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hereditary sensory and autonomic neuropathy type 1A
Summary
- Synonym
-
- HSAN1A
- hereditary sensory and autonomic neuropathy type IA
- Definition
- A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
- Super Class
- autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
- Disease Ontology
- DOID:0070152
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54826 | Growth arrest-specific protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000962 | Hyperkeratosis |
| HP:0001026 | Penetrating foot ulcers |
| HP:0001058 | Poor wound healing |
| HP:0001324 | Muscle weakness |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002141 | Gait imbalance |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0002460 | Distal muscle weakness |
| HP:0002540 | Inability to walk |
