Hereditary sensory and autonomic neuropathy (HSAN): type III
Evidence-based neurology checklist on hereditary sensory and autonomic neuropathy (hsan): type iii: Genetics This is the most frequent HSAN type It is caused by mutations in the IKBKAP gene on chromosome 9 Almost all cases are eastern European Ashkenazi Jews Autonomic features Dysautonomic crises…
Genetics
- This is the most frequent HSAN type
- It is caused by mutations in the IKBKAP gene on chromosome 9
- Almost all cases are eastern European Ashkenazi Jews
Autonomic features
Dysautonomic crises
Skeletal features
Other features
Magnetic resonance imaging (MRI)
Synonyms
References
- Auer-Grumbach M. Hereditary sensory neuropathy type 1. Orphanet J Rare Dis 2008; 3:7.
- Spring PJ, Kok C, Nicholson GA, et al. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. Brain 2005; 128:2797-2810.
- Axelrod FB, Simson GG. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis 2007; 2:39.
- Rotthier A, Baets J, De Vriendt E, et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 2009; 132:2699-2711.
Related checklists
- Hereditary sensory and autonomic neuropathy (HSAN): classification
- Hereditary sensory and autonomic neuropathy (HSAN): type I
- Hereditary sensory and autonomic neuropathy (HSAN): type II
- Hereditary sensory and autonomic neuropathy (HSAN): type IV
- Hereditary sensory and autonomic neuropathy (HSAN): type V
- Hereditary sensory and autonomic neuropathy (HSAN): type VI
- Hereditary sensory and autonomic neuropathy (HSAN): type VII
- Hereditary sensory and autonomic neuropathy (HSAN): type VIII
