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pantothenate kinase-associated neurodegeneration

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description 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.
Uniprot Description Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI.
Disease Ontology Description A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Mondo Term and Equivalent IDs
MONDO:0009319:  pantothenate kinase-associated neurodegeneration
GARD:0006564: 
MESH:D006211: 
NCIT:C84988: 
Orphanet:157850: 
SCTID:2992000: 
UMLS:C0018523: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)