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GTR Home > Conditions/Phenotypes > Neuropathy, hereditary sensory and autonomic, type 2B

Neuropathy, hereditary sensory and autonomic, type 2B

Synonyms
Hereditary sensory and autonomic neuropathy type IIB

Summary

Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease. [from GeneReviews]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FAM134B, JK-1, JK1, RETREG1
    Summary: reticulophagy regulator 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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