Choreoacanthocytosis

Preferred Label : Choreoacanthocytosis;

Symbol : CHAC;

CISMeF acronym : CHAC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CHOREA-ACANTHOCYTOSIS; Acanthocytosis with neurologic disorder; Levine-critchley syndrome; Neuroacanthocytosis;

Description : Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vacuolar protein sorting 13A gene (VPS13A, 605978.0001);

Laboratory abnormalities : Increased creatine kinase; Normal serum lipoprotein levels;

Prefixed ID : #200150;

Details

Origin ID

200150;

UMLS CUI

C0393576;

Currated CISMeF NLP mapping
- Chorea acanthocytosis syndrome (disorder) [SNOMED CT concept]
- Chorea-acanthocytosis [MedDRA Preferred Term]
- Choreoacanthocytosis [ORDO Disease]
- Choreoacanthocytosis (disorder) [SNOMED CT concept]
- Neuroacanthocytosis [ICD-11 More detail]
- Neuroacanthocytosis [MedDRA Preferred Term]
- Neuroacanthocytosis [NCIt concept]
- Neuroacanthocytosis [ORDO Disease]
- chorea acanthocytosis [Disease (Nov.)]
- choreaacanthocytosis [DO Concept]
- choreoacanthocytosis [SNOMED Notion]
- neuroacanthocytosis [DO Concept]
- neuroacanthocytosis [MeSH Descriptor]
- neuroacanthocytosis [MeSH concept]
DO Cross reference
- choreaacanthocytosis [DO Concept]
Genes related to phenotype
- Vacuolar protein sorting 13 homolog a [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Caudate atrophy [HPO term]
- Dementia [HPO term]
- Disinhibition [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Emotional lability [HPO term]
- Hyporeflexia [HPO term]
- Limb muscle weakness [HPO term]
- Mood changes [HPO term]
- Orofacial dyskinesia [HPO term]
- Parkinsonism [HPO term]
- Personality changes [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Progressive choreoathetosis [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Self-mutilation of tongue and lips due to involuntary movements [HPO term]
- Sensory neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tics [HPO term]
ORDO concept(s)
- Choreoacanthocytosis [ORDO Disease]
See also inter- (CISMeF)
- Choreoacanthocytosis [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chorea acanthocytosis syndrome (disorder) [SNOMED CT concept]
- Chorea-acanthocytosis [MedDRA Preferred Term]
- Choreoacanthocytosis [ORDO Disease]
- Choreoacanthocytosis [ICD-11 More detail]
- Choreoacanthocytosis (disorder) [SNOMED CT concept]
- Neuroacanthocytosis [NCIt concept]
- Neuroacanthocytosis [ORDO Disease]
- Neuroacanthocytosis [ICD-11 More detail]
- Neuroacanthocytosis [MedDRA Preferred Term]
- chorea acanthocytosis [Disease (Nov.)]
- chorea acanthocytosis syndrome [SNOMED Notion]
- choreaacanthocytosis [DO Concept]
- choreoacanthocytosis [SNOMED Notion]
- neuroacanthocytosis [MeSH Descriptor]
- neuroacanthocytosis [MeSH concept]
- neuroacanthocytosis [DO Concept]

Keyword's position in hierarchy(ies) :

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