Pantothenate Kinase-Associated Neurodegeneration

Preferred Label : Pantothenate Kinase-Associated Neurodegeneration;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.;

NCI Metathesaurus CUI : CL449044;

Details

Origin ID

C84988;

UMLS CUI

C0018523;

Automatic exact mappings (from CISMeF team)
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pantothenate-kinase-associated neurodegeneration [ICD-11 More detail]
- pantothenate kinase 2 [HGNC gene]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase-associated neurodegeneration [DO Concept]
Currated CISMeF NLP mapping
- Hallervorden Spatz syndrome [Disease (Nov.)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Neurodegeneration with brain iron accumulation 1 [OMIM Phenotype]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pigmentary pallidal degeneration [SNOMED Notion]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hallervorden Spatz disease [PASCAL descriptor]
- Hallervorden Spatz syndrome [Disease (Nov.)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Neurodegeneration with brain iron accumulation 1 [OMIM Phenotype]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pigmentary pallidal degeneration [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PANK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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