hereditary sensory and autonomic neuropathy type 2

Term ID

DOID:0070161

Synonyms

• hereditary sensory and autonomic neuropathy type II
• hereditary sensory neuropathy type 2
• hereditary sensory neuropathy type II
• HSAN2
• HSN2

Definition

A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis. (2)

References

• GARD:3976
• ORDO:970
• SNOMEDCT_US_2025_09_01:398148000
• UMLS_CUI:C0020072

Ontology

Human Disease   ( DOID:0070161 )