MCID: DFN276
MIFTS: 23

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 54 29 69
Deafness, X-Linked, 6 71
Dfnx6 71

Characteristics:

OMIM:

54
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 54 300914
MeSH 42 D006319

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 deafness, x-linked, 6, is related to deafness, x-linked 4 and dfnx6 nonsyndromic hearing loss and deafness, 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 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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deafness, x-linked 4 11.0
2 dfnx6 nonsyndromic hearing loss and deafness 11.0
3 ciliary dyskinesia, primary, 36, x-linked 9.5 COL4A6 SMPX
4 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms 9.2 COL4A6 SMPX

Symptoms & Phenotypes for Deafness, X-Linked 6

Symptoms via clinical synopsis from OMIM:

54

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
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 COL4A6 SMPX

Drugs & Therapeutics for Deafness, X-Linked 6

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 6

Genetic Tests for Deafness, X-Linked 6

Genetic tests related to Deafness, X-Linked 6:

id Genetic test Affiliating Genes
1 Deafness, X-Linked 6 29

Anatomical Context for Deafness, X-Linked 6

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

39
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
id Symbol AA change Variation ID SNP ID
1 COL4A6 p.Gly591Ser VAR_070936 rs779748859

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

6
id 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
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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