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LIPE-related familial partial lipodystrophy(FPLD6)

MedGen UID:: 863306
•Concept ID:: C4014869
•: Disease or Syndrome

Synonyms:	Familial partial lipodystrophy 6; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS
SNOMED CT:	FPLD6 - familial partial lipodystrophy type 6 (1197751007); LIPE-related familial partial lipodystrophy (1197751007); Lipase E, hormone sensitive type-related familial partial lipodystrophy (1197751007)
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.	LIPE (19q13.2)

Monarch Initiative:	MONDO:0014431
OMIM®:	615980
Orphanet:	ORPHA435660

Definition

Familial partial lipodystrophy type 6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. [from OMIM]

Clinical features

From HPO

Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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Lower limb muscle weakness

MedGen UID:: 324478
•Concept ID:: C1836296
•: Finding

Weakness of the muscles of the legs.

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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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Abdominal obesity

MedGen UID:: 90229
•Concept ID:: C0311277
•: Finding

Excessive fat around the stomach and abdomen.

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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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Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

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Muscular dystrophy

MedGen UID:: 44527
•Concept ID:: C0026850
•: Disease or Syndrome

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

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Muscle weakness

MedGen UID:: 57735
•Concept ID:: C0151786
•: Finding

Reduced strength of muscles.

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Proximal muscle weakness

MedGen UID:: 113169
•Concept ID:: C0221629
•: Finding

A lack of strength of the proximal muscles.

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Difficulty climbing stairs

MedGen UID:: 68676
•Concept ID:: C0239067
•: Finding

Reduced ability to climb stairs.

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Muscular atrophy

MedGen UID:: 892680
•Concept ID:: C0541794
•: Pathologic Function

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

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Lumbar hyperlordosis

MedGen UID:: 263149
•Concept ID:: C1184923
•: Finding

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

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Diabetes mellitus

MedGen UID:: 8350
•Concept ID:: C0011849
•: Disease or Syndrome

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

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Hyperlipidemia

MedGen UID:: 5692
•Concept ID:: C0020473
•: Disease or Syndrome

An elevated lipid concentration in the blood.

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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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Elevated circulating creatine kinase concentration

MedGen UID:: 69128
•Concept ID:: C0241005
•: Finding

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

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Abnormal circulating lipid concentration