OBO ID: DOID:0050629 |
Term Name: | Aicardi-Goutieres syndrome | Search Ontology: | |
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Synonyms: |
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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. (3) | ||
References: |
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Ontology: | Human Disease ( DOID:0050629 ) |
OTHER Aicardi-Goutieres syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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ADAR | Aicardi-Goutieres syndrome 6 | 615010 | |
IFIH1 | Aicardi-Goutieres syndrome 7 | 615846 | |
RNASEH2A | Aicardi-Goutieres syndrome 4 | 610333 | |
RNASEH2B | Aicardi-Goutieres syndrome 2 | 610181 | |
RNASEH2C | Aicardi-Goutieres syndrome 3 | 610329 | |
SAMHD1 | Aicardi-Goutieres syndrome 5 | 612952 | |
TREX1 | Aicardi-Goutieres syndrome 1, dominant and recessive |
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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AB + MO1-samhd1 | standard conditions | Kasher et al., 2015 |
AB + MO2-samhd1 | standard conditions | Kasher et al., 2015 |
PHENOTYPE
No data available
CITATIONS (1)
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