DFNB110
MCID: DFN367
MIFTS: 22

Deafness, Autosomal Recessive 110 (DFNB110)

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

Aliases & Classifications for Deafness, Autosomal Recessive 110

MalaCards integrated aliases for Deafness, Autosomal Recessive 110:

Name: Deafness, Autosomal Recessive 110 57 29 6
Dfnb110 57 12 72
Autosomal Recessive Nonsyndromic Deafness 110 12 15
Deafness, Autosomal Recessive, 110 72
Autosomal Recessive Deafness 110 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
one family has been reported (last curated august 2018)


HPO:

31
deafness, autosomal recessive 110:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111644
OMIM® 57 618094
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
SNOMED-CT via HPO 68 258211005 60700002

Summaries for Deafness, Autosomal Recessive 110

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 110: A form of non-syndromic, sensorineural deafness characterized by prelingual 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. DFNB110 affected individuals additionally exhibit mild, age-dependent vestibular dysfunction.

MalaCards based summary : Deafness, Autosomal Recessive 110, also known as dfnb110, is related to superior semicircular canal dehiscence and deafness, autosomal dominant 9. An important gene associated with Deafness, Autosomal Recessive 110 is COCH (Cochlin). Related phenotypes are sensorineural hearing impairment and vestibular dysfunction

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has material basis in homozygous or compound heterozygous mutation in COCH on chromosome 14q12.

More information from OMIM: 618094 PS220290

Related Diseases for Deafness, Autosomal Recessive 110

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
Deafness, Autosomal Dominant 80 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 Recessive 110 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 superior semicircular canal dehiscence 9.7 LOC100506071 COCH
2 deafness, autosomal dominant 9 9.7 LOC100506071 COCH
3 non-syndromic genetic deafness 9.7 LOC100506071 COCH
4 nonsyndromic hearing loss 9.7 LOC100506071 COCH
5 rare genetic deafness 9.6 LOC100506071 COCH
6 usher syndrome 9.6 LOC100506071 COCH
7 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 LOC100506071 COCH

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 110:



Diseases related to Deafness, Autosomal Recessive 110

Symptoms & Phenotypes for Deafness, Autosomal Recessive 110

Human phenotypes related to Deafness, Autosomal Recessive 110:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 vestibular dysfunction 31 HP:0001751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural
downsloping audiometry
vestibular dysfunction, mild, age-dependent

Clinical features from OMIM®:

618094 (Updated 20-May-2021)

Drugs & Therapeutics for Deafness, Autosomal Recessive 110

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 110

Genetic Tests for Deafness, Autosomal Recessive 110

Genetic tests related to Deafness, Autosomal Recessive 110:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 110 29 COCH

Anatomical Context for Deafness, Autosomal Recessive 110

Publications for Deafness, Autosomal Recessive 110

Articles related to Deafness, Autosomal Recessive 110:

# Title Authors PMID Year
1
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment. 6 57
29449721 2018
2
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. 61
32939038 2021
3
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. 61
32562050 2020

Variations for Deafness, Autosomal Recessive 110

ClinVar genetic disease variations for Deafness, Autosomal Recessive 110:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COCH , LOC100506071 NM_004086.3(COCH):c.292C>T (p.Arg98Ter) SNV Pathogenic 431458 rs756790858 GRCh37: 14:31348069-31348069
GRCh38: 14:30878863-30878863
2 COCH , LOC100506071 NM_004086.3(COCH):c.984_985dup (p.Phe329fs) Duplication Pathogenic 870100 GRCh37: 14:31355023-31355024
GRCh38: 14:30885817-30885818
3 COCH , LOC100506071 NM_004086.3(COCH):c.1053C>A (p.Cys351Ter) SNV Likely pathogenic 869458 GRCh37: 14:31355094-31355094
GRCh38: 14:30885888-30885888

Expression for Deafness, Autosomal Recessive 110

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 110.

Pathways for Deafness, Autosomal Recessive 110

GO Terms for Deafness, Autosomal Recessive 110

Sources for Deafness, Autosomal Recessive 110

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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