Lipodistrofia caracterizada pela associação de lipoatrofia, hipertrigliceridemia, hepatomegalia e características acromegaloides. A BSCL pertence ao grupo das síndromes de resistência extrema à insulina, que também inclui o leprechaunismo, a síndrome de Rabson-Mendenhall, a lipodistrofia generalizada adquirida e a resistência à insulina dos tipos A e B.
Introdução
O que você precisa saber de cara
Lipodistrofia caracterizada pela associação de lipoatrofia, hipertrigliceridemia, hepatomegalia e características acromegaloides. A BSCL pertence ao grupo das síndromes de resistência extrema à insulina, que também inclui o leprechaunismo, a síndrome de Rabson-Mendenhall, a lipodistrofia generalizada adquirida e a resistência à insulina dos tipos A e B.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 69 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its bind
Golgi apparatus membraneCell membraneMembrane, caveolaMembrane raftGolgi apparatus, trans-Golgi networkCytoplasm
Lipodystrophy, congenital generalized, 3
A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive.
Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:30293840, PubMed:31708432). In association with LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts
Endoplasmic reticulum membraneLipid droplet
Lipodystrophy, congenital generalized, 2
A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive.
Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone
Endoplasmic reticulum membrane
Lipodystrophy, congenital generalized, 1
A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive.
Variantes genéticas (ClinVar)
338 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 466 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
30 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Lipodistrofia generalizada congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Lipodistrofia generalizada congênita
Centros para Lipodistrofia generalizada congênita
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
26 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
Background Lipodystrophies are rare disorders characterized by loss of adipose tissue, leading to severe metabolic and multisystem complications. Data on real-world management remain limited, particularly in Portugal. Objectives The objective of this study is to describe the clinical, metabolic, genetic, and therapeutic characteristics of patients with confirmed or suspected lipodystrophy followed at a Portuguese Endocrinology Outpatient Clinic. Methods We conducted a retrospective observational study including 21 patients with clinical suspicion or diagnosis of lipodystrophy. Demographic, clinical, laboratory, imaging, and genetic data were collected. Results The cohort was predominantly female (90.5%) with a median age at diagnosis of 49 years. Sixteen patients (76.2%) had familial partial lipodystrophy (FPLD), two (9.5%) had congenital generalized lipodystrophy, two (9.5%) had acquired generalized lipodystrophy, and one presented a complex syndromic form. Diabetes mellitus was present in 71.4% of patients and hypertriglyceridemia in 52.4%. Metabolic liver disease occurred in both generalized and partial forms. Autoimmune disorders affected 31.6% of patients, and cardiac involvement was observed in 23.8%. Genetic testing identified pathogenic or likely pathogenic variants in BSCL2 and PPARG in three patients, while most FPLD cases remained genetically unexplained. Metreleptin therapy in three patients with generalized lipodystrophy improved glycemic control, triglycerides, liver enzymes, and proteinuria. Dual-energy X-ray absorptiometry imaging supported the phenotypic characterization of adipose tissue loss. Conclusions Detailed physical examination, genetic testing, imaging, and early therapeutic interventions are critical for management. These findings align with European registry data and highlight the need for increased awareness and systematic evaluation in real-world clinical practice.
Berardinelli-Seip syndrome.
Berardinelli-Seip syndrome, also known as congenital generalized lipodystrophy (CGL), is a rare genetic disorder characterized by lipoatrophy, acromegaloid features, hyperinsulinemia, hypertriglyceridemia, and hepatic steatosis. With estimated prevalence 1 in every 10,000,000 births, CGL challenges medical specialists to seek better ways for early diagnosis of the disease. Despite its rarity, the condition is associated with severe metabolic and cardiovascular complications, leading to significant morbidity and reduced life expectancy. Advances in molecular genetics have identified mutations in AGPAT2, BSCL2, CAV1, and PTRF, which provide important insights into adipose tissue biology and systemic metabolism. Early recognition and genetic confirmation are crucial to initiate timely interventions, including lifestyle modification, insulin sensitizers, and lipid-lowering therapies including metreleptin therapy in indicated cases. Two illustrative cases are presented, reflecting our experience with the clinical variability, genetic findings, and therapeutic strategies in CGL as well as highlighting the importance of comprehensive care and emerging therapies.
AGPAT2 acts at the crossroads of lipid biosynthesis and DRP1-mediated ER morphogenesis.
The morphology of the endoplasmic reticulum (ER), characterized by central sheets and peripheral tubules, is controlled by membrane-shaping proteins. However, the role of lipids in ER morphogenesis remains elusive, despite the ER being the major site for lipid synthesis. Here, by examining the role of eighteen phosphatidic acid (PA)-generating enzymes in ER morphology, we identify lysophosphatidic acid acyltransferase 2 (AGPAT2) as a critical factor in mouse and human cells. AGPAT2 produces PA in the glycerophospholipid/triacylglycerol biosynthesis pathway, and its mutations cause congenital generalized lipodystrophy. We find that AGPAT2-generated PA drives ER tubulation through gene knockout, 3D structural analysis by FIB-SEM, super-resolution microscopy, lipidomics, AlphaFold, and in vitro reconstitutions of ER tubulation and AGPAT2 activity. AGPAT2 interacts with and supplies PA to the PA-binding, dynamin-related GTPase, DRP1, which subsequently tubulates the ER in a manner independent of GTP hydrolysis and oligomerization, distinct from its function in mitochondrial division. Consistently, the reduction of PA levels by ectopic expression of a PA phosphatase, LIPIN1, transforms ER tubules into sheets. Our results reveal an unforeseen interplay between lipid biosynthesis and membrane organization in the ER.
The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
1-Acylglycerol-3-phosphate O-acyltransferase (1-AGPAT) is an enzyme family composed of 11 isoforms. Notably, 1-AGPAT 2, the most studied isoform since its discovery, is a critical enzyme in the triglyceride synthesis pathway, converting lysophosphatidic acid to phosphatidic acid. In addition, AGPAT2 gene expression is shown to be essential for adipocyte development and maturation. Defects in AGPAT2 are responsible for significant pathophysiological alterations related to adipose tissue (AT). Pathogenic variants in this gene are the molecular etiology of Congenital Generalized Lipodystrophy type 1 (CGL1), in which fatty tissue is absent from birth. Metabolically, these individuals have several metabolic complications, including hypoleptinemia, hypoadiponectinemia, hyperglycemia, and hypertriglyceridemia. Furthermore, numerous AGPAT2 pathogenic variants that enormously affect the amino acid sequence, the tertiary structure of 1-AGPAT 2, and their transmembrane and functional domains were found in CGL1 patients. However, studies investigating the genotype-phenotype relationship in this disease are scarce. Here, we used bioinformatics tools to verify the effect of the main pathogenic variants reported in the AGPAT2 gene: c.366-588del, c.589-2A>G, c.646A>T, c.570C>A, c.369-372delGCTC, c.202C>T, c.514G>A, and c.144C>A in the 1-AGPAT 2 membrane topology. We also correlated the phenotype of CGL1 subjects harboring these variants to understand the genotype-phenotype relationship. We provided an integrative view of clinical, genetic, and metabolic features from CGL1 individuals, helping to understand the role of 1-AGPAT 2 in the pathogenesis of this rare disease. Data reviewed here highlight the importance of new molecular studies to improve our knowledge concerning clinical and genetic heterogeneity in CGL1.
Muscle Rippling and Myoedema in CAVIN1-Related Congenital Generalized Lipodystrophy Type 4.
Publicações recentes
Gpat3 Knockout Attenuates Adipose Loss and Steatohepatitis in Agpat2-Deficient Mice.
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
Berardinelli-Seip syndrome.
AGPAT2 acts at the crossroads of lipid biosynthesis and DRP1-mediated ER morphogenesis.
Case Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy.
📚 EuropePMC196 artigos no totalmostrando 188
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
CureusBerardinelli-Seip syndrome.
Endokrynologia PolskaAGPAT2 acts at the crossroads of lipid biosynthesis and DRP1-mediated ER morphogenesis.
Nature communicationsCase Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy.
Frontiers in endocrinology"Seipin mediates Perilipin-1 recruitment to lipid droplets to preserve human adipocyte identity".
bioRxiv : the preprint server for biologyPathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.
Diabetology & metabolic syndromeClinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.
Molecular syndromologyEpidemiological and clinical data from the European Lipodystrophy Registry.
European journal of endocrinologyCalf skinfold measurements as a diagnostic tool for lipodystrophy syndromes: a cross-sectional study.
Diabetology & metabolic syndromeMuscle Rippling and Myoedema in CAVIN1-Related Congenital Generalized Lipodystrophy Type 4.
NeurologyLong-Term Clinical Experience With Metreleptin in a Brazilian Patient With Congenital Generalized Lipodystrophy Type 2.
JCEM case reportsThe clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.
Frontiers in endocrinologyInherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.
CureusPreliminary high-dose irradiation of the recipient and associated damage of bone marrow stromal compartment enables bone marrow stroma transplantation.
Scientific reportsThe Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
International journal of molecular sciencesThe blood transcriptome of the human congenital generalized lipodystrophy.
EndocrineDiagnosis and Management of Genetic Lipodystrophy Syndromes and its Implications for Atherosclerosis.
Current atherosclerosis reportsTirzepatide for Congenital Generalized Lipodystrophy.
The New England journal of medicineA very low carbohydrate diet improved metabolic profile in congenital generalized lipodystrophy type 4.
Endocrinology, diabetes & metabolism case reportsSiblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
CureusA series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.
Scientific reportsThe spectrum of rippling muscle disease.
Muscle & nerveAssessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.
Journal of endocrinological investigationA Rare Case of Congenital Generalized Lipodystrophy.
CureusDiagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.
Orphanet journal of rare diseasesIdentification of ibuprofen targeting CXCR family members to alleviate metabolic disturbance in lipodystrophy based on bioinformatics and in vivo experimental verification.
Frontiers in endocrinologyCongenital Generalized Lipodystrophy in a Division 1 Female Sprinter.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport MedicineDiagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.
Orphanet journal of rare diseasesHeterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.
Frontiers in endocrinologyRegulated regeneration of adipose tissue in lipodystrophic Agpat2-null mice partially ameliorates hepatic steatosis.
iScienceAnalysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.
Orphanet journal of rare diseasesIdentification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans.
Disease models & mechanismsAcquired generalized lipodystrophy in a juvenile dermatomyositis patient.
International journal of rheumatic diseasesAcross-species benefits of adrenalectomy on congenital generalized lipoatrophic diabetes: a review.
Frontiers in endocrinologyMetabolic and other morbid complications in congenital generalized lipodystrophy type 4.
American journal of medical genetics. Part APatients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.
European journal of endocrinologyLysophosphatidic acid triggers inflammation in the liver and white adipose tissue in rat models of 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 deficiency and overnutrition.
Proceedings of the National Academy of Sciences of the United States of AmericaIdentification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in C. elegans.
bioRxiv : the preprint server for biologyRegulated adipose tissue-specific expression of human AGPAT2 in lipodystrophic Agpat2-null mice results in regeneration of adipose tissue.
iScienceA murine model of BSCL2-associated Celia's encephalopathy.
Neurobiology of diseaseIsolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review.
Plastic and reconstructive surgery. Global openInsulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.
The Journal of clinical endocrinology and metabolismLipodystrophic gene Agpat2 deficiency aggravates hyperlipidemia and atherosclerosis in Ldlr-/- mice.
Biochimica et biophysica acta. Molecular basis of diseasePlasma signatures of Congenital Generalized Lipodystrophy patients identified by untargeted lipidomic profiling are not changed after a fat-containing breakfast meal.
Prostaglandins, leukotrienes, and essential fatty acidsA new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Frontiers in endocrinologyDelayed Presentation of Berardinelli-Siep Lipodystrophy in an Adolescent Female.
Journal of investigative medicine high impact case reportsCase report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant.
Frontiers in pediatricsClinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Diabetes, obesity & metabolismPerinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
European journal of endocrinologyIdentifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.
Scientific reportsPerilipin 1 Antibodies in Patients With Acquired Generalized Lipodystrophy.
DiabetesFeatures of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
Journal of pediatric endocrinology & metabolism : JPEMA study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.
Yi chuan = HereditasUnusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy.
Journal of postgraduate medicineGene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy.
Molecular therapy. Methods & clinical developmentReduced gut microbiota diversity in patients with congenital generalized lipodystrophy.
Diabetology & metabolic syndromeReduced phosphatidylcholine synthesis suppresses the embryonic lethality of seipin deficiency.
Life metabolismImpaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy.
BMC cardiovascular disordersChild With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges.
Journal of cardiothoracic and vascular anesthesiaFace-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
The Journal of clinical endocrinology and metabolismLipodystrophy for the Diabetologist-What to Look For.
Current diabetes reportsMetreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year.
Journal of clinical research in pediatric endocrinologyBerardinelli Seip Syndrome: A rare case report.
JPMA. The Journal of the Pakistan Medical AssociationCongenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.
Clinical case reportsCase Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
Frontiers in immunologySuccessful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4.
Journal of pediatric endocrinology & metabolism : JPEMCongenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
Journal of pediatric endocrinology & metabolism : JPEMThe neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report.
BMC endocrine disordersLooking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.
Acta diabetologicaType 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.
European journal of clinical nutritionLipid Metabolism in Cancer: The Role of Acylglycerolphosphate Acyltransferases (AGPATs).
CancersAGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
Nature communicationsRNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients.
Scientific dataBiallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
European journal of endocrinologyReduced Endothelial Leptin Signaling Increases Vascular Adrenergic Reactivity in a Mouse Model of Congenital Generalized Lipodystrophy.
International journal of molecular sciencesBone Mineral Density in Congenital Generalized Lipodystrophy: The Role of Bone Marrow Tissue, Adipokines, and Insulin Resistance.
International journal of environmental research and public healthGeneralized lipoatrophy syndromes.
Presse medicale (Paris, France : 1983)Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.
The Journal of clinical endocrinology and metabolismMisdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report.
Frontiers in endocrinologyMetreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy.
The National medical journal of IndiaCourse of lipaemia retinalis in acquired generalised lipodystrophy.
BMJ case reportsSARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy.
Diabetology & metabolic syndromeTargeted massively parallel sequencing for congenital generalized lipodystrophy.
Archives of endocrinology and metabolismCelia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Journal of clinical medicineBscl2 Deficiency Does Not Directly Impair the Innate Immune Response in a Murine Model of Generalized Lipodystrophy.
Journal of clinical medicineAltered acylated ghrelin response to food intake in congenital generalized lipodystrophy.
PloS oneA novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1.
Acta diabetologicaRare case of congenital generalized lipodystrophy type 1.
The Indian journal of medical researchMetreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Italian journal of pediatricsFocus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCavin1 Deficiency Causes Disorder of Hepatic Glycogen Metabolism and Neonatal Death by Impacting Fenestrations in Liver Sinusoidal Endothelial Cells.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy.
Obesity reviews : an official journal of the International Association for the Study of Obesity[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAbsence of AGPAT2 impairs brown adipogenesis, increases IFN stimulated gene expression and alters mitochondrial morphology.
Metabolism: clinical and experimental[Multiple subcutaneous nodules for 46 days in an infant aged 66 days].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsHomozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Clinical diabetes and endocrinologyBerardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association.
Oman medical journalUnusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.
Clinical diabetes and endocrinologyA rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
Clinical endocrinologyLeu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
Diabetology & metabolic syndromeNovel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
Molecular medicine reportsHigh prevalence of congenital generalized lipodystrophy in Piura, Peru.
Intractable & rare diseases researchRetinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).
Middle East African journal of ophthalmologyOligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
Scientific reportsAcromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report.
Journal of medical case reportsEarly Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy.
Diabetes, metabolic syndrome and obesity : targets and therapyMetabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy.
Journal of the Endocrine SocietyChanges in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2.
Biochimica et biophysica acta. Molecular and cell biology of lipidsGPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.
Human molecular geneticsSeipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.
Acta radiologica openRemember to assess the 'whole' patient: a further immune-related adverse event of programmed cell death 1 checkpoint inhibition.
The British journal of dermatologyNeonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.
European journal of pediatricsA New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.
Diabetes, metabolic syndrome and obesity : targets and therapyCongenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
European journal of medical geneticsMedical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
MedicineBerardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up.
Indian pediatricsInteraction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes.
Biochemical and biophysical research communicationsThe long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyLeptin Restores Endothelial Function via Endothelial PPARγ-Nox1-Mediated Mechanisms in a Mouse Model of Congenital Generalized Lipodystrophy.
Hypertension (Dallas, Tex. : 1979)Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy.
Diabetology & metabolic syndromeCongenital lipodystrophy induces severe osteosclerosis.
PLoS geneticsAcquired generalized lipodystrophy under immune checkpoint inhibition.
The British journal of dermatologySeipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARγ and insulin resistance.
Neurobiology of diseaseCelia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
NeurogeneticsAggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy.
Archives of endocrinology and metabolismBerardinelli-Seip syndrome and progressive myoclonus epilepsy.
Epileptic disorders : international epilepsy journal with videotapeMetreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyGene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.
Biochimica et biophysica acta. Molecular and cell biology of lipids[Mutations in the BSCL2 gene cause congenital generalized lipodystrophy complicated by severe acute pancreatitis: a case report].
Zhonghua nei ke za zhiType 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands.
The Journal of pediatrics[Unusual facies and recurrent high triglycerides for more than one year in a girl].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy.
Journal of clinical research in pediatric endocrinologyPostmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.
The Journal of clinical endocrinology and metabolismAdipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice.
American journal of physiology. Endocrinology and metabolism[A case report of congenital generalized lipodystrophy].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsMonogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Current medical research and opinionFurther delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
European journal of medical geneticsImpairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
Respiratory researchCharacteristic findings of skeletal muscle MRI in caveolinopathies.
Neuromuscular disorders : NMDExpression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.
Biochimica et biophysica acta. Molecular and cell biology of lipidsCauses of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.
PloS oneRenal injury in Seipin-deficient lipodystrophic mice and its reversal by adipose tissue transplantation or leptin administration alone: adipose tissue-kidney crosstalk.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologySeipin deficiency in mice causes loss of dopaminergic neurons via aggregation and phosphorylation of α-synuclein and neuroinflammation.
Cell death & diseaseCongenital generalized lipodystrophy in Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhiAnesthesia for patients with PTRF mutations: a case report.
JA clinical reportsEarly commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.
BMC cardiovascular disordersClinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.
Journal of pediatric endocrinology & metabolism : JPEMCongenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.
Journal of the Endocrine SocietyDetermining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
Diagnostic and interventional radiology (Ankara, Turkey)Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.
EndocrinologyClinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
GeneClinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Neuromuscular disorders : NMDMECHANISTIC INSIGHTS INTO OSTEOPOROSIS IN PATIENTS WITH LIPODYSTROPHY AND REVIEW OF THE LITERATURE.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsNormal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy.
BoneClinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
The Journal of clinical endocrinology and metabolismHigh incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
American journal of medical genetics. Part ACharacterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
Traffic (Copenhagen, Denmark)Cardiac Manifestations of Congenital Generalized Lipodystrophy.
Clinical diabetes : a publication of the American Diabetes AssociationProgressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
SeizureBone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
Skeletal radiologyPTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.
PloS oneClinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
Journal of clinical research in pediatric endocrinologyAssembly and Turnover of Caveolae: What Do We Really Know?
Frontiers in cell and developmental biologyNeuronal seipin knockout facilitates Aβ-induced neuroinflammation and neurotoxicity via reduction of PPARγ in hippocampus of mouse.
Journal of neuroinflammationRaptor/mTORC1 loss in adipocytes causes progressive lipodystrophy and fatty liver disease.
Molecular metabolismClinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
European journal of human genetics : EJHGSpectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
European journal of medical geneticsMaladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
The Journal of clinical endocrinology and metabolismNatural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
The Journal of clinical endocrinology and metabolismClinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.
Diabetology & metabolic syndromeImpaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.
Metabolism: clinical and experimentalSuccessful cardiac transplantation in a patient with congenital generalized lipodystrophy.
Pediatric transplantationActivation of PPARγ Ameliorates Spatial Cognitive Deficits through Restoring Expression of AMPA Receptors in Seipin Knock-Out Mice.
The Journal of neuroscience : the official journal of the Society for NeuroscienceDiet rich in Docosahexaenoic Acid/Eicosapentaenoic Acid robustly ameliorates hepatic steatosis and insulin resistance in seipin deficient lipodystrophy mice.
Nutrition & metabolismOne-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes.
Diabetes, obesity & metabolismCase report: Dental management of Berardinelli-Seip congenital lipodystrophy.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistrySeipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPARγ.
Disease models & mechanismsA Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma.
The Journal of clinical endocrinology and metabolismRegion-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues.
Nature communicationsCongenital generalized lipodystrophies--new insights into metabolic dysfunction.
Nature reviews. EndocrinologyAcquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities.
Metabolism: clinical and experimentalCongenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Clinical geneticsSeipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.
Human molecular geneticsDysfunction of lipid metabolism in lipodystrophic Seipin-deficient mice.
Biochemical and biophysical research communicationsLipodystrophies: adipose tissue disorders with severe metabolic implications.
Journal of physiology and biochemistryExpression of seipin in adipose tissue rescues lipodystrophy, hepatic steatosis and insulin resistance in seipin null mice.
Biochemical and biophysical research communicationsSeipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis.
Molecular metabolismNovel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
European journal of medical geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
- Berardinelli-Seip syndrome.
- AGPAT2 acts at the crossroads of lipid biosynthesis and DRP1-mediated ER morphogenesis.
- The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
- Muscle Rippling and Myoedema in CAVIN1-Related Congenital Generalized Lipodystrophy Type 4.
- Gpat3 Knockout Attenuates Adipose Loss and Steatohepatitis in Agpat2-Deficient Mice.
- Case Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:528(Orphanet)
- MONDO:0018883(MONDO)
- GARD:13388(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6556681(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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