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FPLD4
MCID: LPD034
MIFTS: 44
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Lipodystrophy, Familial Partial, Type 4 (FPLD4)
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 4:
Characteristics:Inheritance:
Lipodystrophy, Familial Partial, Type 4:
Autosomal dominant 57
Plin1-Related Familial Partial Lipodystrophy:
Autosomal dominant 58
Prevelance:
Plin1-Related Familial Partial Lipodystrophy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Plin1-Related Familial Partial Lipodystrophy:
Childhood 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Liver diseases Neuronal diseases Cardiovascular diseases Muscle diseases
ICD10:
32
Orphanet: 58
Rare skin diseases
Rare endocrine diseases |
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OMIM®: 57 Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. (613877) (Updated 08-Dec-2022) MalaCards based summary: Lipodystrophy, Familial Partial, Type 4, also known as plin1-related familial partial lipodystrophy, is related to lipodystrophy, familial partial, type 6 and lipodystrophy, congenital generalized, type 4. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include ovary, skin and adipocyte, and related phenotypes are hypertension and lipoatrophy Orphanet: 58 A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has material basis in mutation in the PLIN1 gene on chromosome 15q26. UniProtKB/Swiss-Prot: 73 A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 4:58 30 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613877 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 4:45
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Organs/tissues related to Lipodystrophy, Familial Partial, Type 4:
MalaCards :
Ovary,
Skin,
Adipocyte,
Skeletal Muscle
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Articles related to Lipodystrophy, Familial Partial, Type 4:
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Genes related to Lipodystrophy, Familial Partial, Type 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 4:5 (show all 14)
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 4.
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Pathways related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:(show all 13)
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Cellular components related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:
Molecular functions related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:
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