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GTR Home > Conditions/Phenotypes > Congenital sensory neuropathy with selective loss of small myelinated fibers

Congenital sensory neuropathy with selective loss of small myelinated fibers

Synonyms
HSAN Type V; Hereditary Sensory and Autonomic Neuropathy Type V; INSENSITIVITY TO PAIN, CONGENITAL
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. [from MedlinePlus Genetics]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Beta-NGF, HSAN5, NGFB, NGF
    Summary: nerve growth factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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