Details of Disease | DrugMAP

General Information of Disease (ID: DISQ9X80)

Disease Name	Intellectual disability, autosomal dominant 47
Synonyms	autosomal dominant intellectual disability 47; MRD47; mental retardation, autosomal dominant 47; autosomal dominant mental retardation 47; STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome; intellectual disability, autosomal dominant 47
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD6L06: Autosomal dominant non-syndromic intellectual disability DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISQ9X80: Intellectual disability, autosomal dominant 47
Disease Identifiers	MONDO ID MONDO_0030912 UMLS CUI C4539951 OMIM ID 617635 MedGen ID 1622196 Orphanet ID 502434

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
STAG1	OT564IX4	Strong	Autosomal dominant	[1]
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References

1	STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24.