MCID: DFN002
MIFTS: 8

Dfnx1 Nonsyndromic Hearing Loss and Deafness

Categories: Ear diseases

Aliases & Classifications for Dfnx1 Nonsyndromic Hearing Loss and Deafness

MalaCards integrated aliases for Dfnx1 Nonsyndromic Hearing Loss and Deafness:

Name: Dfnx1 Nonsyndromic Hearing Loss and Deafness 24
Dfn2 Nonsyndromic Hearing Loss Deafness 24

Classifications:



Summaries for Dfnx1 Nonsyndromic Hearing Loss and Deafness

MalaCards based summary : Dfnx1 Nonsyndromic Hearing Loss and Deafness, also known as dfn2 nonsyndromic hearing loss deafness, is related to deafness, x-linked 1 and branchiootic syndrome 1. An important gene associated with Dfnx1 Nonsyndromic Hearing Loss and Deafness is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1).

GeneReviews: NBK57098

Related Diseases for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Diseases related to Dfnx1 Nonsyndromic Hearing Loss and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 1 10.4
2 branchiootic syndrome 1 10.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 nonsyndromic deafness 10.4
5 sensorineural hearing loss 10.4
6 x-linked non-syndromic sensorineural deafness type dfn 10.4

Graphical network of the top 20 diseases related to Dfnx1 Nonsyndromic Hearing Loss and Deafness:



Diseases related to Dfnx1 Nonsyndromic Hearing Loss and Deafness

Symptoms & Phenotypes for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Drugs & Therapeutics for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Search Clinical Trials , NIH Clinical Center for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Anatomical Context for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Publications for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Articles related to Dfnx1 Nonsyndromic Hearing Loss and Deafness:

(show all 12)
# Title Authors PMID Year
1
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention. 4
27886419 2016
2
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. 4
25785835 2015
3
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 4
25182139 2015
4
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 4
25491489 2014
5
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 4
24528855 2014
6
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. 4
23190330 2013
7
PRPS1 mutations: four distinct syndromes and potential treatment. 4
20380929 2010
8
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 4
20021999 2010
9
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). 4
17701900 2007
10
Arts syndrome is caused by loss-of-function mutations in PRPS1. 4
17701896 2007
11
Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method. 4
8646809 1996
12
DFNX1 Nonsyndromic Hearing Loss and Deafness 38
21834172 2011

Variations for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Expression for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Search GEO for disease gene expression data for Dfnx1 Nonsyndromic Hearing Loss and Deafness.

Pathways for Dfnx1 Nonsyndromic Hearing Loss and Deafness

GO Terms for Dfnx1 Nonsyndromic Hearing Loss and Deafness

Sources for Dfnx1 Nonsyndromic Hearing Loss and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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