Rare Immunology News

Disease Profile

Aicardi-Goutieres syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

G31.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

AGS; Aicardi Goutieres syndrome; Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis;

Categories

Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;

Summary

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]

Symptoms

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.

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
Small head circumference
Reduced head circumference
Abnormally small skull
Decreased size of skull
Decreased circumference of cranium

[ 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
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
Antiphospholipid antibody positivity
0003613
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart
0004942

Learn more

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.

      References

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

      Rare Immunology News