Deafness, X-Linked 5, with Peripheral Neuropathy (DFNX5)

Deafness, X-Linked 5, with Peripheral Neuropathy(来自ICD-11)

别称:

Deafness, X-Linked 5

Dfnx5

Aunx1

X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1

Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy

X-Linked Hsan with Deafness

X-Linked Deafness 5

X-Linked Hereditary Sensory and Autonomic Neuropathy with Hearing Loss

X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness

X-Linked Auditory Neuropathy 1 with Peripheral Sensory Neuropathy

Deafness, X-Linked, 5, with Peripheral Neuropathy

X-Linked Hsan with Hearing Loss

Deafness, X-Linked, Type 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, X-Linked 5, with Peripheral Neuropathy, also known as deafness, x-linked 5, is related to neuropathy and autosomal dominant nonsyndromic deafness, and has symptoms including tinnitus An important gene associated with Deafness, X-Linked 5, with Peripheral Neuropathy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways are Pentose phosphate pathway and PRPP biosynthesis. Affiliated tissues include skeletal muscle and peripheral nerve, and related phenotypes are hearing impairment and cochlear nerve hypoplasia

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