Gene: [09q22/HSN1] hereditary sensory neuropathy, type 1; [HSAN1 ]
COM |
The HSN1 gene was mapped to an 8-cM region flanked by D9S318 and D9S176 on 9q22.1-q22.3 (Nicholson-1996)." |
PAT |
The main symptoms are: lightning pains, painless skin injuries and ulceration, distal sensory loss to sharp, hot and cold sensation with loss of distal reflexes, distal muscle wasting and progressing deafness." |
CAG |
The locus for type III of hereditary sensory autonomic neuropathy (Riley-Day dysautonomia) is mapped to another region of the same chromosome: GEM:09q3/DYS." |
REF |
PAT,FOG "Danon MJ, Carpenter S: Neurology, 35, 1226-1229, 1985 PAT,FOG "Heller IH, Robb P: Neurology, 5, 15-29, 1955 PAT,LOC,LIN "Nicholson GA &: Nature Genet, 13, 101-104, 1996 |
KEY |
neu |
CLA |
unknown, basic |
LOC |
09 q22.1-.3 |
MIM |
MIM: 162400 |
SYN |
HSAN1 |