FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Human Disease Model Report: neurodegeneration with brain iron accumulation 2A
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General Information
Name
neurodegeneration with brain iron accumulation 2A
FlyBase ID
FBhh0000231
Disease Ontology Term
Parent Disease
OMIM
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
Overview

NBIA2A is a subtype of neurodegeneration with brain iron accumulation (FBhh0000223). It is one of several diseases associated with the human gene PLA2G6. See the human disease model report for neurodegenerative disease, PLA2G6-related (FBhh0000243).

[updated Apr. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: neurodegeneration with brain iron accumulation
Symptoms and phenotype

Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009; pubmed:18981035). [from MIM:234200; 2016.03.29]

(OMIM, 2013-)
Specific Disease Summary: neurodegeneration with brain iron accumulation 2A
OMIM report

[NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A](https://omim.org/entry/256600)

Human gene(s) implicated

[PHOSPHOLIPASE A2, GROUP VI; PLA2G6](https://omim.org/entry/603604)

Symptoms and phenotype

See general description above. Neurodegeneration with brain iron accumulation 2A (NBIA2A) is characterized by onset in the first 2 years of life. NBIA2A exhibits earlier onset and a more homogeneous phenotype than NBIA2B (MIM:610217). [from MIM:256600, MIM:610217; 2016.04.05]

(OMIM, 2013-)
Genetics

NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene (phospholipase A2, group VI). [from MIM:256600; 2016.04.05]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
INAD
INAD1
infantile neuroaxonal dystrophy
NBIA2A
neurodegeneration, PLA2G6-associated
PLAN
Seitelberger disease
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
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        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
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        Publicly Available Stocks
        References (5)