Details of Disease | DrugMAP

General Information of Disease (ID: DISM9N8Y)

Disease Name	Pseudo-TORCH syndrome
Synonyms	Baraitser Brett Piesowicz syndrome; BLCPMG; congenital intrauterine infection-like syndrome; microcephaly - intracranial calcification - intellectual disability; microcephaly intracranial calcification; pseudo-TORCH syndrome; Baraitser-Reardon syndrome; bilateral band-like calcification with polymicrogyria; microcephaly-intracranial calcification-intellectual disability syndrome; BLC-PMG; Baraitser-Brett-Piesowicz syndrome; band-like calcification with simplified gyration and polymicrogyria
Definition	A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISM9N8Y: Pseudo-TORCH syndrome
Disease Identifiers	MONDO ID MONDO_0009626 MESH ID C535607 UMLS CUI C3489725 MedGen ID 483678 Orphanet ID 1229

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAMHD1	OTBCIBC7	Limited	Biomarker	[1]
OCLN	OTSUTVWL	Supportive	Autosomal recessive	[2]
ADAR	OTQNOHR8	Strong	Biomarker	[3]
IFIH1	OTZA2AHA	Strong	Biomarker	[4]
TREX1	OTQG7K12	Definitive	Biomarker	[5]
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References

1	Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.J Biol Chem. 2013 Mar 22;288(12):8101-8110. doi: 10.1074/jbc.M112.431148. Epub 2013 Jan 30.
2	Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19.
3	Mutations in ADAR1 cause Aicardi-Goutires syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.
4	Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.
5	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutires syndrome at the AGS1 locus. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16.