Details of Disease

General Information of Disease (ID: DIS4BRAY)

• Disease Name: Neurodegeneration with brain iron accumulation 4
• Synonyms: mitochondrial membrane protein-associated neurodegeneration; NBIA due to C19orf12 mutation; neurodegeneration with brain iron accumulation type 4; neurodegeneration with brain iron accumulation 4; MPAN; neurodegeneration with brain iron accumulation caused by mutation in C19orf12; mitochondrial Protein-associated neurodegeneration; C19orf12 neurodegeneration with brain iron accumulation; NBIA4; neurodegeneration with brain iron accumulation due to C19orf12 mutation
• Definition: Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.
• Disease Hierarchy:
  DISRK4DZ: Neurodegeneration with brain iron accumulation
  DIS4BRAY: Neurodegeneration with brain iron accumulation 4
• Disease Identifiers:
  MONDO ID: MONDO_0013674
  UMLS CUI: C3280371
  OMIM ID: 614298
  MedGen ID: 482001
  Orphanet ID: 289560
  SNOMED CT ID: 709415008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C19orf12	OTVSJ1AR	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.