MCID: DFN146
MIFTS: 16

Deafness, X-Linked 3

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

Aliases & Classifications for Deafness, X-Linked 3

MalaCards integrated aliases for Deafness, X-Linked 3:

Name: Deafness, X-Linked 3 53 13 69
Deafness, X-Linked 4, Congenital Sensorineural; Dfn4 53
Deafness, X-Linked 4, Congenital Sensorineural 53
Dfnx3 53
Dfn4 53

Characteristics:

OMIM:

53
Inheritance:
x-linked form


HPO:

31
deafness, x-linked 3:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 53 300030
MedGen 39 C3888089
SNOMED-CT via HPO 65 700453005
UMLS 69 C3888089

Summaries for Deafness, X-Linked 3

MalaCards based summary : Deafness, X-Linked 3, also known as deafness, x-linked 4, congenital sensorineural; dfn4, is related to deafness, x-linked 4 and x-linked nonsyndromic deafness, and has symptoms including congenital sensorineural hearing impairment An important gene associated with Deafness, X-Linked 3 is DFNX3 (Deafness, X-Linked 3).

Description from OMIM: 300030

Related Diseases for Deafness, X-Linked 3

Diseases in the X-Linked Nonsyndromic Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 5 Deafness, X-Linked 6
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1

Diseases related to Deafness, X-Linked 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 4 10.9
2 x-linked nonsyndromic deafness 10.9

Symptoms & Phenotypes for Deafness, X-Linked 3

Symptoms via clinical synopsis from OMIM:

53
Ears:
congenital severe sensorineural hearing loss

Misc:
mild delayed manifestation in carrier females


Clinical features from OMIM:

300030

Human phenotypes related to Deafness, X-Linked 3:

31
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 31 HP:0008527

Drugs & Therapeutics for Deafness, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 3

Genetic Tests for Deafness, X-Linked 3

Anatomical Context for Deafness, X-Linked 3

Publications for Deafness, X-Linked 3

Variations for Deafness, X-Linked 3

Expression for Deafness, X-Linked 3

Search GEO for disease gene expression data for Deafness, X-Linked 3.

Pathways for Deafness, X-Linked 3

GO Terms for Deafness, X-Linked 3

Sources for Deafness, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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