DFNY2
MCID: DFN372
MIFTS: 16

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 57 72 29 6
Dfny2 57 12 72
Y-Linked Deafness 2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
y-linked

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


HPO:

31
deafness, y-linked 2:
Inheritance y-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111758
OMIM® 57 400047
OMIM Phenotypic Series 57 PS400043
MeSH 44 D006319
SNOMED-CT via HPO 68 60700002

Summaries for Deafness, Y-Linked 2

UniProtKB/Swiss-Prot : 72 Deafness, Y-linked 2: A form of non-syndromic sensorineural hearing loss. 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. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life.

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 phenotype is sensorineural hearing impairment.

Disease Ontology : 12 A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has material basis in mutation in TBL1Y on chromosome Yp11.2.

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Deafness, Y-Linked 2

Symptoms & Phenotypes for Deafness, Y-Linked 2

Human phenotypes related to Deafness, Y-Linked 2:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural, mild (bilateral symmetric)

Clinical features from OMIM®:

400047 (Updated 20-May-2021)

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

Genetic tests related to Deafness, Y-Linked 2:

# Genetic test Affiliating Genes
1 Deafness, Y-Linked 2 29 TBL1Y

Anatomical Context for Deafness, Y-Linked 2

Publications for Deafness, Y-Linked 2

Articles related to Deafness, Y-Linked 2:

# Title Authors PMID Year
1
TBL1Y: a new gene involved in syndromic hearing loss. 57 6
30341416 2019

Variations for Deafness, Y-Linked 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBL1Y NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val) SNV Pathogenic 625467 rs199659121 GRCh37: Y:6931939-6931939
GRCh38: Y:7063898-7063898

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
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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