Aicardi-Goutieres syndrome 7

Aicardi-Goutieres syndrome 7 is an autosomal dominant disorder caused by mutations of the IFIH1 gene. Aicardi-Goutieres syndrome is characterized by subacute encephalopathy with basal ganglia calcification, cystic leukodystrophy, lymphocytosis of the cerebrospinal fluid. The onset is usually soon after birth, but also milder cases with normal cognitive function have been reported.

Epidemiology

The prevalence of all types of Aicardi-Goutieres syndrome is less than 1-5:10,000.

Systematic

Aicardi-Goutieres syndrome
	Aicardi-Goutieres syndrome 1
	Aicardi-Goutieres syndrome 2
	Aicardi-Goutieres syndrome 3
	Aicardi-Goutieres syndrome 4
	Aicardi-Goutieres syndrome 5
	Aicardi-Goutieres syndrome 6
	Aicardi-Goutieres syndrome 7
		IFIH1

References:

1.	Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

2.	Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.

3.	Rice GI et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

4.	Oda H et al. (2014) Aicardi-Goutières syndrome is caused by IFIH1 mutations.

5.	Wikipedia article Wikipedia EN (Aicardi–Goutières_syndrome)