Details of Disease

General Information of Disease (ID: DISZ4EN1)

• Disease Name: Hereditary motor and sensory neuropathy, Okinawa type
• Synonyms: HMSNO; neuropathy, hereditary motor and sensory, Okinawa type; hereditary motor and sensory neuropathy, proximal type, formerly; hereditary motor and sensory neuropathy, proximal type; HMSNP
• Definition: Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DISVNBSJ: Motor peripheral neuropathy
  DISZ4EN1: Hereditary motor and sensory neuropathy, Okinawa type
• Disease Identifiers:
  MONDO ID: MONDO_0011468
  MESH ID: C535717
  UMLS CUI: C1858338
  OMIM ID: 604484
  MedGen ID: 346886
  Orphanet ID: 90117
  SNOMED CT ID: 715665006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TFG	OT2KJENI	Strong	Autosomal dominant	[1]

References

• [1] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet. 2012 Aug 10;91(2):320-9. doi: 10.1016/j.ajhg.2012.07.014.