GenTIGSA Gene Database on Rare Genetic Disorders
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Aicardi-Goutieres Syndrome 6  
Disease Aliases (14)

Ags

Aicardi goutieres syndrome

Aicardi-goutieres syndrome 1

Aicardi-goutieres syndrome 2

Aicardi-goutières syndrome

Cree encephalitis

Encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis

Encephalopathy with basal ganglia calcification

Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis

Familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis

Pseudo-torch syndrome

Pseudotoxoplasmosis syndrome

Associated Genes (7)
 

NCBI-RefSeq:  SAMHD1   (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RNASEH2C   (Ribonuclease H2 subunit C)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RNASEH2B   (Ribonuclease H2 subunit B)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFIH1   (Interferon induced with helicase C domain 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ADAR   (Adenosine deaminase RNA specific)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TREX1   (Three prime repair exonuclease 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RNASEH2A   (Ribonuclease H2 subunit A)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Aicardi-Goutieres syndrome 6 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations