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GTR Home > Conditions/Phenotypes > Hereditary sensory neuropathy-deafness-dementia syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

Synonyms
DNMT1-Related Dementia, Deafness, and Sensory Neuropathy; HSN IE; Hereditary sensory neuropathy type IE; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems comprising a phenotypic spectrum that includes hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). DNMT1 disorder is often characterized by moderate-to-severe sensorineural hearing loss beginning in the teens or early 20s, sensory impairment, sudomotor dysfunction (loss of sweating), and dementia usually beginning in the mid-40s. In some affected individuals, narcolepsy/cataplexy syndrome and ataxia are predominant findings. [from GeneReviews]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI, DNMT1
    Summary: DNA methyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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