Congenital insensitivity to pain with anhidrosis
| Disorder | |
|---|---|
| OMIM #: | #256800 (Click to access OMIM database) |
| Disorder: | Congenital insensitivity to pain with anhidrosis |
| Also known as: | NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV HSAN4 HSAN IV FAMILIAL DYSAUTONOMIA, TYPE II |
| Clinical | |
| Phenotype: | insensitivity to pain, temperature insensitivity, developmental delay, peripheral neuropathy, autonomic dysfunction, anhidrosis, corneal defects, acral ulceration, osteomyelitis, delayed wound healing |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | NTRK1 |
| Base Change: | c.1251+1G>A |
| Amino Acid Change: | |
| Last updated: | 2022-11-03 |
| References |
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