Details of Disease | DrugMAP

General Information of Disease (ID: DISORHM4)

Disease Name	Chromosome 6q24-q25 deletion syndrome
Synonyms	deletion 6q25; del(6q25); chromosome 6q25 microdeletion syndrome; monosomy 6q25; chromosome 6q25-q25 deletion syndrome; chromosome 6q24-q25 deletion syndrome; Del(6)(q25); 6q25 microdeletion syndrome
Definition	6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Disease Hierarchy	DIS1DD8C: Syndrome caused by partial chromosomal deletion DIS2O9FK: Partial deletion of the long arm of chromosome 6 DISORHM4: Chromosome 6q24-q25 deletion syndrome
Disease Identifiers	MONDO ID MONDO_0013025 UMLS CUI C3150215 OMIM ID 612863 MedGen ID 461565 Orphanet ID 251056

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
ARID1B	OTILK3Q7	Strong	ChromosomalRearrangement	[1]
TAB2	OTPZK76F	Definitive	Autosomal dominant	[2]
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References

1	Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.
2	Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub 2010 May 20.