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CIDEC-related familial partial lipodystrophy(FPLD5)

MedGen UID:
815270
•Concept ID:
C3808940
•
Disease or Syndrome
Synonyms: Familial partial lipodystrophy 5; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
SNOMED CT: Cell death inducing DFFA like effector C-related familial partial lipodystrophy (1197749008); CIDEC-related familial partial lipodystrophy (1197749008); FPLD5 - familial partial lipodystrophy type 5 (1197749008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CIDEC (3p25.3)
 
Monarch Initiative: MONDO:0014098
OMIM®: 615238
Orphanet: ORPHA435651

Definition

A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidaemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. [from SNOMEDCT_US]

Clinical features

From HPO
Irregular menstruation
MedGen UID:
56379
•Concept ID:
C0156404
•
Finding
Abnormally high variation in the amount of time between periods.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Hepatic steatosis
MedGen UID:
398225
•Concept ID:
C2711227
•
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
See: Feature record | Search on this feature
Lipodystrophy
MedGen UID:
6111
•Concept ID:
C0023787
•
Disease or Syndrome
Degenerative changes of the fat tissue.
See: Feature record | Search on this feature
Diabetic ketoacidosis
MedGen UID:
8351
•Concept ID:
C0011880
•
Disease or Syndrome
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
See: Feature record | Search on this feature
Hypertriglyceridemia
MedGen UID:
167238
•Concept ID:
C0813230
•
Finding
An abnormal increase in the level of triglycerides in the blood.
See: Feature record | Search on this feature
Increased C-peptide level
MedGen UID:
894029
•Concept ID:
C4280763
•
Finding
An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.
See: Feature record | Search on this feature
Acanthosis nigricans
MedGen UID:
54
•Concept ID:
C0000889
•
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
See: Feature record | Search on this feature
Decreased serum leptin
MedGen UID:
373413
•Concept ID:
C1837802
•
Finding
A decreased concentration of leptin in the blood.
See: Feature record | Search on this feature
Decreased adiponectin level
MedGen UID:
892903
•Concept ID:
C4073127
•
Finding
A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy.
Aslesh T, Yokota T
Methods Mol Biol 2020;2176:69-85. doi: 10.1007/978-1-0716-0771-8_5. PMID: 32865783
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB
Diabetes 2018 Jun;67(6):1086-1092. Epub 2018 Apr 5 doi: 10.2337/db17-1236. PMID: 29622583Free PMC Article
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article

Recent clinical studies

Etiology

Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Advances in the care of lipodystrophies.
Shamsudeen I, Hegele RA
Curr Opin Endocrinol Diabetes Obes 2022 Apr 1;29(2):152-160. doi: 10.1097/MED.0000000000000695. PMID: 34839327
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D
Presse Med 2021 Nov;50(3):104071. Epub 2021 Oct 2 doi: 10.1016/j.lpm.2021.104071. PMID: 34610417
A Comprehensive Update on the Chylomicronemia Syndrome.
Goldberg RB, Chait A
Front Endocrinol (Lausanne) 2020;11:593931. Epub 2020 Oct 23 doi: 10.3389/fendo.2020.593931. PMID: 33193106Free PMC Article
Lamins and metabolism.
Charar C, Gruenbaum Y
Clin Sci (Lond) 2017 Jan 1;131(2):105-111. doi: 10.1042/CS20160488. PMID: 27974395

Diagnosis

Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D
Presse Med 2021 Nov;50(3):104071. Epub 2021 Oct 2 doi: 10.1016/j.lpm.2021.104071. PMID: 34610417
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D
Nucleus 2018 Jan 1;9(1):249-260. doi: 10.1080/19491034.2018.1454167. PMID: 29557732Free PMC Article
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960
Lipodystrophies.
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy.
Adiyaman SC, Altay C, Kamisli BY, Avci ER, Basara I, Simsir IY, Atik T, Secil M, Oral EA, Akinci B
J Clin Endocrinol Metab 2023 Jul 14;108(8):e512-e520. doi: 10.1210/clinem/dgad063. PMID: 36808247
Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D
Presse Med 2021 Nov;50(3):104071. Epub 2021 Oct 2 doi: 10.1016/j.lpm.2021.104071. PMID: 34610417
Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
Tchang BG, Shukla AP, Aronne LJ
Expert Opin Biol Ther 2015 Jul;15(7):1061-75. doi: 10.1517/14712598.2015.1052789. PMID: 26063386

Prognosis

Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Kountouri A, Korakas E, Maratou E, Ikonomidis I, Balampanis K, Liatis S, Tentolouris N, Toulas P, Kousathana F, Giatzakis C, Dimitriadis GD, Lambadiari V
Int J Mol Sci 2023 Jul 27;24(15) doi: 10.3390/ijms241512045. PMID: 37569420Free PMC Article
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN
J Clin Endocrinol Metab 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662. PMID: 30020498Free PMC Article
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.
Garg A
J Clin Endocrinol Metab 2011 Nov;96(11):3313-25. Epub 2011 Aug 24 doi: 10.1210/jc.2011-1159. PMID: 21865368Free PMC Article
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.
Vantyghem MC, Vincent-Desplanques D, Defrance-Faivre F, Capeau J, Fermon C, Valat AS, Lascols O, Hecart AC, Pigny P, Delemer B, Vigouroux C, Wemeau JL
J Clin Endocrinol Metab 2008 Jun;93(6):2223-9. Epub 2008 Mar 25 doi: 10.1210/jc.2007-2521. PMID: 18364375

Clinical prediction guides

Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Kountouri A, Korakas E, Maratou E, Ikonomidis I, Balampanis K, Liatis S, Tentolouris N, Toulas P, Kousathana F, Giatzakis C, Dimitriadis GD, Lambadiari V
Int J Mol Sci 2023 Jul 27;24(15) doi: 10.3390/ijms241512045. PMID: 37569420Free PMC Article
Advances in the care of lipodystrophies.
Shamsudeen I, Hegele RA
Curr Opin Endocrinol Diabetes Obes 2022 Apr 1;29(2):152-160. doi: 10.1097/MED.0000000000000695. PMID: 34839327
Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.
Simha V, Lanza IR, Dasari S, Klaus KA, Le Brasseur N, Vuckovic I, Laurenti MC, Cobelli C, Port JD, Nair KS
J Clin Endocrinol Metab 2022 Jan 18;107(2):346-362. doi: 10.1210/clinem/dgab725. PMID: 34614176Free PMC Article
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960

Recent systematic reviews

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Desgrouas C, Thalheim T, Cerino M, Badens C, Bonello-Palot N
Cardiovasc Res 2024 Mar 14;120(3):237-248. doi: 10.1093/cvr/cvae005. PMID: 38214891
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, Sanchez-Iglesias S, Cobelo-Gomez S, Prado-Moraña T, Araujo-Vilar D
Cells 2023 Feb 24;12(5) doi: 10.3390/cells12050725. PMID: 36899861Free PMC Article
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article

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      OMIM records containing genes associated with phenotypes registered in MedGen

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