Details of Disease

General Information of Disease (ID: DISN5P3O)

• Disease Name: Severe neonatal-onset encephalopathy with microcephaly
• Synonyms: encephalopathy, neonatal severe, due to MECP2 mutations; severe neonatal encephalopathy due to MECP2 mutations; encephalopathy, neonatal severe, X-linked recessive; severe congenital encephalopathy due to MECP2 mutation
• Definition: An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISH73EI: Neonatal epilepsy syndrome
  DIS80GDF: Monogenic epilepsy
  DISP9UN3: Mendelian encephalopathy
  DISN5P3O: Severe neonatal-onset encephalopathy with microcephaly
• Disease Identifiers:
  MONDO ID: MONDO_0010397
  UMLS CUI: C1968556
  OMIM ID: 300673
  MedGen ID: 409616
  Orphanet ID: 209370
  SNOMED CT ID: 711487002

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
MECP2	TTTAU9R	Strong	Biomarker	[1]
MECP2	TTTAU9R	Definitive	X-linked	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MECP2	OTREZK68	Definitive	X-linked	[2]

References

• [1] Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.
• [2] MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171.