Details of Disease | DrugMAP

General Information of Disease (ID: DIS3SJ9R)

Disease Name	Chromosome 2q32-q33 deletion syndrome
Synonyms	SAS; SATB2 syndrome; 2q32q33 microdeletion syndromes; glass; SATB2-associated syndrome; monosomy 2q32; 2q32-q33 microdeletion syndrome; glass syndrome; chromosome 2q32-q33 deletion syndrome; monosomy 2q32-q33; Del(2)(q32); Del(2)(q32q33); monosomy 2q32q33; 2q32q33 microdeletion syndrome
Definition	2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
Disease Hierarchy	DIS1DD8C: Syndrome caused by partial chromosomal deletion DISAVFKY: SATB2 associated disorder DISUP4LN: Partial deletion of the long arm of chromosome 2 DIS3SJ9R: Chromosome 2q32-q33 deletion syndrome
Disease Identifiers	MONDO ID MONDO_0012864 MESH ID C567350 UMLS CUI C2676739 OMIM ID 612313 MedGen ID 436765 Orphanet ID 251019

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
SATB2	OT2W80XC	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.