AICARDI-GOUTIERES SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: AGS2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 610181
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
 (HPO:0001258) Spastic paraplegia rare [HPO:skoehler] 97 / 7739
3
 (HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
4
 (HPO:0009704) Chronic CSF lymphocytosis 15908569 IBIS 2 / 7739
5
 (HPO:0001298) Encephalopathy 15908569 IBIS 72 / 7739
6
 (HPO:0002135) Basal ganglia calcification 15908569 IBIS 37 / 7739
7
 (HPO:0002059) Cerebral atrophy 15908569 IBIS 171 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of 18 unrelated families with AGS2, Crow et al. (2006) identified homozygous and compound heterozygous mutations in the RNASEH2B gene (see, e.g., 610326.0001-610326.0002). Most of the families were of European or North African descent.