DFNB26M
MCID: DFN363
MIFTS: 15

Deafness, Autosomal Recessive 26, Modifier of (DFNB26M)

Categories: Ear diseases

Aliases & Classifications for Deafness, Autosomal Recessive 26, Modifier of

MalaCards integrated aliases for Deafness, Autosomal Recessive 26, Modifier of:

Name: Deafness, Autosomal Recessive 26, Modifier of 57 6
Deafness, Nonsyndromic, Modifier 1 57 13
Deafness, Nonsyndromic, Modifier of, 1; Dfnm1 57
Deafness, Nonsyndromic, Modifier of, 1 57
Dfnb26, Suppressor of 57
Dfnb26, Modifier of 57
Dfnb26m 57
Dfnm1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 large consanguineous pakistani family (last curated june 2018)


HPO:

31
deafness, autosomal recessive 26, modifier of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 605429
MedGen 41 C1854274
SNOMED-CT via HPO 68 263681008

Summaries for Deafness, Autosomal Recessive 26, Modifier of

OMIM® : 57 DFNB26M is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene (Yousaf et al., 2018). (605429) (Updated 20-May-2021)

MalaCards based summary : Deafness, Autosomal Recessive 26, Modifier of, also known as deafness, nonsyndromic, modifier 1, is related to deafness, autosomal recessive 2 and deafness, autosomal recessive 3. An important gene associated with Deafness, Autosomal Recessive 26, Modifier of is EEF1AKNMT (EEF1A Lysine And N-Terminal Methyltransferase).

Related Diseases for Deafness, Autosomal Recessive 26, Modifier of

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 26, Modifier of:



Diseases related to Deafness, Autosomal Recessive 26, Modifier of

Symptoms & Phenotypes for Deafness, Autosomal Recessive 26, Modifier of

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
normal hearing despite being homozygous for a deafness-causing mutation in the gab1 gene

Clinical features from OMIM®:

605429 (Updated 20-May-2021)

Drugs & Therapeutics for Deafness, Autosomal Recessive 26, Modifier of

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 26, Modifier of

Genetic Tests for Deafness, Autosomal Recessive 26, Modifier of

Anatomical Context for Deafness, Autosomal Recessive 26, Modifier of

Publications for Deafness, Autosomal Recessive 26, Modifier of

Articles related to Deafness, Autosomal Recessive 26, Modifier of:

# Title Authors PMID Year
1
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 6 57 61
29408807 2018
2
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. 57 61
11101839 2000
3
Strain background effects and genetic modifiers of hearing in mice. 61
16579977 2006
4
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23. 61
14627674 2003

Variations for Deafness, Autosomal Recessive 26, Modifier of

ClinVar genetic disease variations for Deafness, Autosomal Recessive 26, Modifier of:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EEF1AKNMT NM_015935.5(EEF1AKNMT):c.1631G>A (p.Arg544Gln) SNV risk factor 560215 rs145666727 GRCh37: 1:171761313-171761313
GRCh38: 1:171792173-171792173

Expression for Deafness, Autosomal Recessive 26, Modifier of

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 26, Modifier of.

Pathways for Deafness, Autosomal Recessive 26, Modifier of

GO Terms for Deafness, Autosomal Recessive 26, Modifier of

Sources for Deafness, Autosomal Recessive 26, Modifier of

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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