/Aicardi-Goutieres syndrome 5

Aicardi-Goutieres syndrome 5

Rare Disease

MONDO:0013059

Also Known As

Aicardi-Goutieres syndrome 5Aicardi-Goutieres syndrome caused by mutation in SAMHD1Aicardi-Goutieres syndrome type 5SAMHD1 Aicardi-Goutieres syndromeAGS5SAMHD1-related Aicardi-Goutieres syndrome

Definition

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

SAMHD1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:612952 ↗

GARD

GARD:10151 ↗

Related Diseases

basal ganglia calcification, idiopathic, childhood-onset

MONDO:0007247

Rare

Aicardi-Goutieres syndrome 1

MONDO:0009165

Rare

Aicardi-Goutieres syndrome 2

MONDO:0012429

Rare

Aicardi-Goutieres syndrome 3

MONDO:0012471

Rare

Aicardi-Goutieres syndrome 4

MONDO:0012472

Rare

chilblain lupus 2

MONDO:0013739

Rare

← Back to All Diseases