Details of Disease | DrugMAP

General Information of Disease (ID: DISI3CFH)

Disease Name	8q24.3 microdeletion syndrome
Synonyms	chromosome 8Q24.3 deletion syndrome; VRJS; Verheij syndrome
Disease Hierarchy	DIS1DD8C: Syndrome caused by partial chromosomal deletion DISMT2VZ: Cardiogenetic disease DISB3PDJ: Partial deletion of the long arm of chromosome 8 DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISI3CFH: 8q24.3 microdeletion syndrome
Disease Identifiers	MONDO ID MONDO_0014263 UMLS CUI C3810023 OMIM ID 615583 MedGen ID 816353 Orphanet ID 508488 SNOMED CT ID 1229895008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCRIB	OTW4N3FV	Strong	Genetic Variation	[1]
PUF60	OTG90DYF	Definitive	Autosomal dominant	[2]
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References

1	PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23.
2	Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30.