MCID: DFN147
MIFTS: 22

Deafness, X-Linked 4

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

Aliases & Classifications for Deafness, X-Linked 4

MalaCards integrated aliases for Deafness, X-Linked 4:

Name: Deafness, X-Linked 4 53 28 13 69
Dfnx4 53 71
Dfn6 53 71
Deafness, Nonsyndromic Sensorineural Progressive 6 53
Deafness Nonsyndromic Sensorineural Progressive 6 71
Deafness, X-Linked 6, Progressive; Dfn6 53
Deafness, X-Linked 6, Progressive 53
Deafness X-Linked 6 Progressive 71
Deafness, X-Linked, 4 71

Characteristics:

OMIM:

53
Inheritance:
x-linked dominant

Miscellaneous:
postlingual onset
age at onset in males ranges from 3 to 7 years
age at onset in females ranges from childhood to the fourth decade
all patients have severe hearing loss 10 to 15 years after onset
females carriers have more variable age at onset and severity


HPO:

31
deafness, x-linked 4:
Inheritance x-linked dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 53 300066
MedGen 39 C1848204
MeSH 41 D006319
SNOMED-CT via HPO 65 60700002 232326009 48758008
UMLS 69 C1848204

Summaries for Deafness, X-Linked 4

UniProtKB/Swiss-Prot : 71 Deafness, X-linked, 4: A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies.

MalaCards based summary : Deafness, X-Linked 4, also known as dfnx4, is related to deafness, x-linked 3 and branchiootic syndrome 1, and has symptoms including sensorineural hearing impairment and high-frequency hearing impairment. An important gene associated with Deafness, X-Linked 4 is SMPX (Small Muscle Protein, X-Linked).

OMIM : 53 X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by del Castillo et al., 1996). (300066)

Related Diseases for Deafness, X-Linked 4

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

# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 3 11.3
2 branchiootic syndrome 1 9.9
3 x-linked nonsyndromic deafness 9.4 DFNX3 SMPX

Symptoms & Phenotypes for Deafness, X-Linked 4

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural
hearing loss first affects high frequencies


Clinical features from OMIM:

300066

Human phenotypes related to Deafness, X-Linked 4:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 high-frequency hearing impairment 31 HP:0005101

Drugs & Therapeutics for Deafness, X-Linked 4

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 4

Genetic Tests for Deafness, X-Linked 4

Genetic tests related to Deafness, X-Linked 4:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 4 28

Anatomical Context for Deafness, X-Linked 4

Publications for Deafness, X-Linked 4

Articles related to Deafness, X-Linked 4:

# Title Authors Year
1
Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. ( 21893181 )
2011

Variations for Deafness, X-Linked 4

ClinVar genetic disease variations for Deafness, X-Linked 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPX NM_014332.2(SMPX): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 GRCh37 Chromosome X, 21755734: 21755734
2 SMPX NM_014332.2(SMPX): c.130delG (p.Glu44Argfs) deletion Pathogenic rs398122848 GRCh37 Chromosome X, 21761870: 21761870
3 SMPX NM_014332.2(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 GRCh38 Chromosome X, 21743773: 21743773
4 SMPX NM_014332.2(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 GRCh37 Chromosome X, 21755773: 21755773
5 SMPX NM_014332.2(SMPX): c.99delC (p.Arg34Glufs) deletion Pathogenic rs398122930 GRCh37 Chromosome X, 21761901: 21761901
6 SMPX NM_014332.2(SMPX): c.133-1G> A single nucleotide variant Likely pathogenic rs1060499590 GRCh37 Chromosome X, 21755816: 21755816

Expression for Deafness, X-Linked 4

Search GEO for disease gene expression data for Deafness, X-Linked 4.

Pathways for Deafness, X-Linked 4

GO Terms for Deafness, X-Linked 4

Sources for Deafness, X-Linked 4

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
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