Disorder | Gene | Clinical features |
HSAN1 | SPTLC1 SPTLC2 ATL1 DNMT1 ATL3 | Most are autosomal dominant |
Onset often in early adulthood but variable | ||
Distal sensory loss, foot ulcers | ||
Preservation of facial sensation | ||
Variable muscle wasting and weakness | ||
Variable neural deafness and dementia | ||
HSAN2 | WNK1/HSN2 FAM134B KIF1A SCN9A | Autosomal recessive |
Loss of pain, temperature, and tactile sensation | ||
Recurrent infection and fractures of the digits | ||
HSAN3 (familial dysautonomia) | IKBKAP | Autosomal recessive |
Progressive sensorimotor neuropathy | ||
Sympathetic autonomic dysfunction | ||
Smooth tongue without fungiform papillae | ||
HSAN4 (congenital insensitivity to pain with anhidrosis) | NTRK1 | Autosomal recessive |
Profound loss of pain sensitivity | ||
Defects in thermoregulation | ||
Anhydrosis | ||
Mild to moderate mental retardation | ||
Microcephaly | ||
Fungiform papillae are present | ||
HSAN5 | NGFB | Autosomal recessive |
Loss of pain and temperature sensation | ||
Normal muscle strength | ||
Normal reflexes | ||
Normal nerve conduction | ||
HSAN6 | DST | Autosomal recessive; Ashkenazi Jewish |
Autonomic dysfunction | ||
Absent fungiform papillae | ||
Death by age 2 years | ||
HSAN7 | SCN11A | Autosomal dominant |
Congenital insensitivity to pain | ||
Self-mutilation, slow wound healing, painless bone fractures | ||
Gastrointestinal dysfunction | ||
Hyperhidrosis | ||
HSAN8 | PRDM12 | Autosomal recessive |
Self-mutilation, insensitivity to pain | ||
Soft tissue injuries | ||
Corneal scarring | ||
Hypohidrosis | ||
HSAN and dementia | PRNP | Autosomal dominant |
Dementia | ||
Autonomic dysfunction | ||
Sensory loss | ||
Hereditary sensory neuropathy with spastic paraplegia | CCT5 | Autosomal recessive |
Spastic paraplegia | ||
Ulcerations of hands and feet | ||
Insensitivity to pain | SCN9A | Autosomal recessive: Insensitivity to pain |
Paroxysmal extreme pain disorder | ||
Primary erythermalgia | Autosomal dominant: Paroxysmal extreme pain disorder Primary erythermalgia Small fiber neuropathy | |
Small fiber neuropathy |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟