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Acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome[1] and Lawrence–Seip syndrome, [1] is a rare skin condition that appears during childhood or adolescence, characterized by fat loss affecting large areas of the body, particularly the face, arms, and legs. [2]: 496 There are four types of lipodystrophy based on its ...
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy. [5] Homozygous or compound heterozygous mutations in four genes are associated with the four subtypes of CGL. [3] The condition appears in early childhood with ...
Endocrinology. Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. [1][2] The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy (from Greek lipo 'fat' and dystrophy ...
Metreleptin, sold under the brand name Myalept among others, is a synthetic analog of the hormone leptin used to treat various forms of dyslipidemia.It has been approved in Japan for metabolic disorders including lipodystrophy and in the United States as replacement therapy to treat the complications of leptin deficiency, in addition to diet, in patients with congenital generalized or acquired ...
Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal and/or cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). Most of these symptoms develop after birth, typically during childhood or adolescence.
Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). Alternatively, seipin can be referred to as Berardinelli–Seip congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding gene of the same name, i.e. BSCL2.
Barraquer–Simons syndrome. Barraquer–Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax. [2][3] It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician. [4][5][6] Some evidence links it to LMNB2. [7]
67512 Ensembl ENSG00000169692 ENSMUSG00000026922 UniProt O15120 Q8K3K7 RefSeq (mRNA) NM_006412 NM_001012727 NM_026212 RefSeq (protein) NP_001012745 NP_006403 NP_080488 Location (UCSC) Chr 9: 136.67 – 136.69 Mb Chr 2: 26.48 – 26.49 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse 1-acyl- sn -glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the ...