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MCID: LPD040
MIFTS: 27
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Lipodystrophy, Familial Partial, Type 1
Categories:
Rare diseases, Skin diseases, Endocrine diseases, Genetic diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases
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MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 1:
Name: Lipodystrophy, Familial Partial, Type 1
57
Characteristics:Orphanet epidemiological data:59
familial partial lipodystrophy, köbberling type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in childhood only women have been reported inheritance may be x-linked dominant HPO:32
lipodystrophy, familial partial, type 1:
Onset and clinical course juvenile onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases
ICD10:
34
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NIH Rare Diseases
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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 fpld1, is related to lipodystrophy, partial, acquired and partial lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 1 is LMNA (Lamin A/C). Affiliated tissues include ovary and skin, and related phenotypes are polycystic ovaries and diabetes mellitus 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) |
Diseases in the Partial Lipodystrophy family:Diseases related to Lipodystrophy, Familial Partial, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:608600Human phenotypes related to Lipodystrophy, Familial Partial, Type 1:59 32 (show all 25)
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Genetic tests related to Lipodystrophy, Familial Partial, Type 1:
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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 1:41
Ovary,
Skin
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Articles related to Lipodystrophy, Familial Partial, Type 1:
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 1.
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