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Singleton-Merten syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
Uniprot Description A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies.
Mondo Term and Equivalent IDs
MONDO:0014575:  Singleton-Merten syndrome 2
UMLS:C4225380: