DFNA69
MCID: DFN360
MIFTS: 34

Deafness, Autosomal Dominant 69 (DFNA69)

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

Aliases & Classifications for Deafness, Autosomal Dominant 69

MalaCards integrated aliases for Deafness, Autosomal Dominant 69:

Name: Deafness, Autosomal Dominant 69 57 29 6
Dcua 57 12 72
Deafness, Autosomal Dominant 69, Unilateral or Asymmetric 57 29
Deafness, Congenital, Unilateral or Asymmetric 57 72
Autosomal Dominant Nonsyndromic Deafness 69 12 15
Dfna69 57 12
Deafness, Congenital, Unilateral or Asymmetric; Dcua 57
Unilateral or Asymmetric Congenital Deafness 12
Autosomal Dominant Deafness 69 12
Hearing Loss, Unilateral 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0110590
OMIM® 57 616697
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
SNOMED-CT via HPO 68 263681008 60700002

Summaries for Deafness, Autosomal Dominant 69

UniProtKB/Swiss-Prot : 72 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 burn-mckeown syndrome and abruzzo-erickson syndrome. An important gene associated with Deafness, Autosomal Dominant 69 is KITLG (KIT Ligand), and among its related pathways/superpathways is Amino Acid metabolism. The drug Silver sulfadiazine has been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotype is sensorineural hearing impairment.

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

More information from OMIM: 616697 PS124900

Related Diseases for Deafness, Autosomal Dominant 69

Diseases in the Rare Deafness family:

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 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 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
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

# Related Disease Score Top Affiliating Genes
1 burn-mckeown syndrome 11.0
2 abruzzo-erickson syndrome 10.2
3 deafness, autosomal recessive 88 10.2
4 sensorineural hearing loss 10.2
5 human monocytic ehrlichiosis 9.9 GRPEL1 CLPB
6 permanent neonatal diabetes mellitus 9.8 HSPE1 CUTA

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

Human phenotypes related to Deafness, Autosomal Dominant 69:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, congenital unilateral or bilateral asymmetric
subclinical vestibular dysfunction (in some patients)

Clinical features from OMIM®:

616697 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 69

Drugs for Deafness, Autosomal Dominant 69 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved 22199-08-2 441244

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 Remote Microphone Technology in Pediatric Bone Anchored Implant Recipients Completed NCT03149484
3 Study of Binaural Squelch Effect Among Patients Undergoing Unilateral Otosclerosis Surgery: Comparison of Understanding in Noise Before-after Surgery Completed NCT03587792
4 Long Term Safety of the Sonitus SoundBite System Completed NCT01108406
5 Bone Conduction Auditory Performance Via the Tooth for Single-Sided Deafness Completed NCT00977314
6 Evaluation of Audiological Outcomes and Subjective Benefits of Cochlear Baha® 5 SuperPower Sound Processor on the Baha® Attractâ„¢ System Completed NCT02722330
7 Short-term and Long-term Efficacy of the BAHA for Single Sided Deafness Completed NCT00201617
8 Reorganization of Central Auditory System After Single Sided Deafness: a Functional Magnetic Resonance Imaging Study Completed NCT02534298
9 Clinical Survey of Minimally Invasive Ponto Surgical Technique (MIPS) Completed NCT03281967
10 A Comparison Between Wireless CROS and Bone-anchored Hearing Devices for Single-Sided Deafness: A Pilot Study Completed NCT01715948
11 Early Experience of a New Implant System for Bone Conduction Hearing in the Pediatric Population Completed NCT03509974
12 Evaluation of the Baha SoundArc in Pediatric Patients Completed NCT03333577
13 Single-Sided Deafness and Asymmetric Hearing Loss Post-Approval Study Recruiting NCT04506853
14 Functional Near Infra-Red Spectroscopic Study of Central Auditory System Cortical Functional Reorganization in Unilateral Deaf Children Recruiting NCT04043910
15 Comparative Study of Non-invasive Adhear Bone Conduction System to Traditional Bone Conduction Hearing Devices Recruiting NCT03533686
16 The BCI 602 BONEBRIDGE Post-Market Clinical Follow-up Study Recruiting NCT04427033
17 Investigating Hearing With Ponto 3 SuperPower, a Bone Anchored Hearing Aid - Investigating Hear Recruiting NCT04803279
18 Cochlear Implantation in Pediatric Cases of Unilateral Hearing Loss Active, not recruiting NCT02963974
19 Iowa Cochlear Implant Clinical Research Center Study of SSD Using Med-El Cochlear Implants Active, not recruiting NCT03929809
20 Use of Amplification in Children With Unilateral Hearing Loss Active, not recruiting NCT02269124
21 Clinical Study of Minimally Invasive Ponto Surgical Technique (MIPS) - Design Iteration Active, not recruiting NCT03807713
22 Cochlear Implantation in Children With Asymmetric Hearing Loss or Single-Sided Deafness Clinical Trial Not yet recruiting NCT04793412
23 Cochlear Implantation for Treatment of Single-sided Deafness Terminated NCT02532972
24 Unilateral Blindness/ Unilateral Deafness-relation to Neck Pain Terminated NCT00589407

Search 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 29 KITLG
2 Deafness, Autosomal Dominant 69, Unilateral or Asymmetric 29

Anatomical Context for Deafness, Autosomal Dominant 69

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

40
Bone, Skin

Publications for Deafness, Autosomal Dominant 69

Articles related to Deafness, Autosomal Dominant 69:

(show all 23)
# Title Authors PMID Year
1
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 57 6
26522471 2015
2
C4-dicarboxylates and L-aspartate utilization by Escherichia coli K-12 in the mouse intestine: L-aspartate as a major substrate for fumarate respiration and as a nitrogen source. 61
33754467 2021
3
L-Aspartate as a high-quality nitrogen source in Escherichia coli: Regulation of L-aspartase by the nitrogen regulatory system and interaction of L-aspartase with GlnB. 61
33012071 2020
4
Identification of major malate export systems in an engineered malate-producing Escherichia coli aided by substrate similarity search. 61
31641813 2019
5
Aspartate metabolism is involved in the maintenance of enterohaemorrhagic Escherichia coli O157:H7 in bovine intestinal content. 61
30109758 2018
6
DcuA of aerobically grown Escherichia coli serves as a nitrogen shuttle (L-aspartate/fumarate) for nitrogen uptake. 61
29995997 2018
7
Engineering of Escherichia coli for Krebs cycle-dependent production of malic acid. 61
30012131 2018
8
Function and Regulation of the C4-Dicarboxylate Transporters in Campylobacter jejuni. 61
28223978 2017
9
Activating C4-dicarboxylate transporters DcuB and DcuC for improving succinate production. 61
24323285 2014
10
Coupled amino acid deamidase-transport systems essential for Helicobacter pylori colonization. 61
20368342 2010
11
The fumarate/succinate antiporter DcuB of Escherichia coli is a bifunctional protein with sites for regulation of DcuS-dependent gene expression. 61
18957436 2009
12
Amino acid-dependent growth of Campylobacter jejuni: key roles for aspartase (AspA) under microaerobic and oxygen-limited conditions and identification of AspB (Cj0762), essential for growth on glutamate. 61
18433445 2008
13
Anaerobic growth of Escherichia coli on D-tartrate depends on the fumarate carrier DcuB and fumarase, rather than the L-tartrate carrier TtdT and L-tartrate dehydratase. 61
17643228 2007
14
The L-tartrate/succinate antiporter TtdT (YgjE) of L-tartrate fermentation in Escherichia coli. 61
17172328 2007
15
Genes responsible for anaerobic fumarate and arginine metabolism are involved in growth suppression in Salmonella enterica serovar Typhimurium in vitro, without influencing colonisation inhibition in the chicken in vivo. 61
14654290 2003
16
DctA- and Dcu-independent transport of succinate in Escherichia coli: contribution of diffusion and of alternative carriers. 61
11511871 2001
17
Transport of C(4)-dicarboxylates in Wolinella succinogenes. 61
11004174 2000
18
Functioning of DcuC as the C4-dicarboxylate carrier during glucose fermentation by Escherichia coli. 61
10368146 1999
19
Identification and characterization of a two-component sensor-kinase and response-regulator system (DcuS-DcuR) controlling gene expression in response to C4-dicarboxylates in Escherichia coli. 61
9973351 1999
20
Transcriptional regulation and organization of the dcuA and dcuB genes, encoding homologous anaerobic C4-dicarboxylate transporters in Escherichia coli. 61
9852003 1998
21
Topological analysis of DcuA, an anaerobic C4-dicarboxylate transporter of Escherichia coli. 61
9733683 1998
22
Identification of a third secondary carrier (DcuC) for anaerobic C4-dicarboxylate transport in Escherichia coli: roles of the three Dcu carriers in uptake and exchange. 61
8955408 1996
23
Escherichia coli possesses two homologous anaerobic C4-dicarboxylate membrane transporters (DcuA and DcuB) distinct from the aerobic dicarboxylate transport system (Dct). 61
7961398 1994

Variations for Deafness, Autosomal Dominant 69

ClinVar genetic disease variations for Deafness, Autosomal Dominant 69:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KITLG NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer) Indel Pathogenic 218887 rs864309653 GRCh37: 12:88912534-88912551
GRCh38: 12:88518757-88518774
2 KITLG NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg) Deletion Pathogenic 218888 rs864309654 GRCh37: 12:88912635-88912637
GRCh38: 12:88518858-88518860

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 10.58 SDS SDHA

GO Terms for Deafness, Autosomal Dominant 69

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.1 SDS SDHA HSPE1 GRPEL1 CLPB ADSS2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 UBTD2 TEP1 SDS SDHA KITLG HTRA4

Sources for Deafness, Autosomal Dominant 69

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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