Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant ("SPTLC1" and "RAB7") and five genes for autosomal recessive forms of HSAN ("WNK1/HSN2," "NTRK1," "NGFB," "CCT5" and "IKBKAP"). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN. In addition, we screened the functional candidate gene "NGFR" ("p75/NTR") encoding the nerve growth factor receptor. We identified disease-causing mutations in "SPTLC1," "RAB7," "WNK1"/"HSN2" and "NTRK1" in 19 patients, of which three mutations have not previously been reported. The phenotypes associated with mutations in "NTRK1" and "WNK1"/"HSN2" typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. "RAB7" mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensory-motor neuropathy with pronounced ulcero-mutilations. In "SPTLC1," we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. No mutations were found in "NGFB," "CCT5" and "NGFR". Overall disease-associated mutations were found in 19% of the studied patient group, suggesting that additional genes are associated with HSAN. Our genotype-phenotype correlation study broadens the spectrum of HSAN and provides additional insights for molecular and clinical diagnosis.