MCID: DFN276
MIFTS: 20

Deafness, X-Linked 6

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

Aliases & Classifications for Deafness, X-Linked 6

MalaCards integrated aliases for Deafness, X-Linked 6:

Name: Deafness, X-Linked 6 53 28 69
Dfnx6 53 71
Deafness, X-Linked, 6 71

Characteristics:

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
one family has been reported (last curated january 2014)
prelingual onset in males
female carriers may develop mild hearing loss as adults


HPO:

31
deafness, x-linked 6:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 53 300914
MeSH 41 D006319
UMLS 69 C3806737

Summaries for Deafness, X-Linked 6

UniProtKB/Swiss-Prot : 71 Deafness, X-linked, 6: A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, X-Linked 6, also known as dfnx6, is related to deafness, x-linked 4 and x-linked non-syndromic sensorineural deafness type dfn, and has symptoms including hearing impairment and cochlear malformation. An important gene associated with Deafness, X-Linked 6 is COL4A6 (Collagen Type IV Alpha 6 Chain). Affiliated tissues include brain, and related phenotype is normal.

Description from OMIM: 300914

Related Diseases for Deafness, X-Linked 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 4 11.4
2 x-linked non-syndromic sensorineural deafness type dfn 9.4 COL4A6 SMPX

Symptoms & Phenotypes for Deafness, X-Linked 6

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
deafness, sensorineural, bilateral
cochlear malformation
incomplete separation of the cochlea from the internal auditory canal


Clinical features from OMIM:

300914

Human phenotypes related to Deafness, X-Linked 6:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 cochlear malformation 31 HP:0008554

MGI Mouse Phenotypes related to Deafness, X-Linked 6:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 COL4A6 SMPX

Drugs & Therapeutics for Deafness, X-Linked 6

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 6

Genetic Tests for Deafness, X-Linked 6

Genetic tests related to Deafness, X-Linked 6:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 6 28 COL4A6

Anatomical Context for Deafness, X-Linked 6

MalaCards organs/tissues related to Deafness, X-Linked 6:

38
Brain

Publications for Deafness, X-Linked 6

Variations for Deafness, X-Linked 6

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 6:

71
# Symbol AA change Variation ID SNP ID
1 COL4A6 p.Gly591Ser VAR_070936 rs779748859

ClinVar genetic disease variations for Deafness, X-Linked 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A6 NM_001847.3(COL4A6): c.1771G> A (p.Gly591Ser) single nucleotide variant Pathogenic rs779748859 GRCh37 Chromosome X, 107430509: 107430509

Expression for Deafness, X-Linked 6

Search GEO for disease gene expression data for Deafness, X-Linked 6.

Pathways for Deafness, X-Linked 6

GO Terms for Deafness, X-Linked 6

Sources for Deafness, X-Linked 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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