Aicardi-goutieres syndrome 1

Preferred Label : Aicardi-goutieres syndrome 1;

Symbol : AGS1;

CISMeF acronym : AGS; AGS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis; Cree encephalitis; Pseudotoxoplasmosis syndrome; AGS;

Included titles and symbols : Aicardi-goutieres syndrome 1, autosomal dominant;

Description : Aicardi-Goutieres syndrome is a genetically heterogeneous autosomal recessive encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1; 147660), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006). In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene. Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (251290), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (304050), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. - Genetic Heterogeneity of Aicardi-Goutieres Syndrome See also AGS2 (610181), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B; 610326) on chromosome 13q; AGS3 (610329), caused by mutation in the RNASEH2C gene (610330) on chromosome 11q13.2; AGS4 (610333), caused by mutation in the RNASEH2A gene (606034) on chromosome 19p13.13; AGS5 (612952), caused by mutation in the SAMHD1 gene (606754) on chromosome 20; and AGS6 (615010), caused by mutation in the ADAR1 gene (146920) on chromosome 1q21.;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, 606609.0001);

Laboratory abnormalities : Increased CSF alpha-interferon; Increased serum alpha-interferon (IFNA1, 147660); CSF lymphocytosis; Abnormal liver function tests;

Prefixed ID : #225750;

Details

Origin ID

225750;

UMLS CUI

C0796126;

Automatic exact mappings (from CISMeF team)
- A Ag [LOINC component]
- Ageing [HPMULTI term]
- Ageing associated decline in intrinsic capacity [ICD-11 Category]
- Aging [ICNP subject]
- Aging (finding) [SNOMED CT concept]
- Dexamethasone-Induced RAS-Related Protein 1 [NCIt concept]
- JAG1 wt Allele [NCIt concept]
- RASD1 wt Allele [NCIt concept]
- Silver [NCIt concept]
- TREX1 wt Allele [NCIt concept]
- aging [IUPAC Term]
- aging [MeSH concept]
- aging [MeSH Descriptor]
- aging [GO term]
- aging [CISMeF Querying Strategy]
- older adult health [MedlinePlus Topic]
- ras related dexamethasone induced 1 [HGNC gene]
- symbol withdrawn AGS1 [HGNC gene]
Broader ORDO disease(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome [Disease (Nov.)]
- Aicardi Goutieres syndrome type 1 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres Syndrome 1 [NCIt concept]
- Aicardi-Goutieres syndrome [DO Concept]
- Aicardi-Goutieres syndrome [MeSH concept]
- Aicardi-Goutieres syndrome [MedDRA Preferred Term]
- Aicardi-Goutieres syndrome [MeSH Supplementary Concept]
- Aicardi-Goutières syndrome [ORDO Disease]
- Aicardi-Goutières syndrome [ICD-11 More detail]
- Aicardi-Goutières syndrome type 1 [ICD-11 More detail]
DO Cross reference
- Aicardi-Goutieres syndrome [DO Concept]
False automatic mappings
- Alanylglutamine [NCIt concept]
- Algeria [NCIt concept]
- Antigua and Barbuda [NCIt concept]
- Attogram [NCIt concept]
Genes related to phenotype
- 3-prime repair exonuclease 1 [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Absent speech [HPO term]
- Acrocyanosis [HPO term]
- Antiphospholipid antibody positivity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- CNS demyelination [HPO term]
- CSF lymphocytic pleiocytosis [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar calcifications [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral atrophy, progressive [HPO term]
- Chilblains [HPO term]
- Chronic CSF lymphocytosis [HPO term]
- Deep white matter hypodensities [HPO term]
- Diabetes insipidus [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Erythema [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fever [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypothyroidism [HPO term]
- Inability to walk [HPO term]
- Increased CSF interferon alpha [HPO term]
- Intellectual disability, profound [HPO term]
- Intracerebral periventricular calcifications [HPO term]
- Leukoencephalopathy [HPO term]
- Microcephaly [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Multiple gastric polyps [HPO term]
- Nystagmus [HPO term]
- Petechiae [HPO term]
- Poor head control [HPO term]
- Progressive encephalopathy [HPO term]
- Progressive microcephaly [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Purpura [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive chorioretinopathy-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres Syndrome 1 [NCIt concept]
- Aicardi-Goutieres syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Aicardi Goutieres syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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