DFNB22
MCID: DFN132
MIFTS: 34

Deafness, Autosomal Recessive 22 (DFNB22)

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

Aliases & Classifications for Deafness, Autosomal Recessive 22

MalaCards integrated aliases for Deafness, Autosomal Recessive 22:

Name: Deafness, Autosomal Recessive 22 57 29 13 6 70
Dfnb22 57 12 72
Autosomal Recessive Nonsyndromic Deafness 22 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 22 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 22 72
Deafness, Autosomal Recessive, Type 22 39
Deafness, Autosomal Recessive, 22 72
Autosomal Recessive Deafness 22 12

Characteristics:

OMIM®:

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

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 22:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110480
OMIM® 57 607039
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1846896
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1846896

Summaries for Deafness, Autosomal Recessive 22

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 22: 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 Recessive 22, also known as dfnb22, is related to branchiootic syndrome 1 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 22 is OTOA (Otoancorin), and among its related pathways/superpathways is Post-translational modification- synthesis of GPI-anchored proteins. Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the OTOA gene on chromosome 16p12.

More information from OMIM: 607039 PS220290

Related Diseases for Deafness, Autosomal Recessive 22

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 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.0 TECTA PTPRQ PJVK
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.9 TRIOBP TMIE TECTA STRC PTPRQ PJVK
3 deafness, autosomal recessive 8 10.2 PJVK MYO15A
4 autosomal recessive nonsyndromic deafness 32 10.2 PJVK OTOA
5 autosomal recessive nonsyndromic deafness 3 10.2 PJVK MYO15A
6 deafness, autosomal recessive 18b 10.2 TECTA STRC
7 deafness, autosomal dominant 3b 10.2 OTOA LHFPL5
8 deafness, autosomal recessive 49 10.2 PJVK MYO15A
9 deafness, autosomal recessive 77 10.1 PJVK LHFPL5
10 deafness, autosomal recessive 15 10.1 PJVK MYO15A
11 deafness, autosomal recessive 1b 10.1 STRC MYO15A
12 deafness, autosomal recessive 1a 10.1 STRC PJVK OTOA
13 deafness, autosomal dominant 6 10.1 TECTA MYO15A
14 vestibular disease 10.1 STRC MYO15A
15 deafness, autosomal recessive 2 10.1 TECTA PJVK MYO15A
16 deafness, autosomal recessive 27 10.1 TMIE PJVK
17 deafness, autosomal recessive 85 10.1 PJVK OTOA LHFPL5
18 y-linked deafness 10.1 TMIE STRC
19 y-linked monogenic disease 10.0 TMIE STRC
20 usher syndrome, type if 10.0 STRC MYO15A
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
22 dyslexia 10.0
23 16p12.2 microdeletion 10.0
24 usher syndrome, type iic 10.0 STRC MYO15A
25 deafness, autosomal dominant 27 10.0 TMIE MYO15A
26 deafness, autosomal recessive 25 10.0 TRIOBP PJVK MYO15A
27 deafness, autosomal recessive 42 10.0 TECTA PTPRQ PJVK
28 deafness, autosomal recessive 23 9.9 PTPRQ MYO15A
29 non-syndromic genetic deafness 9.9 TRIOBP TECTA MYO15A
30 deafness, autosomal dominant 4b 9.9 TECTB TECTA
31 deafness, autosomal recessive 83 9.9 PJVK OTOA MYO15A LHFPL5
32 deafness, autosomal recessive 67 9.9 TMIE PJVK LHFPL5
33 deafness, autosomal recessive 93 9.8 TRIOBP TMIE PJVK
34 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.8 TECTB TECTA
35 deafness, autosomal recessive 37 9.8 TRIOBP PTPRQ MYO15A
36 deafness, autosomal dominant 22 9.8 TRIOBP PTPRQ MYO15A
37 deafness, x-linked 2 9.8 TMIE STRC
38 deafness, autosomal dominant 36 9.8 TMIE MYO15A LHFPL5
39 deafness, autosomal recessive 24 9.8 TRIOBP TECTA PJVK MYO15A
40 deafness, autosomal recessive 66 9.8 STRC PTPRQ OTOA LHFPL5
41 deafness, autosomal recessive 39 9.8 TRIOBP STRC PTPRQ OTOA
42 inflammatory bowel disease 1 9.7 METTL9 IGSF6
43 deafness, autosomal recessive 61 9.7 TRIOBP TECTA PTPRQ OTOA
44 deafness, autosomal recessive 35 9.7 TRIOBP TMIE PJVK OTOA
45 deafness, autosomal recessive 7 9.7 TMIE PJVK MYO15A LHFPL5
46 deafness, autosomal dominant 1, with or without thrombocytopenia 9.7 TRIOBP TECTA PTPRQ MYO15A
47 deafness, autosomal dominant 12 9.6 TECTB TECTA STRC OTOA
48 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 TECTA STRC PTPRQ LHFPL5
49 deafness, autosomal recessive 53 9.6 TECTB TECTA PJVK LHFPL5
50 deafness, autosomal recessive 63 9.5 TMIE PJVK OTOA MYO15A LHFPL5

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 22:



Diseases related to Deafness, Autosomal Recessive 22

Symptoms & Phenotypes for Deafness, Autosomal Recessive 22

Human phenotypes related to Deafness, Autosomal Recessive 22:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, sensorineural, severe to profound affecting all frequencies

Clinical features from OMIM®:

607039 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 22:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.65 LHFPL5 MYO15A OTOA PJVK PTPRQ STRC
2 nervous system MP:0003631 9.32 LHFPL5 MYO15A OTOA PJVK PTPRQ STRC

Drugs & Therapeutics for Deafness, Autosomal Recessive 22

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 22

Genetic Tests for Deafness, Autosomal Recessive 22

Genetic tests related to Deafness, Autosomal Recessive 22:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 22 29 OTOA

Anatomical Context for Deafness, Autosomal Recessive 22

Publications for Deafness, Autosomal Recessive 22

Articles related to Deafness, Autosomal Recessive 22:

# Title Authors PMID Year
1
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. 61 57 6
11972037 2002
2
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. 6 57
23173898 2013
3
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 6 57
19888295 2010
4
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 6
30828794 2019
5
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. 61
31527525 2019
6
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22. 61
31204719 2019
7
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness. 61
30740825 2019
8
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation. 61
23129639 2012

Variations for Deafness, Autosomal Recessive 22

ClinVar genetic disease variations for Deafness, Autosomal Recessive 22:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTOA NM_144672.4(OTOA):c.1320+2T>C SNV Pathogenic 3560 rs1567381218 GRCh37: 16:21721426-21721426
GRCh38: 16:21710105-21710105
2 OTOA OTOA, 500-KB DEL Deletion Pathogenic 3561 GRCh37:
GRCh38:
3 OTOA NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser) SNV Pathogenic 100655 rs587777133 GRCh37: 16:21734298-21734298
GRCh38: 16:21722977-21722977
4 OTOA NM_144672.4(OTOA):c.1025A>T (p.Asp342Val) SNV Pathogenic 402269 rs1060499804 GRCh37: 16:21716534-21716534
GRCh38: 16:21705213-21705213
5 OTOA NM_144672.4(OTOA):c.1765del (p.Gln589fs) Deletion Pathogenic 684616 rs775776282 GRCh37: 16:21730783-21730783
GRCh38: 16:21719462-21719462
6 OTOA NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) SNV Pathogenic 100654 rs200656442 GRCh37: 16:21726337-21726337
GRCh38: 16:21715016-21715016
7 OTOA NM_144672.4(OTOA):c.2737del (p.Ala913fs) Deletion Pathogenic 998339 GRCh37: 16:21756318-21756318
GRCh38: 16:21744997-21744997
8 OTOA NM_144672.4(OTOA):c.1880+1G>A SNV Pathogenic 164826 rs148690740 GRCh37: 16:21734300-21734300
GRCh38: 16:21722979-21722979
9 OTOA NM_144672.3:c.1882delG Deletion Pathogenic 1029161 GRCh37: 16:21737843-21737843
GRCh38: 16:21726522-21726522
10 OTOA NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter) SNV Likely pathogenic 1029162 GRCh37: 16:21737875-21737875
GRCh38: 16:21726554-21726554
11 OTOA NM_144672.4(OTOA):c.828del (p.Ser277fs) Deletion Likely pathogenic 402235 rs751447996 GRCh37: 16:21709183-21709183
GRCh38: 16:21697862-21697862
12 OTOA NM_144672.4(OTOA):c.2295del (p.Thr766fs) Deletion Likely pathogenic 623202 rs774366025 GRCh37: 16:21742244-21742244
GRCh38: 16:21730923-21730923
13 OTOA NM_144672.4(OTOA):c.2301+1G>T SNV Likely pathogenic 626214 rs1567396832 GRCh37: 16:21742252-21742252
GRCh38: 16:21730931-21730931
14 OTOA NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) SNV Uncertain significance 634633 rs1567391195 GRCh37: 16:21734250-21734250
GRCh38: 16:21722929-21722929
15 OTOA NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) SNV Uncertain significance 869479 GRCh37: 16:21739752-21739752
GRCh38: 16:21728431-21728431
16 OTOA NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) SNV Uncertain significance 638049 rs1377749598 GRCh37: 16:21768437-21768437
GRCh38: 16:21757116-21757116
17 OTOA NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) SNV Uncertain significance 638328 rs764347046 GRCh37: 16:21734239-21734239
GRCh38: 16:21722918-21722918
18 OTOA NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) SNV Uncertain significance 218840 rs464696 GRCh37: 16:21747633-21747633
GRCh38: 16:21736312-21736312
19 OTOA NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) SNV Uncertain significance 218841 rs200988634 GRCh37: 16:21747639-21747639
GRCh38: 16:21736318-21736318
20 OTOA NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) SNV Uncertain significance 178499 rs138141474 GRCh37: 16:21728262-21728262
GRCh38: 16:21716941-21716941
21 OTOA NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) SNV Uncertain significance 229069 rs372826296 GRCh37: 16:21690240-21690240
GRCh38: 16:21678919-21678919
22 OTOA NM_144672.4(OTOA):c.268-677G>A SNV Uncertain significance 1029163 GRCh37: 16:21695874-21695874
GRCh38: 16:21684553-21684553
23 OTOA NM_144672.4(OTOA):c.2229C>T (p.Ala743=) SNV Benign 164827 rs461179 GRCh37: 16:21742179-21742179
GRCh38: 16:21730858-21730858
24 OTOA NM_144672.4(OTOA):c.2238G>A (p.Thr746=) SNV Benign 47953 rs72640475 GRCh37: 16:21742188-21742188
GRCh38: 16:21730867-21730867

Expression for Deafness, Autosomal Recessive 22

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 22.

Pathways for Deafness, Autosomal Recessive 22

Pathways related to Deafness, Autosomal Recessive 22 according to GeneCards Suite gene sharing:

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

GO Terms for Deafness, Autosomal Recessive 22

Cellular components related to Deafness, Autosomal Recessive 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 9.33 TECTB TECTA OTOA
2 stereocilium GO:0032420 9.32 STRC MYO15A
3 stereocilium tip GO:0032426 9.26 STRC LHFPL5
4 stereocilium base GO:0120044 8.96 TRIOBP PJVK
5 stereocilium bundle GO:0032421 8.8 PTPRQ MYO15A LHFPL5

Biological processes related to Deafness, Autosomal Recessive 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-matrix adhesion GO:0007160 9.5 TECTA STRC OTOA
2 inner ear morphogenesis GO:0042472 9.43 TMIE PTPRQ MYO15A
3 auditory receptor cell stereocilium organization GO:0060088 9.33 TRIOBP STRC LHFPL5
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 STRC PTPRQ PJVK LHFPL5
5 sensory perception of sound GO:0007605 9.23 TRIOBP TMIE TECTA STRC PJVK OTOA

Sources for Deafness, Autosomal Recessive 22

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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