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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.

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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.

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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.

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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.

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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

Partial lipodystrophy: Clinical presentation and treatment.

Mosbah H, Vatier C, Vigouroux C
Ann Endocrinol (Paris) 2024 Jun;85(3):197-200. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.015. PMID: 38871513

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

Genetic basis of lipodystrophies and management of metabolic complications.

Agarwal AK, Garg A
Annu Rev Med 2006;57:297-311. doi: 10.1146/annurev.med.57.022605.114424. PMID: 16409151

See all (20)

Recent clinical studies

Etiology

Navigating Lipodystrophy: Insights from Laminopathies and Beyond.

Krüger P, Hartinger R, Djabali K
Int J Mol Sci 2024 Jul 23;25(15) doi: 10.3390/ijms25158020. PMID: 39125589 Free PMC Article

Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.

Valerio CM, Muniz RBG, Viola LF, Bartzen Pereira G, Moreira RO, de Sousa Berriel MR, Montenegro Júnior RM, Godoy-Matos AF, Zajdenverg L
Front Endocrinol (Lausanne) 2024;15:1359025. Epub 2024 Apr 3 doi: 10.3389/fendo.2024.1359025. PMID: 38633761 Free PMC Article

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

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

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 (124)

Diagnosis

Lipomatoses.

Dupuis H, Lemaitre M, Jannin A, Douillard C, Espiard S, Vantyghem MC
Ann Endocrinol (Paris) 2024 Jun;85(3):231-247. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.003. PMID: 38871514

Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.

Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.

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

Irisin levels in LMNA-associated partial lipodystrophies.

Bensmaïne F, Benomar K, Espiard S, Vahe C, Le Mapihan K, Lion G, Lemdani M, Chazard E, Ernst O, Vigouroux C, Pigny P, Vantyghem MC
Diabetes Metab 2019 Jan;45(1):67-75. Epub 2018 Aug 27 doi: 10.1016/j.diabet.2018.08.003. PMID: 30165155

See all (127)

Therapy

Partial lipodystrophy: Clinical presentation and treatment.

Mosbah H, Vatier C, Vigouroux C
Ann Endocrinol (Paris) 2024 Jun;85(3):197-200. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.015. PMID: 38871513

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

Thiazolidinedione response in familial lipodystrophy patients with LMNA mutations: a case series.

Luedtke A, Boschmann M, Colpe C, Engeli S, Adams F, Birkenfeld AL, Haufe S, Rahn G, Luft FC, Schmidt HH, Jordan J
Horm Metab Res 2012 Apr;44(4):306-11. Epub 2012 Jan 24 doi: 10.1055/s-0031-1301284. PMID: 22274718

See all (55)

Prognosis

Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits.

Agrawal S, Luan J, Cummings BB, Weiss EJ, Wareham NJ, Khera AV
Diabetes 2024 Jul 1;73(7):1099-1111. doi: 10.2337/db23-0575. PMID: 38345889 Free PMC Article

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

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

Predicting abdominal adipose tissue among women with familial partial lipodystrophy.

Joy T, Kennedy BA, Al-Attar S, Rutt BK, Hegele RA
Metabolism 2009 Jun;58(6):828-34. doi: 10.1016/j.metabol.2009.03.001. PMID: 19375764

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

See all (41)

Clinical prediction guides

Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.

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.

Relapsing and Progressive Complications of Severe Hypertriglyceridemia: Effective Long-Term Treatment with Double Filtration Plasmapheresis.

Grupp C, Beckermann J, Köster E, Zewinger S, Knittel M, Walek T, Hohenstein B, Jaeger B, Spitthöver R, Klingel R, Fassbender CM, Tyczynski B
Blood Purif 2020;49(4):457-467. Epub 2020 Mar 19 doi: 10.1159/000506506. PMID: 32191938

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 (101)

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: 36899861 Free PMC Article

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

See all (3)

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

Recent activity