MCID: XLN004
MIFTS: 28

X-Linked Nonsyndromic Deafness

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

Aliases & Classifications for X-Linked Nonsyndromic Deafness

MalaCards integrated aliases for X-Linked Nonsyndromic Deafness:

Name: X-Linked Nonsyndromic Deafness 12 15
Deafness, X-Linked 36 29 6 39
X-Linked Deafness 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050566
KEGG 36 H01209
ICD10 32 H90.3

Summaries for X-Linked Nonsyndromic Deafness

KEGG : 36 Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous disorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hearing loss.

MalaCards based summary : X-Linked Nonsyndromic Deafness, also known as deafness, x-linked, is related to deafness, x-linked 5, with peripheral neuropathy and mental retardation, x-linked, syndromic, martin-probst type. An important gene associated with X-Linked Nonsyndromic Deafness is SMPX (Small Muscle Protein X-Linked), and among its related pathways/superpathways are Gap junction trafficking and Pentose phosphate pathway. Related phenotype is hearing/vestibular/ear.

Disease Ontology : 12 A nonsyndromic deafness characterized by an X-linked inheritance mode.

Related Diseases for X-Linked Nonsyndromic Deafness

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 X-Linked Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 5, with peripheral neuropathy 32.3 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
2 mental retardation, x-linked, syndromic, martin-probst type 32.2 TIMM8A POU3F4
3 x-linked alport syndrome 32.2 COL4A6 COL4A5
4 deafness, x-linked 6 31.7 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
5 deafness, x-linked 4 31.7 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
6 deafness, x-linked 3 31.4 TPRN SMPX PRPS1L1 PRPS1 POU3F4 DFNX3
7 deafness, x-linked 1 31.2 TIMM8A SMPX PRPSAP1 PRPS2 PRPS1L1 PRPS1
8 deafness, x-linked 2 30.7 TIMM8A SMPX SLC26A4 PRPS1L1 PRPS1 POU4F3
9 auditory neuropathy spectrum disorder 30.3 MT-RNR1 AIFM1
10 rare genetic deafness 29.6 SLC26A4 POU3F4 MT-TS1 MT-RNR1 GJB2 COL4A5
11 sensorineural hearing loss 28.4 TPRN TIMM8A SMPX SLC26A4 PRPS1 POU4F3
12 alport syndrome 1, x-linked 11.4
13 deafness, x-linked 7 11.2
14 deafness x-linked, dfn3 11.2
15 deafness, x-linked, dfn 11.2
16 x-linked hereditary sensory and autonomic neuropathy with deafness 11.1
17 choroideremia 11.0
18 x-linked charcot-marie-tooth disease 10.4 PRPS1 GJB2
19 charcot-marie-tooth disease type 5 10.4 PRPS1L1 PRPS1
20 nonsyndromic hearing loss and deafness, dfna3 10.4 GJB6 GJB2
21 deafness, autosomal recessive 7 10.4 SLC26A4 GJB2
22 purulent labyrinthitis 10.3 GJB6 GJB2
23 viral labyrinthitis 10.3 GJB6 GJB2
24 charcot-marie-tooth disease, x-linked dominant, 6 10.3 SMPX PRPS2 PRPS1
25 x-linked non-syndromic sensorineural deafness type dfn 10.3 SMPX PRPS1 COL4A6
26 x-linked alport syndrome-diffuse leiomyomatosis 10.3 COL4A6 COL4A5
27 phosphoribosylpyrophosphate synthetase superactivity 10.3 PRPS2 PRPS1L1 PRPS1
28 hypotrichosis-deafness syndrome 10.3 GJB3 GJB2
29 mohr-tranebjaerg syndrome 10.3 TIMM8A SMPX POU3F4
30 nonsyndromic hearing loss and deafness, mitochondrial 10.3 MT-TS1 MT-RNR1
31 serous labyrinthitis 10.3 SLC26A4 GJB2
32 deafness, autosomal dominant 56 10.3 SLC26A4 GJB2
33 charcot-marie-tooth disease x-linked recessive 4 10.3 TIMM8A PRPS1 AIFM1
34 hereditary lymphedema ic 10.3 GJB3 GJB2
35 deafness, autosomal recessive 49 10.3 POU3F4 GJB2
36 congenital cytomegalovirus 10.3 MT-RNR1 GJB6 GJB2
37 labyrinthitis 10.2 SLC26A4 GJB6 GJB2
38 deafness, autosomal dominant 24 10.2 POU4F3 GJB3
39 erythrokeratoderma 10.2 GJB3 GJB2
40 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.2 GJB2 COL4A5
41 deafness, autosomal dominant 41 10.2 SLC26A4 POU4F3 GJB2
42 deafness, autosomal recessive 77 10.2 SLC26A4 GJB2
43 deafness, nonsyndromic sensorineural, mitochondrial 10.2 POU3F4 MT-TS1 MT-RNR1
44 deafness, autosomal dominant 6 10.2 SLC26A4 POU4F3 GJB2
45 deafness, autosomal recessive 26 10.2 MT-RNR1 GJB2
46 charcot-marie-tooth disease type x 10.2 PRPS2 PRPS1L1 PRPS1 AIFM1
47 pseudoainhum 10.2 GJB6 GJB3 GJB2
48 nonsyndromic hearing loss and deafness, dfnb1 10.2 GJB6 GJB3 GJB2
49 dfnb1 10.2 GJB6 GJB3 GJB2
50 deafness, autosomal dominant 3a 10.2 GJB6 GJB3 GJB2

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



Diseases related to X-Linked Nonsyndromic Deafness

Symptoms & Phenotypes for X-Linked Nonsyndromic Deafness

MGI Mouse Phenotypes related to X-Linked Nonsyndromic Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 GJB2 GJB3 GJB6 POU3F4 POU4F3 SLC26A4

Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

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

Genetic Tests for X-Linked Nonsyndromic Deafness

Genetic tests related to X-Linked Nonsyndromic Deafness:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 29

Anatomical Context for X-Linked Nonsyndromic Deafness

Publications for X-Linked Nonsyndromic Deafness

Articles related to X-Linked Nonsyndromic Deafness:

# Title Authors PMID Year
1
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 61
20021999 2010
2
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. 61
16365218 2005
3
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. 61
1783396 1991

Variations for X-Linked Nonsyndromic Deafness

ClinVar genetic disease variations for X-Linked Nonsyndromic Deafness:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMPX NM_014332.3(SMPX):c.87dup (p.Gly30fs) Duplication Pathogenic 444056 rs1569308571 GRCh37: X:21761912-21761913
GRCh38: X:21743794-21743795

Expression for X-Linked Nonsyndromic Deafness

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

Pathways for X-Linked Nonsyndromic Deafness

GO Terms for X-Linked Nonsyndromic Deafness

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

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.33 GJB6 GJB3 GJB2
2 collagen type IV trimer GO:0005587 9.26 COL4A6 COL4A5
3 connexin complex GO:0005922 9.13 GJB6 GJB3 GJB2
4 ribose phosphate diphosphokinase complex GO:0002189 8.92 PRPSAP1 PRPS2 PRPS1L1 PRPS1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.73 POU4F3 POU3F4 GJB6 GJB2
2 cell communication GO:0007154 9.63 GJB6 GJB3 GJB2
3 sensory perception of sound GO:0007605 9.63 TPRN SLC26A4 POU4F3 POU3F4 GJB6 GJB2
4 nucleoside metabolic process GO:0009116 9.62 PRPSAP1 PRPS2 PRPS1L1 PRPS1
5 ribonucleoside monophosphate biosynthetic process GO:0009156 9.58 PRPS2 PRPS1L1 PRPS1
6 purine nucleotide biosynthetic process GO:0006164 9.56 PRPSAP1 PRPS2 PRPS1L1 PRPS1
7 cellular biosynthetic process GO:0044249 9.54 PRPS2 PRPS1L1 PRPS1
8 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.52 COL4A6 COL4A5
9 gap junction assembly GO:0016264 9.51 GJB6 GJB2
10 cell communication by electrical coupling GO:0010644 9.49 GJB6 GJB2
11 gap junction-mediated intercellular transport GO:1990349 9.48 GJB6 GJB2
12 nucleotide biosynthetic process GO:0009165 9.26 PRPSAP1 PRPS2 PRPS1L1 PRPS1
13 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.92 PRPSAP1 PRPS2 PRPS1L1 PRPS1

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

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.56 PRPSAP1 PRPS2 PRPS1L1 PRPS1
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.16 GJB6 GJB2
3 gap junction channel activity GO:0005243 9.13 GJB6 GJB3 GJB2
4 ribose phosphate diphosphokinase activity GO:0004749 8.92 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Sources for X-Linked Nonsyndromic Deafness

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....