Details of Disease

General Information of Disease (ID: DISRF42A)

Disease Name Aicardi-Goutieres syndrome 8
Synonyms Aicardi-Goutieres syndrome 8; AGS8
Definition
A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.
Disease Hierarchy
DIS1NH4X: Aicardi-Goutieres syndrome
DISRF42A: Aicardi-Goutieres syndrome 8
Disease Identifiers
MONDO ID
MONDO_0030361
UMLS CUI
C5551352
OMIM ID
619486
MedGen ID
1790409

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LSM11 OTN9M7QG Limited Unknown [1]
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References

1 cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23.