Gene: TGDS

Alternate names for this Gene: CATMANS|SDR2E1|TDPGD

Gene Summary: The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.1

Description of this Gene: TDP-glucose 4,6-dehydratase

Type of Gene: protein-coding

rs140430952 in TGDS gene and Catel Manzke syndrome PMID 25480037 2014 Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

rs140430952 in TGDS gene and Multiple congenital anomalies PMID 21834032 2011 Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

PMID 28422407 2017 Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

PMID 25480037 2014 Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

PMID 26366375 2015 Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

PMID 14564220 2003 Catel-Manzke syndrome without cleft palate: a case report.

PMID 24326962 2013 A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome.

PMID 18501694 2008 Catel-Manzke syndrome: two new patients and a critical review of the literature.

rs2298058 in TGDS gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.