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Disease Profile

Infection-induced acute encephalopathy 3

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

#N/A

ICD-10

#N/A

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Familial acute necrotizing encephalopathy; ADANE; Recurrent acute necrotizing encephalopathy;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Infection-induced acute encephalopathy 3 (IIAE3) is the susceptibility to recurrent acute necrotizing encephalopathy (ANE). ANE refers to the brain lesions that develop within days following the onset of an acute viral illness caused by influenza A, influenza Bparainfluenza II, human herpes virus 6, coxsackie virus, or an enterovirus.[1] Although most cases occurs before six years of age, first episodes have been observed in teenagers and adults. ANE begins within 12 hours to three or four days of the first viral symptoms. Symptoms include fever, cough, congestion, vomiting, and diarrhea in the first few days, followed by neurological problems, such as seizures, hallucinations, difficulty coordinating movements (ataxia), or abnormal muscle tone.[1][2] Most affected individuals go into a coma, which usually lasts for a number of weeks. The condition is described as "acute" because the episodes of illness are time-limited. It is caused by mutations in the RANBP2 gene. Inheritance is autosomal dominant. In many cases, treatment involves corticosteroids, as well as immunoglobulin therapy, plasmapheresis, and TNFα antagonists. In some cases, treatment is not required.[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
Acute encephalopathy
0006846
Coma
0001259
Increased CSF protein
0002922
30%-79% of people have these symptoms
Abnormal brainstem MRI signal intensity
0012747
Abnormal pattern of respiration
Abnormal respiratory patterns
Unusual breathing patterns

[ more ]

0002793
Abnormal putamen morphology
0031982
Abnormal visual fixation
0025404
Abnormality of thalamus morphology
0010663
Cerebral edema
Swelling of brain
0002181
Choroid hemorrhage
0011887
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Dysarthria
Difficulty articulating speech
0001260
Fever
0001945
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Generalized muscle weakness
0003324
Gliosis
0002171
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Rigidity
Muscle rigidity
0002063
Seizure
0001250
Spastic tetraplegia
0002510
Vomiting
Throwing up
0002013
5%-29% of people have these symptoms
Tetraplegia
Paralysis of all four limbs
0002445
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Encephalopathy
0001298
Hypertonia
0001276
Incomplete penetrance
0003829
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Pneumonia
0002090

Organizations

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

    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.

    In-Depth Information

    • 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. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

      References

      1. Neilson D. Susceptibility to Infection-Induced Acute Encephalopathy 3. GeneReviews. December 4, 2014; https://www.ncbi.nlm.nih.gov/books/NBK258641/.
      2. Acute necrotizing encephalopathy type 1. Genetics Home Reference. July, 2016; https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1.