hereditary sensory and autonomic neuropathy type 2A
ORPHA: 970
Overview
hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hereditary sensory and autonomic neuropathy type 2A, sourced from HPO and Orphanet clinical annotations.
HyperhidrosisTapered fingerDystrophic toenailFoot acroosteolysisWormian bonesOsteolysisAbnormality of the kneeAbnormality of the ankleAbnormal cortical bone morphologySkeletal muscle atrophyAbnormal hip bone morphologyHyperlordosisReduced bone mineral densityAbnormal epiphysis morphologyDystrophic fingernails
Classification & Codes
Orphanet Code
ORPHA:970hereditary sensory and autonomic neuropathy type 2A
| Orphanet | ORPHA:970 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO