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Term:
pantothenate kinase-associated neurodegeneration (EFO:MONDO:0009319)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 
aceruloplasminemia 
Barth syndrome 
chorea-acanthocytosis 
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 
fatty acid hydroxylase-associated neurodegeneration 
GM3 synthase deficiency 
hereditary sensory and autonomic neuropathy type 1 +  
hereditary spastic paraplegia 39 
Huntington disease-like 2 
Kufor-Rakeb syndrome +  
McLeod neuroacanthocytosis syndrome 
megaconial type congenital muscular dystrophy 
neurodegeneration with brain iron accumulation 4 
neurodegeneration with brain iron accumulation 5 
neurodegeneration with brain iron accumulation 6 
neurodegeneration with brain iron accumulation 8 
neuroferritinopathy 
neutral lipid storage disease +  
pantothenate kinase-associated neurodegeneration +  
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.
PHARC syndrome 
PLA2G6-associated neurodegeneration +  
progressive encephalopathy with leukodystrophy due to DECR deficiency 
Sengers syndrome 
Sjogren-Larsson syndrome 
Woodhouse-Sakati syndrome 

Synonyms
Exact Synonyms: Hallervorden-Spatz disease ;   Hallervorden-Spatz syndrome ;   NBIA1 ;   PKAN ;   brain iron accumulation type I syndrome ;   neurodegeneration with brain iron accumulation 1 ;   neurodegeneration with brain iron accumulation type 1 ;   pigmentary pallidal degeneration
Related Synonyms: Pkan neuroaxonal dystrophy, juvenile-onset ;   neuroaxonal dystrophy, late infantile
Alternate IDs: MONDO:0009319
Xrefs: DOID:3981 ;   GARD:6564 ;   ICD9:333.0 ;   MEDGEN:6708 ;   MESH:D006211 ;   MIM:234200 ;   NANDO:1200534 ;   NANDO:2200886 ;   NCI:C84988 ;   NORD:1550 ;   ORDO:157850 ;   SCTID:2992000 ;   UMLS:C0018523
Definition Sources: Orphanet:157850

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