MCID: DFN194
MIFTS: 20

Deafness, X-Linked 1

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

Aliases & Classifications for Deafness, X-Linked 1

MalaCards integrated aliases for Deafness, X-Linked 1:

Name: Deafness, X-Linked 1 53 28 13 69
Dfnx1 53 71
Dfn2 53 71
Deafness, X-Linked 2, Sensorineural Congenital; Dfn2 53
Deafness, X-Linked 2, Sensorineural Congenital 53
Congenital Sensorineural Deafness X-Linked 2 71
Deafness, X-Linked, 1 71

Characteristics:

OMIM:

53
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:

OMIM 53 304500
MedGen 39 C1844677
MeSH 41 D006319
SNOMED-CT via HPO 65 60700002
UMLS 69 C1844677

Summaries for Deafness, X-Linked 1

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Deafness, X-Linked 1, also known as dfnx1, is related to dfnx1 nonsyndromic hearing loss and deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, X-Linked 1 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1).

Description from OMIM: 304500

Related Diseases for Deafness, X-Linked 1

Diseases in the X-Linked Nonsyndromic Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 5 Deafness, X-Linked 6
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1

Diseases related to Deafness, X-Linked 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dfnx1 nonsyndromic hearing loss and deafness 12.1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
3 branchiootic syndrome 1 9.9

Symptoms & Phenotypes for Deafness, X-Linked 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

304500

Human phenotypes related to Deafness, X-Linked 1:

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

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 28

Anatomical Context for Deafness, X-Linked 1

Publications for Deafness, X-Linked 1

Articles related to Deafness, X-Linked 1:

# Title Authors 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. ( 27886419 )
2016
2
DFNX1 Nonsyndromic Hearing Loss and Deafness ( 21834172 )
1993

Variations for Deafness, X-Linked 1

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

71
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPS1 NM_002764.3(PRPS1): c.193G> A (p.Asp65Asn) single nucleotide variant Pathogenic rs180177151 GRCh37 Chromosome X, 106882595: 106882595
2 PRPS1 NM_002764.3(PRPS1): c.259G> A (p.Ala87Thr) single nucleotide variant Pathogenic rs180177152 GRCh37 Chromosome X, 106882661: 106882661
3 PRPS1 NM_002764.3(PRPS1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs180177154 GRCh37 Chromosome X, 106893221: 106893221
4 PRPS1 NM_002764.3(PRPS1): c.869T> C (p.Ile290Thr) single nucleotide variant Pathogenic rs180177153 GRCh37 Chromosome X, 106893174: 106893174
5 PRPS1 NM_002764.3(PRPS1): c.337G> T (p.Ala113Ser) single nucleotide variant Pathogenic rs587781261 GRCh37 Chromosome X, 106884162: 106884162
6 PRPS1 NM_002764.3(PRPS1): c.343A> G (p.Met115Val) single nucleotide variant Pathogenic rs587781262 GRCh37 Chromosome X, 106884168: 106884168
7 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh37 Chromosome X, 106890961: 106890961

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

Sources for Deafness, X-Linked 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....