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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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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

Show all Hide all

Abnormality of metabolism/homeostasis
Abnormality of the cardiovascular system
- Hypertensive disorder
Abnormality of the digestive system
- Hepatic steatosis
- Hepatomegaly
Abnormality of the endocrine system
- Decreased adiponectin level
- Decreased serum leptin
Abnormality of the genitourinary system
- Irregular menstruation
Abnormality of the integument
- Acanthosis nigricans
Abnormality of the musculoskeletal system
- Lipodystrophy

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Laminopathy
    - Familial partial lipodystrophy
      - CIDEC-related familial partial lipodystrophy

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

Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.

Esan O, Wierzbicki AS
Drug Des Devel Ther 2020;14:2623-2636. Epub 2020 Jul 6 doi: 10.2147/DDDT.S224771. PMID: 32753844 Free 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: 27967300 Free PMC Article

See all (18)

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

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: 35821558 Free 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

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: 33193106 Free PMC Article

See all (116)

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: 35821558 Free 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: 29557732 Free 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

See all (111)

Therapy

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: 35821558 Free 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

Volanesorsen: First Global Approval.

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

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

See all (52)

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: 37569420 Free 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: 30020498 Free PMC Article

Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.

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

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: 21865368 Free 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

See all (40)

Clinical prediction guides

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: 34614176 Free PMC Article

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.

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

Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.

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

See all (92)

Recent systematic reviews

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: 36899861 Free PMC Article

Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.

See all (2)

MedGen

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CIDEC-related familial partial lipodystrophy(FPLD5)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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