Lipodystrophy, Familial Partial, Type 1 (FPLD1)

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Disease Ontology 12 DOID:0070207 OMIM 56 608600 MeSH 43 D052496 SNOMED-CT 67 725035001 ICD10 via Orphanet 33 E88.1

UMLS via Orphanet 72 C1720859 Orphanet 58 ORPHA79084 MedGen 41 C1720859 SNOMED-CT via HPO 68 197321007 197456007 237598005 24184005 248315005 263681008 38341003 402599005 414024009 442191002 48606007 53741008 63103006 69878008 71325002 72129000 73211009 75694006 80394007 80515008 83469008 more UMLS 71 C1720859

NIH Rare Diseases : ⁵² Familial partial lipodystrophy type Kobberling 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 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and familial partial lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include skin, ovary and bone, and related phenotypes are lipoatrophy 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 : ⁵⁶ 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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