pantothenate kinase-associated neurodegeneration

Preferred Label : pantothenate kinase-associated neurodegeneration;

MeSH definition : A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929);

MeSH synonym : pigmentary pallidal atrophy; hallervorden spatz disease; hallervorden spatz syndrome; neurodegeneration, pantothenate kinase-associated; pigmentary pallidal degeneration; degeneration, pigmentary pallidal; pallidal atrophy, pigmentary; hallervorden-spatz disease; hallervorden-spatz syndrome; pantothenate kinase associated neurodegeneration; PKAN neuroaxonal dystrophy, Juvenile-Onset; PKAN neuroaxonal dystrophy, juvenile onset; neurodegeneration with brain iron accumulation 1; neurodegeneration with brain iron accumulation type 1; neuroaxonal dystrophy, Juvenile-Onset; dystrophies, Juvenile-Onset neuroaxonal; dystrophy, Juvenile-Onset neuroaxonal; Juvenile-Onset neuroaxonal dystrophies; Juvenile-Onset neuroaxonal dystrophy; neuroaxonal dystrophies, Juvenile-Onset; neuroaxonal dystrophy, juvenile onset;

CISMeF acronym : PKAN;

Details

Origin ID

D006211;

UMLS CUI

C0018523;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Atypical pantothenate kinase associated neurodegeneration [ICD-11 More detail]
- Chorea due to Neurodegeneration with brain iron accumulation type 1 [ICD-11 More detail]
- Classic pantothenate kinase associated neurodegeneration [ICD-11 More detail]
- Neurodegeneration with brain iron accumulation 3 [OMIM Phenotype]
- Neuroferritinopathy [ORDO Disease]
- Neuroferritinopathy (disorder) [SNOMED CT concept]
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pantothenate-kinase-associated neurodegeneration [ICD-11 More detail]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase 2 [HGNC gene]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- pigmentary pallidal degeneration [Radlex concept]
Currated CISMeF NLP mapping
- Brain Iron Accumulation Type I Syndrome [NCIt 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 [ICD-11 More detail]
- Neurodegeneration with brain iron accumulation 1 [OMIM Phenotype]
- Pantothenate Kinase-Associated Neurodegeneration [NCIt concept]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pigmentary pallidal degeneration [SNOMED Notion]
DO Cross reference
- pantothenate kinase-associated neurodegeneration [DO Concept]
False automatic mappings
- Neurodegeneration with brain iron accumulation [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Aceruloplasminemia [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- HARP syndrome [ORDO Disease]
- Hereditary iron overload with neurologic manifestation [ORDO Disease]
- Huntington disease-like syndrome [ORDO Disease]
- Metabolic disease with dementia [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Neurodegenerative disease with dementia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
Record concept(s)
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
Related MeSH Supplementary Concept(s)
- hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain Iron Accumulation Type I Syndrome [NCIt 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 [NCIt concept]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- pigmentary pallidal degeneration [SNOMED Notion]

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