MCID: XLN244
MIFTS: 15

X-Linked Sensorineural Deafness

Categories: Ear diseases

Aliases & Classifications for X-Linked Sensorineural Deafness

MalaCards integrated aliases for X-Linked Sensorineural Deafness:

Name: X-Linked Sensorineural Deafness 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080783

Summaries for X-Linked Sensorineural Deafness

MalaCards based summary : X-Linked Sensorineural Deafness is related to deafness, x-linked 1 and phosphoribosylpyrophosphate synthetase superactivity. An important gene associated with X-Linked Sensorineural Deafness is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Metabolism of nucleotides.

Related Diseases for X-Linked Sensorineural Deafness

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 1 30.0 PRPS1L1 PRPS1
2 phosphoribosylpyrophosphate synthetase superactivity 29.7 PRPS1L1 PRPS1
3 x-linked nonsyndromic deafness 29.7 PRPS1L1 PRPS1
4 branchiootic syndrome 1 10.2
5 nonsyndromic hearing loss 10.2
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
7 sensorineural hearing loss 10.1
8 nonsyndromic deafness 10.1
9 charcot-marie-tooth neuropathy x type 5 10.1
10 dfnx1 nonsyndromic hearing loss and deafness 10.1
11 x-linked non-syndromic sensorineural deafness type dfn 10.1
12 charcot-marie-tooth disease type 5 9.8 PRPS1L1 PRPS1
13 charcot-marie-tooth disease 9.8 PRPS1L1 PRPS1
14 deafness, x-linked 3 9.8 PRPS1L1 PRPS1
15 deafness, x-linked 6 9.8 PRPS1L1 PRPS1
16 deafness, x-linked 4 9.8 PRPS1L1 PRPS1
17 charcot-marie-tooth disease type x 9.8 PRPS1L1 PRPS1
18 charcot-marie-tooth disease, x-linked recessive, 5 9.8 PRPS1L1 PRPS1
19 arts syndrome 9.8 PRPS1L1 PRPS1
20 purine-pyrimidine metabolic disorder 9.8 PRPS1L1 PRPS1
21 deafness, x-linked 5, with peripheral neuropathy 9.7 PRPS1L1 PRPS1
22 brown-vialetto-van laere syndrome 9.7 PRPS1L1 PRPS1
23 deafness, x-linked 2 9.7 PRPS1L1 PRPS1
24 opitz-kaveggia syndrome 9.7 PRPS1L1 PRPS1
25 lesch-nyhan syndrome 9.6 PRPS1L1 PRPS1
26 charcot-marie-tooth disease and deafness 9.6 PRPS1L1 PRPS1
27 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 PRPS1L1 PRPS1

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



Diseases related to X-Linked Sensorineural Deafness

Symptoms & Phenotypes for X-Linked Sensorineural Deafness

Drugs & Therapeutics for X-Linked Sensorineural Deafness

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

Genetic Tests for X-Linked Sensorineural Deafness

Anatomical Context for X-Linked Sensorineural Deafness

Publications for X-Linked Sensorineural Deafness

Articles related to X-Linked Sensorineural Deafness:

# Title Authors PMID Year
1
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1. 61
30874365 2020
2
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 61
20021999 2010
3
Clinical and molecular genetics of primary dystonias. 61
10737119 1998

Variations for X-Linked Sensorineural Deafness

Expression for X-Linked Sensorineural Deafness

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

Pathways for X-Linked Sensorineural Deafness

Pathways related to X-Linked Sensorineural Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 PRPS1L1 PRPS1
2
Show member pathways
11.83 PRPS1L1 PRPS1
3
Show member pathways
11.29 PRPS1L1 PRPS1
4
Show member pathways
10.44 PRPS1L1 PRPS1

GO Terms for X-Linked Sensorineural Deafness

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

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1L1 PRPS1

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.4 PRPS1L1 PRPS1
2 nucleoside metabolic process GO:0009116 9.37 PRPS1L1 PRPS1
3 purine nucleotide biosynthetic process GO:0006164 9.32 PRPS1L1 PRPS1
4 nucleotide biosynthetic process GO:0009165 9.26 PRPS1L1 PRPS1
5 ribonucleoside monophosphate biosynthetic process GO:0009156 9.16 PRPS1L1 PRPS1
6 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.96 PRPS1L1 PRPS1
7 cellular biosynthetic process GO:0044249 8.62 PRPS1L1 PRPS1

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.26 PRPS1L1 PRPS1
2 protein homodimerization activity GO:0042803 9.16 PRPS1L1 PRPS1
3 magnesium ion binding GO:0000287 8.96 PRPS1L1 PRPS1
4 ribose phosphate diphosphokinase activity GO:0004749 8.62 PRPS1L1 PRPS1

Sources for X-Linked Sensorineural 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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