz DA, Gorden P
J Clin Endocrinol Metab 2008 Jan;93(1):26-31. Epub 2007 Oct 16 doi: 10.1210/jc.2007-1856. PMID: 17940115Free PMC Article
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.
Jin J, Cao L, Zhao Z, Shen S, Kiess W, Zhi D, Ye R, Cheng R, Chen L, Yang Y, Luo F
Eur J Endocrinol 2007 Dec;157(6):783-7. doi: 10.1530/EJE-07-0393. PMID: 18057387

Clinical prediction guides

Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.
Okawa MC, Tuska RM, Lightbourne M, Abel BS, Walter M, Dai Y, Cochran E, Brown RJ
J Clin Endocrinol Metab 2023 Dec 21;109(1):e96-e106. doi: 10.1210/clinem/dgad491. PMID: 37595266Free PMC Article
Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy.
Lima GEDCP, Fernandes VO, Montenegro APDR, Carvalho AB, Karbage LBAS, Aguiar LB, Macedo MSR, Ferreira LAA, Montenegro Júnior RM
Arch Endocrinol Metab 2019 Feb;63(1):79-83. doi: 10.20945/2359-3997000000096. PMID: 30864635Free PMC Article
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.
Ponte CMM, Fernandes VO, Gurgel MHC, Vasconcelos ITGF, Karbage LBAS, Liberato CBR, Negrato CA, Gomes MB, Montenegro APDR, Montenegro Júnior RM
BMC Cardiovasc Disord 2018 Jan 12;18(1):6. doi: 10.1186/s12872-017-0738-4. PMID: 29329523Free PMC Article
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients.
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Baracho MFP, Bandeira F, Capistrano L, Freire Neto FP, Jeronimo SMB
J Clin Densitom 2018 Jan-Mar;21(1):61-67. Epub 2016 Nov 25 doi: 10.1016/j.jocd.2016.10.002. PMID: 27894728
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy.
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Baracho MFP, Winzenrieth R, Bandeira F, Mendes-Aguiar CO, Neto FPF, Ferreira LC, Rosen CJ, Jeronimo SMB
Bone 2017 Aug;101:21-25. Epub 2017 Apr 6 doi: 10.1016/j.bone.2017.03.053. PMID: 28390904Free PMC Article

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