FPLD2
MCID: LPD015
MIFTS: 63
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Lipodystrophy, Familial Partial, Type 2 (FPLD2)
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 2:
Characteristics:Inheritance:
Lipodystrophy, Familial Partial, Type 2:
Autosomal dominant 57
Familial Partial Lipodystrophy, Dunnigan Type:
Autosomal dominant 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases Muscle diseases Liver diseases Neuronal diseases
ICD10:
32
Orphanet: 58
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GARD: 19 Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities. Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease. FPLD2 is caused by genetic changes in the LMNA gene and inheritance is autosomal dominant. MalaCards based summary: Lipodystrophy, Familial Partial, Type 2, also known as lipoatrophic diabetes, is related to lipodystrophy, congenital generalized, type 1 and lipodystrophy, familial partial, type 1, and has symptoms including myalgia An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (Lamin A/C), and among its related pathways/superpathways are Metabolism and Signal Transduction. The drugs Empagliflozin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related phenotypes are diabetes mellitus and hepatomegaly OMIM®: 57 Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). (151660) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. Orphanet: 58 A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Disease Ontology 11 Familial partial lipodystrophy type 2: A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has material basis in mutation in the LMNA gene on chromosome 1q21. Lipoatrophic diabetes mellitus: A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. Wikipedia: 75 Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is... more... |
Human phenotypes related to Lipodystrophy, Familial Partial, Type 2:58 30 (show top 50) (show all 53)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:151660 (Updated 08-Dec-2022)UMLS symptoms related to Lipodystrophy, Familial Partial, Type 2:myalgia GenomeRNAi Phenotypes related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 2:45 (show all 17)
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Drugs for Lipodystrophy, Familial Partial, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
Cochrane evidence based reviews: diabetes mellitus, lipoatrophic |
Organs/tissues related to Lipodystrophy, Familial Partial, Type 2:
MalaCards :
Skin,
Liver,
Heart,
Skeletal Muscle,
Ovary,
Adipocyte,
Bone
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Articles related to Lipodystrophy, Familial Partial, Type 2:(show top 50) (show all 302)
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ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 2:5 (show top 50) (show all 72)
UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, Type 2:73 (show all 16)
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GEO
for disease gene expression data for Lipodystrophy, Familial Partial, Type 2.
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Pathways related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:(show all 31)
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Cellular components related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:(show all 22)
Molecular functions related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:
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