Singleton-Merten Syndrome 1

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OMIM 57 182250 MedGen 42 C4225427 C0432254

MeSH 44 D001018 D010024 D014071 D030981 more SNOMED-CT via HPO 69 263681008 23986001 57190000 80967001 109542004 64859006 90128006 398151007 398152000 26544005 42343007 84114007 8186001 60573004 204368006 205091006 249808002 397932003 75789001 271706000 299236004 157265008 299330008 237836003 161832001 248342006 262285001 89362005 250978003 473372009 27201004 63122002 263057000 415749005 more

OMIM : ⁵⁷ Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015). (182250)

MalaCards based summary : Singleton-Merten Syndrome 1, also known as sgmrt1, is related to singleton-merten syndrome 2 and aicardi-goutieres syndrome 7. An important gene associated with Singleton-Merten Syndrome 1 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include bone, skin and heart, and related phenotypes are smooth philtrum and hypoplasia of the maxilla

UniProtKB/Swiss-Prot : ⁷⁵ Singleton-Merten syndrome 1: An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro- osteolysis, and to a lesser extend 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.

Clinical features from OMIM:

182250

Search Clinical Trials , NIH Clinical Center for Singleton-Merten Syndrome 1

Search GEO for disease gene expression data for Singleton-Merten Syndrome 1.