AICARDI-GOUTIERES SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs: AGS5
Number of Symptoms 6
OrphanetNr:
OMIM Id: 612952
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:0001263) Global developmental delay 853 / 7739
2
(HPO:0009710) Chilblain lesions 3 / 7739
3
(HPO:0002135) Basal ganglia calcification 37 / 7739
4
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
(HPO:0002415) Leukodystrophy 30 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rice et al. (2009) reported 13 probands with Aicardi-Goutieres syndrome. The families were of diverse ethnic backgrounds, including Hungarian, Maltese, Indian, French, Canadian, Moroccan, and Pakistani. Several of the families were consanguineous. Clinical features included onset in infancy ...
Molecular genetics OMIM By genomewide linkage analysis and candidate gene sequencing of multiple families with Aicardi-Goutieres syndrome, Rice et al. (2009) identified homozygous or compound heterozygous mutations in the SAMDH1 gene (see, e.g., 606754.0001-606754.0007). All of the mutations involved highly conserved ...