TGDS
Involvement in disease
Catel-Manzke syndrome
CATMANS
A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia).
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily.
Alternative names
TGDS