Semantic dementia
Synonyms: Semantic primary progressive aphasia · Semantic variant PPA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Semantic dementia | Semantic primary progressive aphasia · Semantic variant PPA |
| fr | Démence sémantique | APP sémantique · Aphasie primaire progressive sémantique |
| de | Semantische Demenz | |
| es | Demencia semántica | APP semántica · Afasia primaria progresiva semántica |
| it | Demenza semantica | Afasia primitiva progressiva semantica · PPA, variante semantica |
| nl | Semantische dementie | Semantische primaire progressieve afasie · Semantische variante PPA |
| pt | Afasia, progressiva primária, tipo fluente | |
| pl | Demencja semantyczna | Semantyczna pierwotna postępująca afazja · Semantyczny wariant PPA |
| cs | Sémantická demence | Sémantická primární progresivní afázie · Sémantická varianta PPA |
| uk | Семантична деменція | Семантична первинна прогресуюча афазія · Семантичний варіант PPA |
| zh | 词义性痴呆 | 语义原发性进行性失语 |
| tr | Anlamsal demans | Semantik varyant PPA · Anlamsal primer ilerleyici afazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172700 | NTBT | validated | |
| OMIM | 600274 | NTBT | validated | |
| ICD-10 | G31.0 | NTBT | attributed | validated |
| ICD-11 | 6D83 | NTBT | index | validated |
| MONDO | 0010857 | E | validated | |
| UMLS | C0338462 | E | validated | |
| GARD | 10792 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:282Frontotemporal dementia
rare genetic diseases; rare neurological diseases - ORPHA:95432Primary progressive aphasia
rare neurological diseases
No children.
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSEN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9508 | ENSG00000080815 | 104311 | 14q24.2 | presenilin 1 | 11094121[PMID] |
| C9ORF72 | Major susceptibility factor in | Not yet assessed | HGNC:28337 | ENSG00000147894 | 614260 | 9p21.2 | C9orf72-SMCR8 complex subunit | 23597030[PMID] |
| CHMP2B | Major susceptibility factor in | Assessed | HGNC:24537 | ENSG00000083937 | 609512 | 3p11.2 | charged multivesicular body protein 2B | 23597030[PMID] |
| GRN | Major susceptibility factor in | Assessed | HGNC:4601 | ENSG00000030582 | 138945 | 17q21.31 | granulin precursor | 23597030[PMID] |
| MAPT | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau | 23597030[PMID] |
| TMEM106B | Major susceptibility factor in | Assessed | HGNC:22407 | ENSG00000106460 | 613413 | 7p21.3 | transmembrane protein 106B | 27543298[PMID]_21614538[PMID] |
| TREM2 | Major susceptibility factor in | Assessed | HGNC:17761 | ENSG00000095970 | 605086 | 6p21.1 | triggering receptor expressed on myeloid cells 2 | 24139279[PMID]_25042114[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 21242493[PMID]_19884571[PMID]_17923640[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 21242493[PMID]_19884571[PMID]_17923640[PMID]_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.
HPO phenotypes
10 annotations · validated 2018-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030784 | Anomia | |
| HP:0002381 | Aphasia | |
| HP:0012444 | Brain atrophy | |
| HP:0030222 | Visual agnosia | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0012671 | Abulia | |
| HP:0010523 | Alexia | |
| HP:0000726 | Dementia | |
| HP:0010526 | Dysgraphia | |
| HP:0010522 | Dyslexia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 16317259[PMID]_29213413[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100069
- This record as JSON: /data/d/100069.json