Lipodystrophy, Familial Partial, 2 malady
Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases
Aliases & Descriptions for Lipodystrophy, Familial Partial, 2:
Orphanet epidemiological data:53
familial partial lipodystrophy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly
lipodystrophy, familial partial, 2:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Skin diseases, Endocrine diseases, Cardiovascular diseases
OMIM:51 Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue... (151660) more...
MalaCards based summary: Lipodystrophy, Familial Partial, 2, also known as familial partial lipodystrophy type 2, is related to aredyld and familial partial lipodystrophy, and has symptoms including round face, diabetes mellitus and insulin resistance. An important gene associated with Lipodystrophy, Familial Partial, 2 is LMNA (Lamin A/C), and among its related pathways are Signaling events mediated by PTP1B and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include liver, skin and skeletal muscle, and related mouse phenotypes are adipose tissue and vision/eye.
Disease Ontology:11 A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.
NIH Rare Diseases:47 Familial partial lipodystrophy type 2 is a rare genetic condition that affects the amount and distribution of fat in the body. It is characterized by a loss of fatty tissue from the torso, buttocks, and limbs and a buildup of fat in the face, neck, shoulders and abdomen. Symptoms typically develop around puberty. This condition can be associated with a number of metabolic complications, including insulin resistance, high blood cholesterol levels (dyslipidemia), diabetes, and liver steatosis. These metabolic complications lead to an increased risk for cardiovascular disease. Familial partial lipodystrophy type 2 is caused by mutations in the LMNA gene. It is inherited in an autosomal dominant manner. Treatment includes correction of metabolic abnormalities and management of complications through diet, exercise, and medications. Last updated: 7/3/2016
UniProtKB/Swiss-Prot:69 Lipodystrophy, familial partial, 2: 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.
Wikipedia:70 Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin... more...
Human phenotypes related to Lipodystrophy, Familial Partial, 2:63 53 (show all 55)
UMLS symptoms related to Lipodystrophy, Familial Partial, 2:hepatomegaly, myalgia
Drugs for Lipodystrophy, Familial Partial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Lipodystrophy, Familial Partial, 2
MalaCards organs/tissues related to Lipodystrophy, Familial Partial, 2:35
Liver, Skin, Skeletal muscle, Ovary, Heart
UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, 2:69 (show all 16)
Clinvar genetic disease variations for Lipodystrophy, Familial Partial, 2:5 (show all 13)
Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, 2.
Pathways related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet