DFNA4B
MCID: DFN266
MIFTS: 31

Deafness, Autosomal Dominant 4b (DFNA4B)

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

Aliases & Classifications for Deafness, Autosomal Dominant 4b

MalaCards integrated aliases for Deafness, Autosomal Dominant 4b:

Name: Deafness, Autosomal Dominant 4b 57 29 13 6 70
Dfna4b 57 12 72
Autosomal Dominant Nonsyndromic Deafness 4b 12 15
Deafness, Autosomal Dominant, Type 4b 39
Deafness, Autosomal Dominant, 4b 72
Autosomal Dominant Deafness 4b 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated families have been reported (last curated may 2016)
onset of hearing loss in adolescence
approximately 50db loss in adulthood


HPO:

31
deafness, autosomal dominant 4b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110574
OMIM® 57 614614
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3281297
UMLS 70 C3281297

Summaries for Deafness, Autosomal Dominant 4b

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 4B: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 4b, also known as dfna4b, is related to non-syndromic genetic deafness and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Dominant 4b is CEACAM16 (CEA Cell Adhesion Molecule 16, Tectorial Membrane Component), and among its related pathways/superpathways is Post-translational modification- synthesis of GPI-anchored proteins. Related phenotypes are hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the CEACAM16 gene on chromosome 19q13.

OMIM® : 57 Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by Wang et al., 2015) (614614) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Dominant 4b

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 4b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 non-syndromic genetic deafness 29.6 TECTA CEACAM16
2 nonsyndromic hearing loss 29.3 TECTA CEACAM16
3 deafness, autosomal recessive 113 10.0 TECTB CEACAM16
4 deafness, autosomal recessive 9.9 TECTA OTOG
5 deafness, autosomal dominant 4a 9.9
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
7 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9
8 deafness, autosomal recessive 22 9.9 TECTB TECTA
9 deafness, autosomal recessive 12 9.9 TECTA CEACAM16
10 autosomal recessive nonsyndromic deafness 9.9 TECTA OTOG
11 branchiootic syndrome 1 9.8 TECTA OTOG
12 stickler syndrome 9.8 TECTB TECTA
13 deafness, autosomal recessive 16 9.8 OTOGL OTOG
14 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 TECTB TECTA
15 usher syndrome type 2 9.7 TECTB TECTA
16 auditory system disease 9.7 TECTA OTOG CEACAM16
17 usher syndrome, type i 9.6 TECTB TECTA OTOG
18 usher syndrome, type id 9.6 TECTB TECTA OTOG
19 erythrokeratodermia variabilis et progressiva 1 9.6 TECTB TECTA OTOG
20 deafness, autosomal recessive 84b 9.6 OTOGL OTOG CEACAM16
21 deafness, autosomal recessive 18b 9.5 TECTA OTOGL OTOG
22 benign paroxysmal positional nystagmus 9.5 TECTA OTOGL OTOG
23 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.4 TECTB TECTA OTOG CEACAM16
24 rare genetic deafness 9.2 TECTA OTOGL OTOG CEACAM16
25 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 TECTA OTOGL OTOG CEACAM16
26 sensorineural hearing loss 9.2 TECTB TECTA OTOGL CEACAM16
27 deafness, autosomal recessive 53 9.0 TECTB TECTA OTOGL OTOG CEACAM16
28 deafness, autosomal recessive 21 9.0 TECTB TECTA OTOGL OTOG CEACAM16
29 deafness, autosomal dominant 12 9.0 TECTB TECTA OTOGL OTOG CEACAM16
30 autosomal dominant nonsyndromic deafness 9.0 TECTB TECTA OTOGL OTOG CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 4b:



Diseases related to Deafness, Autosomal Dominant 4b

Symptoms & Phenotypes for Deafness, Autosomal Dominant 4b

Human phenotypes related to Deafness, Autosomal Dominant 4b:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
sensorineural hearing loss, progressive bilateral postlingual

Clinical features from OMIM®:

614614 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 4b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CEACAM16 OTOG OTOGL TECTA TECTB

Drugs & Therapeutics for Deafness, Autosomal Dominant 4b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 4b

Genetic Tests for Deafness, Autosomal Dominant 4b

Genetic tests related to Deafness, Autosomal Dominant 4b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 4b 29 CEACAM16

Anatomical Context for Deafness, Autosomal Dominant 4b

Publications for Deafness, Autosomal Dominant 4b

Articles related to Deafness, Autosomal Dominant 4b:

# Title Authors PMID Year
1
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. 61 6 57
25589040 2015
2
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). 57 6
21368133 2011
3
Linkage of a gene for dominant non-syndromic deafness to chromosome 19. 6 57
7655461 1995
4
Genetic heterogeneity of deafness phenotypes linked to DFNA4. 57
16222661 2005
5
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment. 61
26648831 2015

Variations for Deafness, Autosomal Dominant 4b

ClinVar genetic disease variations for Deafness, Autosomal Dominant 4b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEACAM16 NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro) SNV Pathogenic 31238 rs387907149 GRCh37: 19:45207323-45207323
GRCh38: 19:44704053-44704053
2 CEACAM16 NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg) SNV Pathogenic 235136 rs876661405 GRCh37: 19:45207410-45207410
GRCh38: 19:44704140-44704140
3 CEACAM16 NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) SNV Uncertain significance 667086 rs370890913 GRCh37: 19:45207470-45207470
GRCh38: 19:44704200-44704200
4 CEACAM16 NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) SNV Uncertain significance 667087 rs750153629 GRCh37: 19:45207425-45207425
GRCh38: 19:44704155-44704155
5 CEACAM16 NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met) SNV Uncertain significance 1034399 GRCh37: 19:45206826-45206826
GRCh38: 19:44703556-44703556
6 CEACAM16 NM_001039213.4(CEACAM16):c.-8G>A SNV Uncertain significance 1034400 GRCh37: 19:45204719-45204719
GRCh38: 19:44701449-44701449
7 CEACAM16 NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) SNV Benign 504817 rs73568059 GRCh37: 19:45206815-45206815
GRCh38: 19:44703545-44703545

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 4b:

72
# Symbol AA change Variation ID SNP ID
1 CEACAM16 p.Thr140Pro VAR_067769 rs387907149
2 CEACAM16 p.Gly169Arg VAR_072720 rs876661405

Expression for Deafness, Autosomal Dominant 4b

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 4b.

Pathways for Deafness, Autosomal Dominant 4b

Pathways related to Deafness, Autosomal Dominant 4b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.62 TECTB TECTA

GO Terms for Deafness, Autosomal Dominant 4b

Cellular components related to Deafness, Autosomal Dominant 4b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.46 TECTB OTOGL OTOG CEACAM16
2 anchored component of membrane GO:0031225 9.26 TECTB TECTA
3 extracellular matrix GO:0031012 9.13 TECTA OTOGL OTOG
4 extracellular region GO:0005576 9.02 TECTB TECTA OTOGL OTOG CEACAM16

Biological processes related to Deafness, Autosomal Dominant 4b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-arabinose metabolic process GO:0046373 8.96 OTOGL OTOG
2 sensory perception of sound GO:0007605 8.92 TECTA OTOGL OTOG CEACAM16

Molecular functions related to Deafness, Autosomal Dominant 4b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 TECTB TECTA
2 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Deafness, Autosomal Dominant 4b

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
Content
Loading form....