Aicardi-goutieres syndrome 6

Preferred Label : Aicardi-goutieres syndrome 6;

Symbol : AGS6;

CISMeF acronym : AGS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA-specific adenosine deaminase gene (ADAR, 146920.0007);

Laboratory abnormalities : Upregulation of alpha-interferon-stimulated genes;

Prefixed ID : #615010;

Details

Origin ID

615010;

UMLS CUI

C3539013;

DO Cross reference
- Aicardi-Goutieres syndrome [DO Concept]
Genes related to phenotype
- Adenosine deaminase, rna-specific [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral calcification [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Hemolytic anemia [HPO term]
- Leukodystrophy [HPO term]
- Loss of ability to walk [HPO term]
- Loss of speech [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Rigidity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
See also inter- (CISMeF)
- ADAR wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Aicardi-Goutieres syndrome [DO Concept]
- Aicardi-Goutières syndrome [ORDO Disease]

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