Alzheimer disease, familial, 1

Preferred Label : Alzheimer disease, familial, 1;

Symbol : AD1;

CISMeF acronym : AD; AD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Presenile and senile dementia;

Included titles and symbols : Alzheimer disease; Alzheimer disease, early-onset, with cerebral amyloid angiopathy; Alzheimer disease, protection against; AD;

Description : Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. - Genetic Heterogeneity of Alzheimer Disease Alzheimer disease is a genetically heterogeneous disorder. See also AD2 (104310), associated with the APOE*4 allele (107741) on chromosome 19; AD3 (607822), caused by mutation in the presenilin-1 gene (PSEN1; 104311) on 14q; and AD4 (606889), caused by mutation in the PSEN2 gene (600759) on 1q31. There is evidence for additional AD loci on other chromosomes; see AD5 (602096) on 12p11, AD6 (605526) on 10q24, AD7 (606187) on 10p13, AD8 (607116) on 20p, AD9 (608907) on 19p13, AD10 (609636) on 7q36, AD11 (609790) on 9q22, AD12 (611073) on 8p12-q22, AD13 (611152) on 1q21, AD14 (611154) on 1q25, AD15 (611155) on 3q22-q24, AD16 (300756) on Xq21.3, AD17 (615080) on 6p21.2, and AD18 (615590), associated with variation in the ADAM10 gene (602192) on 15q21. Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (502500). Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; 103950.0005), low density lipoprotein-related protein-1 (LRP1; 107770), the transferrin gene (TF; 190000), the hemochromatosis gene (HFE; 613609), the NOS3 gene (163729), the vascular endothelial growth factor gene (VEGF; 192240), the ABCA2 gene (600047), and the TNF gene (191160) (see MOLECULAR GENETICS).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the alpha-2-macroglobulin gene (A2M, 103950.0005); Caused by mutation in the amyloid beta (A4) precursor protein gene (APP, 104760.0002);

Prefixed ID : #104300;

Details

Origin ID

104300;

UMLS CUI

C1863052;

Automatic exact mappings (from CISMeF team)
- AD Regimen [NCIt concept]
- AD Term Type [NCIt concept]
- APP wt Allele [NCIt concept]
- Address Data Type [NCIt concept]
- Admitting diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Alzheimer's Disease 1 [NCIt concept]
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Analysis Dataset Domain [NCIt concept]
- Auditory synaptopathy or neuropathy [ICD-11 Category]
- Final diagnosis (discharge) (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Right atrium [FMA entity]
- Up to [NCIt concept]
- administration and dosage [MeSH Qualifier]
- alzheimer disease, Early-Onset, with cerebral amyloid angiopathy [MeSH concept]
- alzheimer disease, Early-Onset, with cerebral amyloid angiopathy [MeSH Supplementary Concept]
- alzheimer disease, familial, 1 [MeSH concept]
- anterodorsal nucleus of thalamus [UBERON concept]
- atopic dermatitis, nos [SNOMED Notion]
- dementia [ICPC-2 Rubric]
- dermatitis, atopic [MeSH Descriptor]
- presenile and senile dementia [MeSH concept]
- presenile and senile dementia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- ALZHEIMER'S DISEASE [WHO-ART Preferred Term]
- Alzheimer disease [PASCAL descriptor]
- Alzheimer disease [Disease (Nov.)]
- Alzheimer disease [ICD-11 Category]
- Alzheimer disease [Artificial nutrition thesaurus concept]
- Alzheimer disease [HPO term]
- Alzheimer disease [Radlex concept]
- Alzheimer disease [ORDO Disease]
- Alzheimer's Disease [NCIt concept]
- Alzheimer's disease [ICD-10 category]
- Alzheimer's disease [DO Concept]
- Alzheimer's disease [HPMULTI term]
- Alzheimer's disease [MedDRA LLT]
- Alzheimer's disease [LOINC component]
- Alzheimer's disease [ICD-9 code]
- Alzheimer's disease (disorder) [SNOMED CT concept]
- Alzheimer's disease (incl subtypes) [MedDRA High Level Term]
- Alzheimer's disease, unspecified [ICD-10 Sub-category]
- Alzheimers disease [ICD-10 category (who)]
- Alzheimers disease, unspecified [ICD-10 Sub-category (who)]
- Dementia Alzheimer's type [MedDRA Preferred Term]
- Dementia of the Alzheimer's type NOS [MedDRA LLT]
- alzheimer disease [MeSH Descriptor]
- alzheimer disease [MeSH concept]
- alzheimer's disease [EMDN type]
- alzheimer's disease [MedlinePlus Topic]
- alzheimer's disease, nos [SNOMED Notion]
DO Cross reference
- Alzheimer's disease 1 [DO Concept]
False automatic mappings
- Andorra [NCIt concept]
Genes related to phenotype
- Amyloid beta a4 precursor protein [OMIM gene]
- Myeloperoxidase [OMIM gene]
- Plasminogen activator, urinary [OMIM gene]
HPO term(s)
- Alzheimer disease [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased circulating GABA concentration [HPO term]
- Dementia [HPO term]
- Heterogeneous [HPO term]
- Long-tract signs [HPO term]
- Neurofibrillary tangles [HPO term]
- Parkinsonism [HPO term]
ORDO concept(s)
- Alzheimer disease [ORDO Disease]
- Early-onset autosomal dominant Alzheimer disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALZHEIMER'S DISEASE [WHO-ART Preferred Term]
- Alzheimer disease [HPO term]
- Alzheimer disease [ORDO Disease]
- Alzheimer disease [Radlex concept]
- Alzheimer's Disease [NCIt concept]
- Alzheimer's Disease 1 [NCIt concept]
- Alzheimer's disease [LOINC component]
- Alzheimer's disease [ICD-9 code]
- Alzheimer's disease [MedDRA LLT]
- Alzheimer's disease [ICD-10 category]
- Alzheimer's disease [DO Concept]
- Alzheimer's disease (disorder) [SNOMED CT concept]
- Alzheimer's disease, unspecified [ICD-10 Sub-category]
- Alzheimers disease [ICD-10 category (who)]
- Dementia Alzheimer's type [MedDRA Preferred Term]
- Dementia due to Alzheimer disease [ICD-11 Category]
- Dementia of the Alzheimer's type NOS [MedDRA LLT]
- alzheimer disease [MeSH Descriptor]
- alzheimer disease [MeSH concept]
- alzheimer disease type 1 [MeSH Supplementary Concept]
- alzheimer disease, familial, 1 [MeSH concept]
- alzheimer's disease [MedlinePlus Topic]
- alzheimer's disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Dementia due to Alzheimer disease [ICD-11 Category]

Keyword's position in hierarchy(ies) :

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