Aicardi-goutieres Syndrome 7; Ags7

Description

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 ) 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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Aicardi-goutieres Syndrome 7; Ags7

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Spasticity
  • Feeding difficulties
  • Hepatomegaly
  • Intrauterine growth retardation

And another 33 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including neonatal onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Aicardi-goutieres Syndrome 7; Ags7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
IFIH1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

IFIH1
Specificity
100 %
Genes
100 %
Aicardi-Goutieres syndrome (NGS panel for 7 genes).

By CGC Genetics (Portugal).

TREX1, SAMHD1, RNASEH2A, IFIH1, ADAR, RNASEH2C, RNASEH2B
Specificity
15 %
Genes
100 %
Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TREX1, SAMHD1, RNASEH2A, IFIH1, ADAR, RNASEH2C, RNASEH2B
Specificity
15 %
Genes
100 %
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via IFIH1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

IFIH1
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Aicardi-Goutieres Syndrome NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) (United States).

TREX1, SAMHD1, RNASEH2A, IFIH1, ADAR, RNASEH2C, RNASEH2B
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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