Details of Disease | DrugMAP

General Information of Disease (ID: DISFVO8G)

Disease Name	DYRK1A-related intellectual disability syndrome
Synonyms	autosomal dominant non-syndromic intellectual disability 7; mental retardation, autosomal dominant 7; intellectual disability, autosomal dominant 7; MRD7; intellectual disability, autosomal dominant type 7; autosomal dominant mental retardation 7; mental retardation, autosomal dominant type 7; autosomal dominant intellectual disability 7
Definition	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DIS1I87P: Intellectual disability, autosomal dominant DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISFVO8G: DYRK1A-related intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0013578 UMLS CUI C5568143 OMIM ID 614104 MedGen ID 1799566 Orphanet ID 464306 SNOMED CT ID 1179301003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYRK1A	TTSBVFO	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DYRK1A	OTPLXCDN	Definitive	Autosomal dominant	[1]
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References

1	Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet. 2011 Mar;79(3):296-9. doi: 10.1111/j.1399-0004.2010.01544.x.