hereditary sensory and autonomic neuropathy type 7

Term ID

DOID:0070149

Synonyms

• hereditary sensory and autonomic neuropathy type VII
• HSAN7

Definition

A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/24036948

References

• GARD:12732
• MIM:615548
• NCI:C125388
• ORDO:391397
• SNOMEDCT_US_2025_09_01:783550006
• UMLS_CUI:C3809882

Ontology

Human Disease   ( DOID:0070149 )