Details of Disease

General Information of Disease (ID: DISWF5BV)

• Disease Name: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
• Synonyms: ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant; CLN8 disease, late infantile (subtype); epilepsy, progressive, with mental retardation; ceroid lipofuscinosis neuronal 8; progressive epilepsy - intellectual disability, Finnish type; neuronal ceroid lipofuscinosis 8; CLN8 disease, EPMR (subtype); CLN8; epilepsy mental deterioration Finnish type; epilepsy, progressive, with intellectual disability; progressive epilepsy with mental retardation, northern epilepsy; progressive epilepsy with intellectual disability, northern epilepsy; progressive myoclonic epilepsy with neuroserpin inclusion bodies; progressive epilepsy-intellectual disability syndrome, Finnish type; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; early onset familial encephalopathy with neuroserpin inclusion bodies; NCL, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Northern epilepsy; EPMR; neuronal ceroid lipofuscinosis, Northern epilepsy variant
• Definition: Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
• Disease Hierarchy:
  DISPGGVL: Syndromic dyslipidemia
  DISGNC07: Neuronal ceroid lipofuscinosis 8
  DISAMCNS: Progressive myoclonus epilepsy
  DIS80GDF: Monogenic epilepsy
  DISWF5BV: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
• Disease Identifiers:
  MONDO ID: MONDO_0012391
  MESH ID: C537952
  UMLS CUI: C1864923
  OMIM ID: 610003
  MedGen ID: 355328
  Orphanet ID: 1947
  SNOMED CT ID: 703526007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NCL	TTK1V5Q	Definitive	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLN5	OTY265P6	Strong	Biomarker	[2]
CLN8	OT0D4CB5	Strong	Autosomal recessive	[3]

References

• [1] Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.Eur J Paediatr Neurol. 2001;5 Suppl A:21-7. doi: 10.1053/ejpn.2000.0429.
• [2] Studies of homogenous populations: CLN5 and CLN8.Adv Genet. 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.