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GENATLAS PHENOTYPE

last update : 03-01-2019

Symbol	HMSNP
Location	3q12.3
Name	hereditary motor and sensory neuropathy, proximal
Other name(s)	neuropathy, hereditary motor and sensory, Okinawa type
Corresponding gene	TFG
Other symbol(s)	HMSNO
Main clinical features	adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus
Genetic determination	autosomal dominant
Related entries	including infantile neuroaxonal dystrophy (INAD) (PMID: 29971521)
Function/system disorder	neurology
Type	disease

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