Preferred Label : Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : For a phenotypic description and a discussion of genetic heterogeneity of hereditary
sensory and autonomic neuropathy, see HSAN1 (162400). Sakae et al. (2001) reported
3 Japanese sibs, 1 male and 2 females, who were affected with an adult-onset form
of sensory and autonomic neuropathy. The proband, the most severely affected of the
sibs, noticed difficulty in smelling and tasting around the age of 24 years and loss
of sweating at age 40 years. Also in her forties, she developed loss of sensation
in the hands and feet. Physical examination showed severe anosmia, ageusia, anhidrosis,
and orthostatic hypotension. Both superficial and deep sensation were severely impaired
in the fingers and toes, and a sural nerve biopsy showed marked loss of myelinated
fibers and axonal degeneration. Her 2 sibs developed anosmia and subsequent anhidrosis
around age 50 years. Both also showed orthostatic hypotension, but only 1 sib had
decreased distal sensation. Both had normal taste sensation. Sakae et al. (2001) characterized
the disorder as a distinct form of hereditary sensory and autonomic neuropathy, and
suggested that there may be a causative gene involved in the survival of sensory and
sympathetic ganglion cells. *FIELD* RF 1. Sakae, N.; Yamada, T.; Arakawa, K.; Taniwaki,
T.; Ohyagi, Y.; Furuya, H.; Ohnishi, A.; Kira, J.: Adult-onset hereditary sensory
and autonomic neuropathy accompanied by anosmia but without skin ulceration. Acta
Neurol. Scand. 104: 316-319, 2001. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 608720;
Origin ID : 608720;
UMLS CUI : C1837492;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
