DFNX4
MCID: DFN147
MIFTS: 22

Deafness, X-Linked 4 (DFNX4)

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

Aliases & Classifications for Deafness, X-Linked 4

MalaCards integrated aliases for Deafness, X-Linked 4:

Name: Deafness, X-Linked 4 58 30 13 6 74
Dfnx4 58 76
Dfn6 58 76
Deafness, Nonsyndromic Sensorineural Progressive 6 58
Deafness Nonsyndromic Sensorineural Progressive 6 76
Deafness, X-Linked 6, Progressive; Dfn6 58
Deafness, X-Linked 6, Progressive 58
Deafness X-Linked 6 Progressive 76
Deafness, X-Linked, Type 4 41
Deafness, X-Linked, 4 76

Characteristics:

OMIM:

58
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:

33
deafness, x-linked 4:
Onset and clinical course childhood onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 58 300066
MeSH 45 D006319
MedGen 43 C1848204
SNOMED-CT via HPO 70 232326009 48758008 60700002
UMLS 74 C1848204

Summaries for Deafness, X-Linked 4

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Deafness, X-Linked 4 is SMPX (Small Muscle Protein X-Linked). Related phenotypes are sensorineural hearing impairment and high-frequency hearing impairment

OMIM : 58 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 7 Deafness, X-Linked 2
Deafness, X-Linked 1 Deafness, Y-Linked 1
Deafness, Y-Linked 2

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 11.5

Symptoms & Phenotypes for Deafness, X-Linked 4

Human phenotypes related to Deafness, X-Linked 4:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 high-frequency hearing impairment 33 HP:0005101

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural
hearing loss first affects high frequencies

Clinical features from OMIM:

300066

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 30 SMPX

Anatomical Context for Deafness, X-Linked 4

Publications for Deafness, X-Linked 4

Articles related to Deafness, X-Linked 4:

# Title Authors Year
1
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. ( 22911656 )
2013
2
Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. ( 21893181 )
2011
3
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. ( 21549336 )
2011
4
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. ( 21549342 )
2011
5
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. ( 8872482 )
1996

Variations for Deafness, X-Linked 4

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPX NM_014332.2(SMPX): c.133-1G> A single nucleotide variant Likely pathogenic rs1060499590 GRCh38 Chromosome X, 21737698: 21737698
2 SMPX NM_014332.2(SMPX): c.133-1G> A single nucleotide variant Likely pathogenic rs1060499590 GRCh37 Chromosome X, 21755816: 21755816
3 SMPX NM_014332.2(SMPX): c.99delC (p.Arg34Glufs) deletion Pathogenic rs398122930 GRCh38 Chromosome X, 21743783: 21743783
4 SMPX NM_014332.2(SMPX): c.99delC (p.Arg34Glufs) deletion Pathogenic rs398122930 GRCh37 Chromosome X, 21761901: 21761901
5 SMPX NM_014332.2(SMPX): c.130delG (p.Glu44Argfs) deletion Pathogenic rs398122848 GRCh38 Chromosome X, 21743752: 21743752
6 SMPX NM_014332.2(SMPX): c.130delG (p.Glu44Argfs) deletion Pathogenic rs398122848 GRCh37 Chromosome X, 21761870: 21761870
7 SMPX NM_014332.2(SMPX): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 GRCh38 Chromosome X, 21737616: 21737616
8 SMPX NM_014332.2(SMPX): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 GRCh37 Chromosome X, 21755734: 21755734
9 SMPX NM_014332.2(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 GRCh38 Chromosome X, 21743773: 21743773
10 SMPX NM_014332.2(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 GRCh37 Chromosome X, 21761891: 21761891
11 SMPX NM_014332.2(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 GRCh38 Chromosome X, 21737655: 21737655
12 SMPX NM_014332.2(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 GRCh37 Chromosome X, 21755773: 21755773

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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