How rare is Aicardi Goutieres syndrome?

How rare is Aicardi Goutieres syndrome?

These seven genes include TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1. Aicardi-Goutières Syndrome is listed as a rare disease by the Office of Rare Diseases of the National Institutes of Health (NIH). Aicardi-Goutières Syndrome affects less than 200,000 people in the US population.

Is Aicardi Goutieres syndrome curable?

There is no known cure for AGS, but treatment is available to manage symptoms and to help keep children comfortable. Because children with AGS present with different symptoms, the treatment plan for each child is unique. Some children with AGS need treatment for respiratory problems.

What causes Aicardi Goutières syndrome?

Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, AGS2 is caused by a mutation in the RNASEH2B gene, AGS3 is caused by a mutation in the RNASEH2C gene, AGS4 is caused by a mutation in the RNASEH2A gene.

What is Interferonopathy?

Backgrounds: Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the clinical phenotypes are diverse.

Is Aicardi syndrome detectable prior to birth?

The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.

Is Aicardi Goutieres syndrome terminal?

What are the symptoms of Aicardi-Goutieres Syndrome? Symptoms of Aicardi-Goutieres Syndrome usually appear within the first six months of life. Aicardi-Goutieres Syndrome is generally either fatal, or else it results in a persistent vegetative state in early childhood.

What is Aicardi syndrome prognosis?

The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30’s and 40’s. Very severe cases may not live beyond infancy.

What is Savi disease?

STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin , blood vessels , and lungs .