neurodegeneration with brain iron accumulation 4
Findings
No curated finding names neurodegeneration with brain iron accumulation 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013674), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Optic atrophyHPOHP:0000648
- 20 of 23 reported patients
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- 14 of 18 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 17 of 24 reported patients
- Very frequent (80% to 99% of cases)
- Hand tremorHPOHP:0002378
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- C19orf12HGNC:25443
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Illumina · Semidominant · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Moderate · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
8 names
Resolves to: neurodegeneration with brain iron accumulation 4
- Also called
- C19orf12 neurodegeneration with brain iron accumulationmitochondrial Protein-associated neurodegenerationMPANNBIA due to C19orf12 mutationNBIA4neurodegeneration with brain iron accumulation caused by mutation in C19orf12neurodegeneration with brain iron accumulation due to C19orf12 mutationneurodegeneration with brain iron accumulation type 4