Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Preferred Label : Frontotemporal dementia and/or amyotrophic lateral sclerosis 7;

Symbol : FTDALS7;

CISMeF acronym : DEM; FTD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Frontotemporal dementia, chromosome 3-linked; Amyotrophic lateral sclerosis 17; FTD3; ALS17; Amyotrophic lateral sclerosis, chmp2b-related;

Description : A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see 104300) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance. See also frontotemporal lobe dementia (FLDEM; 600274), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT; 157140).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromatin-modifying protein 2B (CHMP2B, 609512.0001);

Prefixed ID : #600795;

Details

Origin ID

600795;

UMLS CUI

C1833296;

Automatic exact mappings (from CISMeF team)
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- Chromosome 3-Linked Frontotemporal Dementia [MeSH concept]
- DMRT1 wt Allele [NCIt concept]
- chromosome 3-linked frontotemporal dementia [DO Concept]
- doublesex and mab-3 related transcription factor 1 [ORDO Gene]
- electronic health records [MeSH Descriptor]
- peak expiratory flow rate [SNOMED Notion]
- solute carrier family 11 member 2 [ORDO Gene]
Broader ORDO disease(s)
- Frontotemporal dementia [ORDO Disease]
Currated CISMeF NLP mapping
- Chromosome 3-Linked Frontotemporal Dementia [MeSH Supplementary Concept]
- Frontotemporal dementia with gene located on 3p11 (disorder) [SNOMED CT concept]
DO Cross reference
- chromosome 3-linked frontotemporal dementia [DO Concept]
Genes related to phenotype
- Charged multivesicular body protein 2b [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Apathy [HPO term]
- Astrocytosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral cortical atrophy [HPO term]
- Disinhibition [HPO term]
- Dyscalculia [HPO term]
- Dystonia [HPO term]
- Frontal release signs [HPO term]
- Frontotemporal dementia [HPO term]
- Gait disturbance [HPO term]
- Hyperorality [HPO term]
- Hyperreflexia [HPO term]
- Inappropriate behavior [HPO term]
- Lack of insight [HPO term]
- Loss of speech [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Middle age onset [HPO term]
- Mutism [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Orofacial dyskinesia [HPO term]
- Personality changes [HPO term]
- Restlessness [HPO term]
- Rigidity [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 3-Linked Frontotemporal Dementia [MeSH concept]
- Chromosome 3-Linked Frontotemporal Dementia [MeSH Supplementary Concept]
- Frontotemporal dementia with gene located on 3p11 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis, Chmp2B-Related [MeSH concept]

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