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

Alias:

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

Related ID：

MALACARDS：DFN380

OMIM：300614

MESH：D006319