Lipodystrophy, Familial Partial, Type 1 (FPLD1)

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OMIM 57 608600 Disease Ontology 12 DOID:0070207 Orphanet 59 ORPHA79084 UMLS via Orphanet 74 C1720859

ICD10 via Orphanet 34 E88.1 MedGen 42 C1720859 SNOMED-CT via HPO 69 263681008 69878008 73211009 24184005 38341003 83469008 48606007 402599005 72129000 63103006 197321007 442191002 414024009 53741008 75694006 197456007 80515008 237598005 80394007 71325002 248315005 more UMLS 73 C1720859

NIH Rare Diseases : ⁵³ Familial partial lipodystrophy type Köbberling is a rare subtype of early-onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of FPL).  However, only arms and legs have fat loss, and there is a normal or slightly increased fat distribution on the face, neck, and trunk, with excess of belly fat (central obesity). Metabolic abnormalities including insulin resistance, high blood pressure (hypertension), and high levels of fat in the blood (hypertriglyceridemia) have also been reported. This form of FPL has only been reported in women. Inheritance seems to be autosomal dominant, but the exact cause is not known. Treatment includes medication for the metabolic problems, diet and exercises, and in some cases, surgical procedures.

MalaCards based summary : Lipodystrophy, Familial Partial, Type 1, also known as familial partial lipodystrophy type 1, is related to familial partial lipodystrophy and lipodystrophy, partial, acquired. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Affiliated tissues include skin, ovary and liver, and related phenotypes are diabetes mellitus and hypertension

Disease Ontology : ¹² A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.

OMIM : ⁵⁷ Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. (608600)

Clinical features from OMIM:

608600

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