Details of Disease

General Information of Disease (ID: DISJ9283)

Disease Name Hyperekplexia 2
Synonyms hereditary hyperekplexia caused by mutation in GLRB; HKPX2; hyperekplexia 2; hyperekplexia type 2; GLRB hereditary hyperekplexia
Definition Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.
Disease Hierarchy
DIS9YXFE: Hereditary hyperekplexia
DISJ9283: Hyperekplexia 2
Disease Identifiers
MONDO ID
MONDO_0013828
UMLS CUI
C3553291
OMIM ID
614619
MedGen ID
766205

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
GLRA1 TTF45NW Limited Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GLRB OTF37UG4 Definitive Autosomal recessive [2]
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References

1 Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.Ann Neurol. 1999 Oct;46(4):634-8. doi: 10.1002/1531-8249(199910)46:4<634::aid-ana12>3.0.co;2-9.
2 Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene. BMJ Case Rep. 2020 Dec 15;13(12):e236152. doi: 10.1136/bcr-2020-236152.