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Singleton-Merten syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
Uniprot Description An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments.
Mondo Term and Equivalent IDs
MONDO:0024535:  Singleton-Merten syndrome 1
UMLS:C4225427: