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hereditary sensory neuropathy type 1F
Summary
- Synonym
-
- HSN1F
- hereditary sensory neuropathy type IF
- Definition
- A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.
- Super Class
- autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
- Disease Ontology
- DOID:0070154
- 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 |
