Details of Disease

General Information of Disease (ID: DISFLGUV)

Disease Name Obesity due to leptin receptor gene deficiency
Synonyms obesity, morbid, nonsyndromic 2; leptin receptor deficiency; obesity due to leptin receptor gene deficiency; LEPR Deficiency; obesity, morbid, due to leptin receptor deficiency
Disease Hierarchy
DISEV092: Congenital hypogonadotropic hypogonadism
DISVH4OT: Inherited obesity
DISFLGUV: Obesity due to leptin receptor gene deficiency
Disease Identifiers
MONDO ID
MONDO_0013992
UMLS CUI
C3554225
OMIM ID
614963
MedGen ID
767139
Orphanet ID
179494

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LEPR TT0HD6V Strong Autosomal recessive [1]
LEPR TT0HD6V Strong Altered Expression [2]
MC4R TTD0CIQ Strong Biomarker [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LEPR OT9H7G0C Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Elevated expression of the leptin receptor obR may contribute to inflammation in patients with ulcerative colitis.Mol Med Rep. 2019 Nov;20(5):4706-4712. doi: 10.3892/mmr.2019.10720. Epub 2019 Oct 1.
3 Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment.Trends Mol Med. 2019 Feb;25(2):136-148. doi: 10.1016/j.molmed.2018.12.002. Epub 2019 Jan 11.