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Neuropathy, hereditary sensory and autonomic, type 2A

Synonyms
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; Hereditary sensory and autonomic neuropathy type IIA; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA

Summary

Excerpted from the GeneReview: Hereditary Sensory and Autonomic Neuropathy Type II
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.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ingo Kurth
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Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATSV, C2orf20, HSN2C, MRD9, NESCAVS, SPG30, SPG30A, SPG30B, UNC104, KIF1A
    Summary: kinesin family member 1A

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

  • Also known as: ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP, SCN9A
    Summary: sodium voltage-gated channel alpha subunit 9

  • Also known as: HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65, WNK1
    Summary: WNK lysine deficient protein kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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