DFNY2
MCID: DFN372
MIFTS: 11

Deafness, Y-Linked 2 (DFNY2)

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

Aliases & Classifications for Deafness, Y-Linked 2

MalaCards integrated aliases for Deafness, Y-Linked 2:

Name: Deafness, Y-Linked 2 58 6
Dfny2 58

Characteristics:

OMIM:

58
Inheritance:
y-linked

Miscellaneous:
onset in third to fifth decades of life
based on report of 1 family (last curated april 2018)


Classifications:



External Ids:

OMIM 58 400047

Summaries for Deafness, Y-Linked 2

OMIM : 58 Y-linked deafness-2 (DFNY2) is characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life (Di Stazio et al., 2019). For a discussion of genetic heterogeneity of Y-linked deafness, see DFNY1 (400043). (400047)

MalaCards based summary : Deafness, Y-Linked 2, is also known as dfny2. An important gene associated with Deafness, Y-Linked 2 is TBL1Y (Transducin Beta Like 1 Y-Linked).

Related Diseases for Deafness, Y-Linked 2

Symptoms & Phenotypes for Deafness, Y-Linked 2

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural, mild (bilateral symmetric)

Clinical features from OMIM:

400047

Drugs & Therapeutics for Deafness, Y-Linked 2

Search Clinical Trials , NIH Clinical Center for Deafness, Y-Linked 2

Genetic Tests for Deafness, Y-Linked 2

Anatomical Context for Deafness, Y-Linked 2

Publications for Deafness, Y-Linked 2

Articles related to Deafness, Y-Linked 2:

# Title Authors Year
1
TBL1Y: a new gene involved in syndromic hearing loss. ( 30341416 )
2019

Variations for Deafness, Y-Linked 2

ClinVar genetic disease variations for Deafness, Y-Linked 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBL1Y NM_134259.1(TBL1Y): c.206A> T (p.Asp69Val) single nucleotide variant Pathogenic GRCh38 Chromosome Y, 7063898: 7063898
2 TBL1Y NM_134259.1(TBL1Y): c.206A> T (p.Asp69Val) single nucleotide variant Pathogenic GRCh37 Chromosome Y, 6931939: 6931939

Expression for Deafness, Y-Linked 2

Search GEO for disease gene expression data for Deafness, Y-Linked 2.

Pathways for Deafness, Y-Linked 2

GO Terms for Deafness, Y-Linked 2

Sources for Deafness, Y-Linked 2

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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