Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Preferred Label : Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;

Symbol : FTDALS4;

CISMeF acronym : FTDALS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tank-binding kinase 1 gene (TBK1, 604834.0001);

Prefixed ID : #616439;

Details

Origin ID

616439;

UMLS CUI

C4225325;

Automatic exact mappings (from CISMeF team)
- TBK1 wt Allele [NCIt concept]
- frontotemporal dementia and/or amyotrophic lateral sclerosis-4 [DO Concept]
DO Cross reference
- frontotemporal dementia and/or amyotrophic lateral sclerosis-4 [DO Concept]
Genes related to phenotype
- Tank-binding kinase 1 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Adult onset [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)
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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