Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0003134 | Abnormality of peripheral nerve conduction |
| HP:0003405 | Diffuse axonal swelling |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0005949 | Apneic episodes in infancy |
| HP:0005968 | Temperature instability |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0008936 | Axial hypotonia |
