Details of Disease

General Information of Disease (ID: DISRXUL0)

• Disease Name: Hyperekplexia 1
• Synonyms: startle disease, familial; Kok disease; Stiff-Person syndrome, congenital; Stiff-baby syndrome; hyperekplexia, hereditary 1; startle reaction, exaggerated; Sthe; Stiff-Man syndrome, congenital; exaggerated startle reaction; hyperekplexia type 1; hyperekplexia 1; hyperekplexia, hereditary type 1; HKPX1
• Definition: A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
• Disease Hierarchy:
  DIS9YXFE: Hereditary hyperekplexia
  DISRXUL0: Hyperekplexia 1
• Disease Identifiers:
  MONDO ID: MONDO_0007868
  UMLS CUI: C4551954
  OMIM ID: 149400
  MedGen ID: 1647581

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLRA1	TTF45NW	Strong	CausalMutation	[1]
GLRA1	TTF45NW	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A5	DTE8R17	Definitive	Autosomal recessive	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLRA1	OT05Y9ZR	Definitive	Autosomal recessive	[2]
SLC6A5	OTKYC433	Definitive	Autosomal recessive	[3]

References

• [1] Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis.Neurology. 2017 Jan 31;88(5):e38-e41. doi: 10.1212/WNL.0000000000003567.
• [2] C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report. Medicine (Baltimore). 2020 Apr;99(17):e19968. doi: 10.1097/MD.0000000000019968.
• [3] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.