KEGG DISEASE: Pseudo-TORCH syndrome

KEGG

DISEASE: Pseudo-TORCH syndrome

Entry

H00840                      Disease

Name

Pseudo-TORCH syndrome

Subgroup

Band-like calcification with simplified gyration and polymicrogyria

Description

Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually seen when congenital infection occurs (TORCH syndrome), but no infectious agents are detected in BLC-PMG (pseudo-TORCH syndrome). Affected individuals show early-onset seizures and severe microcephaly.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00840  Pseudo-TORCH syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06518  JAK-STAT signaling
   H00840  Pseudo-TORCH syndrome

Pathway

JAK-STAT signaling pathway

Network

nt06518 JAK-STAT signaling

Gene

(PTORCH1) OCLN [HSA:100506658] [KO:K06088]
(PTORCH2) USP18 [HSA:11274] [KO:K11846]
(PTORCH3) STAT2 [HSA:6773] [KO:K11221]

Other DBs

ICD-11:

OMIM:

251290 617397 618886

Reference

Authors

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ

Title

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Journal

Am J Med Genet A 146A:3173-80 (2008)
DOI:10.1002/ajmg.a.32614

Reference

PMID:20727516 (PTORCH1)

Authors

O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ

Title

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Journal

Am J Hum Genet 87:354-64 (2010)
DOI:10.1016/j.ajhg.2010.07.012

Reference

PMID:27325888 (PTORCH2)

Authors

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM

Title

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Journal

J Exp Med 213:1163-74 (2016)
DOI:10.1084/jem.20151529

Reference

PMID:31836668 (PTORCH3)

Authors

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA

Title

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Journal

Sci Immunol 4:eaav7501 (2019)
DOI:10.1126/sciimmunol.aav7501

LinkDB

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