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Inherited obesity

MedGen UID:
885912
Concept ID:
C4054476
Sign or Symptom
Synonym: Monogenic Obesity
 
Genes (locations): ADRB3 (8p11.23); AGRP (16q22.1); CARTPT (5q13.2); ENPP1 (6q23.2); GHRL (3p25.3); NR0B2 (1p36.11); POMC (2p23.3); PPARG (3p25.2); SDC3 (1p35.2); UCP3 (11q13.4)
 
Monarch Initiative: MONDO:0019182
OMIM®: 601665
Orphanet: ORPHA77828

Definition

Obesity associated with an identifiable mutation in a single gene. [from NCI]

Clinical features

From HPO
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Increased waist to hip ratio
MedGen UID:
1636491
Concept ID:
C4703554
Finding
Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
Decreased resting energy expenditure
MedGen UID:
868548
Concept ID:
C4022947
Finding
A reduction in the number of calories used per unit time.

Professional guidelines

PubMed

Lambert SA, Abraham G, Inouye M
Hum Mol Genet 2019 Nov 21;28(R2):R133-R142. doi: 10.1093/hmg/ddz187. PMID: 31363735
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
Wu Y, Ding Y, Tanaka Y, Zhang W
Int J Med Sci 2014;11(11):1185-200. Epub 2014 Sep 6 doi: 10.7150/ijms.10001. PMID: 25249787Free PMC Article

Recent clinical studies

Etiology

Wang J, Zhao N, Mao X, Meng F, Huang K, Dong G, Ji Y, Fu J
Biosci Rep 2020 Jan 31;40(1) doi: 10.1042/BSR20192153. PMID: 31868206Free PMC Article
Deshpande SS, Nemani H, Pothani S, Khambata K, Kumar A, Kallamadi PR, Balasinor NH
Endocrinology 2019 Jan 1;160(1):220-234. doi: 10.1210/en.2018-00569. PMID: 30496384
Schur E, Carnell S
Curr Obes Rep 2017 Dec;6(4):371-379. doi: 10.1007/s13679-017-0282-7. PMID: 29063380Free PMC Article
Williams PT
PLoS One 2012;7(2):e31436. Epub 2012 Feb 23 doi: 10.1371/journal.pone.0031436. PMID: 22384023Free PMC Article
Hinney A, Schmidt A, Nottebom K, Heibült O, Becker I, Ziegler A, Gerber G, Sina M, Görg T, Mayer H, Siegfried W, Fichter M, Remschmidt H, Hebebrand J
J Clin Endocrinol Metab 1999 Apr;84(4):1483-6. doi: 10.1210/jcem.84.4.5728. PMID: 10199800

Diagnosis

Barrea L, Pugliese G, de Alteriis G, Colao A, Savastano S, Muscogiuri G
Nutrients 2020 Jul 11;12(7) doi: 10.3390/nu12072065. PMID: 32664600Free PMC Article
Wang J, Zhao N, Mao X, Meng F, Huang K, Dong G, Ji Y, Fu J
Biosci Rep 2020 Jan 31;40(1) doi: 10.1042/BSR20192153. PMID: 31868206Free PMC Article
Levin BE
Brain Res 2010 Sep 2;1350:10-7. Epub 2010 Jan 6 doi: 10.1016/j.brainres.2009.12.085. PMID: 20059985Free PMC Article
LaNoue KF, Martin LF
FASEB J 1994 Jan;8(1):72-80. doi: 10.1096/fasebj.8.1.8299893. PMID: 8299893

Therapy

Bailey CJ, Flatt PR, Conlon JM
Peptides 2023 Mar;161:170939. Epub 2023 Jan 3 doi: 10.1016/j.peptides.2023.170939. PMID: 36608818
Deshpande SS, Nemani H, Pothani S, Khambata K, Kumar A, Kallamadi PR, Balasinor NH
Endocrinology 2019 Jan 1;160(1):220-234. doi: 10.1210/en.2018-00569. PMID: 30496384
Echwald SM, Sørensen TD, Sørensen TI, Tybjaerg-Hansen A, Andersen T, Chung WK, Leibel RL, Pedersen O
Biochem Biophys Res Commun 1997 Apr 7;233(1):248-52. doi: 10.1006/bbrc.1997.6430. PMID: 9144432

Prognosis

Barrea L, Pugliese G, de Alteriis G, Colao A, Savastano S, Muscogiuri G
Nutrients 2020 Jul 11;12(7) doi: 10.3390/nu12072065. PMID: 32664600Free PMC Article
Wang J, Zhao N, Mao X, Meng F, Huang K, Dong G, Ji Y, Fu J
Biosci Rep 2020 Jan 31;40(1) doi: 10.1042/BSR20192153. PMID: 31868206Free PMC Article

Clinical prediction guides

Bailey CJ, Flatt PR, Conlon JM
Peptides 2023 Mar;161:170939. Epub 2023 Jan 3 doi: 10.1016/j.peptides.2023.170939. PMID: 36608818
Barrea L, Pugliese G, de Alteriis G, Colao A, Savastano S, Muscogiuri G
Nutrients 2020 Jul 11;12(7) doi: 10.3390/nu12072065. PMID: 32664600Free PMC Article
Wang J, Zhao N, Mao X, Meng F, Huang K, Dong G, Ji Y, Fu J
Biosci Rep 2020 Jan 31;40(1) doi: 10.1042/BSR20192153. PMID: 31868206Free PMC Article
Deshpande SS, Nemani H, Pothani S, Khambata K, Kumar A, Kallamadi PR, Balasinor NH
Endocrinology 2019 Jan 1;160(1):220-234. doi: 10.1210/en.2018-00569. PMID: 30496384
Echwald SM, Sørensen TD, Sørensen TI, Tybjaerg-Hansen A, Andersen T, Chung WK, Leibel RL, Pedersen O
Biochem Biophys Res Commun 1997 Apr 7;233(1):248-52. doi: 10.1006/bbrc.1997.6430. PMID: 9144432

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