Aicardi-goutieres syndrome 5

Preferred Label : Aicardi-goutieres syndrome 5;

Symbol : AGS5;

CISMeF acronym : AGS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SAM domain- and HD domain-containing protein 1 gene (SAMHD1, 606754.0001);

Laboratory abnormalities : CSF lymphocytosis (in some patients); Increased CSF alpha-interferon;

Prefixed ID : #612952;

Détails

Origin ID

612952;

UMLS CUI

C2749659;

Automatic exact mappings (from CISMeF team)
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [ORDO Gene]
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [HGNC gene]
- SAMHD1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 5 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres Syndrome 5 [NCIt concept]
- Aicardi-Goutieres syndrome 5 [MeSH concept]
- Aicardi-Goutieres syndrome 5 [MeSH Supplementary Concept]
- Aicardi-Goutières syndrome type 5 [ICD-11 More detail]
DO Cross reference
- Aicardi-Goutieres syndrome [DO Concept]
Genes related to phenotype
- Sam domain- and hd domain-containing protein 1 [OMIM gene]
HPO term(s)
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- CSF lymphocytic pleiocytosis [HPO term]
- Chilblains [HPO term]
- Deep white matter hypodensities [HPO term]
- Dry skin [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Irritability [HPO term]
- Leukodystrophy [HPO term]
- Leukoencephalopathy [HPO term]
- Microcephaly [HPO term]
- Scaling skin [HPO term]
- Spasticity [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres Syndrome 5 [NCIt concept]
- Aicardi-Goutieres syndrome 5 [MeSH Supplementary Concept]
- Aicardi-Goutieres syndrome 5 [MeSH concept]

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