Disease #00205 (PRND (prion disease (PRND)), OMIM:606688)

Official abbreviation PRND
Name prion disease (PRND)
OMIM ID 606688
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene PRNP
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Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00004299 - PubMed: Mead 2013 5-generation family, 11 affecteds (8F, 3M), 9 deceased - no United Kingdom (Great Britain) - - 0 - - PRND chronic diarrhea with autonomic failure; length dependent axonal, predominantly sensory, peripheral polyneuropathy onset in early adulthood; 40s-50s cognitive decline, seizures PRNP PRNP 1 11 J Beck
00004300 - PubMed: Beck 2010 - F ? Ireland - - 0 - - PRND see paper PRNP PRNP 1 1 J Beck
00017842 - PubMed: Beck 2010 - F no Uganda Gujarati 48y 0 - - PRND see paper PRNP PRNP 1 1 Johan den Dunnen
00017847 - PubMed: Beck 2010 - F ? Turkey - - 0 - - PRND - PRNP PRNP 1 1 Johan den Dunnen
00017848 - PubMed: Beck 2010 - F ? Jamaica - - 0 - - PRND dizziness, slurred speech, second grade nystagmus, cerebellar ataxia; nerve conduction revealed peripheral neuropathy PRNP PRNP 3 1 Johan den Dunnen
00017849 - PubMed: Beck 2010 - F ? United Kingdom (Great Britain) - >43y 0 - - PRND 33y-psychotic depression, clumsiness, balance/gait difficulties, required residential home support; 34y-increasing gait disturbances, spastic paraparesis with extrapyramidal features, dyspraxia, urgency of micturition, short term memory difficulties, significant frontal lobe dysfunction; MRI moderate generalised atrophy; EEG non-specific changes; CSF slightly elevated S100, negative for 14-3-3 protein;mrapid cognitive decline with psychiatric disturbance, incontinence, leg spasms, cerebellar dysfunction; 43y-severly ill, bed bound, gastrotomy, requiring 24 hour nursing care, ... PRNP PRNP 3 1 Johan den Dunnen
00017852 - PubMed: Mead 2007 4-generation famlily, 4 affecteds (F, 3M) - no South Africa - 53y 0 - - PRND see paper; rapidly progressive dementia/ataxia over 1y to mute akinetic state with widespread spontaneous myoclonic jerks; initial subtle personality changes, soon followed by progressive memory loss. ... PRNP PRNP 1 1 Johan den Dunnen
00017853 - PubMed: Mead 2007 3-generation family, 3 affecteds (2F, M) ? no - - - 0 - - PRND see paper PRNP PRNP 1 3 Johan den Dunnen
00017854 - PubMed: Mead 2007 - F no Netherlands - - 0 - - PRND see paper PRNP PRNP 1 1 Johan den Dunnen
00017855 - PubMed: Beck 2007 - F no Japan - >49y 0 - - PRND see paper: progressive dementia, disorientation, cerebellar signs PRNP PRNP 1 1 Johan den Dunnen
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