hereditary motor and sensory neuropathy
Findings
No curated finding names hereditary motor and sensory neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Definition from the Mondo Disease Ontology (MONDO:0015358), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MFN2HGNC:16877
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
- Narrower terms (8)
- autosomal dominant slowed nerve conduction velocity
- demyelinating hereditary motor and sensory neuropathy
- hereditary motor and sensory neuropathy type 6
- hereditary motor and sensory neuropathy with acrodystrophy
- hereditary sensorimotor neuropathy with hyperelastic skin
- hereditary thermosensitive neuropathy
- polyneuropathy-hand defect syndrome
- severe early-onset axonal neuropathy due to MFN2 deficiency
Other names
1 name
Resolves to: hereditary motor and sensory neuropathy
- Also called
- HMSN