MCID: HRD199
MIFTS: 12

Hereditary Hearing Loss and Deafness

Categories: Ear diseases

Aliases & Classifications for Hereditary Hearing Loss and Deafness

MalaCards integrated aliases for Hereditary Hearing Loss and Deafness:

Name: Hereditary Hearing Loss and Deafness 24 29 6

Classifications:



Summaries for Hereditary Hearing Loss and Deafness

MalaCards based summary : Hereditary Hearing Loss and Deafness is related to x-linked non-syndromic sensorineural deafness type dfn and deafness, x-linked 2. An important gene associated with Hereditary Hearing Loss and Deafness is SF3B4 (Splicing Factor 3b Subunit 4).

GeneReviews: NBK1434

Related Diseases for Hereditary Hearing Loss and Deafness

Graphical network of the top 20 diseases related to Hereditary Hearing Loss and Deafness:



Diseases related to Hereditary Hearing Loss and Deafness

Symptoms & Phenotypes for Hereditary Hearing Loss and Deafness

Drugs & Therapeutics for Hereditary Hearing Loss and Deafness

Search Clinical Trials , NIH Clinical Center for Hereditary Hearing Loss and Deafness

Genetic Tests for Hereditary Hearing Loss and Deafness

Genetic tests related to Hereditary Hearing Loss and Deafness:

# Genetic test Affiliating Genes
1 Hereditary Hearing Loss and Deafness 29 MT-CO1 POU3F4 PRPS1 MT-RNR1 SMPX MT-TS1

Anatomical Context for Hereditary Hearing Loss and Deafness

Publications for Hereditary Hearing Loss and Deafness

Articles related to Hereditary Hearing Loss and Deafness:

# Title Authors Year
1
Hereditary hearing loss and deafness genes in Japan. ( 20437760 )
2010

Variations for Hereditary Hearing Loss and Deafness

ClinVar genetic disease variations for Hereditary Hearing Loss and Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SF3B4 NM_005850.4(SF3B4): c.827delC (p.Pro276Hisfs) deletion Pathogenic GRCh37 Chromosome 1, 149897814: 149897814
2 SF3B4 NM_005850.4(SF3B4): c.827delC (p.Pro276Hisfs) deletion Pathogenic GRCh38 Chromosome 1, 149925922: 149925922

Expression for Hereditary Hearing Loss and Deafness

Search GEO for disease gene expression data for Hereditary Hearing Loss and Deafness.

Pathways for Hereditary Hearing Loss and Deafness

GO Terms for Hereditary Hearing Loss and Deafness

Biological processes related to Hereditary Hearing Loss and Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.96 EYA1 POU3F4
2 cochlea morphogenesis GO:0090103 8.62 EYA1 POU3F4

Sources for Hereditary Hearing Loss and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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