AGS7
MCID: ACR084
MIFTS: 29
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Aicardi-Goutieres Syndrome 7 (AGS7)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Aicardi-Goutieres Syndrome 7:
Characteristics:OMIM:56
Miscellaneous:
incomplete penetrance variable severity onset in infancy or early childhood
Inheritance:
autosomal dominant HPO:31
aicardi-goutieres syndrome 7:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases |
OMIM :
56
Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; 147660) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (615846)
MalaCards based summary : Aicardi-Goutieres Syndrome 7, is also known as ags7. An important gene associated with Aicardi-Goutieres Syndrome 7 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include brain and eye, and related phenotypes are splenomegaly and hepatomegaly UniProtKB/Swiss-Prot : 73 Aicardi-Goutieres syndrome 7: 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. |
Diseases in the Aicardi-Goutieres Syndrome family: |
Human phenotypes related to Aicardi-Goutieres Syndrome 7:31 (show all 23)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615846 |
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MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 7:40
Brain,
Eye
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Articles related to Aicardi-Goutieres Syndrome 7:
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ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 7:6 (show top 50) (show all 189)
UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 7:73
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Search
GEO
for disease gene expression data for Aicardi-Goutieres Syndrome 7.
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