Details of Disease | DrugMAP

General Information of Disease (ID: DISAT096)

Disease Name	Intellectual disability, autosomal dominant 46
Synonyms	MRD46; autosomal dominant intellectual disability 46; mental retardation, autosomal dominant 46; autosomal dominant mental retardation 46; intellectual disability, autosomal dominant 46
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISAT096: Intellectual disability, autosomal dominant 46
Disease Identifiers	MONDO ID MONDO_0030911 UMLS CUI C4539851 OMIM ID 617601 MedGen ID 1618560

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ5	TTWVL5Q	Strong	Autosomal dominant	[1]
KCNQ5	TTWVL5Q	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNQ5	OTMED202	Strong	Autosomal dominant	[1]
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References

1	Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.
2	Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22.