DISEASE: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Entry
H02801 Disease
Name
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Description
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is a rare autosomal recessive disease characterized by an unusual combination of highly variable skeletal defects in vertebrae and leg bones, and additionally hand and foot malformations. It has been reported that mutations in CHST11 cause this disease. CHST11 is a membrane protein of Golgi that catalyzes chondroitin sulfation. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02801 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA
Title
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
