Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Preferred Label : Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;

Symbol : FTDALS1;

CISMeF acronym : ALSFTD; FTDALS; FTDALS1; FTDMND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ALSFTD; FTDMND; FTDALS; Frontotemporal dementia and/or amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis and/or frontotemporal dementia; Frontotemporal dementia and/or motor neuron disease;

Description : Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013). For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see 600274. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; 105400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by an expanded hexanucleotide repeat (GGGGCC)n in the chromosome 9 open reading frame 72 gene (C9ORF72, 614260.0001);

Prefixed ID : #105550;

Details

Origin ID

105550;

UMLS CUI

C5779877;

Automatic exact mappings (from CISMeF team)
- C9orf72 wt Allele [NCIt concept]
- Frontotemporal dementia with motor neuron disease [ICD-11 More detail]
Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis with frontotemporal dementia [ICD-11 More detail]
- Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 [NCIt concept]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- frontotemporal dementia with motor neuron disease [MeSH concept]
- frontotemporal dementia with motor neuron disease [MeSH Supplementary Concept]
DO Cross reference
- frontotemporal dementia and/or amyotrophic lateral sclerosis-1 [DO Concept]
Genes related to phenotype
- Chromosome 9 open reading frame 72 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Adult onset [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Apathy [HPO term]
- Apraxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Delusions [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dyscalculia [HPO term]
- Extrapyramidal dyskinesia [HPO term]
- Frontotemporal dementia [HPO term]
- Gliosis [HPO term]
- Hallucinations [HPO term]
- Muscle weakness [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Paraparesis [HPO term]
- Parkinsonism [HPO term]
- Rapidly progressive [HPO term]
- Skeletal muscle atrophy [HPO term]
- Supranuclear gaze palsy [HPO term]
- Tetraparesis [HPO term]
ORDO concept(s)
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 [NCIt concept]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- frontotemporal dementia with motor neuron disease [MeSH concept]
- frontotemporal dementia with motor neuron disease [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- frontotemporal dementia and/or amyotrophic lateral sclerosis-1 [DO Concept]

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