DFNM1
MCID: DFN363
MIFTS: 12

Deafness, Autosomal Recessive 26, Modifier of (DFNM1)

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 58 6
Deafness, Nonsyndromic, Modifier 1 58 13
Deafness, Nonsyndromic, Modifier of, 1; Dfnm1 58
Deafness, Nonsyndromic, Modifier of, 1 58
Dfnb26, Suppressor of 58
Dfnb26, Modifier of 58
Dfnb26m 58
Dfnm1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 58 605429
MedGen 43 C1854274

Summaries for Deafness, Autosomal Recessive 26, Modifier of

OMIM : 58 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)

MalaCards based summary : Deafness, Autosomal Recessive 26, Modifier of, also known as deafness, nonsyndromic, modifier 1, is related to perrault syndrome 1. An important gene associated with Deafness, Autosomal Recessive 26, Modifier of is DFNM1 (Deafness (Recessive, Non-Syndromic) Modifier 1).

Related Diseases for Deafness, Autosomal Recessive 26, Modifier of

Diseases related to Deafness, Autosomal Recessive 26, Modifier of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
normal hearing despite being homozygous for a deafness-causing mutation in the gab1 gene

Clinical features from OMIM:

605429

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

Variations for Deafness, Autosomal Recessive 26, Modifier of

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EEF1AKNMT NM_015935.4(EEF1AKNMT): c.1631G> A (p.Arg544Gln) single nucleotide variant risk factor GRCh38 Chromosome 1, 171792173: 171792173
2 EEF1AKNMT NM_015935.4(EEF1AKNMT): c.1631G> A (p.Arg544Gln) single nucleotide variant risk factor GRCh37 Chromosome 1, 171761313: 171761313

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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