MCID: DFN147
MIFTS: 20

Deafness, X-Linked 4

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Mental 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 73
Dfnx4 57 75
Dfn6 57 75
Deafness, Nonsyndromic Sensorineural Progressive 6 57
Deafness Nonsyndromic Sensorineural Progressive 6 75
Deafness, X-Linked 6, Progressive; Dfn6 57
Deafness, X-Linked 6, Progressive 57
Deafness X-Linked 6 Progressive 75
Deafness, X-Linked, Type 4 40
Deafness, X-Linked, 4 75

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


Classifications:



External Ids:

OMIM 57 300066
MedGen 42 C1848204
MeSH 44 D006319
SNOMED-CT via HPO 69 60700002 232326009 48758008
UMLS 73 C1848204

Summaries for Deafness, X-Linked 4

UniProtKB/Swiss-Prot : 75 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 x-linked nonsyndromic deafness. 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 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 x-linked nonsyndromic deafness 9.0 DFNX3 SMPX

Symptoms & Phenotypes for Deafness, X-Linked 4

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

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

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

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.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 GRCh38 Chromosome X, 21737616: 21737616
2 SMPX NM_014332.2(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 GRCh37 Chromosome X, 21755773: 21755773
3 SMPX NM_014332.2(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 GRCh38 Chromosome X, 21737655: 21737655
4 SMPX NM_014332.2(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 GRCh37 Chromosome X, 21761891: 21761891
5 SMPX NM_014332.2(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 GRCh38 Chromosome X, 21743773: 21743773
6 SMPX NM_014332.2(SMPX): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 GRCh37 Chromosome X, 21755734: 21755734
7 SMPX NM_014332.2(SMPX): c.130delG (p.Glu44Argfs) deletion Pathogenic rs398122848 GRCh37 Chromosome X, 21761870: 21761870
8 SMPX NM_014332.2(SMPX): c.130delG (p.Glu44Argfs) deletion Pathogenic rs398122848 GRCh38 Chromosome X, 21743752: 21743752
9 SMPX NM_014332.2(SMPX): c.99delC (p.Arg34Glufs) deletion Pathogenic rs398122930 GRCh37 Chromosome X, 21761901: 21761901
10 SMPX NM_014332.2(SMPX): c.99delC (p.Arg34Glufs) deletion Pathogenic rs398122930 GRCh38 Chromosome X, 21743783: 21743783
11 SMPX NM_014332.2(SMPX): c.133-1G> A single nucleotide variant Likely pathogenic rs1060499590 GRCh37 Chromosome X, 21755816: 21755816
12 SMPX NM_014332.2(SMPX): c.133-1G> A single nucleotide variant Likely pathogenic rs1060499590 GRCh38 Chromosome 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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