Neuropathy, Hereditary Sensory, Type Ie (HSN1E)

Neuropathy, Hereditary Sensory, Type Ie(来自ICD-11)

别称:

Hsn1e

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Neuropathy, Hereditary Sensory, Type I

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsn Ie

Hsan1e

Neuropathy, Hereditary Sensory, with Hearing Loss and Dementia

Neuropathy Hereditary Sensory with Hearing Loss and Dementia

Hereditary Sensory and Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory Neuropathy Type I

Hereditary Sensory Neuropathy Type 1

Neuropathy, Hereditary Sensory, 1e

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Sensory, Type Ie, also known as hsn1e, is related to hereditary sensory and autonomic neuropathy type 1 and neuropathy, hereditary sensory and autonomic, type ia. An important gene associated with Neuropathy, Hereditary Sensory, Type Ie is DNMT1 (DNA Methyltransferase 1), and among its related pathways/superpathways are Transcriptional activation of mitochondrial biogenesis and Energy metabolism. The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include brain and peripheral nerve, and related phenotypes are sensory neuropathy and dementia

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