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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:0001284 | Areflexia |
| HP:0007267 | Chronic axonal neuropathy |
| HP:0001761 | Pes cavus |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000518 | Cataract |
| HP:0003448 | Decreased sensory nerve conduction velocity |
| HP:0002378 | Hand tremor |
