Details of Disease

General Information of Disease (ID: DISVH4OT)

Disease Name Inherited obesity
Synonyms
obesity, late-onset, Autosomal recessive; genetic obesity; obesity, severe, Autosomal recessive; obesity, association with, Autosomal recessive; monogenic obesity; leanness, inherited, autosomal recessive; obesity, mild, early-onset, Autosomal recessive; obesity, susceptibility to, Autosomal recessive; genetic obesity (disease); obesity, severe, and type II diabetes, Autosomal recessive; obesity, early-onset, susceptibility to, Autosomal recessive
Disease Hierarchy
DISRGY2N: Endocrine disease
DISYKSRF: Genetic disease
DIS47Y1K: Obesity
DISVH4OT: Inherited obesity
Disease Identifiers
MONDO ID
MONDO_0019182
UMLS CUI
C4054476
MedGen ID
885912
Orphanet ID
77828

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MC3R TTNI91K moderate Genetic Variation [1]
MC4R TTD0CIQ Strong Autosomal dominant [2]
POMC TT21AKM Strong Semidominant [3]
MC4R TTD0CIQ Definitive Genetic Variation [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CARTPT OTTE4V9S Limited Autosomal dominant [3]
CREBRF OT2GK1HI Limited Autosomal dominant [3]
SIM1 OTYKFPKZ moderate Biomarker [5]
MC4R OT7WIVBK Strong Autosomal dominant [2]
POMC OTV41F7T Strong Semidominant [3]
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References

1 Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects.Biochim Biophys Acta. 2007 Oct;1772(10):1167-74. doi: 10.1016/j.bbadis.2007.09.002. Epub 2007 Oct 15.
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 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.J Clin Endocrinol Metab. 2019 Jul 1;104(7):2961-2970. doi: 10.1210/jc.2018-02657.
5 Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.Diabetes. 2009 Jul;58(7):1682-9. doi: 10.2337/db09-0028. Epub 2009 Apr 28.