MCID: DFN334
MIFTS: 16

Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

MalaCards integrated aliases for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric:

Name: Deafness, Autosomal Dominant 69, Unilateral or Asymmetric 54
Deafness, Congenital, Unilateral or Asymmetric 71
Hearing Loss, Unilateral 42
Dcua 71

Characteristics:

OMIM:

54
Miscellaneous:
patients do not exhibit skin pigmentation changes
hearing loss is congenital and nonprogressive

Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 69, unilateral or asymmetric:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 616697
MedGen 40 CN234669
ICD10 33 H91.8
SNOMED-CT via HPO 65 263681008 60700002

Summaries for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

UniProtKB/Swiss-Prot : 71 Deafness, congenital, unilateral or asymmetric: An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss.

MalaCards based summary : Deafness, Autosomal Dominant 69, Unilateral or Asymmetric, also known as deafness, congenital, unilateral or asymmetric, is related to dfna69 nonsyndromic hearing loss and deafness and autosomal dominant nonsyndromic deafness 69, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 69, Unilateral or Asymmetric is KITLG (KIT Ligand). Affiliated tissues include skin.

Description from OMIM: 616697

Related Diseases for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Diseases related to Deafness, Autosomal Dominant 69, Unilateral or Asymmetric via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfna69 nonsyndromic hearing loss and deafness 11.3
2 autosomal dominant nonsyndromic deafness 69 10.8
3 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.8
4 deafness, autosomal recessive 88 10.1
5 abruzzo-erickson syndrome 10.1
6 sensorineural hearing loss 10.1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 69, Unilateral or Asymmetric:



Diseases related to Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Symptoms & Phenotypes for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
subclinical vestibular dysfunction (in some patients)
hearing loss, sensorineural, congenital unilateral or bilateral asymmetric


Clinical features from OMIM:

616697

Human phenotypes related to Deafness, Autosomal Dominant 69, Unilateral or Asymmetric:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Cochrane evidence based reviews: hearing loss, unilateral

Genetic Tests for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Anatomical Context for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

MalaCards organs/tissues related to Deafness, Autosomal Dominant 69, Unilateral or Asymmetric:

39
Skin

Publications for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Variations for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

ClinVar genetic disease variations for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KITLG NM_000899.4(KITLG): c.286_303del18insT (p.Ser96Terfs) indel Pathogenic rs864309653 GRCh37 Chromosome 12, 88912534: 88912551
2 KITLG NM_000899.4(KITLG): c.200_202delATT (p.His67_Cys68delinsArg) deletion Pathogenic rs864309654 GRCh37 Chromosome 12, 88912635: 88912637

Expression for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric.

Pathways for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

GO Terms for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

Sources for Deafness, Autosomal Dominant 69, Unilateral or Asymmetric

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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