ORPHA:1020
Early-onset autosomal dominant Alzheimer disease
Synonyms: EOFAD · Early-onset familial autosomal dominant Alzheimer disease · Familial Alzheimer disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset autosomal dominant Alzheimer disease | EOFAD · Early-onset familial autosomal dominant Alzheimer disease · Familial Alzheimer disease |
| fr | Maladie d'Alzheimer précoce autosomique dominante | Maladie d'Alzheimer familiale autosomique dominante |
| de | Alzheimer-Krankheit mit frühem Beginn, autosomal-dominante | Alzheimer-Krankheit, familiäre · EOFAD |
| es | Enfermedad de Alzheimer de inicio precoz autosómica dominante | Enfermedad de Alzheimer familiar de inicio precoz autosómica dominante |
| it | Malattia di Alzheimer, autosomica dominante, a esordio precoce | EOFAD · Malattia di Alzheimer familiare · Malattia di Alzheimer familiare, autosomica dominante, a esordio precoce |
| nl | Autosomaal dominante ziekte van Alzheimer met vroege aanvang | EOFAD · Familiale autosomaal dominante ziekte van Alzheimer met vroege aanvang · Familiale ziekte van Alzheimer |
| pt | Doença Alzheimer de início precoce autossómica dominante | Doença de Alzheimer familiar |
| pl | Wczesna postać autosomalnie dominującej choroby Alzheimera | EOFAD · Rodzinna choroba Alzheimera |
| cs | Autozomálně dominantní Alzheimerova nemoc s časným začátkem | EOFAD · Familiární forma Alzheimerovy nemoci · Familiární časná forma Alzheimerovy nemoci |
| uk | Аутосомно-домінантна хвороба Альцгеймера з раннім початком | Сімейна аутосомно-домінантна хвороба Альцгеймера з раннім початком · EOFAD · Сімейна хвороба Альцгеймера |
| zh | 早发性常染色体显性阿尔茨海默症 | 早发性家族性常染色体显性阿尔茨海默症 |
| tr | Erken başlangıçlı otozomal dominant Alzheimer hastalığı | EOFAD · Ailesel Alzheimer hastalığı · Erken başlangıçlı ailesel otozomal dominant Alzheimer hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104300 | NTBT | validated | |
| OMIM | 104310 | BTNT | validated | |
| OMIM | 602096 | BTNT | validated | |
| OMIM | 604154 | BTNT | validated | |
| OMIM | 605055 | BTNT | validated | |
| OMIM | 605526 | BTNT | validated | |
| OMIM | 606187 | BTNT | validated | |
| OMIM | 606889 | BTNT | validated | |
| OMIM | 607116 | BTNT | validated | |
| OMIM | 607822 | BTNT | validated | |
| OMIM | 609636 | BTNT | validated | |
| OMIM | 609790 | BTNT | validated | |
| OMIM | 611073 | BTNT | validated | |
| OMIM | 611152 | BTNT | validated | |
| OMIM | 611154 | BTNT | validated | |
| ICD-10 | G30.0 | NTBT | attributed | validated |
| ICD-11 | 6D80.0 | E | specific | validated |
| MONDO | 0015140 | E | validated | |
| UMLS | C0276496 | E | validated | |
| GARD | 12798 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TOMM40 | Biomarker tested in | Not yet assessed | HGNC:18001 | ENSG00000130204 | 608061 | 19q13.32 | translocase of outer mitochondrial membrane 40 | 25201778[PMID]_23234877[PMID] |
| TREM2 | Candidate gene tested in | Not yet assessed | HGNC:17761 | ENSG00000095970 | 605086 | 6p21.1 | triggering receptor expressed on myeloid cells 2 | 23380991[PMID] |
| APP | Disease-causing germline mutation(s) in | Assessed | HGNC:620 | ENSG00000142192 | 104760 | 21q21.3 | amyloid beta precursor protein | 20301414[PMID] |
| PSEN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9508 | ENSG00000080815 | 104311 | 14q24.2 | presenilin 1 | 20301414[PMID] |
| PSEN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9509 | ENSG00000143801 | 600759 | 1q42.13 | presenilin 2 | 20301414[PMID] |
| SORL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11185 | ENSG00000137642 | 602005 | 11q24.1 | sortilin related receptor 1 | 22472873[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
26 annotations · validated 2017-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0000713 | Agitation | |
| HP:0002120 | Cerebral cortical atrophy | Diagnostic criterion |
| HP:0001289 | Confusion | |
| HP:0000726 | Dementia | Diagnostic criterion |
| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | Diagnostic criterion |
| HP:0000738 | Hallucinations | |
| HP:0001276 | Hypertonia | |
| HP:0002463 | Language impairment | |
| HP:0002354 | Memory impairment | Diagnostic criterion |
| HP:0001336 | Myoclonus | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0002185 | Neurofibrillary tangles | |
| HP:0001300 | Parkinsonism | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000734 | Disinhibition | |
| Occasional (29-5%) | ||
| HP:0011446 | Abnormality of higher mental function | |
| HP:0000504 | Abnormality of vision | |
| HP:0002381 | Aphasia | |
| HP:0002186 | Apraxia | |
| HP:0001251 | Ataxia | |
| HP:0010526 | Dysgraphia | |
| HP:0010525 | Finger agnosia | |
| HP:0001249 | Intellectual disability | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0030219 | Semantic dementia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301414[PMID]_28093855[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1020
- This record as JSON: /data/d/1020.json