Perry syndrome

Preferred Label : Perry syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Parkinsonism with alveolar hypoventilation and mental depression;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynactin 1 gene (DCTN1, 601143.0006);

Prefixed ID : #168605;

Détails

Origin ID

168605;

UMLS CUI

C1868594;

Automatic exact mappings (from CISMeF team)
- Perry syndrome [ICD-11 More detail]
- Perry syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Perry syndrome [DO Concept]
- Perry syndrome [Disease (Nov.)]
- Perry syndrome [ORDO Disease]
- Perry syndrome (disorder) [SNOMED CT concept]
- perry syndrome [MeSH concept]
- perry syndrome [MeSH Supplementary Concept]
DO Cross reference
- Perry syndrome [DO Concept]
Genes related to phenotype
- Dynactin 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Akinesia [HPO term]
- Anxiety [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Central hypoventilation [HPO term]
- Depression [HPO term]
- Disinhibition [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Frontotemporal dementia [HPO term]
- Hyperorality [HPO term]
- Hypoventilation [HPO term]
- Inappropriate behavior [HPO term]
- Insomnia [HPO term]
- Mask-like facies [HPO term]
- Neuronal loss [HPO term]
- Parkinsonism [HPO term]
- Primitive reflex [HPO term]
- Rapidly progressive [HPO term]
- Respiratory arrest [HPO term]
- Respiratory insufficiency [HPO term]
- Rigidity [HPO term]
- Short stepped shuffling gait [HPO term]
- Sleep disturbance [HPO term]
- Suicidal ideation [HPO term]
- Tremor [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
- Weak voice [HPO term]
- Weight loss [HPO term]
- alveolar hypoventilation [HPO term]
ORDO concept(s)
- Perry syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Perry syndrome [ORDO Disease]
- Perry syndrome [DO Concept]
- Perry syndrome [Disease (Nov.)]
- Perry syndrome [MedDRA Preferred Term]
- Perry syndrome (disorder) [SNOMED CT concept]
- perry syndrome [MeSH Supplementary Concept]
- perry syndrome [MeSH concept]

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

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