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Aicardi-Goutieres syndrome
rareAicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
- Identifiers
- MONDO:0018866 Orphanet:51
- Part of
- Autosomal recessive diseaseHereditary disorder of connective tissueInborn error of immunityLeukodystrophyType 1 interferonopathy of childhood
- Also known as
- AGS · Aicardi Goutieres syndrome · Aicardi-Goutières Syndrome · Cree encephalitis · encephalopathy with basal ganglia calcification
Subtypes
Disease Rare Not rare Subtypes
- Aicardi-Goutieres syndrome 1 MONDO:0009165 1
- Aicardi-Goutieres syndrome 2 MONDO:0012429
- Aicardi-Goutieres syndrome 3 MONDO:0012471
- Aicardi-Goutieres syndrome 4 MONDO:0012472
- Aicardi-Goutieres syndrome 5 MONDO:0013059
- Aicardi-Goutieres syndrome 6 MONDO:0014007
- Aicardi-Goutieres syndrome 7 MONDO:0014367
- Aicardi-Goutieres syndrome 8 MONDO:0030361
- Aicardi-Goutieres syndrome 9 MONDO:0030362
- Basal ganglia calcification, idiopathic, childhood-onset MONDO:0007247
Projects
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