Table 1.

Diseases with a thermosensory and/or mechanosensory phenotype

Disease	Thermosensory/mechanosensory phenotype	Reference
Stüve–Wiedemann syndrome/neonatal Schwartz–Jampel syndrome type 2	Temperature instability, excessive sweating, reduced pain sensation	(46,47)
Tangier disease	Widespread loss of pain and temperature sensation	(63–69)
Charcot–Marie–Tooth disease	Decreased sensation of pain and vibration in feet	(70)
Neuropathy type I/HSAN1	Loss of pain and temperature sensation in thighs and hands; sensory dysfunction	(71–76)
Neuropathy type III/HSAN3/Riley–Day syndrome/familial dysautonomia	Indifference to pain and temperature	(77,78)
Spinocerebellar ataxia 6	Impaired temperature discrimination	(79–81)
Machado–Joseph disease/spinocerebellar ataxia 3	Impaired temperature discrimination	(82)
Neuropathy, hereditary sensory and autonomic type 2/HSAN2/Morvan disease	Loss of pain sensation, diminished touch and temperature sense	(83–87)
Insensitivity to pain, congenital, with anhidrosis/ HSAN4	High pain threshold and heat intolerance	(88–92)
Neuropathy, hereditary sensory and autonomic/HSAN5/insensitivity to pain, congenital	Loss of pain and thermal sensation in extremities	(93,94)
Spinocerebellar ataxia	Decreased vibration sensation	(81,82)
Charcot–Marie–Tooth disease	Decreased sensation of pain and vibration in feet	(70)
Spastic paraplegia 27	Decrease of vibration sensation in feet	(95)
Neuropathy	Distal sensory loss; loss of pain, touch, heat and cold sensation in feet	(71,72)
Freidreich ataxia 1	Impaired vibration sense	(96)
Fabry disease	Decreased vibration sense	(97)
Masa syndrome	Less sensitive to touch and pain (mice)	(98)
Kanzaki disease	Impairment of all sensory modalities in the distal extremities	(99)
BBS	Decreased thermo- and mechanosensation	(18)
PWS	High pain threshold	(43)