Singleton-Merten Syndrome 1 (SGMRT1)

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OMIM® 57 182250 OMIM Phenotypic Series 57 PS182250 MeSH 44 D001018 D010024 D014071 D030981 more

MedGen 41 C0432254 C4225427 SNOMED-CT via HPO 68 109542004 157265008 161832001 204368006 205091006 237836003 23986001 248342006 249808002 250978003 262285001 263057000 263681008 26544005 271706000 27201004 299236004 299330008 397932003 398151007 398152000 415749005 42343007 473372009 57190000 60573004 63122002 64859006 67867005 75789001 80967001 8186001 84114007 89362005 90128006 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) (Updated 05-Mar-2021)

MalaCards based summary : Singleton-Merten Syndrome 1, also known as sgmrt1, is related to singleton-merten syndrome 2. An important gene associated with Singleton-Merten Syndrome 1 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include bone and heart, and related phenotypes are muscle weakness and recurrent respiratory infections

UniProtKB/Swiss-Prot : ⁷³ 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 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.

Clinical features from OMIM®:

182250 (Updated 05-Mar-2021)

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

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