Hereditary Sensory and Autonomic Neuropathy
Familial dysautonomia carrier frequency is about 1 in 30 to 1 in 36 in people of Ashkenazi Jewish ancestry.
A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.
What a diagnosis changes
Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).
Genes analysed
Also known as
hereditary sensory autonomic neuropathy; hereditary sensory neuropathy; hereditary sensory peripheral neuropathy; HSAN
Includes 32 related subtypes ↓Hide subtypes ↑
- cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- channelopathy-associated congenital insensitivity to pain, autosomal recessive
- cold-induced sweating syndrome
- cold-induced sweating syndrome - hyperthermia spectrum
- Cold-induced sweating syndrome 1
- cold-induced sweating syndrome 2
- congenital insensitivity to pain
- congenital insensitivity to pain syndrome, Marsili type
- congenital insensitivity to pain with hyperhidrosis
- congenital insensitivity to pain with severe intellectual disability
- congenital insensitivity to pain-hypohidrosis syndrome
- hereditary sensory and autonomic neuropathy type 1
- hereditary sensory and autonomic neuropathy type 2
- hereditary sensory and autonomic neuropathy type 4
- hereditary sensory and autonomic neuropathy type 5
- hereditary sensory and autonomic neuropathy type 6
- hereditary sensory and autonomic neuropathy type 7
- hereditary sensory neuropathy X-linked
- hereditary sensory neuropathy-deafness-dementia syndrome
- hereditary spastic paraplegia 49
- neuropathy, hereditary sensory and autonomic, type 1A
- neuropathy, hereditary sensory and autonomic, type 1C
- neuropathy, hereditary sensory and autonomic, type 2A
- neuropathy, hereditary sensory and autonomic, type 2B
- neuropathy, hereditary sensory, atypical
- neuropathy, hereditary sensory, type 1D
- neuropathy, hereditary sensory, type 1F
- neuropathy, hereditary sensory, type 2C
- PERCHING syndrome
- polyneuropathy-hand defect syndrome
- Riley-Day syndrome
- X-linked hereditary sensory and autonomic neuropathy with hearing loss
