Alzheimer disease 4

Preferred Label : Alzheimer disease 4;

Symbol : AD4;

CISMeF acronym : AD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alzheimer disease, familial, 4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the presenilin 2 gene (PSEN2, 600759.0001);

Laboratory abnormalities : Neurofibrillary tangles and neuritic senile plaques rare; Severe amyloid angiopathy;

Prefixed ID : #606889;

Détails

Origin ID

606889;

UMLS CUI

C1847200;

Automatic exact mappings (from CISMeF team)
- PSEN2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Alzheimer disease type 4 [MeSH concept]
- Alzheimer's Disease 4 [NCIt concept]
- Alzheimer's disease 4 [DO Concept]
- alzheimer disease type 4 [MeSH Supplementary Concept]
DO Cross reference
- Alzheimer's disease 4 [DO Concept]
Genes related to phenotype
- Presenilin 2 [OMIM gene]
HPO term(s)
- Alzheimer disease [HPO term]
- Apraxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral amyloid angiopathy [HPO term]
- Cognitive impairment [HPO term]
- Dementia [HPO term]
- Memory impairment [HPO term]
- Middle age onset [HPO term]
- Neurofibrillary tangles [HPO term]
- Parietal hypometabolism in FDG PET [HPO term]
- Senile plaques [HPO term]
- Sleep-wake cycle disturbance [HPO term]
ORDO concept(s)
- Early-onset autosomal dominant Alzheimer disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alzheimer disease type 4 [MeSH concept]
- Alzheimer's Disease 4 [NCIt concept]
- Alzheimer's disease 4 [DO Concept]
- alzheimer disease type 4 [MeSH Supplementary Concept]

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