FPLD6
MCID: LPD036
MIFTS: 40
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Lipodystrophy, Familial Partial, Type 6 (FPLD6)
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 6:
Characteristics:Inheritance:
Lipodystrophy, Familial Partial, Type 6:
Autosomal recessive 57
Lipe-Related Familial Partial Lipodystrophy:
Autosomal recessive 58
Prevelance:
Lipe-Related Familial Partial Lipodystrophy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Lipe-Related Familial Partial Lipodystrophy:
Adult 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
heterozygous carriers have an increased risk of metabolic dysfunction 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
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OMIM®: 57 Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017). (615980) (Updated 08-Dec-2022) MalaCards based summary: Lipodystrophy, Familial Partial, Type 6, also known as lipe-related familial partial lipodystrophy, is related to adiposis dolorosa and lipodystrophy, congenital generalized, type 2. An important gene associated with Lipodystrophy, Familial Partial, Type 6 is LIPE (Lipase E, Hormone Sensitive Type), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include skin, skeletal muscle and adipose-subcutaneous, and related phenotypes are lipodystrophy and loss of subcutaneous adipose tissue in limbs Orphanet: 58 A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. UniProtKB/Swiss-Prot: 73 A form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy. Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the LIPE gene on chromosome 19q13. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 6:58 30 (show all 37)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615980 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 6:45
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Organs/tissues related to Lipodystrophy, Familial Partial, Type 6:
MalaCards :
Skin,
Skeletal Muscle
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Articles related to Lipodystrophy, Familial Partial, Type 6:
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 6:5
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GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 6.
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Pathways related to Lipodystrophy, Familial Partial, Type 6 according to GeneCards Suite gene sharing:
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Cellular components related to Lipodystrophy, Familial Partial, Type 6 according to GeneCards Suite gene sharing:
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