DFNX1
MCID: DFN194
MIFTS: 35

Deafness, X-Linked 1 (DFNX1)

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

Aliases & Classifications for Deafness, X-Linked 1

MalaCards integrated aliases for Deafness, X-Linked 1:

Name: Deafness, X-Linked 1 57 29 13 6 70
Dfnx1 57 12 72
Dfn2 57 12 72
X-Linked Deafness 1 12 15
Deafness, X-Linked 2, Sensorineural Congenital; Dfn2 57
Deafness, X-Linked 2, Sensorineural Congenital 57
X-Linked Sensorineural Congenital Deafness 2 12
Congenital Sensorineural Deafness X-Linked 2 72
Deafness, X-Linked, Type 1 39
Deafness, X-Linked, 1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
variable age at onset, ranging from prelingual at birth to fifth decade
males tend to have earlier onset than females


HPO:

31
deafness, x-linked 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111739
OMIM® 57 304500
OMIM Phenotypic Series 57 PS304500
MeSH 44 D006319
MedGen 41 C1844677
SNOMED-CT via HPO 68 60700002
UMLS 70 C1844677

Summaries for Deafness, X-Linked 1

Disease Ontology : 12 An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has material basis in mutation in PRPS1 on chromosome Xq22.3.

MalaCards based summary : Deafness, X-Linked 1, also known as dfnx1, is related to x-linked non-syndromic sensorineural deafness type dfn and phosphoribosylpyrophosphate synthetase superactivity. An important gene associated with Deafness, X-Linked 1 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Carbon metabolism and Pentose phosphate pathway. Related phenotype is sensorineural hearing impairment.

UniProtKB/Swiss-Prot : 72 Deafness, X-linked, 1: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.

More information from OMIM: 304500 PS304500

Related Diseases for Deafness, X-Linked 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 x-linked non-syndromic sensorineural deafness type dfn 30.1 SMPX PRPS1 COL4A6
2 phosphoribosylpyrophosphate synthetase superactivity 29.4 PRPS2 PRPS1L1 PRPS1 MSMB
3 sensorineural hearing loss 29.1 TIMM8A SMPX PRPS1 POU3F4 COL4A6 AIFM1
4 deafness, x-linked 3 28.9 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
5 x-linked nonsyndromic deafness 27.0 TIMM8A SMPX PRPSAP2 PRPSAP1 PRPS2 PRPS1L1
6 dfnx1 nonsyndromic hearing loss and deafness 11.0
7 branchiootic syndrome 1 10.2
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
9 nonsyndromic hearing loss 10.2
10 purine-pyrimidine metabolic disorder 10.1 PRPS1L1 PRPS1
11 deafness, autosomal recessive 1b 10.1 SMPX POU3F4
12 brown-vialetto-van laere syndrome 10.0 PRPS1L1 PRPS1
13 opitz-kaveggia syndrome 10.0 PRPS1L1 PRPS1
14 mental retardation, x-linked, syndromic, martin-probst type 10.0 TIMM8A POU3F4
15 charcot-marie-tooth disease, x-linked dominant, 6 10.0 SMPX PRPS2 PRPS1
16 hereditary hearing loss and deafness 10.0 SMPX PRPS1 POU3F4
17 charcot-marie-tooth disease type 5 9.9 PRPS1L1 PRPS1 MSMB
18 nonsyndromic deafness 9.9
19 charcot-marie-tooth neuropathy x type 5 9.9
20 lesch-nyhan syndrome 9.9 PRPS1L1 PRPS1
21 mohr-tranebjaerg syndrome 9.8 TIMM8A SMPX POU3F4
22 charcot-marie-tooth disease x-linked recessive 4 9.8 TIMM8A PRPS1 AIFM1
23 charcot-marie-tooth disease type x 9.8 PRPS2 PRPS1L1 PRPS1 AIFM1
24 deafness, x-linked 5, with peripheral neuropathy 9.4 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
25 arts syndrome 9.2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4 MSMB
26 deafness, x-linked 2 9.1 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
27 deafness, x-linked 6 9.1 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
28 deafness, x-linked 4 9.1 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
29 charcot-marie-tooth disease, x-linked recessive, 5 8.8 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4

Graphical network of the top 20 diseases related to Deafness, X-Linked 1:



Diseases related to Deafness, X-Linked 1

Symptoms & Phenotypes for Deafness, X-Linked 1

Human phenotypes related to Deafness, X-Linked 1:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM®:

304500 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, X-Linked 1

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 1

Genetic Tests for Deafness, X-Linked 1

Genetic tests related to Deafness, X-Linked 1:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 1 29 PRPS1

Anatomical Context for Deafness, X-Linked 1

Publications for Deafness, X-Linked 1

Articles related to Deafness, X-Linked 1:

(show all 23)
# Title Authors PMID Year
1
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 6 57 61
25182139 2015
2
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. 6 57
24528855 2014
3
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 57 6
20021999 2010
4
Refinement of the locus for non-syndromic sensorineural deafness (DFN2). 6 57
15240907 2004
5
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. 6 57
10503584 1999
6
Mapping of DFN2 to Xq22. 6 57
8968763 1996
7
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 57
25491489 2014
8
Sex-linked deafness. 57
18005182 2008
9
Genetic causes of hearing loss. 57
10760311 2000
10
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. 57
7942846 1994
11
A new form of X-linked, high-frequency, sensorineural deafness. 57
1544216 1992
12
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. 57
1783396 1991
13
Sex linked deafness: Wilde revisited. 57
2359100 1990
14
Sex-linked congenital deafness. 57
5822288 1969
15
Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. 57
5865628 1965
16
Sex-linked deaf-mutism. 57
13982090 1963
17
Congenital deafness due to a sex-linked recessive gene. 57
13533396 1958
18
Sex-linked hereditary deafness. 57
14388008 1955
19
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1. 61
30874365 2020
20
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018
21
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. 61
27886419 2016
22
Nonsyndromic X-linked hearing loss. 61
22201925 2012
23
DFNX1 Nonsyndromic Hearing Loss and Deafness 61
21834172 2011

Variations for Deafness, X-Linked 1

ClinVar genetic disease variations for Deafness, X-Linked 1:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPS1 NM_001204402.1(PRPS1):c.-82-5812G>A SNV Pathogenic 9938 rs180177151 GRCh37: X:106882595-106882595
GRCh38: X:107639365-107639365
2 PRPS1 NM_001204402.1(PRPS1):c.-82-5746G>A SNV Pathogenic 9939 rs180177152 GRCh37: X:106882661-106882661
GRCh38: X:107639431-107639431
3 PRPS1 NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) SNV Pathogenic 9940 rs180177154 GRCh37: X:106893221-106893221
GRCh38: X:107649991-107649991
4 PRPS1 NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) SNV Pathogenic 9941 rs180177153 GRCh37: X:106893174-106893174
GRCh38: X:107649944-107649944
5 PRPS1 NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) SNV Pathogenic 223100 rs869025593 GRCh37: X:106890961-106890961
GRCh38: X:107647731-107647731
6 PRPS1 NM_002764.3(PRPS1):c.337G>T (p.Ala113Ser) SNV Pathogenic 140571 rs587781261 GRCh37: X:106884162-106884162
GRCh38: X:107640932-107640932
7 PRPS1 NM_002764.3(PRPS1):c.343A>G (p.Met115Val) SNV Pathogenic 140572 rs587781262 GRCh37: X:106884168-106884168
GRCh38: X:107640938-107640938
8 PRPS1 NM_002764.3(PRPS1):c.*389G>C SNV Uncertain significance 367707 rs5962870 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
9 PRPS1 NM_002764.3(PRPS1):c.*538G>T SNV Uncertain significance 367709 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
10 PRPS1 NM_002764.3(PRPS1):c.*88C>T SNV Uncertain significance 367703 rs1057515726 GRCh37: X:106893350-106893350
GRCh38: X:107650120-107650120
11 PRPS1 NM_002764.3(PRPS1):c.*762G>T SNV Uncertain significance 367711 rs768310830 GRCh37: X:106894024-106894024
GRCh38: X:107650794-107650794
12 PRPS1 NM_002764.4(PRPS1):c.*137C>T SNV Uncertain significance 915184 GRCh37: X:106893399-106893399
GRCh38: X:107650169-107650169
13 PRPS1 NM_002764.3(PRPS1):c.*538G>C SNV Uncertain significance 367708 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
14 PRPS1 NM_002764.3(PRPS1):c.*159G>A SNV Uncertain significance 367704 rs747334780 GRCh37: X:106893421-106893421
GRCh38: X:107650191-107650191
15 PRPS1 NM_002764.3(PRPS1):c.*166G>A SNV Uncertain significance 367705 rs371265973 GRCh37: X:106893428-106893428
GRCh38: X:107650198-107650198
16 PRPS1 NM_002764.4(PRPS1):c.*539G>C SNV Uncertain significance 912516 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
17 PRPS1 NM_002764.4(PRPS1):c.*539G>T SNV Uncertain significance 912517 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
18 PRPS1 NM_002764.4(PRPS1):c.*608C>T SNV Uncertain significance 912518 GRCh37: X:106893870-106893870
GRCh38: X:107650640-107650640
19 PRPS1 NM_002764.4(PRPS1):c.*389G>A SNV Uncertain significance 913589 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
20 PRPS1 NM_002764.4(PRPS1):c.*726C>T SNV Uncertain significance 913628 GRCh37: X:106893988-106893988
GRCh38: X:107650758-107650758
21 PRPS1 NM_002764.4(PRPS1):c.*423T>A SNV Uncertain significance 913984 GRCh37: X:106893685-106893685
GRCh38: X:107650455-107650455
22 PRPS1 NM_002764.4(PRPS1):c.*508G>C SNV Uncertain significance 913985 GRCh37: X:106893770-106893770
GRCh38: X:107650540-107650540
23 PRPS1 NM_002764.4(PRPS1):c.720C>T (p.Gly240=) SNV Likely benign 701064 rs746885792 GRCh37: X:106890851-106890851
GRCh38: X:107647621-107647621
24 PRPS1 NM_002764.3(PRPS1):c.444G>A (p.Glu148=) SNV Likely benign 367702 rs201285459 GRCh37: X:106885634-106885634
GRCh38: X:107642404-107642404
25 PRPS1 NM_002764.3(PRPS1):c.447G>A (p.Pro149=) SNV Benign 21323 rs80338730 GRCh37: X:106885637-106885637
GRCh38: X:107642407-107642407
26 PRPS1 NM_002764.4(PRPS1):c.456A>G (p.Leu152=) SNV Benign 164996 rs61735617 GRCh37: X:106885646-106885646
GRCh38: X:107642416-107642416
27 PRPS1 NM_002764.4(PRPS1):c.*158C>T SNV Benign 912472 GRCh37: X:106893420-106893420
GRCh38: X:107650190-107650190
28 PRPS1 NM_002764.3(PRPS1):c.*178G>A SNV Benign 367706 rs576933222 GRCh37: X:106893440-106893440
GRCh38: X:107650210-107650210
29 PRPS1 NM_002764.4(PRPS1):c.477C>T (p.Ile159=) SNV Benign 94083 rs61752962 GRCh37: X:106885667-106885667
GRCh38: X:107642437-107642437
30 PRPS1 NM_002764.3(PRPS1):c.*725T>C SNV Benign 367710 rs183744100 GRCh37: X:106893987-106893987
GRCh38: X:107650757-107650757

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 1:

72
# Symbol AA change Variation ID SNP ID
1 PRPS1 p.Asp65Asn VAR_063522 rs180177151
2 PRPS1 p.Ala87Thr VAR_063523 rs180177152
3 PRPS1 p.Ile290Thr VAR_063524 rs180177153
4 PRPS1 p.Gly306Arg VAR_063525 rs180177154

Expression for Deafness, X-Linked 1

Search GEO for disease gene expression data for Deafness, X-Linked 1.

Pathways for Deafness, X-Linked 1

GO Terms for Deafness, X-Linked 1

Cellular components related to Deafness, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 9.02 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Biological processes related to Deafness, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.65 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
2 nucleobase-containing compound metabolic process GO:0006139 9.58 PRPSAP2 PRPSAP1 PRPS2
3 purine nucleotide biosynthetic process GO:0006164 9.55 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
4 ribonucleoside monophosphate biosynthetic process GO:0009156 9.54 PRPS2 PRPS1L1 PRPS1
5 cellular biosynthetic process GO:0044249 9.5 PRPS2 PRPS1L1 PRPS1
6 negative regulation of catalytic activity GO:0043086 9.43 PRPSAP2 PRPSAP1
7 nucleotide biosynthetic process GO:0009165 9.35 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
8 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.02 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Molecular functions related to Deafness, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.65 TIMM8A PRPSAP2 PRPSAP1 PRPS2 PRPS1
2 magnesium ion binding GO:0000287 9.35 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
3 enzyme inhibitor activity GO:0004857 9.16 PRPSAP2 PRPSAP1
4 ribose phosphate diphosphokinase activity GO:0004749 9.02 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Sources for Deafness, X-Linked 1

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
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