neuropathy, hereditary sensory and autonomic, type 2A
Findings
No curated finding names neuropathy, hereditary sensory and autonomic, type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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
Definition from the Mondo Disease Ontology (MONDO:0024309), read 2026-09-29. CC BY 4.0.
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnhidrosisHPOHP:0000970
- AreflexiaHPOHP:0001284
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WNK1HGNC:14540
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Ambry Genetics · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: neuropathy, hereditary sensory and autonomic, type 2A
- Also called
- HSAN 2AHSAN2AHSN 2Aneuropathy, hereditary sensory and autonomic, type IIneuropathy, hereditary sensory and autonomic, type IIAneuropathy, hereditary sensory, type 2A