FAQ

DEAFNESS, X-LINKED 1 (disorder)

Known as: Deafness, X-Linked 1, DFNX1, DFN2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1996-2014
01219962014

Related topics

Related topics

3 relations

Broader (2)

Genetic Diseases, X-LinkedSensorineural Hearing Loss (disorder)
X-linked inheritance

Related mentions per year

Related mentions per year

1938-2018
19401960198020002020
DEAFNESS, X-LINKED 1 (disorder)
X-linked inheritance
Sensorineural Hearing Loss (disorder)
Genetic Diseases, X-Linked

Papers overview

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2015
2015
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated… (More)
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2014
2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
BACKGROUND Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in… (More)
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Review
2012
Review
2012
Nonsyndromic X-linked hearing loss.
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until recently, four loci (DFN2, DFN3… (More)
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2010
2010
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval… (More)
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Review
2010
Review
2010
PRPS1 mutations: four distinct syndromes and potential treatment.
Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell… (More)
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2004
2004
Refinement of the locus for non-syndromic sensorineural deafness (DFN2)
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary… (More)
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2002
2002
Clinical phenotype of DFN2, DFN4 and DFN6.
 
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1996
1996
Mapping of DFN2 to Xq22.
Non-syndromic X-linked deafness is a rare form of genetic deafness accounting for a small proportion of all hereditary hearing… (More)
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