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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:0003693 | Distal amyotrophy |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0010829 | Impaired temperature sensation |
| HP:0001058 | Poor wound healing |
| HP:0007078 | Decreased amplitude of sensory action potentials |
| HP:0200042 | Skin ulcer |
| HP:0002756 | Pathologic fracture |
| HP:0000962 | Hyperkeratosis |
| HP:0002936 | Distal sensory impairment |
| HP:0009027 | Foot dorsiflexor weakness |
