... (also known as Berardinelli-Seip lipodystrophy) is an extremely rare autosomal recessive ... Congenital Generalized Lipodystrophy, also known as Berardinelli-Seip lipodystrophy was first described in 1954 by Berardinelli ... Lipodystrophy Familial partial lipodystrophy List of cutaneous conditions Skin lesion Seipin "Congenital Generalized ... "congenital generalized lipodystrophy". Genetics Home Reference. Retrieved 2017-05-01. Viégas, RF; Diniz, RV; Viégas, TM; Lira, ...

2004). "Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation ... It can be associated with Congenital generalized lipodystrophy type 2 . GRCh38: Ensembl release 89: ENSG00000168000 - Ensembl, ... "Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in ... "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)". GeneReviews/NCBI/NIH/UW entry on BSCL2-Related ...

Mutations in this gene have been associated with congenital generalized lipodystrophy, a disease characterized by a near ... "A gene for congenital generalized lipodystrophy maps to human chromosome 9q34". The Journal of Clinical Endocrinology and ... "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature Genetics. 31 (1): 21-3. doi: ... "Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in ...

... mutations have been associated with congenital generalized lipodystrophy (see below), and mutations in an N- ... Patni N, Garg A (September 2015). "Congenital generalized lipodystrophies--new insights into metabolic dysfunction". Nature ... congenital generalized lipodystrophy) is a heterogeneous genetic disorder characterized by almost complete loss of adipose ... Of the four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin ...

Familial partial lipodystrophy Congenital generalized lipodystrophy Iglesias P, Alvarez Fidalgo P, Codoceo R, Díez J (2004). " ... Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs ...

... was approved in the United States in 2014 for use in congenital leptin deficiency and generalized lipodystrophy. An ... and for the diabetes and hypertriglyceridemia associated with congenital or acquired generalized lipodystrophy. In Europe based ... The medicine is used in adults and children above the age of 2 years with generalised lipodystrophy (Berardinelli-Seip syndrome ... June 1997). "Congenital leptin deficiency is associated with severe early-onset obesity in humans". Nature. 387 (6636): 903-908 ...

... congenital or familial), and generalized or partial. Both acquired or inherited lipodystrophy present as loss of adipose ... see HIV-Associated Lipodystrophy). The clinical presentation is similar to people with congenital lipodystrophy: the only ... Acquired generalized lipodystrophy (also known as "Lawrence syndrome," and "Lawrence-Seip syndrome", abbreviation: AGL) is a ... It is the only drug option approved for generalized lipodystrophy-related symptoms and is not intended to use for patients with ...

... in patients with congenital generalized or acquired generalized lipodystrophy. The most common side effects include ... It is used in adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip syndrome and ... therapy to treat the complications of leptin deficiency in people with congenital or acquired generalized lipodystrophy. ... Metreleptin is effective in most patients with generalized lipodystrophy where circulating leptin levels are extremely low. ...

... can be divided into the following types:: 495-7 Congenital lipodystrophy syndromes Congenital generalized ... Localized lipodystrophy HIV-associated lipodystrophy Congenital lipodystrophy (due to inherited genetic defect) is estimated to ... Acquired generalized lipodystrophy Centrifugal abdominal lipodystrophy (Lipodystrophia centrifugalis abdominalis infantilis) ... The medicine is used in: adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip ...

Chromosome Xq26.3 duplication syndrome Congenital generalized lipodystrophy type 1 Congenital generalized lipodystrophy type 2 ...

De Brasi, D; Brunetti-Pierri, N; Di Micco, P; Andria, G; Sebastio, G (2003). "New syndrome with generalized lipodystrophy and a ... Keppen-Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the Keppen-Lubinsky ... generalized lipodystrophy, microcephaly, and development delay. Keppen-Lubinsky syndrome is caused by mutation in the inwardly ...

Congenital bilateral perisylvian syndrome Congenital generalized lipodystrophy Congenital insensitivity to pain Congenital ... myasthenic syndrome Congenital nephrotic syndrome Congenital rubella syndrome Conn's syndrome Conorenal syndrome Conradi- ... Lenz microphthalmia syndrome Lenz-Majewski syndrome Leriche's syndrome Leschke syndrome Lesch-Nyhan syndrome Lethal congenital ... disease Marden-Walker syndrome Mare reproductive loss syndrome Marfan syndrome Marfanoid-progeroid-lipodystrophy syndrome Marie ...

... in patients with congenital generalized or acquired generalized lipodystrophy. Metraleptin was originally developed at Amylin ... Lipodystrophy Orphan Drug Program. Amylin Pharmaceuticals. U.S. Food and Drug Administration (25 February 2014). "FDA approves ...

... and severe generalized lipodystrophy (failure to generate adipose tissue). KCNJ6 is in the Down syndrome critical region such ... 2015). "De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, ... Several channelopathies result in morphological abnormalities or congenital birth defects in addition to symptoms that affect ... "Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the ...

BSCL2 Lipodystrophy, congenital generalized, type 3; 612526; CAV1 Lipodystrophy, congenital generalized, type 4; 613327; PTRF ... LMF1 Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; ... GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; ... LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; ...

Based on visual inspection, it was originally thought that the lipodystrophy associated with MPL was generalized. However, it ... "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene ... Marfanoid-progeroid-lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid ... In 2016, it was discovered that the partial lipodystrophy associated with MPL is caused by loss of the C-terminal domain ...

Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) Cytophagic histiocytic panniculitis Drug-induced ... congenital hemangiopericytoma) Infantile myofibromatosis (congenital generalized fibromatosis, congenital multicentric ... Congenital erosive and vesicular dermatosis Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit ( ... congenital constriction bands, pseudoainhum) Aplasia cutis congenita (cutis aplasia, congenital absence of skin, congenital ...

... and generalized lipodystrophy to infant-lethal restrictive dermopathy.[citation needed] In the case of autosomal dominant ... "A new autosomal recessive lethal chondrodystrophy with congenital hydrops". American Journal of Medical Genetics. 29 (3): 623- ... In 2006, lamin B2 missense mutations were identified in patients with acquired partial lipodystrophy. The most common mutation ... lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). Most of these ...

618823 - CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS; CMYP9B". omim.org. Retrieved 2023-07-03. Tajsharghi, Homa; ... In some forms of lipodystrophy, an abnormal deficit of subcutaneous fat accentuates the appearance of the muscles, though the ... generalized muscle hypertrophy, calf muscle hypertrophy, thigh hypertrophy The Human Phenotype Ontology (HPO) project - ... "CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYP7A". www.omim.org. Retrieved 2023-09-23. "#255800 - SCHWARTZ- ...

Erich Benjamin Berardinelli-Seip congenital lipodystrophy - Waldemar Berardinelli, Martin Seip Berdon syndrome - Walter Berdon ... generalized pustular psoriasis) - (a.k.a. Zumbusch psoriasis) Leo Ritter von Zumbusch Von Zumbusch syndrome (a.k.a. Csillag ... generalized pustular psoriasis) - Leo Ritter von Zumbusch Zumbusch syndrome (a.k.a. Csillag disease, Hallopeau disease, von ...