neuropathy, hereditary sensory and autonomic, type 2A

Rare Disease

MONDO:0024309

Also Known As

HSAN 2AHSAN2AHSN 2Ahereditary sensory and autonomic neuropathy type IIAneuropathy, hereditary sensory and autonomic, type IIneuropathy, hereditary sensory and autonomic, type IIAneuropathy, hereditary sensory, type 2AMorvan diseaseacroosteolysis, Giaccai typeacroosteolysis, neurogenichereditary sensory and autonomic neuropathy type 2Aneuropathy, congenital sensoryneuropathy, hereditary sensory radicular, autosomal recessiveneuropathy, progressive sensory, of children

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