Singleton-Merten Syndrome 2

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OMIM 57 616298 MedGen 42 C4225380 CN229494

MeSH 44 D001018 D010024 D030981 SNOMED-CT via HPO 69 263681008 23986001 26996000 396228006 399955009 60573004 237836003 more

UniProtKB/Swiss-Prot : ⁷⁵ Singleton-Merten syndrome 2: A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extend 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.

MalaCards based summary : Singleton-Merten Syndrome 2, is also known as sgmrt2. An important gene associated with Singleton-Merten Syndrome 2 is DDX58 (DExD/H-Box Helicase 58). Related phenotypes are short stature and hyperkeratosis

OMIM : ⁵⁷ Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250). (616298)

Clinical features from OMIM:

616298

Search Clinical Trials , NIH Clinical Center for Singleton-Merten Syndrome 2

Search GEO for disease gene expression data for Singleton-Merten Syndrome 2.