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Hereditary lipodystrophy

MedGen UID:
1383706
Concept ID:
C4511302
Disease or Syndrome
Synonym: Genetic lipodystrophy
SNOMED CT: Genetic lipodystrophy (724841000)
 
Monarch Initiative: MONDO:0020087
Orphanet: ORPHA98305

Definition

An instance of lipodystrophy that is caused by an inherited genomic modification in an individual. [from MONDO]

Professional guidelines

PubMed

Cetin Gedik K, Ortega-Villa AM, Materne G, Rastegar A, Montealegre Sanchez GA, Reinhardt A, Brogan PA, Berkun Y, Murias S, Robles M, Schalm S, de Jesus AA, Goldbach-Mansky R
Ann Rheum Dis 2024 Aug 27;83(9):1181-1188. doi: 10.1136/ard-2023-225463. PMID: 38653530Free PMC Article
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L
Int J Dermatol 2015 Feb;54(2):121-9. Epub 2014 Dec 18 doi: 10.1111/ijd.12695. PMID: 25521013

Recent clinical studies

Etiology

Angelidi AM, Filippaios A, Mantzoros CS
J Clin Invest 2021 Feb 15;131(4) doi: 10.1172/JCI142245. PMID: 33586681Free PMC Article
Koethe JR, Lagathu C, Lake JE, Domingo P, Calmy A, Falutz J, Brown TT, Capeau J
Nat Rev Dis Primers 2020 Jun 18;6(1):48. doi: 10.1038/s41572-020-0181-1. PMID: 32555389
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748Free PMC Article
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
Maidment SL, Ellis JA
Expert Rev Mol Med 2002 Jul 30;4(17):1-21. doi: 10.1017/S1462399402004842. PMID: 14585157

Diagnosis

Borges T, Silva S
Curr Rheumatol Rev 2024;20(4):350-360. doi: 10.2174/0115733971254702231020060633. PMID: 37921131
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748Free PMC Article
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275
Kieselova K, Santiago F, Guiote V, Amado C, Henrique M
Clin Exp Dermatol 2017 Dec;42(8):939-941. Epub 2017 Sep 20 doi: 10.1111/ced.13215. PMID: 28940565
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250

Therapy

Chan L, Yokota T
Methods Mol Biol 2020;2176:21-47. doi: 10.1007/978-1-0716-0771-8_2. PMID: 32865780
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275
Kieselova K, Santiago F, Guiote V, Amado C, Henrique M
Clin Exp Dermatol 2017 Dec;42(8):939-941. Epub 2017 Sep 20 doi: 10.1111/ced.13215. PMID: 28940565
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250

Prognosis

Kopp J, Koch LA, Lyubenova H, Küchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B
Hum Genet 2024 May;143(5):683-694. Epub 2024 Apr 9 doi: 10.1007/s00439-024-02669-y. PMID: 38592547Free PMC Article
Nwawka OK, Schneider R, Bansal M, Mintz DN, Lane J
Skeletal Radiol 2014 Oct;43(10):1449-55. Epub 2014 Apr 29 doi: 10.1007/s00256-014-1887-5. PMID: 24777445
Khalife WI, Mourtada MC, Khalil J
Tex Heart Inst J 2008;35(2):196-9. PMID: 18612489Free PMC Article
Cho HJ, Sung DH, Ki CS
Muscle Nerve 2007 Sep;36(3):384-6. doi: 10.1002/mus.20792. PMID: 17486577
Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D
Neuromuscul Disord 2003 Jan;13(1):60-7. doi: 10.1016/s0960-8966(02)00196-7. PMID: 12467734

Clinical prediction guides

Cetin Gedik K, Ortega-Villa AM, Materne G, Rastegar A, Montealegre Sanchez GA, Reinhardt A, Brogan PA, Berkun Y, Murias S, Robles M, Schalm S, de Jesus AA, Goldbach-Mansky R
Ann Rheum Dis 2024 Aug 27;83(9):1181-1188. doi: 10.1136/ard-2023-225463. PMID: 38653530Free PMC Article
Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP
Genes (Basel) 2024 Jan 29;15(2) doi: 10.3390/genes15020180. PMID: 38397171Free PMC Article
Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R
Pediatr Rheumatol Online J 2023 Apr 22;21(1):38. doi: 10.1186/s12969-023-00817-8. PMID: 37087470Free PMC Article
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748Free PMC Article
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article

Recent systematic reviews

Altom A, Khader SAE, Gad AG, Anadani R, Dang DP, Ansar F, Chaudhari J, Crespo-Quezada J, Huy NT
Am J Dermatopathol 2023 Jun 1;45(6):355-370. Epub 2023 Feb 17 doi: 10.1097/DAD.0000000000002345. PMID: 37191371

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