Details of Disease

General Information of Disease (ID: DIS3TXG8)

• Disease Name: Inherited Creutzfeldt-Jakob disease
• Synonyms: Creutzfeldt-Jakob disease, familial; Creutzfeldt-Jakob disease; Creutzfeldt-Jakob disease, sporadic; CJD; Creutzfeldt-Jakob disease, Heidenhain variant; Creutzfeldt-Jakob disease, variant; Creutzfeldt-Jakob disease, variant, resistance to; inherited CJD; hereditary Creutzfeldt Jacob disease
• Definition: Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
• Disease Hierarchy:
  DISCB6RX: Creutzfeldt Jacob disease
  DISPN7D2: Inherited neurodegenerative disorder
  DISOJJ2D: Movement disorder
  DIS3TXG8: Inherited Creutzfeldt-Jakob disease
• Disease Identifiers:
  MONDO ID: MONDO_0007403
  MESH ID: D007562
  UMLS CUI: C0751254
  MedGen ID: 155837
  Orphanet ID: 282166
  SNOMED CT ID: 715807002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSNK2A2	TT7GR5W	Strong	Biomarker	[1]
PRNP	TTY5F9C	Strong	Genetic Variation	[2]
TUBB2A	TTJ2PTI	Strong	Biomarker	[3]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALDH1A1	DE2JP1Y	Strong	Biomarker	[3]
SRD5A3	DEZGVDW	Strong	Biomarker	[3]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATF6	OTAFHAVI	Strong	Biomarker	[3]
CPED1	OTJJPZOZ	Strong	Biomarker	[3]
KLRC2	OTT4N86S	Strong	Biomarker	[3]
KRT73	OTCBXTAJ	Strong	Biomarker	[3]
PRNP	OTE85L1Q	Strong	Autosomal dominant	[4]

References

• [1] Different expression patterns of CK2 subunits in the brains of experimental animals and patients with transmissible spongiform encephalopathies.Arch Virol. 2008;153(6):1013-20. doi: 10.1007/s00705-008-0084-z. Epub 2008 Apr 11.
• [2] Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.J Clin Neurosci. 2019 Jun;64:47-49. doi: 10.1016/j.jocn.2019.03.019. Epub 2019 Mar 22.
• [3] Snord 3A: a molecular marker and modulator of prion disease progression.PLoS One. 2013;8(1):e54433. doi: 10.1371/journal.pone.0054433. Epub 2013 Jan 21.
• [4] 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.