Details of Disease

General Information of Disease (ID: DISIWOVJ)

Disease Name Obesity due to congenital leptin deficiency
Synonyms LEPD; obesity, morbid, nonsyndromic 1; leptin deficiency or dysfunction; obesity, morbid, due to leptin deficiency; Congenital Leptin Deficiency
Definition Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.
Disease Hierarchy
DISEV092: Congenital hypogonadotropic hypogonadism
DISVH4OT: Inherited obesity
DISIWOVJ: Obesity due to congenital leptin deficiency
Disease Identifiers
MONDO ID
MONDO_0013991
UMLS CUI
C3554224
OMIM ID
614962
MedGen ID
767138
Orphanet ID
66628
SNOMED CT ID
700150001

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
CMKLR1 TT4UGZL Strong Biomarker [1]
LEP TTBJEZ5 Strong Autosomal recessive [2]
NPY2R TTJ6WK9 Strong Altered Expression [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LEP OT5Q7ODW Strong Autosomal recessive [2]
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References

1 Ex vivo analysis of serum chemerin activity in murine models of obesity.Cytokine. 2018 Apr;104:42-45. doi: 10.1016/j.cyto.2018.02.004. Epub 2018 Feb 6.
2 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.
3 Leptin siRNA promotes ovarian granulosa cell apoptosis and affects steroidogenesis by increasing NPY2 receptor expression.Gene. 2017 Oct 30;633:28-34. doi: 10.1016/j.gene.2017.08.028. Epub 2017 Aug 31.