DFNX3
MCID: DFN146
MIFTS: 27

Deafness, X-Linked 3 (DFNX3)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, X-Linked 3

MalaCards integrated aliases for Deafness, X-Linked 3:

Name: Deafness, X-Linked 3 57 13 70
X-Linked Deafness 3 12 15
Dfnx3 57 12
Dfn4 57 12
Deafness, X-Linked 4, Congenital Sensorineural; Dfn4 57
Deafness, X-Linked 4, Congenital Sensorineural 57
Congenital Sensorineural X-Linked Deafness 4 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked form


HPO:

31
deafness, x-linked 3:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111736
OMIM® 57 300030
OMIM Phenotypic Series 57 PS304500
MedGen 41 C3888089
SNOMED-CT via HPO 68 700453005
UMLS 70 C3888089

Summaries for Deafness, X-Linked 3

Disease Ontology : 12 An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has material basis in mutation in a region on chromosome Xp21.2.

MalaCards based summary : Deafness, X-Linked 3, also known as x-linked deafness 3, is related to nonsyndromic hearing loss and sensorineural hearing loss. An important gene associated with Deafness, X-Linked 3 is DFNX3 (Deafness, X-Linked 3), and among its related pathways/superpathways is Pentose phosphate pathway. Related phenotype is congenital sensorineural hearing impairment.

More information from OMIM: 300030 PS304500

Related Diseases for Deafness, X-Linked 3

Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 6 Deafness, X-Linked 7
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Deafness, X-Linked 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 29.6 TRIOBP PRPS1 POU3F4
2 sensorineural hearing loss 28.0 TRIOBP TPRN SMPX PRPS1 POU3F4 COL4A6
3 charcot-marie-tooth disease, x-linked dominant, 6 10.1 SMPX PRPS1
4 charcot-marie-tooth disease type 5 10.1 PRPS1L1 PRPS1
5 deafness, autosomal dominant 51 10.1 TPRN SMPX
6 deafness, autosomal dominant 3b 10.1 TPRN SMPX
7 deafness, autosomal recessive 79 10.1 TPRN SMPX
8 deafness, autosomal dominant 20 10.1 TPRN SMPX
9 branchiootic syndrome 1 10.1
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 phosphoribosylpyrophosphate synthetase superactivity 10.0 PRPS1L1 PRPS1
12 purine-pyrimidine metabolic disorder 10.0 PRPS1L1 PRPS1
13 mohr-tranebjaerg syndrome 10.0 SMPX POU3F4
14 hereditary hearing loss and deafness 10.0 SMPX PRPS1 POU3F4
15 brown-vialetto-van laere syndrome 10.0 PRPS1L1 PRPS1
16 autosomal recessive nonsyndromic deafness 36 9.9 TRIOBP TPRN
17 deafness, autosomal recessive 61 9.9 TRIOBP TPRN
18 deafness, autosomal recessive 28 9.9 TRIOBP TPRN
19 deafness, autosomal recessive 37 9.9 TRIOBP TPRN
20 muscular dystrophy, becker type 9.9
21 muscular dystrophy, duchenne type 9.9
22 muscular dystrophy 9.9
23 deafness, autosomal recessive 1b 9.9 TPRN SMPX POU3F4
24 charcot-marie-tooth disease, x-linked recessive, 5 9.9 PRPS1L1 PRPS1 POU3F4
25 deafness, autosomal recessive 24 9.9 TRIOBP TPRN
26 arts syndrome 9.9 PRPS1L1 PRPS1 POU3F4
27 deafness, autosomal dominant 22 9.9 TRIOBP TPRN
28 opitz-kaveggia syndrome 9.9 PRPS1L1 PRPS1
29 x-linked non-syndromic sensorineural deafness type dfn 9.9 SMPX PRPS1 COL4A6
30 deafness, autosomal dominant 1, with or without thrombocytopenia 9.9 TRIOBP TPRN
31 lesch-nyhan syndrome 9.8 PRPS1L1 PRPS1
32 charcot-marie-tooth disease x-linked recessive 4 9.8 PRPS1 AIFM1
33 auditory system disease 9.7 TRIOBP TPRN POU3F4
34 desmoid disease, hereditary 9.7 TPRN AIFM1
35 charcot-marie-tooth disease type x 9.7 PRPS1L1 PRPS1 AIFM1
36 usher syndrome, type i 9.7 TRIOBP TPRN SMPX
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 TRIOBP POU3F4
38 usher syndrome 9.6 TRIOBP TPRN POU3F4
39 autosomal dominant nonsyndromic deafness 9.6 TRIOBP TPRN SMPX POU3F4
40 deafness, x-linked 1 9.0 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
41 deafness, x-linked 6 9.0 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
42 deafness, x-linked 4 9.0 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
43 deafness, x-linked 5, with peripheral neuropathy 9.0 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
44 deafness, x-linked 2 9.0 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
45 x-linked nonsyndromic deafness 8.5 TPRN SMPX PRPS1L1 PRPS1 POU3F4 DFNX3

Graphical network of the top 20 diseases related to Deafness, X-Linked 3:



Diseases related to Deafness, X-Linked 3

Symptoms & Phenotypes for Deafness, X-Linked 3

Human phenotypes related to Deafness, X-Linked 3:

31
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 31 HP:0008527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Ears:
congenital severe sensorineural hearing loss

Misc:
mild delayed manifestation in carrier females

Clinical features from OMIM®:

300030 (Updated 20-May-2021)

Drugs & Therapeutics for Deafness, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 3

Genetic Tests for Deafness, X-Linked 3

Anatomical Context for Deafness, X-Linked 3

Publications for Deafness, X-Linked 3

Articles related to Deafness, X-Linked 3:

# Title Authors PMID Year
1
A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD. 57 61
9799605 1998
2
Sex-linked deafness. 57
18005182 2008
3
Sensorineural hearing loss in the mdx mouse: a model of Duchenne muscular dystrophy. 57
9261007 1997
4
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. 57
7942846 1994
5
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. 57
1783396 1991
6
Nonsyndromic X-linked hearing loss. 61
22201925 2012
7
Clinical phenotype of DFN2, DFN4 and DFN6. 61
12408081 2002
8
DFN4: non-syndromic autosomal dominant X-linked sensorineural hearing impairment. 61
10868235 2000
9
Clinical evidence for dystrophin dysfunction as a cause of hearing loss in locus DFN4. 61
10334222 1999

Variations for Deafness, X-Linked 3

Expression for Deafness, X-Linked 3

Search GEO for disease gene expression data for Deafness, X-Linked 3.

Pathways for Deafness, X-Linked 3

GO Terms for Deafness, X-Linked 3

Cellular components related to Deafness, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium base GO:0120044 8.96 TRIOBP TPRN
2 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1L1 PRPS1

Biological processes related to Deafness, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.54 TRIOBP TPRN POU3F4
2 nucleoside metabolic process GO:0009116 9.43 PRPS1L1 PRPS1
3 purine nucleotide biosynthetic process GO:0006164 9.4 PRPS1L1 PRPS1
4 auditory receptor cell stereocilium organization GO:0060088 9.32 TRIOBP TPRN
5 nucleotide biosynthetic process GO:0009165 9.26 PRPS1L1 PRPS1
6 ribonucleoside monophosphate biosynthetic process GO:0009156 9.16 PRPS1L1 PRPS1
7 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.96 PRPS1L1 PRPS1
8 cellular biosynthetic process GO:0044249 8.62 PRPS1L1 PRPS1

Molecular functions related to Deafness, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase activity GO:0004749 8.62 PRPS1L1 PRPS1

Sources for Deafness, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....