Disease ID | Source | Name | Description |
615632 | OMIM | Neuropathy, hereditary sensory, 1F (HSN1F) | An autosomal dominant sensory neuropathy affecting the lower limbs. 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. There is no autonomic involvement, spasticity, or cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |