Details of Disease

General Information of Disease (ID: DISY3CG8)

Disease Name Hyperekplexia
Definition A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia
Disease Hierarchy
DISOJJ2D: Movement disorder
DISY3CG8: Hyperekplexia
Disease Identifiers
MONDO ID
MONDO_0017658
MESH ID
D000071017
UMLS CUI
C0234166
MedGen ID
488800
Orphanet ID
306773
SNOMED CT ID
19557000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC7A10 DTVL2JY Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARHGEF9 OTB1FLIW Disputed Biomarker [2]
GARS1 OT5B6R9Y moderate Biomarker [3]
GPHN OTAKK1SV Strong Biomarker [4]
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References

1 The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.Sci Rep. 2016 Oct 19;6:35592. doi: 10.1038/srep35592.
2 The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.J Neurol. 2017 Jul;264(7):1421-1425. doi: 10.1007/s00415-017-8539-3. Epub 2017 Jun 15.
3 A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.J Neurosci. 2018 Mar 14;38(11):2818-2831. doi: 10.1523/JNEUROSCI.0674-16.2018. Epub 2018 Feb 13.
4 Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.Neuropediatrics. 2005 Dec;36(6):389-94. doi: 10.1055/s-2005-872877.