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Pseudo-TORCH-Syndrom 1

Das Pseudo-TORCH-Syndrom 1 ist eine schwere autoinflammatorische Erkrankung, die durch autosomal rezessive Mutationen im OCLN-Gen hervorgerufen wird. Die Erkrankung beginn meist antenatal und führt im Kleinkindesalter zum Tode. Zu den Symptomen gehören intrakranielle Blutungen, Kalzifikationen, Hirnfehlbildungen, Leberfunktionsstörungen und oft auch eine Thrombozytopenie.

Epidemiologie

Die Prävalenz aller Pseudo-TORCH-Syndrome liegt unter 1:1.000.000.

Gliederung

Pseudo-TORCH-Syndrom
Pseudo-TORCH-Syndrom 1
OCLN
Pseudo-TORCH-Syndrom 2

Referenzen:

1.

Briggs TA et al. (2008) Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

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2.

O'Driscoll MC et al. (2010) Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

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3.

Crow YJ et al. (2000) Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

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4.

Crow YJ et al. (2003) Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

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5.

Burn J et al. (1986) A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection.

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6.

Baraitser M et al. (1983) Microcephaly and intracranial calcification in two brothers.

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7.

Reardon W et al. (1994) Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

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8.

Monastiri K et al. (1997) Microcephaly and intracranial calcification: two new cases.

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9.

Slee J et al. (1999) Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.

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10.

Abdel-Salam GM et al. (2008) Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

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11.

Abdel-Salam GM et al. (2009) Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes.

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12.

LeBlanc MA et al. (2013) A novel rearrangement of occludin causes brain calcification and renal dysfunction.

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Update: 14. August 2020
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