DFNX4
MCID: DFN147
MIFTS: 24

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 57 29 13 6 72
Dfnx4 57 74
Dfn6 57 74
Deafness, Nonsyndromic Sensorineural Progressive 6 57
Deafness Nonsyndromic Sensorineural Progressive 6 74
Deafness, X-Linked 6, Progressive; Dfn6 57
Deafness, X-Linked 6, Progressive 57
Deafness X-Linked 6 Progressive 74
Deafness, X-Linked, Type 4 40
Deafness, X-Linked, 4 74

Characteristics:

OMIM:

57
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:

32
deafness, x-linked 4:
Onset and clinical course childhood onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

MeSH 44 D006319
MedGen 42 C1848204
UMLS 72 C1848204

Summaries for Deafness, X-Linked 4

UniProtKB/Swiss-Prot : 74 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. 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 : 57 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 Deafness, X-Linked 2 family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 5 Deafness, X-Linked 6
Deafness, X-Linked 7 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

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 11.6
2 branchiootic syndrome 1 10.3
3 age-related hearing loss 10.3
4 x-linked non-syndromic sensorineural deafness type dfn 10.2

Symptoms & Phenotypes for Deafness, X-Linked 4

Human phenotypes related to Deafness, X-Linked 4:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 high-frequency hearing impairment 32 HP:0005101

Symptoms via clinical synopsis from OMIM:

57
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 29 SMPX

Anatomical Context for Deafness, X-Linked 4

Publications for Deafness, X-Linked 4

Articles related to Deafness, X-Linked 4:

(show all 11)
# Title Authors PMID Year
1
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 38 8 71
21549336 2011
2
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. 38 8 71
21549342 2011
3
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. 8 71
22911656 2013
4
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 8 71
8872482 1996
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
6
Sex-linked deafness. 8
18005182 2008
7
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
8
X-Linked Sensorineural Hearing Loss: A Literature Review. 38
30065609 2018
9
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. 38
29287879 2018
10
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. 38
24687041 2014
11
Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 38
21893181 2011

Variations for Deafness, X-Linked 4

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMPX NM_014332.3(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 X:21755773-21755773 X:21737655-21737655
2 SMPX NM_014332.3(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 X:21761891-21761891 X:21743773-21743773
3 SMPX NM_014332.3(SMPX): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 X:21755734-21755734 X:21737616-21737616
4 SMPX NM_014332.3(SMPX): c.130del (p.Glu44fs) deletion Pathogenic rs398122848 X:21761870-21761870 X:21743752-21743752
5 SMPX NM_014332.3(SMPX): c.99del (p.Arg34fs) deletion Pathogenic rs398122930 X:21761901-21761901 X:21743783-21743783
6 SMPX NM_014332.3(SMPX): c.133-1G> A single nucleotide variant Likely pathogenic rs1060499590 X:21755816-21755816 X:21737698-21737698

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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