SGMRT2
MCID: SNG012
MIFTS: 21
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Singleton-Merten Syndrome 2 (SGMRT2)
Categories:
Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Singleton-Merten Syndrome 2:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Blood diseases Muscle diseases Oral diseases |
UniProtKB/Swiss-Prot :
73
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 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.
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). Affiliated tissues include smooth muscle, and related phenotypes are short stature and aortic valve stenosis OMIM : 56 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) |
Diseases in the Singleton-Merten Syndrome family:
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Human phenotypes related to Singleton-Merten Syndrome 2:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616298 |
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MalaCards organs/tissues related to Singleton-Merten Syndrome 2:40
Smooth Muscle
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Articles related to Singleton-Merten Syndrome 2:
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ClinVar genetic disease variations for Singleton-Merten Syndrome 2:6
UniProtKB/Swiss-Prot genetic disease variations for Singleton-Merten Syndrome 2:73
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Search
GEO
for disease gene expression data for Singleton-Merten Syndrome 2.
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