Details of Disease | DrugMAP

General Information of Disease (ID: DISDL1V1)

Disease Name	Hyperekplexia 3
Synonyms	hyperekplexia type 3; HKPX3; hyperekplexia 3; hereditary hyperekplexia caused by mutation in SLC6A5; SLC6A5 hereditary hyperekplexia
Definition	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
Disease Hierarchy	DIS9YXFE: Hereditary hyperekplexia DISDL1V1: Hyperekplexia 3
Disease Identifiers	MONDO ID MONDO_0013827 UMLS CUI C3553288 OMIM ID 614618 MedGen ID 766202

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
SLC6A5	TTI0138	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A5	DTE8R17	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC6A5	OTKYC433	Strong	Autosomal recessive	[2]
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References

1	The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.Eur J Neurosci. 2019 Dec;50(12):3906-3920. doi: 10.1111/ejn.14533. Epub 2019 Sep 5.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.