DCUA
MCID: DFN360
MIFTS: 39

Deafness, Autosomal Dominant 69 (DCUA)

Categories: Blood diseases, 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 75
Deafness, Congenital, Unilateral or Asymmetric 57 75
Autosomal Dominant Nonsyndromic Deafness 69 12 15
Dfna69 57 12
Deafness, Autosomal Dominant 69, Unilateral or Asymmetric 57
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
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 69:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616697
Disease Ontology 12 DOID:0110590
ICD10 33 H90.3 H91.8
SNOMED-CT via HPO 69 263681008 60700002

Summaries for Deafness, Autosomal Dominant 69

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Deafness, Autosomal Dominant 69 is KITLG (KIT Ligand), and among its related pathways/superpathways are Cushing syndrome and Carbon metabolism. Affiliated tissues include skin and bone, and related phenotypes are sensorineural hearing impairment 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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related 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 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 11.0
2 sensorineural hearing loss 10.8
3 abruzzo-erickson syndrome 10.3
4 deafness, autosomal recessive 88 10.3
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 auditory neuropathy spectrum disorder 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:

57
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:

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

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

26 (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 29 KITLG

Anatomical Context for Deafness, Autosomal Dominant 69

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

41
Skin, Bone

Publications for Deafness, Autosomal Dominant 69

Articles related to Deafness, Autosomal Dominant 69:

# Title Authors Year
1
DcuA of aerobically grown Escherichia coli serves as a nitrogen shuttle (L-aspartate/fumarate) for nitrogen uptake. ( 29995997 )
2018
2
Topological analysis of DcuA, an anaerobic C4-dicarboxylate transporter of Escherichia coli. ( 9733683 )
1998
3
Transcriptional regulation and organization of the dcuA and dcuB genes, encoding homologous anaerobic C4-dicarboxylate transporters in Escherichia coli. ( 9852003 )
1998
4
Escherichia coli possesses two homologous anaerobic C4-dicarboxylate membrane transporters (DcuA and DcuB) distinct from the aerobic dicarboxylate transport system (Dct). ( 7961398 )
1994

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.286_303del18insT (p.Ser96Terfs) indel Pathogenic rs864309653 GRCh38 Chromosome 12, 88518757: 88518774
3 KITLG NM_000899.4(KITLG): c.200_202delATT (p.His67_Cys68delinsArg) deletion Pathogenic rs864309654 GRCh37 Chromosome 12, 88912635: 88912637
4 KITLG NM_000899.4(KITLG): c.200_202delATT (p.His67_Cys68delinsArg) deletion Pathogenic rs864309654 GRCh38 Chromosome 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
Show member pathways
11.56 FH KITLG
2
Show member pathways
11.28 FH SDS
3 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
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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