MCID: DFN360
MIFTS: 30

Deafness, Autosomal Dominant 69

Categories: Genetic diseases, Ear diseases, Rare diseases, Neuronal diseases, Fetal diseases, Cardiovascular diseases, Blood diseases

Aliases & Classifications for Deafness, Autosomal Dominant 69

MalaCards integrated aliases for Deafness, Autosomal Dominant 69:

Name: Deafness, Autosomal Dominant 69 53 28
Dcua 53 12 71
Deafness, Congenital, Unilateral or Asymmetric 53 71
Autosomal Dominant Nonsyndromic Deafness 69 12 14
Dfna69 53 12
Deafness, Autosomal Dominant 69, Unilateral or Asymmetric 53
Deafness, Congenital, Unilateral or Asymmetric; Dcua 53
Unilateral or Asymmetric Congenital Deafness 12
Autosomal Dominant Deafness 69 12
Hearing Loss, Unilateral 41

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 69:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 616697
Disease Ontology 12 DOID:0110590
ICD10 32 H90.3 H91.8
SNOMED-CT via HPO 65 263681008 60700002

Summaries for Deafness, Autosomal Dominant 69

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, also known as dcua, is related to choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome and sensorineural hearing loss, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 69 is KITLG (KIT Ligand), and among its related pathways/superpathways are Carbon metabolism and Amino Acid metabolism. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the KITLG gene on chromosome 12q21.

Description from OMIM: 616697

Related Diseases for Deafness, Autosomal Dominant 69

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

# Related Disease Score Top Affiliating Genes
1 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.9
2 sensorineural hearing loss 10.6
3 abruzzo-erickson syndrome 10.2
4 deafness, autosomal recessive 88 10.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8

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



Diseases related to Deafness, Autosomal Dominant 69

Symptoms & Phenotypes for Deafness, Autosomal Dominant 69

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, congenital unilateral or bilateral asymmetric
subclinical vestibular dysfunction (in some patients)


Clinical features from OMIM:

616697

Human phenotypes related to Deafness, Autosomal Dominant 69:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 69 according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.5 KITLG
2 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 CTSA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.5 CTSA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.5 KITLG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.5 CTSA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 CTSA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.5 CTSA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.5 KITLG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 CTSA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.5 CTSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.5 KITLG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 CTSA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 CTSA KITLG
14 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.5 CTSA

Drugs & Therapeutics for Deafness, Autosomal Dominant 69

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 69

Cochrane evidence based reviews: hearing loss, unilateral

Genetic Tests for Deafness, Autosomal Dominant 69

Genetic tests related to Deafness, Autosomal Dominant 69:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 69 28 KITLG

Anatomical Context for Deafness, Autosomal Dominant 69

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

38
Skin

Publications for Deafness, Autosomal Dominant 69

Variations for Deafness, Autosomal Dominant 69

ClinVar genetic disease variations for Deafness, Autosomal Dominant 69:

6
# 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

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

Pathways for Deafness, Autosomal Dominant 69

Pathways related to Deafness, Autosomal Dominant 69 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 FH SDS
2 10.76 FH ODC1 SDS

GO Terms for Deafness, Autosomal Dominant 69

Molecular functions related to Deafness, Autosomal Dominant 69 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.8 FH ODC1 SDS

Sources for Deafness, Autosomal Dominant 69

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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