Deafness, X-Linked 1 (DFNX1)

Alias:
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.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
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11
53
18

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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