Frontotemporal dementia and/or amyotrophic lateral sclerosis 3

Preferred Label : Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;

Symbol : FTDALS3;

CISMeF acronym : FTDALS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sequestosome 1 gene (SQSTM1, 601530.0001);

Prefixed ID : #616437;

Details

Origin ID

616437;

UMLS CUI

C4225326;

Automatic exact mappings (from CISMeF team)
- frontotemporal dementia and/or amyotrophic lateral sclerosis-3 [DO Concept]
DO Cross reference
- frontotemporal dementia and/or amyotrophic lateral sclerosis-3 [DO Concept]
Genes related to phenotype
- Sequestosome 1 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar palsy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Disinhibition [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Fasciculations [HPO term]
- Frontotemporal dementia [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Language impairment [HPO term]
- Muscle weakness [HPO term]
- Mutism [HPO term]
- Personality changes [HPO term]
- Progressive [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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