pantothenate kinase-associated neurodegeneration

Term ID

DOID:3981

Synonyms

• brain Iron Accumulation type I syndrome
• Hallervorden-Spatz disease
• Hallervorden-Spatz syndrome
• NBIA1
• neurodegeneration with brain iron accumulation 1
• Pigmentary pallidal degeneration

Definition

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration

References

• GARD:6564
• ICD10CM:G23.0
• MESH:D006211
• NCI:C8967
• OMIM:234200
• ORDO:157850
• SNOMEDCT_US_2023_03_01:2992000
• UMLS_CUI:C0018523

Ontology

Human Disease   ( DOID:3981 )