Details of Disease | DrugMAP

General Information of Disease (ID: DIS9YXFE)

Disease Name	Hereditary hyperekplexia
Synonyms	hyperexplexia hereditary; hyperekplexia; startle disease; hereditary hyperekplexia; congenital stiff man syndrome; hereditary hyperexplexia; familial startle disease; Kok disease; Stiff baby syndrome
Definition	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
Disease Hierarchy	DISY3CG8: Hyperekplexia DISR7E1C: Metabolic disease involving other neurotransmitter deficiency DISD715V: Hereditary neurological disease DIS9YXFE: Hereditary hyperekplexia
Disease Identifiers	MONDO ID MONDO_0021022 MESH ID C538136 UMLS CUI C1835614 MedGen ID 332019 Orphanet ID 3197 SNOMED CT ID 724351008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLRA1	TTF45NW	Supportive	Autosomal dominant	[1]
GLRA1	TTF45NW	Strong	Genetic Variation	[2]
SLC6A5	TTI0138	Strong	Biomarker	[3]
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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	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATAD1	OTJ02XFL	Supportive	Autosomal dominant	[4]
GLRA1	OT05Y9ZR	Supportive	Autosomal dominant	[1]
GLRB	OTF37UG4	Supportive	Autosomal dominant	[1]
GPHN	OTAKK1SV	Supportive	Autosomal dominant	[1]
SLC6A5	OTKYC433	Supportive	Autosomal dominant	[1]
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References

1	Hereditary Hyperekplexia Overview. 2007 Jul 31 [updated 2019 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.Ann Clin Transl Neurol. 2019 Sep;6(9):1900-1904. doi: 10.1002/acn3.50866. Epub 2019 Aug 7.
3	Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.J Biol Chem. 2015 Jan 23;290(4):2150-65. doi: 10.1074/jbc.M114.587055. Epub 2014 Dec 5.
4	A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. Brain. 2018 Mar 1;141(3):651-661. doi: 10.1093/brain/awx377.