Singleton-Merten syndrome 1 is an autosomal dominant disorder caused by mutations of the IFIH1 gene. It is characterized by dental dysplasia, progressive calcification of the thoracic aorta and the aortiv valve, osteoporosis, and expansion of the marrow cavities. Additionally can develop glaukoma and psoriasis-like skin leasons.
The prevalence of all Singleton-Merten syndromes is less than 1:1,000,000.
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Valverde I et al. (2010) Singleton-merten syndrome and impaired cardiac function. |
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Rutsch F et al. (2015) A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. |
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Gay BB et al. (1976) A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). |
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Singleton EB et al. (1973) An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition. |
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Feigenbaum A et al. (2013) Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. |
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Wikipedia article Wikipedia EN (Singleton_Merten_syndrome) |