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 54 29 13 69
Deafness Nonsyndromic Sensorineural Progressive 6 71
Deafness X-Linked 6 Progressive 71
Deafness, X-Linked, 4 71
Dfnx4 71
Dfn6 71

Characteristics:

OMIM:

54
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 54 300066
MedGen 40 C1848204
MeSH 42 D006319
SNOMED-CT via HPO 65 60700002 232326009 48758008

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 deafness nonsyndromic sensorineural progressive 6, is related to dfnx4 nonsyndromic hearing loss and deafness and aicardi syndrome, 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 : 54
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 4 Deafness, X-Linked 3
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, X-Linked 6 Deafness, X-Linked 5
Deafness, Y-Linked 1

Diseases related to Deafness, X-Linked 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfnx4 nonsyndromic hearing loss and deafness 10.8
2 aicardi syndrome 9.5 DFNX3 SMPX

Symptoms & Phenotypes for Deafness, X-Linked 4

Symptoms via clinical synopsis from OMIM:

54

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
id 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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, X-Linked 4

Genetic Tests for Deafness, X-Linked 4

Genetic tests related to Deafness, X-Linked 4:

id Genetic test Affiliating Genes
1 Deafness, X-Linked 4 29

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
id Gene Variation Type Significance SNP ID Assembly Location
1 SMPX NM_014332.2(SMPX): c.175G> T (p.Gly59Ter) single nucleotide variant Pathogenic rs387906706 GRCh37 Chromosome X, 21755773: 21755773
2 SMPX NM_014332.2(SMPX): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs387906707 GRCh37 Chromosome X, 21761891: 21761891
3 SMPX NM_014332.2(SMPX): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs387906708 GRCh37 Chromosome X, 21755734: 21755734
4 SMPX NM_014332.2(SMPX): c.130delG (p.Glu44Argfs) deletion Pathogenic rs398122848 GRCh37 Chromosome X, 21761870: 21761870
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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