Details of Disease

General Information of Disease (ID: DIS91ZQD)

• Disease Name: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
• Synonyms: epilepsy, X-linked, with variable learning disabilities and behavior disorders; epilepsy, X-linked, with variable learning disabilities and behaviour disorders; epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant; X-linked epilepsy-learning disabilities-behavior disorders syndrome; epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant
• Definition: An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISQD6JG: Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
  DIS91ZQD: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
• Disease Identifiers:
  MONDO ID: MONDO_0010339
  UMLS CUI: C5774177
  OMIM ID: 300491
  MedGen ID: 1823951
  Orphanet ID: 85294

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
SYN1	OTMNPWC1	Strong	X-linked recessive	[1]

References

• [1] 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.