Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Preferred Label : Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Harp syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pantothenate kinase-2 gene (PANK2, 607157.0011);

Laboratory abnormalities : Hypoprebetalipoproteinemia;

Prefixed ID : #607236;

Details

Origin ID

607236;

UMLS CUI

C1846582;

Automatic exact mappings (from CISMeF team)
- HARP syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- HARP syndrome [ORDO Disease]
- hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [MeSH concept]
- hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [MeSH Supplementary Concept]
Genes related to phenotype
- Pantothenate kinase 2 [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased LDL cholesterol concentration [HPO term]
- Dementia [HPO term]
- Dementia, progressive [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Eye of the tiger anomaly of globus pallidus [HPO term]
- Juvenile onset [HPO term]
- Orofacial dyskinesia [HPO term]
- Pallidal degeneration [HPO term]
- Rod-cone dystrophy [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- HARP syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HARP syndrome [ORDO Disease]
- hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [MeSH Supplementary Concept]
- hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients