ZFIN Human Disease: Aicardi-Goutieres syndrome

OBO ID: DOID:0050629

Term Name:	Aicardi-Goutieres syndrome		Search Ontology:
Synonyms:	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. (3)
References:	GARD:575 ICD10CM:G31.8 OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 OMIM:PS225750 ORDO:51
Ontology:	Human Disease ( DOID:0050629 )

Relationships

is a type of:	autosomal genetic disease syndrome autosomal genetic disease syndrome Show first 5 Terms

OTHER Aicardi-Goutieres syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ADAR	adar	Aicardi-Goutieres syndrome 6	615010
IFIH1	ifih1	Aicardi-Goutieres syndrome 7	615846
RNASEH2A	rnaseh2a	Aicardi-Goutieres syndrome 4	610333
RNASEH2B	rnaseh2b	Aicardi-Goutieres syndrome 2	610181
RNASEH2C	rnaseh2c	Aicardi-Goutieres syndrome 3	610329
SAMHD1	samhd1	Aicardi-Goutieres syndrome 5	612952
TREX1		Aicardi-Goutieres syndrome 1, dominant and recessive

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO1-samhd1	standard conditions	Kasher et al., 2015
AB + MO2-samhd1	standard conditions	Kasher et al., 2015

PHENOTYPE No data available

CITATIONS (1)