Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Preferred Label : Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;

Symbol : FTDALS2;

CISMeF acronym : FTDALS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coiled-coil-helix-coiled-coil helix domain-containing protein 10 gene (CHCHD10, 615903.0001);

Prefixed ID : #615911;

Détails

Origin ID

615911;

UMLS CUI

C4014648;

Automatic exact mappings (from CISMeF team)
- frontotemporal dementia and/or amyotrophic lateral sclerosis-2 [DO Concept]
DO Cross reference
- frontotemporal dementia and/or amyotrophic lateral sclerosis-2 [DO Concept]
Genes related to phenotype
- Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbar palsy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Frontal lobe dementia [HPO term]
- Frontotemporal dementia [HPO term]
- Hyporeflexia [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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