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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002020 | Gastroesophageal reflux |
| HP:0012735 | Cough |
| HP:0002540 | Inability to walk |
| HP:0007002 | Motor axonal neuropathy |
| HP:0000365 | Hearing impairment |
| HP:0002821 | Neuropathic arthropathy |
| HP:0007550 | Hypohidrosis or hyperhidrosis |
| HP:0001324 | Muscle weakness |
| HP:0010834 | Trophic changes related to pain |
| HP:0002460 | Distal muscle weakness |
