FPLD3
MCID: LPD021
MIFTS: 52
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Lipodystrophy, Familial Partial, Type 3 (FPLD3)
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 3:
Characteristics:Inheritance:
Lipodystrophy, Familial Partial, Type 3:
Autosomal dominant 57
Pparg-Related Familial Partial Lipodystrophy:
Autosomal dominant 58
Prevelance:
Pparg-Related Familial Partial Lipodystrophy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Pparg-Related Familial Partial Lipodystrophy:
Adult 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset of major clinical features in young adulthood onset of insulin resistance may occur in childhood Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Muscle diseases Liver diseases
ICD10:
32
Orphanet: 58
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GARD: 19 A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. MalaCards based summary: Lipodystrophy, Familial Partial, Type 3, also known as pparg-related familial partial lipodystrophy, is related to type 2 diabetes mellitus and lipodystrophy, congenital generalized, type 1. An important gene associated with Lipodystrophy, Familial Partial, Type 3 is PPARG (Peroxisome Proliferator Activated Receptor Gamma), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include skin, skeletal muscle and ovary, and related phenotypes are hypertension and lipoatrophy Orphanet: 58 A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. UniProtKB/Swiss-Prot: 73 A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the PPARG gene on chromosome 3p25. |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 3:58 30 (show all 47)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:604367 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 3:45 (show all 11)
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Organs/tissues related to Lipodystrophy, Familial Partial, Type 3:
MalaCards :
Skin,
Skeletal Muscle,
Ovary,
Heart,
Adipocyte
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Articles related to Lipodystrophy, Familial Partial, Type 3:(show all 40)
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 3:5 (show all 40)
UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, Type 3:73
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Search
GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 3.
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Pathways related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:(show all 15)
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Cellular components related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:
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