DFNB91
MCID: DFN135
MIFTS: 30

Deafness, Autosomal Recessive 91 (DFNB91)

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

Aliases & Classifications for Deafness, Autosomal Recessive 91

MalaCards integrated aliases for Deafness, Autosomal Recessive 91:

Name: Deafness, Autosomal Recessive 91 57 29 13 6 70
Dfnb91 57 12 72
Autosomal Recessive Nonsyndromic Deafness 91 12 15
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91 72
Deafness, Autosomal Recessive, Type 91 39
Deafness, Autosomal Recessive, 91 72
Autosomal Recessive Deafness 91 12

Characteristics:

OMIM®:

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

Miscellaneous:
based on 1 consanguineous turkish family (last curated july 2014)
hearing loss noted in youngest affected family member at age 20


HPO:

31
deafness, autosomal recessive 91:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110536
OMIM® 57 613453
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3150704
SNOMED-CT via HPO 68 258211005
UMLS 70 C3150704

Summaries for Deafness, Autosomal Recessive 91

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 91: A form of non-syndromic deafness characterized by progressive and age- dependent sensorineural hearing loss. Vestibular function is normal.

MalaCards based summary : Deafness, Autosomal Recessive 91, also known as dfnb91, is related to branchiootic syndrome 1 and deafness, autosomal dominant 24. An important gene associated with Deafness, Autosomal Recessive 91 is SERPINB6 (Serpin Family B Member 6). Related phenotypes are progressive hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SERPINB6 gene on chromosome 6p25.

More information from OMIM: 613453 PS220290

Related Diseases for Deafness, Autosomal Recessive 91

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 Recessive 91 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.5 GJB2 CDH23
2 deafness, autosomal dominant 24 10.2 GJB3 COCH
3 deafness, autosomal dominant 16 10.2 GJB3 COCH
4 hypotrichosis-deafness syndrome 10.2 GJB3 GJB2
5 pseudoainhum 10.1 GJB3 GJB2
6 nonsyndromic hearing loss and deafness, dfnb1 10.1 GJB3 GJB2
7 dfnb1 10.1 GJB3 GJB2
8 hereditary lymphedema ic 10.1 GJB3 GJB2
9 erythrokeratoderma 10.1 GJB3 GJB2
10 drug-induced hearing loss 10.1 GJB3 GJB2
11 deafness, autosomal dominant 40 10.1 OTOA CRYM
12 knuckle pads 10.1 GJB3 GJB2
13 labyrinthitis 10.1 GJB2 COCH
14 cogan syndrome 10.1 GJB2 COCH
15 deafness, autosomal dominant 56 10.1 GJB2 COCH
16 deafness, autosomal recessive 89 10.1 OTOA CRYM
17 bart-pumphrey syndrome 10.1 GJB3 GJB2
18 keratoderma, palmoplantar, with deafness 10.1 GJB3 GJB2
19 palmoplantar keratoderma and congenital alopecia 1 10.1 GJB3 GJB2
20 deafness, autosomal recessive 61 10.0 TPRN OTOA
21 clouston syndrome 10.0 GJB3 GJB2
22 y-linked monogenic disease 10.0 GSDME CDH23
23 deafness, autosomal recessive 79 10.0 TPRN GJB2
24 oculodentodigital dysplasia 10.0 GJB3 GJB2
25 deafness, autosomal recessive 9 10.0 GJB2 CDH23
26 deafness, autosomal recessive 28 10.0 TPRN OTOA
27 deafness, autosomal recessive 39 10.0 OTOA GJB2
28 peripheral vertigo 10.0 GJB2 COCH
29 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 TPRN GJB2
30 meniere disease 10.0 GJB2 COCH
31 deafness, autosomal recessive 83 10.0 OTOA CDH23
32 vohwinkel syndrome 10.0 GJB3 GJB2
33 deafness, autosomal dominant 2a 10.0 GJB3 GJB2 COCH
34 deafness, autosomal recessive 21 10.0 OTOA GJB2
35 deafness, autosomal recessive 6 10.0 OTOA CDH23
36 deafness, autosomal recessive 7 9.9 GJB2 CDH23
37 deafness, autosomal recessive 77 9.9 GJB2 CDH23
38 deafness, x-linked 2 9.9 GJB3 GJB2
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
40 age-related hearing loss 9.9
41 deafness, autosomal recessive 35 9.9 OTOA CDH23
42 deafness, autosomal dominant 12 9.9 OTOA GSDME GJB3
43 deafness, autosomal dominant 18 9.9 GSDME GRHL2
44 usher syndrome, type ic 9.9 GJB2 CDH23
45 deafness, autosomal recessive 2 9.9 GJB2 CDH23
46 deafness, autosomal recessive 1b 9.9 TPRN GJB3 GJB2
47 x-linked nonsyndromic deafness 9.9 TPRN GJB3 GJB2
48 deafness, autosomal recessive 23 9.9 GJB2 CDH23
49 erythrokeratodermia variabilis et progressiva 1 9.9 OTOA GJB3 GJB2
50 palmoplantar keratosis 9.9 GJB3 GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 91:



Diseases related to Deafness, Autosomal Recessive 91

Symptoms & Phenotypes for Deafness, Autosomal Recessive 91

Human phenotypes related to Deafness, Autosomal Recessive 91:

31
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
normal vestibular function
hearing loss, sensorineural, moderate to severe

Clinical features from OMIM®:

613453 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 91:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.23 CDH23 COCH CRYM GJB2 GJB3 GSDME

Drugs & Therapeutics for Deafness, Autosomal Recessive 91

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 91

Genetic Tests for Deafness, Autosomal Recessive 91

Genetic tests related to Deafness, Autosomal Recessive 91:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 91 29 SERPINB6

Anatomical Context for Deafness, Autosomal Recessive 91

Publications for Deafness, Autosomal Recessive 91

Articles related to Deafness, Autosomal Recessive 91:

# Title Authors PMID Year
1
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. 57 6 61
20451170 2010
2
Copy number variants are a common cause of non-syndromic hearing loss. 57
24963352 2014
3
Increased susceptibility to acoustic trauma in a mouse model of non-syndromic sensorineural deafness, DFNB91. 61
33073422 2021
4
Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear. 61
23669344 2013

Variations for Deafness, Autosomal Recessive 91

ClinVar genetic disease variations for Deafness, Autosomal Recessive 91:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINB6 NM_004568.5(SERPINB6):c.733G>T (p.Glu245Ter) SNV Pathogenic 13601 rs267607037 GRCh37: 6:2948930-2948930
GRCh38: 6:2948696-2948696
2 SERPINB6 NM_004568.6(SERPINB6):c.499_502del (p.Val167fs) Deletion Pathogenic 1032913 GRCh37: 6:2953349-2953352
GRCh38: 6:2953115-2953118
3 SERPINB6 NM_004568.5(SERPINB6):c.121G>A (p.Val41Ile) SNV Uncertain significance 165196 rs140220538 GRCh37: 6:2959446-2959446
GRCh38: 6:2959212-2959212
4 SERPINB6 NM_004568.5(SERPINB6):c.251C>T (p.Thr84Met) SNV Uncertain significance 504995 rs538616923 GRCh37: 6:2955819-2955819
GRCh38: 6:2955585-2955585

Expression for Deafness, Autosomal Recessive 91

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 91.

Pathways for Deafness, Autosomal Recessive 91

GO Terms for Deafness, Autosomal Recessive 91

Cellular components related to Deafness, Autosomal Recessive 91 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 9.16 TPRN CDH23
2 gap junction GO:0005921 8.96 GJB3 GJB2
3 connexin complex GO:0005922 8.62 GJB3 GJB2

Biological processes related to Deafness, Autosomal Recessive 91 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 TPRN SERPINB6 OTOA GSDME GJB2 CRYM
2 cell communication GO:0007154 8.96 GJB3 GJB2

Molecular functions related to Deafness, Autosomal Recessive 91 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB3 GJB2

Sources for Deafness, Autosomal Recessive 91

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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