Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1

Preferred Label : Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1;

CISMeF acronym : ALS-PDC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ALS-PDC; Amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam; Guam disease;

Description : Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodengenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.;

Inheritance : Autosomal dominant;

Prefixed ID : #105500;

Détails

Origin ID

105500;

UMLS CUI

C0543859;

Automatic exact mappings (from CISMeF team)
- TRPM7 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis, parkinsonism, dementia complex (disorder) [SNOMED CT concept]
- Parkinson-dementia complex of Guam [ORDO Disease]
- amyotrophic lateral sclerosis parkinsonism dementia [Disease (Nov.)]
- amyotrophic lateral sclerosis, guam form [MeSH concept]
- amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily M, member 7 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar palsy [HPO term]
- Dementia [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Paralysis [HPO term]
- Parkinsonism [HPO term]
ORDO concept(s)
- Parkinson-dementia complex of Guam [ORDO Disease]
See also inter- (CISMeF)
- amyotrophic lateral sclerosis [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic lateral sclerosis, parkinsonism, dementia complex (disorder) [SNOMED CT concept]
- Parkinson-dementia complex of Guam [ORDO Disease]
- Parkinson-dementia complex of Guam (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis parkinsonism dementia [Disease (Nov.)]
- amyotrophic lateral sclerosis, guam form [MeSH concept]
- amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 [DO Concept]

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

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