MCID: DFN194
MIFTS: 25

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 54 29 13 69
Congenital Sensorineural Deafness X-Linked 2 71
Deafness, X-Linked, 1 71
Dfnx1 71
Dfn2 71

Characteristics:

OMIM:

54
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 54 304500
MedGen 40 C1844677
MeSH 42 D006319
SNOMED-CT via HPO 65 60700002

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 congenital sensorineural deafness x-linked 2, is related to dfnx1 nonsyndromic hearing loss and deafness, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, X-Linked 1 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1). The drugs Benazepril and Fluvastatin have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM: 304500

Related Diseases for Deafness, X-Linked 1

Diseases in the X-Linked Nonsyndromic Deafness family:

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

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

id Related Disease Score Top Affiliating Genes
1 dfnx1 nonsyndromic hearing loss and deafness 11.1

Symptoms & Phenotypes for Deafness, X-Linked 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, sensorineural


Clinical features from OMIM:

304500

Human phenotypes related to Deafness, X-Linked 1:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Drugs & Therapeutics for Deafness, X-Linked 1

Drugs for Deafness, X-Linked 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
2
Fluvastatin Approved Phase 2 93957-54-1 1548972
3
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
4
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
rituximab Approved Phase 2 174722-31-7 10201696
10 Thiotepa Approved Phase 2 52-24-4 5453
11 Tocopherol Approved, Nutraceutical Phase 2
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
13
Angiotensin II Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
14 Angiotensin II Type 1 Receptor Blockers Phase 2
15 Angiotensin Receptor Antagonists Phase 2
16 Angiotensin-Converting Enzyme Inhibitors Phase 2
17 Angiotensinogen Phase 2
18 Anticholesteremic Agents Phase 2
19 Antihypertensive Agents Phase 2
20 Antimetabolites Phase 2
21 HIV Protease Inhibitors Phase 2
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
23 Hypolipidemic Agents Phase 2
24 Lipid Regulating Agents Phase 2
25 Liver Extracts Phase 2
26
protease inhibitors Phase 2
27 Alkylating Agents Phase 2
28 Antilymphocyte Serum Phase 2
29 Antimetabolites, Antineoplastic Phase 2
30 Immunosuppressive Agents Phase 2
31 N-monoacetylcystine Phase 2
32 Thioctic Acid Phase 2
33 Tocopherols Phase 2
34 Tocotrienols Phase 2
35 Vitamins Phase 2
36 Alpha-lipoic Acid Nutraceutical Phase 2
37 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
38 Anti-Bacterial Agents Phase 1
39 Anti-Infective Agents Phase 1
40 Gentamicins Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome Completed NCT00309257 Phase 2 ACE I, ATA II and Statins;Benazepril, Valsartan and Fluvastatin
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
3 Gentamicin Treatment of Muscular Dystrophy Completed NCT00005574 Phase 1 Gentamicin
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, X-Linked 1

Genetic Tests for Deafness, X-Linked 1

Genetic tests related to Deafness, X-Linked 1:

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

Anatomical Context for Deafness, X-Linked 1

MalaCards organs/tissues related to Deafness, X-Linked 1:

39
Liver

Publications for Deafness, X-Linked 1

Variations for Deafness, X-Linked 1

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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....