MCID: PND003
MIFTS: 10

Pendred Syndrome/dfnb4

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Pendred Syndrome/dfnb4

MalaCards integrated aliases for Pendred Syndrome/dfnb4:

Name: Pendred Syndrome/dfnb4 23 24
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct and Goiter 24
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct,goiter 23
Dfnb 4 Nonsyndromic Hearing Impairment and Eva 24
Dfnb 4 Nonsyndromic Hearing Loss and Deafness 24
Dfnb 4 Nonsyndromic Hearing Impairmenteva 23
Dfnb 4 Nonsyndromic Hearing Lossdeafness 23
Ns-Eva 24

Classifications:



Summaries for Pendred Syndrome/dfnb4

MalaCards based summary : Pendred Syndrome/dfnb4, also known as autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct and goiter, is related to pendred syndrome. An important gene associated with Pendred Syndrome/dfnb4 is SLC26A4 (Solute Carrier Family 26 Member 4).

GeneReviews: NBK1467

Related Diseases for Pendred Syndrome/dfnb4

Diseases related to Pendred Syndrome/dfnb4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pendred syndrome 11.5

Symptoms & Phenotypes for Pendred Syndrome/dfnb4

Drugs & Therapeutics for Pendred Syndrome/dfnb4

Search Clinical Trials , NIH Clinical Center for Pendred Syndrome/dfnb4

Genetic Tests for Pendred Syndrome/dfnb4

Genetic tests related to Pendred Syndrome/dfnb4:

id Genetic test Affiliating Genes
1 Pendred Syndrome/dfnb4 24 SLC26A4

Anatomical Context for Pendred Syndrome/dfnb4

Publications for Pendred Syndrome/dfnb4

Articles related to Pendred Syndrome/dfnb4:

id Title Authors Year
1
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. ( 23336812 )
2013
2
Pendred Syndrome/DFNB4 ( 20301640 )
1993

Variations for Pendred Syndrome/dfnb4

Expression for Pendred Syndrome/dfnb4

Search GEO for disease gene expression data for Pendred Syndrome/dfnb4.

Pathways for Pendred Syndrome/dfnb4

GO Terms for Pendred Syndrome/dfnb4

Sources for Pendred Syndrome/dfnb4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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