Aicardi-Goutieres syndrome

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Information
Disease name
Aicardi-Goutieres syndrome
Disease ID
DOID:0050629
Description
"A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections." [url:http\://omim.org/entry/225750, url:http\://www.ncbi.nlm.nih.gov/books/NBK1475/, url:https\://agsaa.org/about-ags]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
ATRIP 3 48,446,737 48,467,645 24
TREX1 3 48,466,230 48,467,645 24
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:575
Cross Reference ID (Disease Ontology)
ICD10CM:G31.8
Cross Reference ID (Disease Ontology)
MIM:225750
Cross Reference ID (Disease Ontology)
MIM:610181
Cross Reference ID (Disease Ontology)
MIM:610329
Cross Reference ID (Disease Ontology)
MIM:610333
Cross Reference ID (Disease Ontology)
MIM:612952
Cross Reference ID (Disease Ontology)
MIM:615010
Cross Reference ID (Disease Ontology)
MIM:615846
Cross Reference ID (Disease Ontology)
MIM:PS225750
Cross Reference ID (Disease Ontology)
ORDO:51
Exact Synonym (Disease Ontology)
AGS
Exact Synonym (Disease Ontology)
Cree encephalitis
OMIM Phenotype Series Number (OMIM)
PS225750