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.