Obesity due to MC3R deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: OBESITY, SUSCEPTIBILITY TO
BMIQ9
Number of Symptoms 3
OrphanetNr: 217031
OMIM Id: 602025
ICD-10: E66.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic obesity
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001513) Obesity 172 / 7739
2
(OMIM) Fasting insulin levels 1 / 7739
3
(OMIM) Body fat content 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a 13-year-old obese girl and her father, Lee et al. (2002) identified a heterozygous mutation (I183N; 155540.0001) in the MC3R gene. Functional characterization of the I183N mutant by Tao and Segaloff (2004) demonstrated a complete lack of ...