GLYCEROL QUANTITATIVE TRAIT LOCUS

General Information (adopted from Orphanet):

Synonyms, Signs: BMIQ17, INCLUDED
GLYCQTL
GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 17, INCLUDED
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614411
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
2
(OMIM) Defective glycerol release during exercise 1 / 7739
3
(OMIM) Normal plasma glycerol level at rest 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Kondo et al. (2002) identified homozygosity for a missense mutation in the AQP7 gene (G264V; 602974.0001) in a 48-year-old Japanese man who exhibited greatly diminished glycerol release during exercise, despite a normal increase in plasma noradrenaline. The man ...