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AGS3
MCID: ACR088
MIFTS: 37
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Aicardi-Goutieres Syndrome 3 (AGS3)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Aicardi-Goutieres Syndrome 3:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in early infancy one patient with normal psychomotor development has been reported HPO:33
aicardi-goutieres syndrome 3:
Clinical modifier death in childhood Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases Skin diseases |
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NIH Rare Diseases
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54
Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin. 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. 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. 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.
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. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive. The prognosis depends mainly on the severity neurologic problems and in the age of onset of these problems.
MalaCards based summary : Aicardi-Goutieres Syndrome 3, also known as ags3, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 1, and has symptoms including seizures, muscle spasticity and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome 3 is RNASEH2C (Ribonuclease H2 Subunit C). Affiliated tissues include brain, skin and spinal cord, and related phenotypes are nystagmus and spasticity OMIM : 58 Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (610329) UniProtKB/Swiss-Prot : 76 Aicardi-Goutieres syndrome 3: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. |
Human phenotypes related to Aicardi-Goutieres Syndrome 3:33 (show all 15)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:610329UMLS symptoms related to Aicardi-Goutieres Syndrome 3:seizures, muscle spasticity, petechiae of skin GenomeRNAi Phenotypes related to Aicardi-Goutieres Syndrome 3 according to GeneCards Suite gene sharing:27
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MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 3:42
Brain,
Skin,
Spinal Cord,
Eye,
Lung,
Heart,
Cortex
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Articles related to Aicardi-Goutieres Syndrome 3:(show all 42)
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Genes related to Aicardi-Goutieres Syndrome 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 3:76
ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 3:6 (show all 28)
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Search
GEO
for disease gene expression data for Aicardi-Goutieres Syndrome 3.
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