PLIN1-related familial partial lipodystrophy(FPLD4)

MedGen UID:: 1675945
•Concept ID:: C5191005
•: Disease or Syndrome

Synonyms:	Familial partial lipodystrophy 4; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
SNOMED CT:	PLIN1-related familial partial lipodystrophy (783616005); FPLD4 - familial partial lipodystrophy type 4 (783616005); Perilipin 1 related familial partial lipodystrophy (783616005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PLIN1 (15q26.1)

Monarch Initiative:	MONDO:0013478
OMIM®:	613877
Orphanet:	ORPHA280356

Definition

Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. [from OMIM]

Clinical features

From HPO

Oligomenorrhea

MedGen UID:: 18159
•Concept ID:: C0028949
•: Pathologic Function

Infrequent menses (less than 6 per year or more than 35 days between cycles).

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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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Stroke disorder

MedGen UID:: 52522
•Concept ID:: C0038454
•: Disease or Syndrome

Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.

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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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Lipoatrophy

MedGen UID:: 488959
•Concept ID:: C1280433
•: Disease or Syndrome

Localized loss of fat tissue.

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Skeletal muscle hypertrophy

MedGen UID:: 853739
•Concept ID:: C2265792
•: Finding

Abnormal increase in muscle size and mass not due to training.

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Insulin resistance

MedGen UID:: 43904
•Concept ID:: C0021655
•: Pathologic Function

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.

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Hypertriglyceridemia

MedGen UID:: 167238
•Concept ID:: C0813230
•: Finding

An abnormal increase in the level of triglycerides in the blood.

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Insulin-resistant diabetes mellitus

MedGen UID:: 163439
•Concept ID:: C0854110
•: Disease or Syndrome

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.

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Acanthosis nigricans