Singleton-Merten syndrome

Singleton-Merten syndrome is an autosomal dominant disorder caused by mutations of the IFIH1 (type 1) und DDX58 (type 2) genes. It is characterized by dental dysplasia, progressive calcification of the thoracic aorta and the aortiv valve, osteoporosis generalized or limited to distal extremeties, and expansion of the marrow cavities in particular of hand bones. Additionally can develop facial dysmorphism, glaukoma, psoriasis-like rush, generalized muscular weakness, and recurrent infections.

Epidemiology

The prevalence of the whole group is less than 1:1,000,000.

Systematic

Autoinflammatory disease
	Autoinflammation with arthritis and dyskeratosis
	Autoinflammation, antibody deficiency, and immune dysregulation syndrome
	Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
	CARD14 associated psoriasis
	Chronic recurrent multifocal osteomyelitis
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	F12
	Familial cold autoinflammatory syndromes
	Hereditary pediatric Behçet-like disease
	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
	Inflammatory bowel disease
	Interleukin 10 deficiency
	Interleukin 10 receptor deficiency
	Interleukin-1 receptor antagonist deficiency
	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
	Proteasome-associated autoinflammatory syndrome
	Pseudo-TORCH-Syndrom
	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
	SH3BP2 deficienc with multilocular cysticy disease of the mandibles
	STING-associated vasculopathy with onset in infancy
	Singleton-Merten syndrome
		Singleton-Merten syndrome 1
			IFIH1
		Singleton-Merten syndrome 2
			DDX58
	Susceptibility to malignant hyperthermia 5
	Susceptibility to rheumatoid arthritis
	Systemic autoinflammatory disease
	Systemic-onset juvenile idiopathic arthritis
	TNF receptor-associated periodic syndrome

References:

1.	Valverde I et al. (2010) Singleton-merten syndrome and impaired cardiac function.

2.	Rutsch F et al. (2015) A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

3.	Jang MA et al. (2015) Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

4.	Gay BB et al. (1976) A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome).

5.	Singleton EB et al. (1973) An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition.

6.	Feigenbaum A et al. (2013) Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

7.	Wikipedia article Wikipedia EN (Singleton_Merten_syndrome)

Update: Aug. 14, 2020

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