Disease #00207 (CJD (Creutzfeldt-Jakob disease (CJD)), OMIM:123400)

Official abbreviation CJD
Name Creutzfeldt-Jakob disease (CJD)
OMIM ID 123400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 2 genes HLA-DQB1, PRNP
Associated tissues -
Disease features -
Remarks -


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00004169 - - daugther Case2 F ? Japan - - - - - CJD - PRNP PRNP 2 1 Johan den Dunnen
00004170 - - brother of Case3, nephew Case2 M ? Japan - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004171 - - mother Case4, aunt Case1/3 F ? Japan - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004172 - - brother of Case1, nephew Case2 M ? Japan - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004174 - - - ? ? Japan - - - - - CJD - PRNP PRNP 2 1 Johan den Dunnen
00004183 - - - ? ? United States - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004184 - - - ? ? United States - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004185 - - - ? ? United States - - - - - CJD - PRNP PRNP 2 3 Johan den Dunnen
00004187 - - 3-generation family, 5 affecteds ? ? United States - - - - - CJD - PRNP PRNP 2 5 Johan den Dunnen
00004188 - - family, 3 affecteds ? ? Tunisia - - - - - CJD - PRNP PRNP 1 9 Johan den Dunnen
00004189 - - multi-generation family ? ? United States - - - - - CJD dementia, atypical PRNP PRNP 2 1 Johan den Dunnen
00004195 - - 3-generation family, 2 affected sisters, 2 unaffected carrier sisters ? ? Italy - - - - - CJD - PRNP PRNP 2 4 Johan den Dunnen
00004196 - - 2 unrelated patients ? ? Italy - - - - - CJD - PRNP PRNP 1 2 Johan den Dunnen
00004197 - - - ? ? Italy - - - - - CJD - PRNP PRNP 2 1 Johan den Dunnen
00004198 - - - ? ? Italy - - - - - CJD - PRNP PRNP 3 1 Johan den Dunnen
00004199 - - - ? ? Italy - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004200 - - - ? ? Italy - - - - - CJD - PRNP PRNP 1 1 Johan den Dunnen
00004201 - - patient and affected carrier brother ? ? Italy - - - - - CJD - PRNP PRNP 2 2 Johan den Dunnen
00004209 - - 4-generation family, 2 affecteds ? ? United States - - - - - CJD atypical PRNP PRNP 2 2 Johan den Dunnen
00011462 - PubMed: Owen 2014 - - - - - - 0 - - CJD - PRNP PRNP 1 135 J Beck
00017845 - PubMed: Beck 2010 - M ? India Inida, south >75y 0 - - CJD see paper; 75y-excessive fatigue, perceived left sided weakness/sensory disturbances feet; in 6m rapid deterioration, recurrent falls, asymmetrical akinetic rigid syndrome, broken pursuit eye movements, myoclonic jerks, mild apraxia with well preserved cognition; MRI high signal change putamen/caudate nuclei bilaterally (particularly right); CSF unremarkable (14-3-3 absent); EEG left hemisphere slow wave activity; declined rapidly, died without post-mortem examination PRNP PRNP 2 1 Johan den Dunnen
00017856 - PubMed: Cochran 1996 6-generation family, 10 affecteds ? no United States Ukrain;Jewish-Ashkenazi - 0 - - CJD see paper PRNP PRNP 1 10 Johan den Dunnen
00017857 - PubMed: Skworc 1999 3-generation family, 3 affecteds (3F) F no Germany - - 0 - - CJD see paper PRNP PRNP 1 3 Johan den Dunnen
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