AGS3
MCID: ACR088
MIFTS: 39
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Aicardi-Goutieres Syndrome 3 (AGS3)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Aicardi-Goutieres Syndrome 3:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in early infancy one patient with normal psychomotor development has been reported HPO:31
aicardi-goutieres syndrome 3:
Inheritance autosomal recessive inheritance Onset and clinical course progressive death in childhood Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases |
OMIM® :
57
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) (Updated 05-Mar-2021)
MalaCards based summary : Aicardi-Goutieres Syndrome 3, also known as aicardi goutieres syndrome 3, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 2, 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 eye, brain and kidney, and related phenotypes are spasticity and hyperreflexia UniProtKB/Swiss-Prot : 73 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 3:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:610329 (Updated 05-Mar-2021)UMLS 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:26
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MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 3:40
Eye,
Brain,
Kidney,
Cortex,
Heart,
Lung,
Prostate
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Articles related to Aicardi-Goutieres Syndrome 3:(show top 50) (show all 109)
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ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 3:6 (show top 50) (show all 93)
UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 3:73
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Search
GEO
for disease gene expression data for Aicardi-Goutieres Syndrome 3.
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