Details of Disease | DrugMAP

General Information of Disease (ID: DISABKQO)

Disease Name	Pseudo-TORCH syndrome 1
Synonyms	pseudo-TORCH syndrome; PTORCH1; pseudo-TORCH syndrome type 1; pseudo-TORCH syndrome 1
Disease Hierarchy	DISM9N8Y: Pseudo-TORCH syndrome DISABKQO: Pseudo-TORCH syndrome 1
Disease Identifiers	MONDO ID MONDO_0020789 UMLS CUI C4552078 OMIM ID 251290 MedGen ID 1639355

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OCLN	OTSUTVWL	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	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.