neurodegeneration with brain iron accumulation 2b

Summary
Synonym
  • NBIA2b
  • Neuroaxonal Dystrophy, Atypical
  • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Definition
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.
Super Class
autosomal recessive disease neurodegeneration with brain iron accumulation
External Links
Disease Ontology
DOID:0110736
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
5319 PLA2G1B phospholipase A2 group IB
8398 PLA2G6 phospholipase A2 group VI
57016 AKR1B10 aldo-keto reductase family 1 member B10
151056 PLB1 phospholipase B1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 67 in total
HPO ID HPO Term
HP:0000486 Strabismus
HP:0000618 Blindness
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000649 Abnormality of visual evoked potentials
HP:0000708 Atypical behavior
HP:0000712 Emotional lability
HP:0000729 Autistic behavior
HP:0000736 Short attention span
HP:0000750 Delayed speech and language development
Displaying 1 entry
Gene ID Gene Symbol Description
8398 PLA2G6 phospholipase A2 group VI

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024