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Aicardi-Goutieres syndrome
Summary
- Synonym
-
- AGS
- Cree encephalitis
- Definition
- 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.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:0050629
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
| 2572 | GAD2 | glutamate decarboxylase 2 | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 8277 | TKTL1 | transketolase like 1 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P35354 | Prostaglandin G/H synthase 2 |
