DFNX6
MCID: DFN276
MIFTS: 29

Deafness, X-Linked 6 (DFNX6)

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

Aliases & Classifications for Deafness, X-Linked 6

MalaCards integrated aliases for Deafness, X-Linked 6:

Name: Deafness, X-Linked 6 57 29 6 70
Dfnx6 57 12 72
X-Linked Deafness 6 12 15
Deafness, X-Linked, Type 6 39
Deafness, X-Linked, 6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
one family has been reported (last curated january 2014)
prelingual onset in males
female carriers may develop mild hearing loss as adults

Inheritance:
x-linked recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111740
OMIM® 57 300914
OMIM Phenotypic Series 57 PS304500
MeSH 44 D006319
UMLS 70 C3806737

Summaries for Deafness, X-Linked 6

UniProtKB/Swiss-Prot : 72 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 deafness, autosomal recessive 1b. An important gene associated with Deafness, X-Linked 6 is COL4A6 (Collagen Type IV Alpha 6 Chain), and among its related pathways/superpathways is Pentose phosphate pathway. Related phenotypes are hearing impairment and cochlear malformation

Disease Ontology : 12 An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has material basis in mutation in COL4A6 on chromosome Xq22.3.

More information from OMIM: 300914 PS304500

Related Diseases for Deafness, X-Linked 6

Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 6 Deafness, X-Linked 7
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Deafness, X-Linked 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 4 30.2 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
2 deafness, autosomal recessive 1b 10.0 SMPX POU3F4
3 charcot-marie-tooth disease type 5 10.0 PRPS1L1 PRPS1
4 phosphoribosylpyrophosphate synthetase superactivity 9.9 PRPS1L1 PRPS1
5 purine-pyrimidine metabolic disorder 9.9 PRPS1L1 PRPS1
6 x-linked non-syndromic sensorineural deafness type dfn 9.9 SMPX PRPS1 COL4A6
7 brown-vialetto-van laere syndrome 9.9 PRPS1L1 PRPS1
8 autosomal dominant nonsyndromic deafness 9.9 SMPX POU3F4
9 opitz-kaveggia syndrome 9.9 PRPS1L1 PRPS1
10 hereditary hearing loss and deafness 9.8 SMPX PRPS1 POU3F4
11 lesch-nyhan syndrome 9.8 PRPS1L1 PRPS1
12 mental retardation, x-linked, syndromic, martin-probst type 9.8 TIMM8A POU3F4
13 charcot-marie-tooth disease, x-linked dominant, 6 9.8 SMPX PRPS1 GPRASP2
14 charcot-marie-tooth disease, x-linked recessive, 5 9.8 PRPS1L1 PRPS1 POU3F4
15 arts syndrome 9.8 PRPS1L1 PRPS1 POU3F4
16 nonsyndromic hearing loss 9.7 PRPS1 POU3F4
17 charcot-marie-tooth disease type x 9.7 PRPS1L1 PRPS1 AIFM1
18 mohr-tranebjaerg syndrome 9.6 TIMM8A SMPX POU3F4
19 charcot-marie-tooth disease x-linked recessive 4 9.5 TIMM8A PRPS1 AIFM1
20 deafness, x-linked 3 9.1 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
21 deafness, x-linked 5, with peripheral neuropathy 9.1 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
22 sensorineural hearing loss 8.9 TIMM8A SMPX PRPS1 POU3F4 COL4A6 AIFM1
23 x-linked nonsyndromic deafness 8.6 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
24 deafness, x-linked 1 8.6 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
25 deafness, x-linked 2 8.6 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6

Graphical network of the top 20 diseases related to Deafness, X-Linked 6:



Diseases related to Deafness, X-Linked 6

Symptoms & Phenotypes for Deafness, X-Linked 6

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
cochlear malformation
deafness, sensorineural, bilateral
incomplete separation of the cochlea from the internal auditory canal

Clinical features from OMIM®:

300914 (Updated 05-Apr-2021)

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

Publications for Deafness, X-Linked 6

Articles related to Deafness, X-Linked 6:

# Title Authors PMID Year
1
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. 57 6
23714752 2014
2
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018

Variations for Deafness, X-Linked 6

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A6 NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) SNV Pathogenic 102425 rs779748859 GRCh37: X:107430509-107430509
GRCh38: X:108187279-108187279
2 COL4A6 NM_033641.4(COL4A6):c.788_791dup (p.Pro265fs) Duplication Pathogenic 1032773 GRCh37: X:107446200-107446201
GRCh38: X:108202970-108202971
3 COL4A6 NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) SNV Likely benign 982952 GRCh37: X:107402862-107402862
GRCh38: X:108159632-108159632

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

72
# Symbol AA change Variation ID SNP ID
1 COL4A6 p.Gly591Ser VAR_070936 rs779748859

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

Cellular components related to Deafness, X-Linked 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial intermembrane space GO:0005758 8.96 TIMM8A AIFM1
2 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1L1 PRPS1

Biological processes related to Deafness, X-Linked 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.37 PRPS1L1 PRPS1
2 purine nucleotide biosynthetic process GO:0006164 9.32 PRPS1L1 PRPS1
3 nucleotide biosynthetic process GO:0009165 9.26 PRPS1L1 PRPS1
4 ribonucleoside monophosphate biosynthetic process GO:0009156 9.16 PRPS1L1 PRPS1
5 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.96 PRPS1L1 PRPS1
6 cellular biosynthetic process GO:0044249 8.62 PRPS1L1 PRPS1

Molecular functions related to Deafness, X-Linked 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase activity GO:0004749 8.62 PRPS1L1 PRPS1

Sources for Deafness, X-Linked 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....