Renal Tubulopathies and related disorders
Gene: GALNT3
GALNT3 is one of several enzymes that catalyze the reaction UDP-GalNAc + polypeptide-(Ser/Thr)-OH to GalNAc-alpha-O-Ser/Thr-polypeptide + UDP, thereby initiating O-glycosylation of serine and threonine residues on an array of glycoproteins.
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterised by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. More than 5 unrelated families reported.Created: 19 May 2022, 5:06 a.m. | Last Modified: 19 May 2022, 5:06 a.m.
Panel Version: 0.14579
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Publications
gene: GALNT3 was added gene: GALNT3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 20358599; 32125652; 15133511 Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900