Neuropathy, hereditary sensory and autonomic, type 2A

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

Also known as HSAN 2A, HSAN2A, HSN 2A, neuropathy, hereditary sensory and autonomic, type II, neuropathy, hereditary sensory and autonomic, type IIA, neuropathy, hereditary sensory, type 2A — per MONDO

Also identified as

• DOID 0070155 per MONDO
• OMIM 201300 per MONDO
• UMLS C2752089 per MONDO