Details of Disease | DrugMAP

General Information of Disease (ID: DISAL5LL)

Disease Name	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Synonyms	GLOW; global developmental delay, lung cysts, overgrowth, and wilms tumor; GLOW syndrome, somatic mosaic; glow syndrome; global developmental delay, lung cysts, overgrowth, and wilms tumour
Disease Hierarchy	DISYKSRF: Genetic disease DISHK54G: Overgrowth syndrome DISAL5LL: Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Disease Identifiers	MONDO ID MONDO_0018445 UMLS CUI C4748924 OMIM ID 618272 MedGen ID 1648360 Orphanet ID 404476 SNOMED CT ID 782722002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DICER1	TTTEOPU	Limited	Unknown	[1]
DICER1	TTTEOPU	Strong	SomaticCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DICER1	OTTVSEY0	Limited	Unknown	[1]
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References

1	Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014 May;51(5):294-302. doi: 10.1136/jmedgenet-2013-101943. Epub 2014 Mar 27.