Details of Disease | DrugMAP

General Information of Disease (ID: DISNSIB1)

Disease Name	Warburg micro syndrome 4
Synonyms	WARBURG micro syndrome 4; micro syndrome 4; TBC1D20 Warburg micro syndrome; Warburg micro syndrome 4; WARBM4; Warburg micro syndrome type 4; Warburg micro syndrome caused by mutation in TBC1D20
Definition	Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.
Disease Hierarchy	DISSEZ2V: Warburg micro syndrome DISNSIB1: Warburg micro syndrome 4
Disease Identifiers	MONDO ID MONDO_0014296 UMLS CUI C3810265 OMIM ID 615663 MedGen ID 816595

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
TBC1D20	OTDL1T6E	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.