THIOUREA TASTINGPHENYLTHIOCARBAMIDE TASTING, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs: PTC TASTING, INCLUDED
PROPYLTHIOURACIL TASTING, INCLUDED
PROP TASTING, INCLUDED
Number of Symptoms 3
OrphanetNr:
OMIM Id: 171200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000818) Abnormality of the endocrine system 26 / 7739
2
(OMIM) Relationship between PTC nontasting to cretinism 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors ...
Clinical Description OMIM Variation in the ability to taste PTC was discovered by Fox (1931). Supplementation of the standard test using quinine in the intermediate cases was suggested by Kalmus (1958). There has been a suggestion that PTC tasting in man ...
Molecular genetics OMIM Kim et al. (2003) cloned the TAS2R38 gene (607751) and identified 3 coding SNPs giving rise to 5 haplotypes worldwide that completely explained the bimodal distribution of PTC taste sensitivity. Distinct phenotypes were associated with specific haplotypes, which ...
Population genetics OMIM Kim and Drayna (2004) stated that the frequency of PTC nontasters in Caucasians is approximately 28%.

Henkin and Gillis (1977) observed that 2 of 8 people served a pie made from berries of the tree Antidesma ...