neurodegeneration with brain iron accumulation 2A
MONDO:0024457Mondo
Findings
No curated finding names neurodegeneration with brain iron accumulation 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
56 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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- GliosisHPOHP:0002171
- 1 of 1 reported patient
- Iron accumulation in brainHPOHP:0012675
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- 5 of 6 reported patients
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- Psychomotor deteriorationHPOHP:0002361
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- 4 of 6 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormality of peripheral nerve conductionHPOHP:0003134
- Frequent (30% to 79% of cases)
Show the remaining 44
- Abnormality of visual evoked potentialsHPOHP:0000649
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- Bulbar signsHPOHP:0002483
- Frequent (30% to 79% of cases)
- Cerebellar gliosisHPOHP:0012698
- Frequent (30% to 79% of cases)
- Diffuse axonal swellingHPOHP:0003405
- Frequent (30% to 79% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- 2 of 6 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.
- PLA2G6HGNC:9039
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: neurodegeneration with brain iron accumulation 2A
- Also called
- INADinfantile neuroaxonal dystrophyNBIA2Aneurodegeneration with brain iron accumulation type 2Aneurodegeneration, PLA2G6-associatedphospholipase A2-associated neurodegenerationPLAN