Hereditary sensory and autonomic neuropathy type IIA (Q100555): Difference between revisions
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HSAN tipo IIA é um transtorno autossômico recessivo devido a mutações no gene WNK1. Apresenta-se na primeira infância ou de forma congênita com grave perda sensitiva distal a toque, dor, temperatura, mutilações acrais e disfunção autonômica leve ou assintomática. | |||
| description / en | description / en | ||
HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction. | |||
Revision as of 17:16, 16 August 2026
HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2050984064 |
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| English | Hereditary sensory and autonomic neuropathy type IIA |
HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction. |
