Statements (39)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autoimmune disease |
| gptkbp:affects |
gptkb:skin
central nervous system |
| gptkbp:alternativeName |
gptkb:AGS
Aicardi-Goutieres syndrome |
| gptkbp:causedBy |
mutations in ADAR1 gene
mutations in IFIH1 gene mutations in RNASEH2A gene mutations in RNASEH2B gene mutations in RNASEH2C gene mutations in SAMHD1 gene mutations in TREX1 gene |
| gptkbp:diagnosedBy |
brain imaging
genetic testing cerebrospinal fluid analysis |
| gptkbp:firstDescribed |
1984
Françoise Goutières Jean Aicardi |
| gptkbp:hasOrphanetID |
ORPHA:51
|
| https://www.w3.org/2000/01/rdf-schema#label |
Aicardi-Goutières syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D020788
|
| gptkbp:OMIM |
225750
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
gptkb:encephalopathy
spasticity developmental delay microcephaly skin lesions chronic cerebrospinal fluid lymphocytosis intracranial calcifications |
| gptkbp:treatment |
supportive care
immunosuppressive therapy |
| gptkbp:bfsParent |
gptkb:Adenosine_deaminase_acting_on_RNA
gptkb:MDA5_protein |
| gptkbp:bfsLayer |
7
|