DFNX4
MCID: DFN147
MIFTS: 23

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 56 29 13 6 71
Dfnx4 56 73
Dfn6 56 73
Deafness, Nonsyndromic Sensorineural Progressive 6 56
Deafness Nonsyndromic Sensorineural Progressive 6 73
Deafness, X-Linked 6, Progressive; Dfn6 56
Deafness, X-Linked 6, Progressive 56
Deafness X-Linked 6 Progressive 73
Deafness, X-Linked, Type 4 39
Deafness, X-Linked, 4 73

Characteristics:

OMIM:

56
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:
Onset and clinical course childhood onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 56 300066
OMIM Phenotypic Series 56 PS304500
MeSH 43 D006319
MedGen 41 C1848204
SNOMED-CT via HPO 68 232326009 48758008 60700002
UMLS 71 C1848204

Summaries for Deafness, X-Linked 4

UniProtKB/Swiss-Prot : 73 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 : 56 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 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:

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

Symptoms via clinical synopsis from OMIM:

56
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 12)
# Title Authors PMID Year
1
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 61 56 6
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. 61 56 6
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. 56 6
22911656 2013
4
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 56 6
8872482 1996
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
6
Sex-linked deafness. 56
18005182 2008
7
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
8
Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. 61
31478598 2019
9
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018
10
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. 61
29287879 2018
11
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. 61
24687041 2014
12
Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 61
21893181 2011

Variations for Deafness, X-Linked 4

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPX NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)SNV Pathogenic 29946 rs387906707 X:21761891-21761891 X:21743773-21743773
2 SMPX NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)SNV Pathogenic 29947 rs387906708 X:21755734-21755734 X:21737616-21737616
3 SMPX NM_014332.3(SMPX):c.130del (p.Glu44fs)deletion Pathogenic 29948 rs398122848 X:21761870-21761870 X:21743752-21743752
4 SMPX NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)SNV Pathogenic 29945 rs387906706 X:21755773-21755773 X:21737655-21737655
5 SMPX NM_014332.3(SMPX):c.99del (p.Arg34fs)deletion Pathogenic 40063 rs398122930 X:21761901-21761901 X:21743783-21743783
6 SMPX NM_014332.3(SMPX):c.133-1G>ASNV Likely pathogenic 417903 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....