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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Decreased resting energy expenditure
MedGen UID:
868548
•Concept ID:
C4022947
•
Finding
A reduction in the number of calories used per unit time.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Towards clinical utility of polygenic risk scores.
Lambert SA, Abraham G, Inouye M
Hum Mol Genet 2019 Nov 21;28(R2):R133-R142. doi: 10.1093/hmg/ddz187. PMID: 31363735
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
Risk factors contributing to type 2 diabetes and recent advances in the treatment and prevention.
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

Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family.
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
Genetically Inherited Obesity and High-Fat Diet-Induced Obesity Differentially Alter Spermatogenesis in Adult Male Rats.
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
What Twin Studies Tell Us About Brain Responses to Food Cues.
Schur E, Carnell S
Curr Obes Rep 2017 Dec;6(4):371-379. doi: 10.1007/s13679-017-0282-7. PMID: 29063380Free PMC Article
Gastroesophageal reflux disease in monozygotic and dizygotic twins.
Cameron AJ, Lagergren J, Henriksson C, Nyren O, Locke GR 3rd, Pedersen NL
Gastroenterology 2002 Jan;122(1):55-9. doi: 10.1053/gast.2002.30301. PMID: 11781280
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
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

Phase Angle: Could Be an Easy Tool to Detect Low-Grade Systemic Inflammation in Adults Affected by Prader-Willi Syndrome?
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
Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family.
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
Interaction of perinatal and pre-pubertal factors with genetic predisposition in the development of neural pathways involved in the regulation of energy homeostasis.
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
Abnormal A1 adenosine receptor function in genetic obesity.
LaNoue KF, Martin LF
FASEB J 1994 Jan;8(1):72-80. doi: 10.1096/fasebj.8.1.8299893. PMID: 8299893

Therapy

An update on peptide-based therapies for type 2 diabetes and obesity.
Bailey CJ, Flatt PR, Conlon JM
Peptides 2023 Mar;161:170939. Epub 2023 Jan 3 doi: 10.1016/j.peptides.2023.170939. PMID: 36608818
Genetically Inherited Obesity and High-Fat Diet-Induced Obesity Differentially Alter Spermatogenesis in Adult Male Rats.
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
Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity.
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

Phase Angle: Could Be an Easy Tool to Detect Low-Grade Systemic Inflammation in Adults Affected by Prader-Willi Syndrome?
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
Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family.
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

An update on peptide-based therapies for type 2 diabetes and obesity.
Bailey CJ, Flatt PR, Conlon JM
Peptides 2023 Mar;161:170939. Epub 2023 Jan 3 doi: 10.1016/j.peptides.2023.170939. PMID: 36608818
Phase Angle: Could Be an Easy Tool to Detect Low-Grade Systemic Inflammation in Adults Affected by Prader-Willi Syndrome?
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
Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family.
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
Genetically Inherited Obesity and High-Fat Diet-Induced Obesity Differentially Alter Spermatogenesis in Adult Male Rats.
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
Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity.
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

Supplemental Content

Table of contents

    Clinical resources

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    • PubMed
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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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