neurodegeneration with brain iron accumulation 6
Findings
No curated finding names neurodegeneration with brain iron accumulation 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014290), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Motor axonal neuropathyHPOHP:0007002
- 2 of 2 reported patients
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.
- COASYHGNC:29932
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
6 names
Resolves to: neurodegeneration with brain iron accumulation 6
- Also called
- COASY neurodegeneration with brain iron accumulationCoPANNBIA6neurodegeneration with brain iron accumulation caused by mutation in COASYneurodegeneration with brain iron accumulation due to COASY mutationneurodegeneration with brain iron accumulation type 6