Disease ID | Source | Name | Description |
223900 | OMIM | Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) | A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. The disease is caused by variants affecting the gene represented in this entry. |