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FPLD1
MCID: LPD040
MIFTS: 39
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Lipodystrophy, Familial Partial, Type 1 (FPLD1)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver 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:Inheritance:
Lipodystrophy, Familial Partial, Type 1:
Autosomal dominant 57
Familial Partial Lipodystrophy, Kobberling Type:
Autosomal dominant 58
Prevelance:
Familial Partial Lipodystrophy, Kobberling Type:
<1/1000000 (Worldwide) 58
Age Of Onset:
Familial Partial Lipodystrophy, Kobberling Type:
Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood only women have been reported inheritance may be x-linked dominant Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Fetal diseases Anatomical: Skin diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Muscle diseases Liver diseases
ICD10:
32
Orphanet: 58
Rare skin diseases
Rare endocrine diseases |
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GARD: 19 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. 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 Overlap between signal transduction pathways contributing to LMNA laminopathies and Adipogenesis. Affiliated tissues include skin and bone, and related phenotypes are diabetes mellitus and hypertension Orphanet: 58 Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. 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 08-Dec-2022) Disease Ontology: 11 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. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 1:58 30 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:608600 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 1:45
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Genetic tests related to Lipodystrophy, Familial Partial, Type 1:
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Organs/tissues related to Lipodystrophy, Familial Partial, Type 1:
MalaCards :
Skin,
Bone
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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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Pathways related to Lipodystrophy, Familial Partial, Type 1 according to GeneCards Suite gene sharing:
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Biological processes related to Lipodystrophy, Familial Partial, Type 1 according to GeneCards Suite gene sharing:
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