Deafness, X-Linked 1 (DFNX1)

Deafness, X-Linked 1(来自ICD-11)

别称:

Dfnx1

Dfn2

X-Linked Deafness 1

Deafness, X-Linked 2, Sensorineural Congenital

X-Linked Sensorineural Congenital Deafness 2

Congenital Sensorineural Deafness X-Linked 2

Deafness, X-Linked, Type 1

Hearing Loss, X-Linked 1

Deafness, X-Linked, 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, X-Linked 1, also known as dfnx1, is related to deafness, x-linked 3 and sensorineural hearing loss. An important gene associated with Deafness, X-Linked 1 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Pentose phosphate pathway and Nucleotide metabolism. Related phenotype is sensorineural hearing impairment.

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