MCID: DFN194
MIFTS: 18

Deafness, X-Linked 1

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Mental 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 73
Dfnx1 57 75
Dfn2 57 75
Deafness, X-Linked 2, Sensorineural Congenital; Dfn2 57
Deafness, X-Linked 2, Sensorineural Congenital 57
Congenital Sensorineural Deafness X-Linked 2 75
Deafness, X-Linked, Type 1 40
Deafness, X-Linked, 1 75

Characteristics:

OMIM:

57
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:

32
deafness, x-linked 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 304500
MedGen 42 C1844677
MeSH 44 D006319
SNOMED-CT via HPO 69 60700002
UMLS 73 C1844677

Summaries for Deafness, X-Linked 1

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Deafness, X-Linked 1 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1). Related phenotype is sensorineural hearing impairment.

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

Symptoms & Phenotypes for Deafness, X-Linked 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

304500

Human phenotypes related to Deafness, X-Linked 1:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 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 29 PRPS1

Anatomical Context for Deafness, X-Linked 1

Publications for Deafness, X-Linked 1

Variations for Deafness, X-Linked 1

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

75
# 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
(show all 14)
# 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.193G> A (p.Asp65Asn) single nucleotide variant Pathogenic rs180177151 GRCh38 Chromosome X, 107639365: 107639365
3 PRPS1 NM_002764.3(PRPS1): c.259G> A (p.Ala87Thr) single nucleotide variant Pathogenic rs180177152 GRCh37 Chromosome X, 106882661: 106882661
4 PRPS1 NM_002764.3(PRPS1): c.259G> A (p.Ala87Thr) single nucleotide variant Pathogenic rs180177152 GRCh38 Chromosome X, 107639431: 107639431
5 PRPS1 NM_002764.3(PRPS1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs180177154 GRCh37 Chromosome X, 106893221: 106893221
6 PRPS1 NM_002764.3(PRPS1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs180177154 GRCh38 Chromosome X, 107649991: 107649991
7 PRPS1 NM_002764.3(PRPS1): c.869T> C (p.Ile290Thr) single nucleotide variant Pathogenic rs180177153 GRCh37 Chromosome X, 106893174: 106893174
8 PRPS1 NM_002764.3(PRPS1): c.869T> C (p.Ile290Thr) single nucleotide variant Pathogenic rs180177153 GRCh38 Chromosome X, 107649944: 107649944
9 PRPS1 NM_002764.3(PRPS1): c.337G> T (p.Ala113Ser) single nucleotide variant Pathogenic rs587781261 GRCh37 Chromosome X, 106884162: 106884162
10 PRPS1 NM_002764.3(PRPS1): c.337G> T (p.Ala113Ser) single nucleotide variant Pathogenic rs587781261 GRCh38 Chromosome X, 107640932: 107640932
11 PRPS1 NM_002764.3(PRPS1): c.343A> G (p.Met115Val) single nucleotide variant Pathogenic rs587781262 GRCh37 Chromosome X, 106884168: 106884168
12 PRPS1 NM_002764.3(PRPS1): c.343A> G (p.Met115Val) single nucleotide variant Pathogenic rs587781262 GRCh38 Chromosome X, 107640938: 107640938
13 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh37 Chromosome X, 106890961: 106890961
14 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh38 Chromosome X, 107647731: 107647731

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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