ORPHA:275864
Behavioral variant of frontotemporal dementia
Synonyms: bv-FTD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Behavioral variant of frontotemporal dementia | bv-FTD |
| fr | Démence fronto-temporale, variante comportementale | vt-DFT |
| de | Verhaltensvariante der frontotemporalen Demenz | = en |
| es | Variante conductual de la demencia frontotemporal | |
| it | Variante comportamentale della demenza frontotemporale | = en |
| nl | Gedragsvariant van frontotemporale dementie | = en |
| pt | Variante comportamental da demência frontotemporal | = en |
| pl | Wariant behawioralny otępienia czołowo-skroniowego | = en |
| cs | Behaviorální varianta frontotemporální demence | = en |
| uk | Поведінковий варіант лобно-скроневої деменції | = en |
| zh | 行为异常型额颞叶痴呆 | = en |
| tr | Frontotemporal demansın davranışsal varyantı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172700 | NTBT | validated | |
| OMIM | 600274 | NTBT | validated | |
| OMIM | 600795 | BTNT | validated | |
| OMIM | 616437 | BTNT | validated | |
| OMIM | 619132 | BTNT | validated | |
| ICD-10 | G31.0 | NTBT | attributed | validated |
| ICD-11 | 6D83 | NTBT | index | validated |
| MONDO | 0017160 | E | validated | |
| UMLS | C4011788 | E | validated | |
| GARD | 7392 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:282Frontotemporal dementia
rare genetic diseases; rare neurological diseases - ORPHA:306708Frontotemporal neurodegeneration with movement disorder
rare genetic diseases; rare neurological diseases
No children.
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Genes
9 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] |
| SQSTM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11280 | ENSG00000161011 | 601530 | 5q35.3 | sequestosome 1 | 24042580[PMID] |
| C9ORF72 | Major susceptibility factor in | Assessed | HGNC:28337 | ENSG00000147894 | 614260 | 9p21.2 | C9orf72-SMCR8 complex subunit | 23597030[PMID]_23392204[PMID] |
| CHMP2B | Major susceptibility factor in | Assessed | HGNC:24537 | ENSG00000083937 | 609512 | 3p11.2 | charged multivesicular body protein 2B | 22355793[PMID]_23597030[PMID] |
| GRN | Major susceptibility factor in | Assessed | HGNC:4601 | ENSG00000030582 | 138945 | 17q21.31 | granulin precursor | 23597030[PMID]_23392204[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] |
| VCP | Major susceptibility factor in | Not yet assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 23597030[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Netherlands | Value and class | Validated | 22950490[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
40 annotations · validated 2016-05-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000718 | Aggressive behavior | |
| HP:0002381 | Aphasia | |
| HP:0000708 | Atypical behavior | |
| HP:0000734 | Disinhibition | |
| HP:0002442 | Dyscalculia | |
| HP:0010526 | Dysgraphia | |
| HP:0010522 | Dyslexia | |
| HP:0010529 | Echolalia | |
| HP:0030213 | Emotional blunting | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0000710 | Hyperorality | |
| HP:0000719 | Inappropriate behavior | |
| HP:0000737 | Irritability | |
| HP:0000757 | Lack of insight | |
| HP:0002371 | Loss of speech | |
| HP:0002354 | Memory impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0030223 | Perseveration | |
| HP:0000751 | Personality changes | |
| HP:0002465 | Poor speech | |
| HP:0000711 | Restlessness | |
| HP:0000723 | Restrictive behavior | |
| HP:0000474 | Thickened nuchal skin fold | |
| Frequent (79-30%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0030212 | Collectionism | |
| HP:0011204 | EEG with continuous slow activity | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0012671 | Abulia | |
| HP:0000741 | Apathy | |
| HP:0002446 | Astrocytosis | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002380 | Fasciculations | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0002300 | Mutism | |
| HP:0000709 | Psychosis | |
| HP:0002493 | Upper motor neuron dysfunction | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 18090417[PMID]_9791535[PMID]_20971753[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275864
- This record as JSON: /data/d/275864.json