MCID: DFN276
MIFTS: 20

Deafness, X-Linked 6

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

Aliases & Classifications for Deafness, X-Linked 6

MalaCards integrated aliases for Deafness, X-Linked 6:

Name: Deafness, X-Linked 6 57 29 6 73
Dfnx6 57 75
Deafness, X-Linked, Type 6 40
Deafness, X-Linked, 6 75

Characteristics:

OMIM:

57
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:

32
deafness, x-linked 6:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300914
MeSH 44 D006319
UMLS 73 C3806737

Summaries for Deafness, X-Linked 6

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Deafness, X-Linked 6 is COL4A6 (Collagen Type IV Alpha 6 Chain). Affiliated tissues include brain, and related phenotypes are hearing impairment and cochlear malformation

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 9.0 COL4A6 SMPX

Symptoms & Phenotypes for Deafness, X-Linked 6

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 cochlear malformation 32 HP:0008554

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

46
# 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 29 COL4A6

Anatomical Context for Deafness, X-Linked 6

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

41
Brain

Publications for Deafness, X-Linked 6

Variations for Deafness, X-Linked 6

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

75
# 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
2 COL4A6 NM_001847.3(COL4A6): c.1771G> A (p.Gly591Ser) single nucleotide variant Pathogenic rs779748859 GRCh38 Chromosome X, 108187279: 108187279

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
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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