Search for a rare disease

*(*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

Disease definition

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spastic paraplegia type 49
    • HSAN due to TECPR2 mutation
    • SPG49
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.4
  • OMIM: 615031
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.