Aicardi-Goutieres Syndrome 5

Preferred Label : Aicardi-Goutieres Syndrome 5;

NCIt synonyms : AGS5;

NCIt definition : A genetic condition usually inherited in an autosomal recessive pattern. It is cause by mutation(s) in the SAMHD1 gene, encoding deoxynucleoside triphosphate triphosphohydrolase SAMHD1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.;

Details

Origin ID

C168564;

UMLS CUI

C2749659;

Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 5 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres syndrome 5 [MeSH Supplementary Concept]
- Aicardi-Goutieres syndrome 5 [MeSH concept]
- Aicardi-Goutières syndrome type 5 [ICD-11 More detail]
- Aicardi-goutieres syndrome 5 [OMIM Phenotype]
See also inter- (CISMeF)
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [ORDO Gene]
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres syndrome 5 [MeSH Supplementary Concept]
- Aicardi-Goutieres syndrome 5 [MeSH concept]
- Aicardi-goutieres syndrome 5 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SAMHD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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