Details of Disease

General Information of Disease (ID: DIS5CD4T)

• Disease Name: Hyperekplexia 4
• Synonyms: HKPX4; hyperekplexia 4
• Definition: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).
• Disease Hierarchy:
  DIS9YXFE: Hereditary hyperekplexia
  DIS5CD4T: Hyperekplexia 4
• Disease Identifiers:
  MONDO ID: MONDO_0044330
  UMLS CUI: C4693933
  OMIM ID: 618011
  MedGen ID: 1642659

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATAD1	OTJ02XFL	Strong	Autosomal recessive	[1]

References

• [1] Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb.