Details of Disease

General Information of Disease (ID: DISZUO5O)

• Disease Name: Neurodegeneration with brain iron accumulation 6
• Synonyms: COASY protein-associated neurodegeneration; neurodegeneration with brain iron accumulation 6; neurodegeneration with brain iron accumulation type 6; CoPAN; neurodegeneration with brain iron accumulation caused by mutation in COASY; COASY neurodegeneration with brain iron accumulation; NBIA6; neurodegeneration with brain iron accumulation due to COASY mutation
• Definition: COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
• Disease Hierarchy:
  DISRK4DZ: Neurodegeneration with brain iron accumulation
  DISZUO5O: Neurodegeneration with brain iron accumulation 6
• Disease Identifiers:
  MONDO ID: MONDO_0014290
  UMLS CUI: C4517377
  OMIM ID: 615643
  MedGen ID: 1387791
  Orphanet ID: 397725
  SNOMED CT ID: 732264002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COASY	TT4YO0Z	Strong	Autosomal recessive	[1]
COASY	TT4YO0Z	Definitive	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COASY	OTBEPPMS	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Mutational analysis of COASY in an Italian patient with NBIA.Parkinsonism Relat Disord. 2016 Jul;28:150-1. doi: 10.1016/j.parkreldis.2016.03.011. Epub 2016 Mar 18.