National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Aicardi-Goutieres syndrome

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Other Names:
AGS; Aicardi Goutieres syndrome; Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis; AGS; Aicardi Goutieres syndrome; Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis; Pseudotoxoplasmosis syndrome; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; CREE ENCEPHALITIS; Encephalopathy with basal ganglia calcification See More
Categories:
This disease is grouped under:
Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin.[1] Loss of white matter in the brain (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain leads to an early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability.[2]  Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint and muscle stiffness (spasticity), involuntary muscle twisting and contractions (dystonia), and weak muscle tone (hypotonia) in the torso.[1] Other signs and symptoms may include a very small head (microcephaly), presence of white blood cells and other sign of inflammation in the  cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). Symptoms usually progress over several months before the disease course stabilizes.[3] 

There are several types of Aicardi-Goutieres syndrome, depending on the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR and IFIH1, genes.[4] Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.[3] The prognosis depends mainly on the severity neurologic problems and in the age of onset of these problems.[1][2]



Last updated: 12/26/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 86 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arrhinencephaly 0002139
Global developmental delay 0001263
Intellectual disability, profound
IQ less than 20
0002187
Multifocal cerebral white matter abnormalities 0007052
Porencephalic cyst
Cavity within brain
0002132
30%-79% of people have these symptoms
Autoimmunity
Autoimmune disease
Autoimmune disorder
[ more ] 		0002960
Brain atrophy
Brain degeneration
Brain wasting
[ more ] 		0012444
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Chilblains 0009710
Chronic CSF lymphocytosis 0009704
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Difficulty walking
Difficulty in walking
0002355
Dry skin 0000958
Dystonia 0001332
Elevated hepatic transaminase
High liver enzymes
0002910
Extrapyramidal muscular rigidity 0007076
Eyelid coloboma
Cleft eyelid
Notched eyelid
[ more ] 		0000625
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Increased CSF interferon alpha 0009709
Increased serum interferon-gamma level 0030356
Irritability
Irritable
0000737
Large beaked nose 0003683
Leukodystrophy 0002415
Loss of speech 0002371
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Unexplained fevers 0001955
Ventriculomegaly 0002119
5%-29% of people have these symptoms
Abnormal pyramidal sign 0007256
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Arthritis
Joint inflammation
0001369
Cardiomegaly
Enlarged heart
Increased heart size
[ more ] 		0001640
Cutis marmorata 0000965
Demyelinating peripheral neuropathy 0007108
Developmental glaucoma 0001087
Diabetes mellitus 0000819
Headache
Headaches
0002315
Hepatomegaly
Enlarged liver
0002240
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Hypothyroidism
Underactive thyroid
0000821
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Micropenis
Short penis
Small penis
[ more ] 		0000054
Multiple joint contractures 0002828
Muscle stiffness 0003552
Neonatal alloimmune thrombocytopenia 0004809
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Panniculitis
Inflammation of fat tissue
0012490
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] 		0001357
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Ptosis
Drooping upper eyelid
0000508
Raynaud phenomenon 0030880
Scoliosis 0002650
Spastic paraparesis 0002313
Spastic tetraplegia 0002510
Splenomegaly
Increased spleen size
0001744
Tremor 0001337
1%-4% of people have these symptoms
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart
0004942
Calcification of the aorta 0004963
Chronic lymphatic leukemia 0005550
Degeneration of the striatum 0040140
Enchondroma 0030038
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Lipoatrophy
Loss of fat tissue in localized area
0100578
Moyamoya phenomenon 0011834
Myositis
Muscle inflammation
0100614
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function 0002071
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Cerebral atrophy
Degeneration of cerebrum
0002059
Deep white matter hypodensities 0007321
Feeding difficulties in infancy 0008872
Fever 0001945
Leukoencephalopathy 0002352
Morphological abnormality of the pyramidal tract 0002062
Multiple gastric polyps 0004394
Petechiae 0000967
Poor head control 0002421
Progressive encephalopathy 0002448
Progressive microcephaly
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] 		0000253
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Thrombocytopenia
Low platelet count
0001873
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Aicardi-Goutieres syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Aicardi-Goutieres syndrome:
    Myelin Disorders Bioregistry Project
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Aicardi-Goutieres syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aicardi-Goutieres syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Aicardi-Goutieres syndrome. Genetics Home Reference (GHR). 2017; http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome.
  2. Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières Syndrome. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK1475/.
  3. Aicardi-Goutieres Syndrome. United Leukodystrophy Foundation. http://ulf.org/aicardi-goutieres-syndrome.
  4. Ada Hamosh. AICARDI-GOUTIERES SYNDROME 1. Online Mendelian Inheritance in Man (OMIM). 01/09/2016; http://omim.org/entry/225750.