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exostoses, multiple, type 1

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.
Uniprot Description EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.
Mondo Term and Equivalent IDs
MONDO:0007585:  exostoses, multiple, type 1
GARD:0002204: