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GTR Home > Conditions/Phenotypes > Giant axonal neuropathy 2

Giant axonal neuropathy 2

Synonyms
Giant axonal neuropathy 2, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014). [from OMIM]

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GAN2, H326, WDR42A, DCAF8
    Summary: DDB1 and CUL4 associated factor 8

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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