MCID: DFN111
MIFTS: 28

Deafness, Autosomal Recessive 35

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

Aliases & Classifications for Deafness, Autosomal Recessive 35

MalaCards integrated aliases for Deafness, Autosomal Recessive 35:

Name: Deafness, Autosomal Recessive 35 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 35 12 14
Dfnb35 12 71
Deafness, Autosomal Recessive, 35 71
Autosomal Recessive Deafness 35 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 35:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 608565
Disease Ontology 12 DOID:0110493
ICD10 33 H90.3
MedGen 40 C1837857
MeSH 42 D003638
SNOMED-CT via HPO 65 258211005 60700002

Summaries for Deafness, Autosomal Recessive 35

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has material basis in mutation in the ESRRB gene on chromosome 14q24.

MalaCards based summary : Deafness, Autosomal Recessive 35, also known as autosomal recessive nonsyndromic deafness 35, is related to dfnb35 nonsyndromic hearing loss and deafness and deafness, autosomal recessive, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 35 is ESRRB (Estrogen Related Receptor Beta). Related phenotype is hearing/vestibular/ear.

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 35: A form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss.

Description from OMIM: 608565

Related Diseases for Deafness, Autosomal Recessive 35

Diseases in the Familial Deafness family:

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

Diseases related to Deafness, Autosomal Recessive 35 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfnb35 nonsyndromic hearing loss and deafness 11.8
2 deafness, autosomal recessive 9.9 ESRRB GRXCR1
3 autosomal recessive nonsyndromic deafness 9.9 COCH GRXCR1
4 discrete papular lichen myxedematosus 9.7 ESRRB GRXCR1
5 preauricular tag, isolated, autosomal dominant, 1 8.5 APPL1 COCH SLC22A17 STXBP6
6 cardiomyopathy, hypertrophic, 14 8.4 APPL1 COCH SLC22A17 STXBP6
7 optic disc anomalies with retinal and/or macular dystrophy 8.4 APPL1 COCH SLC22A17 STXBP6
8 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 7.6 APPL1 COCH ESRRB GRXCR1 SLC22A17 STXBP6

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 35:



Diseases related to Deafness, Autosomal Recessive 35

Symptoms & Phenotypes for Deafness, Autosomal Recessive 35

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, bilateral sensorineural, severe-to-profound
no abnormalities of vestibular function
transient otoacoustic emission spectra absent indicating a deficiency of outer hair cell function


Clinical features from OMIM:

608565

Human phenotypes related to Deafness, Autosomal Recessive 35:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 35:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 COCH ESRRB GRXCR1

Drugs & Therapeutics for Deafness, Autosomal Recessive 35

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 35

Genetic Tests for Deafness, Autosomal Recessive 35

Genetic tests related to Deafness, Autosomal Recessive 35:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 35 29

Anatomical Context for Deafness, Autosomal Recessive 35

Publications for Deafness, Autosomal Recessive 35

Variations for Deafness, Autosomal Recessive 35

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 35:

71
id Symbol AA change Variation ID SNP ID
1 ESRRB p.Ala110Val VAR_043503 rs121909110
2 ESRRB p.Leu320Pro VAR_043504
3 ESRRB p.Val342Leu VAR_043505 rs121909111
4 ESRRB p.Leu347Pro VAR_043506

ClinVar genetic disease variations for Deafness, Autosomal Recessive 35:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ESRRB ESRRB, 7-BP DUP, NT1018 duplication Pathogenic
2 ESRRB NM_004452.3(ESRRB): c.329C> T (p.Ala110Val) single nucleotide variant Pathogenic rs121909110 GRCh37 Chromosome 14, 76906025: 76906025
3 ESRRB NM_004452.3(ESRRB): c.1024G> T (p.Val342Leu) single nucleotide variant Pathogenic rs121909111 GRCh37 Chromosome 14, 76958026: 76958026
4 ESRRB NM_004452.3(ESRRB): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs1060499794 GRCh38 Chromosome 14, 76482046: 76482046
5 ESRRB NM_004452.3(ESRRB): c.787G> A (p.Gly263Ser) single nucleotide variant Pathogenic rs375916159 GRCh37 Chromosome 14, 76949102: 76949102

Expression for Deafness, Autosomal Recessive 35

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 35.

Pathways for Deafness, Autosomal Recessive 35

GO Terms for Deafness, Autosomal Recessive 35

Biological processes related to Deafness, Autosomal Recessive 35 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 COCH GRXCR1

Sources for Deafness, Autosomal Recessive 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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