Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia

Preferred Label : Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia;

Symbol : ALS10;

CISMeF acronym : ALS10;

Type : Phenotype, molecular basis known;

Included titles and symbols : Frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related; Frontotemporal dementia with tdp43 inclusions, tardbp-related; Ftld-tdp, tardbp-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TAR DNA-binding protein (TARDBP, 605078.0001);

Prefixed ID : #612069;

Details

Origin ID

612069;

UMLS CUI

C2677565;

Automatic exact mappings (from CISMeF team)
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- TAR DNA binding protein [ORDO Gene]
- TAR DNA binding protein [HGNC gene]
- TARDBP wt Allele [NCIt concept]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia [NCIt concept]
- Amyotrophic lateral sclerosis type 10 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 10 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 10 [MeSH concept]
- amyotrophic lateral sclerosis type 10 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 10 [DO Concept]
Genes related to phenotype
- Tar dna-binding protein [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Disinhibition [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Emotional lability [HPO term]
- Frontotemporal dementia [HPO term]
- Muscle weakness [HPO term]
- Perseveration [HPO term]
- Rapidly progressive [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia [NCIt concept]
- Amyotrophic lateral sclerosis type 10 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 10 [MeSH Supplementary Concept]

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