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Familial Alzheimer-like prion disease

ORPHA:280397DiseaseAutosomal dominantAdult

Ассоциированные гены (1)

PRNP
prion protein (Kanno blood group)
Disease-causing germline mutation(s) in
OMIM: 176640

Фенотипы (12)

Очень частый (80–99%)12
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000716Depression
HP:0000739Anxiety
HP:0001328Specific learning disability
HP:0002360Sleep abnormality
HP:0002549Deficit in phonologic short-term memory
HP:0007018Attention deficit hyperactivity disorder
HP:0011458Abdominal symptom
HP:0030223Perseveration
HP:0040264Jaw pain
HP:0100543Cognitive impairment

Эпидемиология (2)

Cases/families
Worldwide
Point prevalence
<1 / 1 000 000
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы