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1,012 Possible Causes for Aicardi Goutieres Syndrome

  • Singleton Merten Syndrome

    Most common symptoms of AICARDI-GOUTIÈRES SYNDROME Seizures Microcephaly Ptosis Spasticity Hypertonia More info about AICARDI-GOUTIÈRES SYNDROME SOURCES: ORPHANET UMLS Potential[] Other mutations in IFIH1 have been linked to AicardiGoutieres syndrome (AGS, MIM 615846), another disorder inherited in an autosomal dominant pattern, which is characterized[] Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nature Genet 44:1243–1248.[]

  • Aicardi's Syndrome

    シソーラス検索結果 同義語(異表記): Aicardi Goutieres syndrome Aicardi-Goutieres syndrome Aicardi-Goutieres Syndrome 1 Aicardi-Goutieres Syndrome 2 Cree Encephalitis Encephalopathy with Basal[] Aicardi-Goutieres syndrome type 6 AD, AR 16 IFIH1 606951 Aicardi-Goutieres syndrome 7 AD 16 RNASEH2A 606034 Aicardi-Goutieres syndrome type 4 AR 14 RNASEH2B 610326 Aicardi-Goutieres[] AGS Aicardi-Goutieres syndrome Aicardi Goutieres syndrome Cree encephalitis encephalopathy with basal ganglia calcification familial infantile encephalopathy with intracranial[]

  • Autosomal Recessive Primary Microcephaly Type 10

    SYNDROME 3; AGS3 Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development[] Dysostosis Adams-Oliver Syndrome Agenesis Of The Corpus Callosum With Peripheral Neuropathy Aicardi-Goutieres Syndrome 4 Aicardi Syndrome Amish Lethal Microcephaly Angiomatosis[] Thyroid Carcinoma RXRA TP53 Colorectal Neoplasms, Hereditary Nonpolyposis MSH2 TGFBR2 Congenital Abnormalities DLL3 NOTCH1 Urologic Neoplasms TP53 VEGFA Meningioma HES1 SMO Aicardi-Goutieres[]

  • Chilblain Lupus Erythematosus

    Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.[] Goutières F (2005) AicardiGoutières syndrome. Brain Dev 27:201–206 PubMed CrossRef Google Scholar 13.[] syndrome.[]

  • Chilblain

    Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus.[] KEYWORDS: AicardiGoutières syndrome; SAMHD1; TREX1; autoimmunity; chilblain; dominant-type; mosaicism[] Subsequent investigations suggested a clinical diagnosis of Aicardi-Goutières syndrome (AGS), a rare genetic leukoencephalopathy.[]

  • Waters-West Syndrome

    ; ATXPC High match AICARDI-GOUTIERES SYNDROME 7; AGS7 Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment[] syndrome 4 610333 RNASEH2B 13q14.3 Aicardi-Goutieres syndrome 2 610181 RNASEH2C 11q13.1 Aicardi-Goutieres syndrome 3 610329 RPGRIP1L 16q12.2 COACH syndrome 216360 Joubert[] Syndrome 1 1 Aicardi-Goutieres Syndrome 2 2 Aicardi-Goutieres Syndrome 3 2 Aicardi-Goutieres Syndrome 4 2 Aicardi-Goutieres Syndrome 5 2 Aicardi-Goutieres Syndrome 6 1 Aicardi-Goutieres[]

  • Viral Lower Respiratory Infection

    Additionally, rare gain-of-function mutations in IFIH1 dramatically up-regulate type I IFN production, resulting in AicardiGoutières syndrome or Singleton–Merten syndrome[]

  • Dyschromatosis symmetrica hereditaria

    Most common symptoms of AICARDI-GOUTIÈRES SYNDROME Seizures Microcephaly Ptosis Spasticity Hypertonia More info about AICARDI-GOUTIÈRES SYNDROME SOURCES: ORPHANET UMLS Potential[] Summary Dyschromatosis Symmetrica Hereditaria, also known as dyschromatosis symmetrica hereditaria 1,is related to dyschromatosis universalis hereditaria 3 and aicardi-goutieres[] […] based NGS panel for 74 genes) Primary Immunodeficiency (WES based NGS panel for 331 genes) Doenças estruturais dos gânglios basais (painel de NGS baseado em WES de 72 genes) Aicardi-Goutieres[]

  • Pseudo-Zellweger Syndrome

    Aicardi Goutieres Syndrome Aicardi-Goutières syndrome Alagille syndrome Albright syndrome Alpha thalassemia Alpha-1 antitrypsin deficiency Alpha-thalassemia syndrome X-linked[] Adrenoleukodystrophy Agammaglobulinemia Agenesis of the Corpus Callosum Aicardi-Goutieres Syndrome Alagille Syndrome Alpha-Antitrypsin Alpha-Thalassemia Alpha-Thalassemia[] X-linked adrenoleukodystrophy Zellweger syndrome spectrum disorders Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome is an autosomal recessive condition, presenting[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Syndrome 1 (TREX1) 1 Aicardi-Goutieres Syndrome 2 (RNASEH2B) 1 Aicardi-Goutieres Syndrome 3 (RNASEH2C) 1 Aicardi-Goutieres Syndrome 4 (RNASEH2A) 1 Aicardi-Goutieres Syndrome[] Aicardi-Goutières syndrome Aicardi-Goutières syndrome 1 Aicardi-Goutières syndrome 2 Aicardi-Goutières syndrome 3 Aicardi-Goutières syndrome 4 Aicardi-Goutières syndrome 5[] 5 (SAMHD1) 1 Aicardi-Goutieres Syndrome 6 (ADAR) 1 Aicardi-Goutieres Syndrome 7 (IFIH1) 1 Al-Raqad Syndrome (DCPS) 1 Albinism (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1,[]

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