AICARDI-GOUTIERES SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: AGS3
Number of Symptoms 17
OrphanetNr:
OMIM Id: 610329
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:0000253) Progressive microcephaly 16845400 IBIS 37 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0200149) CSF lymphocytic pleiocytosis 3 / 7739
4
 (HPO:0001332) Dystonia 16845400 IBIS 197 / 7739
5
 (HPO:0001298) Encephalopathy 72 / 7739
6
 (HPO:0001257) Spasticity 16845400 IBIS 251 / 7739
7
 (HPO:0011344) Severe global developmental delay 16845400 IBIS 46 / 7739
8
 (HPO:0001347) Hyperreflexia 363 / 7739
9
 (HPO:0002514) Cerebral calcification 16845400 IBIS 89 / 7739
10
 (HPO:0002910) Elevated hepatic transaminases 16845400 IBIS 158 / 7739
11
 (HPO:0001433) Hepatosplenomegaly 16845400 IBIS 78 / 7739
12
 (HPO:0001873) Thrombocytopenia 16845400 IBIS 224 / 7739
13
 (HPO:0001252) Muscular hypotonia 990 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0003819) Death in childhood 42 / 7739
16
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
17
 (HPO:0012448) Delayed myelination 51 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of 5 Pakistani families with AGS3, Crow et al. (2006) identified a homozygous mutation in the RNASH2C gene (610330.0001). Haplotype analysis suggested a founder effect. Affected members of a Pakistani family carried another homozygous mutation ...