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neurodegeneration with brain iron accumulation 2a
Summary
- Synonym
-
- INAD1
- Infantile Neuroaxonal Dystrophy 1
- NBIA2a
- Neurodegeneration, Pla2g6-Associated
- Seitelberger Disease
- 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 and is characterized by onset in the first 2 years of life.
- Super Class
- autosomal recessive disease neurodegeneration with brain iron accumulation
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4668 | NAGA | alpha-N-acetylgalactosaminidase | |
| 5319 | PLA2G1B | phospholipase A2 group IB | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 57016 | AKR1B10 | aldo-keto reductase family 1 member B10 | |
| 151056 | PLB1 | phospholipase B1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| P17050 | Alpha-N-acetylgalactosaminidase | |
| P47712 | Cytosolic phospholipase A2 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
- The Human Phenotype Ontology
| 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 |
