Obesity Due To Melanocortin 4 Receptor Deficiency

Description

Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.

Clinical Features

Phenotypes and symptoms related to Obesity Due To Melanocortin 4 Receptor Deficiency

  • Hypertension
  • Obesity
  • Type II diabetes mellitus
  • Hypertriglyceridemia
  • Acanthosis nigricans
  • Hyperinsulinemia
  • Polyphagia
  • Increased adipose tissue
  • Childhood-onset truncal obesity

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Obesity Due To Melanocortin 4 Receptor Deficiency Is also known as mc4r deficiency.

Researches and researchers

Doctors, researchs, and experts related to Obesity Due To Melanocortin 4 Receptor Deficiency extracted from public data.

Obesity Due To Melanocortin 4 Receptor Deficiency Experts map



Current Researchs and researchers

  • BERLIN — Dr Heike BIEBERMANN

    Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      Molecular genetics of adipositas: relevance of mutations in the POMC and MC4R genes


  • TORINO — Dr Emilio HIRSCH

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Torino
    • Research area/topic::

      Improving MC4R signaling via isoform selective pi3k targeting to fight melanocortin obesity syndrome



Mendelian

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Obesity Due To Melanocortin 4 Receptor Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Early Onset Obesity (MC4R) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

MC4R
Specificity
100 %
Genes
100 %
Early Onset Obesity Panel.

By Athena Diagnostics Inc (United States).

LEPR, MC4R
Specificity
50 %
Genes
100 %
MC4R-Related Inherited obesity.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

MC4R
Specificity
100 %
Genes
100 %
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Non-syndromic Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

UCP3, DYRK1B, LEP, LEPR, MC4R, NR0B2, POMC
Specificity
15 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Non-Syndromic Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

UCP3, DYRK1B, LEP, LEPR, MC4R, NR0B2, POMC
Specificity
15 %
Genes
100 %
MC4R. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MC4R
Specificity
100 %
Genes
100 %

We have 31 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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