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Aicardi-Goutieres syndrome 5

Summary

Excerpted from the GeneReview: Aicardi-Goutières Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Yanick J Crow
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Available tests

60 tests are in the database for this condition.

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Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1, SAMHD1
    Summary: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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