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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).
 
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.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Lipodystrophy
MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
Degenerative changes of the fat tissue.
Diabetic ketoacidosis
MedGen UID:
8351
Concept ID:
C0011880
Disease or Syndrome
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.
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.
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.
Decreased serum leptin
MedGen UID:
373413
Concept ID:
C1837802
Finding
A decreased concentration of leptin in the blood.
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.

Professional guidelines

PubMed

Aslesh T, Yokota T
Methods Mol Biol 2020;2176:69-85. doi: 10.1007/978-1-0716-0771-8_5. PMID: 32865783
Esan O, Wierzbicki AS
Drug Des Devel Ther 2020;14:2623-2636. Epub 2020 Jul 6 doi: 10.2147/DDDT.S224771. PMID: 32753844Free PMC Article
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

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
Shamsudeen I, Hegele RA
Curr Opin Endocrinol Diabetes Obes 2022 Apr 1;29(2):152-160. doi: 10.1097/MED.0000000000000695. PMID: 34839327
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
Goldberg RB, Chait A
Front Endocrinol (Lausanne) 2020;11:593931. Epub 2020 Oct 23 doi: 10.3389/fendo.2020.593931. PMID: 33193106Free PMC Article
Charar C, Gruenbaum Y
Clin Sci (Lond) 2017 Jan 1;131(2):105-111. doi: 10.1042/CS20160488. PMID: 27974395

Diagnosis

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
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
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
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
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

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
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
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
Paik J, Duggan S
Drugs 2019 Aug;79(12):1349-1354. doi: 10.1007/s40265-019-01168-z. PMID: 31301033
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

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
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
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D
Endocrine 2016 Nov;54(2):411-421. Epub 2016 Jul 30 doi: 10.1007/s12020-016-1002-x. PMID: 27473102
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
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

Clinical prediction guides

Shamsudeen I, Hegele RA
Curr Opin Endocrinol Diabetes Obes 2022 Apr 1;29(2):152-160. doi: 10.1097/MED.0000000000000695. PMID: 34839327
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
Broekema MF, Savage DB, Monajemi H, Kalkhoven E
Biochim Biophys Acta Mol Cell Biol Lipids 2019 May;1864(5):715-732. Epub 2019 Feb 8 doi: 10.1016/j.bbalip.2019.02.002. PMID: 30742913
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
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

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
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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