U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Melanocortin Pathway Defect

MedGen UID:
886705
Concept ID:
C4054545
Finding

Definition

An abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain and hypothalamus. [from NCI]

Professional guidelines

PubMed

Hannah-Shmouni F, Stratakis CA
Horm Metab Res 2020 Mar;52(3):133-141. Epub 2020 Mar 25 doi: 10.1055/a-1107-2972. PMID: 32215884
Vassiliadi DA, Tsagarakis S
Endocr Relat Cancer 2019 Oct 1;26(10):R567-R581. doi: 10.1530/ERC-19-0240. PMID: 32053747
Kühnen P, Krude H, Biebermann H
Trends Mol Med 2019 Feb;25(2):136-148. Epub 2019 Jan 11 doi: 10.1016/j.molmed.2018.12.002. PMID: 30642682

Recent clinical studies

Etiology

Pomeroy J, Offenwanger KM, Timmler T
Curr Opin Endocrinol Diabetes Obes 2023 Feb 1;30(1):27-31. Epub 2022 Dec 8 doi: 10.1097/MED.0000000000000788. PMID: 36476576
Bouchard C
Obesity (Silver Spring) 2021 May;29(5):802-820. doi: 10.1002/oby.23116. PMID: 33899337
Hall JE, Mouton AJ, da Silva AA, Omoto ACM, Wang Z, Li X, do Carmo JM
Cardiovasc Res 2021 Jul 7;117(8):1859-1876. doi: 10.1093/cvr/cvaa336. PMID: 33258945Free PMC Article
Hannah-Shmouni F, Stratakis CA
Horm Metab Res 2020 Mar;52(3):133-141. Epub 2020 Mar 25 doi: 10.1055/a-1107-2972. PMID: 32215884
Kühnen P, Krude H, Biebermann H
Trends Mol Med 2019 Feb;25(2):136-148. Epub 2019 Jan 11 doi: 10.1016/j.molmed.2018.12.002. PMID: 30642682

Diagnosis

Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS
N Engl J Med 2021 Oct 21;385(17):1581-1592. Epub 2021 Oct 6 doi: 10.1056/NEJMoa2103329. PMID: 34614324
Hannah-Shmouni F, Stratakis CA
Horm Metab Res 2020 Mar;52(3):133-141. Epub 2020 Mar 25 doi: 10.1055/a-1107-2972. PMID: 32215884
Vassiliadi DA, Tsagarakis S
Endocr Relat Cancer 2019 Oct 1;26(10):R567-R581. doi: 10.1530/ERC-19-0240. PMID: 32053747
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJ, Metherell LA
Endocr Dev 2013;24:57-66. Epub 2013 Feb 1 doi: 10.1159/000342504. PMID: 23392095
Sachar EJ, Baron M
Annu Rev Neurosci 1979;2:505-17. doi: 10.1146/annurev.ne.02.030179.002445. PMID: 231927

Therapy

Trapp CM, Censani M
Curr Opin Endocrinol Diabetes Obes 2023 Apr 1;30(2):136-140. Epub 2023 Feb 1 doi: 10.1097/MED.0000000000000798. PMID: 36722447Free PMC Article
Kühnen P, Krude H, Biebermann H
Trends Mol Med 2019 Feb;25(2):136-148. Epub 2019 Jan 11 doi: 10.1016/j.molmed.2018.12.002. PMID: 30642682
Farooqi IS
Front Horm Res 2008;36:1-11. doi: 10.1159/000115333. PMID: 18230891
Kelestimur F
Pediatr Endocrinol Rev 2006 Aug;3 Suppl 3:451-4. PMID: 17551465
Sachar EJ, Baron M
Annu Rev Neurosci 1979;2:505-17. doi: 10.1146/annurev.ne.02.030179.002445. PMID: 231927

Prognosis

Mainieri F, La Bella S, Rinaldi M, Chiarelli F
Eur J Pediatr 2024 Apr;183(4):1499-1508. Epub 2024 Jan 16 doi: 10.1007/s00431-024-05427-4. PMID: 38227053
Rebollar-Vega RG, Zuarth-Vázquez JM, Hernández-Ramírez LC
Arch Med Res 2023 Dec;54(8):102899. Epub 2023 Nov 2 doi: 10.1016/j.arcmed.2023.102899. PMID: 37925320
Ayers KL, Glicksberg BS, Garfield AS, Longerich S, White JA, Yang P, Du L, Chittenden TW, Gulcher JR, Roy S, Fiedorek F, Gottesdiener K, Cohen S, North KE, Schadt EE, Li SD, Chen R, Van der Ploeg LHT
J Clin Endocrinol Metab 2018 Jul 1;103(7):2601-2612. doi: 10.1210/jc.2018-00258. PMID: 29726959Free PMC Article
Simone V, D'Avenia M, Argentiero A, Felici C, Rizzo FM, De Pergola G, Silvestris F
Oncologist 2016 Apr;21(4):404-17. Epub 2016 Feb 10 doi: 10.1634/theoncologist.2015-0351. PMID: 26865587Free PMC Article
Sherbet GV
Vitam Horm 2005;71:147-200. doi: 10.1016/S0083-6729(05)71006-2. PMID: 16112268

Clinical prediction guides

Trapp CM, Censani M
Curr Opin Endocrinol Diabetes Obes 2023 Apr 1;30(2):136-140. Epub 2023 Feb 1 doi: 10.1097/MED.0000000000000798. PMID: 36722447Free PMC Article
Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS
N Engl J Med 2021 Oct 21;385(17):1581-1592. Epub 2021 Oct 6 doi: 10.1056/NEJMoa2103329. PMID: 34614324
Bouchard C
Obesity (Silver Spring) 2021 May;29(5):802-820. doi: 10.1002/oby.23116. PMID: 33899337
Simone V, D'Avenia M, Argentiero A, Felici C, Rizzo FM, De Pergola G, Silvestris F
Oncologist 2016 Apr;21(4):404-17. Epub 2016 Feb 10 doi: 10.1634/theoncologist.2015-0351. PMID: 26865587Free PMC Article
Sachar EJ, Baron M
Annu Rev Neurosci 1979;2:505-17. doi: 10.1146/annurev.ne.02.030179.002445. PMID: 231927

Recent systematic reviews

Belvederi Murri M, Prestia D, Mondelli V, Pariante C, Patti S, Olivieri B, Arzani C, Masotti M, Respino M, Antonioli M, Vassallo L, Serafini G, Perna G, Pompili M, Amore M
Psychoneuroendocrinology 2016 Jan;63:327-42. Epub 2015 Oct 21 doi: 10.1016/j.psyneuen.2015.10.014. PMID: 26547798

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...