MCID: DFN146
MIFTS: 16

Deafness, X-Linked 3

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

Aliases & Classifications for Deafness, X-Linked 3

MalaCards integrated aliases for Deafness, X-Linked 3:

Name: Deafness, X-Linked 3 57 13 73
Deafness, X-Linked 4, Congenital Sensorineural; Dfn4 57
Deafness, X-Linked 4, Congenital Sensorineural 57
Dfnx3 57
Dfn4 57

Characteristics:

OMIM:

57
Inheritance:
x-linked form


HPO:

32
deafness, x-linked 3:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300030
MedGen 42 C3888089
SNOMED-CT via HPO 69 700453005
UMLS 73 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. An important gene associated with Deafness, X-Linked 3 is DFNX3 (Deafness, X-Linked 3). Related phenotype is congenital sensorineural hearing impairment.

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 32 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
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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