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Generalized lipodystrophy

MedGen UID:
1369615
Concept ID:
C4317112
Disease or Syndrome
Synonym: Lipodystrophy, generalized
 
HPO: HP:0009064
Monarch Initiative: MONDO:0027766

Definition

Generalized degenerative changes of the fat tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized lipodystrophy

Conditions with this feature

Mandibuloacral dysplasia with type B lipodystrophy
MedGen UID:
332940
Concept ID:
C1837756
Disease or Syndrome
Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).
Lipodystrophy-intellectual disability-deafness syndrome
MedGen UID:
334166
Concept ID:
C1842465
Disease or Syndrome
Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Congenital generalized lipodystrophy type 3
MedGen UID:
436541
Concept ID:
C2675861
Disease or Syndrome
Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).
Keppen-Lubinsky syndrome
MedGen UID:
481430
Concept ID:
C3279800
Disease or Syndrome
Keppen-Lubinsky syndrome (KPLBS) is a rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).
Mandibuloacral dysplasia progeroid syndrome
MedGen UID:
1741713
Concept ID:
C5436867
Disease or Syndrome
Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).
Proteasome-associated autoinflammatory syndrome 4
MedGen UID:
1780127
Concept ID:
C5543053
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see 147795) inhibitor ruxolitinib may result in clinical improvement (summary by de Jesus et al., 2019). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).

Professional guidelines

PubMed

Mainieri F, Tagi VM, Chiarelli F
Front Endocrinol (Lausanne) 2022;13:879979. Epub 2022 May 4 doi: 10.3389/fendo.2022.879979. PMID: 35600578Free PMC Article
Araújo-Vilar D, Santini F
J Endocrinol Invest 2019 Jan;42(1):61-73. Epub 2018 Apr 27 doi: 10.1007/s40618-018-0887-z. PMID: 29704234Free PMC Article
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T
J Clin Endocrinol Metab 2016 Dec;101(12):4500-4511. Epub 2016 Oct 6 doi: 10.1210/jc.2016-2466. PMID: 27710244Free PMC Article

Recent clinical studies

Therapy

Altarejos JY, Pangilinan J, Podgrabinska S, Akinci B, Foss-Freitas M, Neidert AH, Ray Y, Zheng W, Kim S, Kamat V, Huang M, Min S, Mastaitis J, Dominguez-Gutierrez G, Kim JH, Stevis P, Huang T, Zambrowicz B, Olson WC, Godin S, Bradley E, Gewitz AD, Baker M, Hench R, Davenport MS, Chenevert TL, DiPaola F, Yancopoulos GD, Murphy AJ, Herman GA, Musser BJ, Dansky H, Harp J, Gromada J, Sleeman MW, Oral EA, Olenchock BA
Sci Transl Med 2023 Nov 22;15(723):eadd4897. doi: 10.1126/scitranslmed.add4897. PMID: 37992152
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Mainieri F, Tagi VM, Chiarelli F
Front Endocrinol (Lausanne) 2022;13:879979. Epub 2022 May 4 doi: 10.3389/fendo.2022.879979. PMID: 35600578Free PMC Article
Araújo-Vilar D, Santini F
J Endocrinol Invest 2019 Jan;42(1):61-73. Epub 2018 Apr 27 doi: 10.1007/s40618-018-0887-z. PMID: 29704234Free PMC Article
Akinci B, Meral R, Oral EA
Curr Diab Rep 2018 Oct 29;18(12):139. doi: 10.1007/s11892-018-1100-7. PMID: 30370487

Prognosis

Fernández-Pombo A, Sánchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-Gómez S, Prado-Moraña T, Díaz-López EJ, Casanueva FF, Loidi L, Araújo-Vilar D
Front Endocrinol (Lausanne) 2023;14:1250203. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1250203. PMID: 38034001Free PMC Article
Hsu RH, Lin WD, Chao MC, Hsiao HP, Wong SL, Chiu PC, Chu SY, Ke YY, Lau BH, Chien YH, Hwu WL, Tsai FJ, Wang CH, Lee NC
J Formos Med Assoc 2019 Jan;118(1 Pt 1):142-147. Epub 2018 Mar 1 doi: 10.1016/j.jfma.2018.02.003. PMID: 29478747
Huang L, Shi H, Zhou X
Endocr Pract 2017 Jul;23(7):857-862. Epub 2017 Apr 27 doi: 10.4158/EP161686.RA. PMID: 28448764
Diker-Cohen T, Cochran E, Gorden P, Brown RJ
J Clin Endocrinol Metab 2015 May;100(5):1802-10. Epub 2015 Mar 3 doi: 10.1210/jc.2014-4491. PMID: 25734254Free PMC Article
Seip M
Ergeb Inn Med Kinderheilkd 1971;31:59-95. doi: 10.1007/978-3-642-65213-4_2. PMID: 4933543

Clinical prediction guides

Fernández-Pombo A, Sánchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-Gómez S, Prado-Moraña T, Díaz-López EJ, Casanueva FF, Loidi L, Araújo-Vilar D
Front Endocrinol (Lausanne) 2023;14:1250203. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1250203. PMID: 38034001Free PMC Article
Zou W, Rohatgi N, Brestoff JR, Zhang Y, Scheller EL, Craft CS, Brodt MD, Migotsky N, Silva MJ, Harris CA, Teitelbaum SL
PLoS Genet 2019 Jun;15(6):e1008244. Epub 2019 Jun 24 doi: 10.1371/journal.pgen.1008244. PMID: 31233501Free PMC Article
Akinci B, Meral R, Oral EA
Curr Diab Rep 2018 Oct 29;18(12):139. doi: 10.1007/s11892-018-1100-7. PMID: 30370487
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Tsoukas MA, Farr OM, Mantzoros CS
Metabolism 2015 Jan;64(1):47-59. Epub 2014 Aug 12 doi: 10.1016/j.metabol.2014.07.017. PMID: 25267014

Recent systematic reviews

Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Sivakumar T, Mechanic O, Fehmie DA, Paul B
HIV Med 2011 Sep;12(8):453-62. Epub 2011 Jan 25 doi: 10.1111/j.1468-1293.2010.00906.x. PMID: 21265979

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