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FPLD1
MCID: LPD040
MIFTS: 32
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Lipodystrophy, Familial Partial, Type 1 (FPLD1)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin 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:58
familial partial lipodystrophy, kobberling type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in childhood only women have been reported inheritance may be x-linked dominant HPO:31
lipodystrophy, familial partial, type 1:
Inheritance autosomal dominant inheritance Onset and clinical course juvenile onset Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare skin diseases
Rare endocrine diseases |
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GARD :
20
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. 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) (Updated 05-Mar-2021) |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 1:58 31 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:608600 (Updated 05-Mar-2021) |
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Genetic tests related to Lipodystrophy, Familial Partial, Type 1:
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Articles related to Lipodystrophy, Familial Partial, Type 1:
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Genes related to Lipodystrophy, Familial Partial, Type 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 1.
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Cellular components related to Lipodystrophy, Familial Partial, Type 1 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Familial Partial, Type 1 according to GeneCards Suite gene sharing:
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