Pseudo-TORCH-Syndrom

Pseudo-TORCH syndrome is an autoinflammatory disorder which is caused by autosmal recessive mutations of the OCLN and USP18 genes. The disease starts antenatal and end lethal in infancy. Symptoms include intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and occasionally thrombocytopenia

Epidemiology

The prevalence of the whole group is less than 1:1,000,000.

Systematic

Autoinflammatory disease
	Autoinflammation with arthritis and dyskeratosis
	Autoinflammation, antibody deficiency, and immune dysregulation syndrome
	Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
	CARD14 associated psoriasis
	Chronic recurrent multifocal osteomyelitis
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	F12
	Familial cold autoinflammatory syndromes
	Hereditary pediatric Behçet-like disease
	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
	Inflammatory bowel disease
	Interleukin 10 deficiency
	Interleukin 10 receptor deficiency
	Interleukin-1 receptor antagonist deficiency
	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
	Proteasome-associated autoinflammatory syndrome
	Pseudo-TORCH-Syndrom
		Pseudo-TORCH syndrome 1
			OCLN
		Pseudo-TORCH syndrome 2
			USP18
	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
	SH3BP2 deficienc with multilocular cysticy disease of the mandibles
	STING-associated vasculopathy with onset in infancy
	Singleton-Merten syndrome
	Susceptibility to malignant hyperthermia 5
	Susceptibility to rheumatoid arthritis
	Systemic autoinflammatory disease
	Systemic-onset juvenile idiopathic arthritis
	TNF receptor-associated periodic syndrome

References:

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

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.

3.	Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

4.	Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

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

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

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

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

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

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

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

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

13.	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.

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

Update: Aug. 14, 2020

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