Details of Disease | DrugMAP

General Information of Disease (ID: DIS1DHP9)

Disease Name	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
Synonyms	Mental Retardation, X-Linked, With Marfanoid Habitus, 2; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD; intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS1DHP9: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
Disease Identifiers	MONDO ID MONDO_0026733 UMLS CUI C5393302 OMIM ID 301039 MedGen ID 1716269

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
NKAP	OT7K7I8Q	Strong	X-linked	[1]
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References

1	Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3.