유전성 감각 및 자율신경병증
아슈케나지 유대인 혈통에서 가족성 자율신경이상증 보인자 빈도는 약 30명 중 1명에서 36명 중 1명입니다.
가족성 자율신경이상증(ELP1), HSAN1(SPTLC1/SPTLC2), HSAN2(WNK1, RETREG1), 선천성 통증 무감각증(NTRK1, SCN9A, PRDM12)을 포함하는 신경병증군입니다. 대부분은 열성 유전이며, HSAN1만 우성 유전입니다.
진단이 달라지는 점
알아차리지 못한 부상, 화상, 감염으로부터의 보호, 자율신경 증상의 관리, 그리고 가족을 위한 보인자 검사(가족성 자율신경이상증은 아슈케나지 유대인 보인자 선별검사에 포함됩니다)를 권장합니다.
분석 유전자
다른 명칭
hereditary sensory autonomic neuropathy; hereditary sensory neuropathy; hereditary sensory peripheral neuropathy; HSAN
관련 하위 유형 32개 포함 ↓하위 유형 숨기기 ↑
- 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
