Details of Disease

General Information of Disease (ID: DISCB6RX)

• Disease Name: Creutzfeldt Jacob disease
• Synonyms: Creutzfeldt-Jakob disease; CJD (Creutzfeldt Jakob disease); Creutzfeldt-Jacob disease; Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Subacute spongiform encephalopathy; Creutzfeldt Jakob Disease; Jakob-Creutzfeldt disease; transmissible virus dementia; CJD; classic Creutzfeldt-Jakob disease
• Definition: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.
• Disease Hierarchy:
  DISOUMB0: Prion disease
  DISCB6RX: Creutzfeldt Jacob disease
• Disease Identifiers:
  MONDO ID: MONDO_0005357
  MESH ID: D007562
  UMLS CUI: C0022336
  OMIM ID: 123400
  MedGen ID: 7179
  SNOMED CT ID: 792004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GFAP	TTI6FFX	Limited	Biomarker	[1]
ARF1	TT70KXY	Strong	Altered Expression	[2]
BACE1	TTJUNZF	Strong	Genetic Variation	[3]
GH1	TTT3YKH	Strong	Biomarker	[4]
LAMC2	TTNS7H3	Strong	Biomarker	[5]
RAB7A	TTF6WAQ	Strong	Biomarker	[6]
RAB9A	TT958S6	Strong	Biomarker	[6]
TUBB2A	TTJ2PTI	Strong	Biomarker	[7]
SNCA	TT08OSU	Definitive	Biomarker	[8]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALDH1A1	DE2JP1Y	Strong	Biomarker	[7]
SRD5A3	DEZGVDW	Strong	Biomarker	[7]

This Disease Is Related to 39 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMP5	OTC0Y6E0	Limited	Altered Expression	[9]
ENO2	OTRODL0T	Disputed	Altered Expression	[10]
AATF	OT1QOKLD	Strong	Biomarker	[11]
AHSP	OTTHBSUS	Strong	Biomarker	[12]
ALG1	OTVXPA9E	Strong	Biomarker	[13]
AMT	OTQYEWZQ	Strong	Biomarker	[14]
AQP4	OTA9MYD5	Strong	Biomarker	[15]
ATF6	OTAFHAVI	Strong	Biomarker	[7]
C4BPA	OTHNH6Y8	Strong	Genetic Variation	[16]
CARD14	OTADQHOV	Strong	Genetic Variation	[16]
CHGB	OT7SAQT2	Strong	Biomarker	[17]
CPED1	OTJJPZOZ	Strong	Biomarker	[7]
CST7	OTQWZUVQ	Strong	Altered Expression	[18]
DHX16	OTW8KZAU	Strong	Biomarker	[19]
HECTD2	OTDIBGQV	Strong	Biomarker	[20]
KLRC2	OTT4N86S	Strong	Biomarker	[7]
KRT73	OTCBXTAJ	Strong	Biomarker	[7]
LY6E	OTMG16BZ	Strong	Biomarker	[21]
MARK4	OT6Z2TGV	Strong	Genetic Variation	[22]
MDH1	OTJEO4E8	Strong	Biomarker	[23]
MT1F	OTZVUYG1	Strong	Biomarker	[13]
MT1G	OTAV1OCR	Strong	Biomarker	[13]
MT1H	OT0MVBM6	Strong	Biomarker	[13]
MT1M	OTVT8PLU	Strong	Biomarker	[13]
MT1X	OT9AKFVS	Strong	Biomarker	[13]
MT3	OTVCZ7HI	Strong	Biomarker	[13]
MTMR7	OT47NVYM	Strong	Biomarker	[24]
NPAS2	OTMRT2TS	Strong	Genetic Variation	[24]
NRGN	OTVGE10W	Strong	Altered Expression	[25]
PGAM1	OTZ5DB06	Strong	Biomarker	[26]
PLCXD3	OTJNSWMU	Strong	Genetic Variation	[27]
PRDX2	OTLWCY9T	Strong	Genetic Variation	[16]
RASA2	OTL06RG2	Strong	Biomarker	[24]
RGS7	OTDQA90X	Strong	Genetic Variation	[27]
SERPINF2	OTZGAF8B	Strong	Genetic Variation	[27]
SPRN	OTVKSA48	Strong	Genetic Variation	[28]
STMN2	OT0FUHLH	Strong	Genetic Variation	[29]
SUCLA2	OTMZD4PW	Strong	Biomarker	[30]
TMEM171	OTJPHOWW	Strong	Biomarker	[19]

References

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• [2] Creutzfeldt-Jakob Disease Subtype-Specific Regional and Temporal Regulation of ADP Ribosylation Factor-1-Dependent Rho/MLC Pathway at Pre-Clinical Stage.J Mol Neurosci. 2015 Jun;56(2):329-48. doi: 10.1007/s12031-015-0544-3. Epub 2015 Apr 21.
• [3] A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease.PLoS One. 2012;7(8):e43926. doi: 10.1371/journal.pone.0043926. Epub 2012 Aug 30.
• [4] Monitoring rhGH Safety: rhGH Registries, SAGhE and Future Needs.Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):150-161. doi: 10.17458/per.vol16.2018.mr.monitoringrhghsafety.
• [5] Increased 14-3-3 and protein isoform expressions in parasitic eosinophilic meningitis caused by Angiostrongylus cantonensis infection in mice.PLoS One. 2019 Mar 7;14(3):e0213244. doi: 10.1371/journal.pone.0213244. eCollection 2019.
• [6] Strain-Specific Altered Regulatory Response of Rab7a and Tau in Creutzfeldt-Jakob Disease and Alzheimer's Disease.Mol Neurobiol. 2017 Jan;54(1):697-709. doi: 10.1007/s12035-016-9694-8. Epub 2016 Jan 14.
• [7] 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.
• [8] Accumulation of prion protein in the vagus nerve in creutzfeldt-jakob disease.Ann Neurol. 2019 May;85(5):782-787. doi: 10.1002/ana.25451. Epub 2019 Mar 11.
• [9] Detection of two transforming growth factor-beta-related morphogens, bone morphogenetic proteins-4 and -5, in RNA of multiple sclerosis and Creutzfeldt-Jakob disease lesions.Acta Neuropathol. 1995;90(1):76-9. doi: 10.1007/BF00294462.
• [10] Neuron-Specific Enolase as a Biomarker: Biochemical and Clinical Aspects.Adv Exp Med Biol. 2015;867:125-43. doi: 10.1007/978-94-017-7215-0_9.
• [11] Biological Assessment of a (18)F-Labeled Sulforhodamine 101 in a Mouse Model of Alzheimer's Disease as a Potential Astrocytosis Marker.Front Neurosci. 2019 Jul 16;13:734. doi: 10.3389/fnins.2019.00734. eCollection 2019.
• [12] alpha-Hemoglobin stabilizing protein is not a suitable marker for a screening test for variant Creutzfeldt-Jakob disease.Transfusion. 2008 Aug;48(8):1616-26. doi: 10.1111/j.1537-2995.2008.01759.x. Epub 2008 May 22.
• [13] Differential expression of metallothioneins in human prion diseases.Dement Geriatr Cogn Disord. 2000 Sep-Oct;11(5):251-62. doi: 10.1159/000017247.
• [14] Different 2-Aminothiazole Therapeutics Produce Distinct Patterns of Scrapie Prion Neuropathology in Mouse Brains.J Pharmacol Exp Ther. 2015 Oct;355(1):2-12. doi: 10.1124/jpet.115.224659. Epub 2015 Jul 29.
• [15] Enhanced Aquaporin-4 immunoreactivity in sporadic Creutzfeldt-Jakob disease.Neuropathology. 2007 Aug;27(4):314-23. doi: 10.1111/j.1440-1789.2007.00781.x.
• [16] An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.Neuropathology. 2010 Apr;30(2):159-64. doi: 10.1111/j.1440-1789.2009.01048.x. Epub 2009 Aug 23.
• [17] Different chromogranin immunoreactivity between prion and a-beta amyloid plaque.Neuroreport. 2003 Apr 15;14(5):755-8. doi: 10.1097/00001756-200304150-00019.
• [18] Cystatin F is a biomarker of prion pathogenesis in mice.PLoS One. 2017 Feb 8;12(2):e0171923. doi: 10.1371/journal.pone.0171923. eCollection 2017.
• [19] Quantitative study of spongiform change in putamen of 24 cases of Creutzfeldt-Jakob disease.J Neuropathol Exp Neurol. 2004 Mar;63(3):193-8. doi: 10.1093/jnen/63.3.193.
• [20] Absence of association between two HECTD2 polymorphisms and sporadic Creutzfeldt-Jakob disease.Dement Geriatr Cogn Disord. 2011;31(2):146-51. doi: 10.1159/000324133. Epub 2011 Feb 17.
• [21] Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell death.J Neurol Sci. 2006 Jul 15;246(1-2):21-30. doi: 10.1016/j.jns.2006.01.019. Epub 2006 Mar 20.
• [22] Reduction of protein kinase MARK4 in the brains of experimental scrapie rodents and human prion disease correlates with deposits of PrP(Sc).Int J Mol Med. 2012 Sep;30(3):569-78. doi: 10.3892/ijmm.2012.1025. Epub 2012 Jun 12.
• [23] Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.Biomolecules. 2019 Nov 28;9(12):800. doi: 10.3390/biom9120800.
• [24] Genetics of prion diseases.Curr Opin Genet Dev. 2013 Jun;23(3):345-51. doi: 10.1016/j.gde.2013.02.012. Epub 2013 Mar 19.
• [25] CSF neurogranin as a neuronal damage marker in CJD: a comparative study with AD.J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):846-853. doi: 10.1136/jnnp-2018-320155. Epub 2019 May 16.
• [26] Global protein differential expression profiling of cerebrospinal fluid samples pooled from Chinese sporadic CJD and non-CJD patients.Mol Neurobiol. 2014 Feb;49(1):290-302. doi: 10.1007/s12035-013-8519-2. Epub 2013 Aug 4.
• [27] Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.Neurobiol Aging. 2012 Jul;33(7):1487.e21-8. doi: 10.1016/j.neurobiolaging.2011.10.011. Epub 2011 Dec 2.
• [28] Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats.Sci Rep. 2019 Oct 24;9(1):15261. doi: 10.1038/s41598-019-51625-8.
• [29] RARB and STMN2 polymorphisms are not associated with sporadic Creutzfeldt-Jakob disease (CJD) in the Korean population.Mol Biol Rep. 2014;41(4):2389-95. doi: 10.1007/s11033-014-3093-x. Epub 2014 Jan 12.
• [30] Amyloid- accumulation in the CNS in human growth hormone recipients in the UK.Acta Neuropathol. 2017 Aug;134(2):221-240. doi: 10.1007/s00401-017-1703-0. Epub 2017 Mar 27.