Aicardi-Goutieres syndrome 5
Findings
No curated finding names Aicardi-Goutieres syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013059), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 14 of 14 reported patients
- Increased circulating interferon-gamma concentrationHPOHP:0030356
- 8 of 8 reported patients
- LeukodystrophyHPOHP:0002415
- 17 of 18 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 15 of 19 reported patients
- CSF lymphocytic pleiocytosisHPOHP:0200149
- 9 of 12 reported patients
- Intracerebral periventricular calcificationsHPOHP:0007229
- 12 of 19 reported patients
- Chilblains
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAMHD1HGNC:15925
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Aicardi-Goutieres syndrome 5
- Also called
- Aicardi-Goutieres syndrome caused by mutation in SAMHD1Aicardi-Goutieres syndrome type 5SAMHD1 Aicardi-Goutieres syndrome