DFNB57
MCID: DFN364
MIFTS: 33

Deafness, Autosomal Recessive 57 (DFNB57)

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

Aliases & Classifications for Deafness, Autosomal Recessive 57

MalaCards integrated aliases for Deafness, Autosomal Recessive 57:

Name: Deafness, Autosomal Recessive 57 57 29 6
Dfnb57 57 12 72
Autosomal Recessive Nonsyndromic Deafness 57 12 15
Deafness, Autosomal Recessive, 57 72
Autosomal Recessive Deafness 57 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early childhood
onset is prelingual in some patients
hearing loss ranges from moderate to severe
hearing loss may be progressive in some patients


HPO:

31
deafness, autosomal recessive 57:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111635
OMIM® 57 618003
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
SNOMED-CT via HPO 68 258211005 60700002

Summaries for Deafness, Autosomal Recessive 57

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 57: A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. 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. DFNB57 severity ranges from moderate to severe.

MalaCards based summary : Deafness, Autosomal Recessive 57, also known as dfnb57, is related to usher syndrome, type iiib and usher syndrome, type 2b. An important gene associated with Deafness, Autosomal Recessive 57 is PDZD7 (PDZ Domain Containing 7). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has material basis in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31.

OMIM® : 57 Autosomal recessive deafness-57 is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. The hearing loss may be mildly progressive (Guan et al., 2018). (618003) (Updated 20-May-2021)

Related Diseases for Deafness, Autosomal Recessive 57

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iiib 9.9 WHRN ADGRV1
2 usher syndrome, type 2b 9.9 PDZD7 ADGRV1
3 deafness, autosomal recessive 23 9.9 WHRN ADGRV1
4 retinitis pigmentosa-deafness syndrome 9.9 WHRN ADGRV1
5 late-onset retinal degeneration 9.8 WHRN ADGRV1
6 deafness, autosomal recessive 42 9.8 PDZD7 CCDC27
7 deafness, autosomal recessive 48 9.8 WHRN PDZD7 CIB2
8 deafness, autosomal dominant 11 9.8 WHRN PDZD7 ADGRV1
9 deafness, autosomal recessive 2 9.7 WHRN PDZD7 ADGRV1
10 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 WHRN TECTB
11 usher syndrome, type ih 9.7 WHRN CIB2 ADGRV1
12 usher syndrome, type iia 9.7 WHRN PDZD7 ADGRV1
13 deafness, autosomal recessive 12 9.7 WHRN CIB2 ADGRV1
14 auditory system disease 9.7 WHRN CIB2 ADGRV1
15 rare genetic deafness 9.7 WHRN CIB2 ADGRV1
16 stickler syndrome 9.7 WHRN TECTB
17 eye degenerative disease 9.6 WHRN ADGRV1
18 deafness, autosomal recessive 31 9.5 WHRN PDZD7 CIB2 ADGRV1
19 usher syndrome, type ij 9.5 WHRN PDZD7 CIB2 ADGRV1
20 usher syndrome, type iid 9.5 WHRN PDZD7 CIB2 ADGRV1
21 usher syndrome, type if 9.5 WHRN PDZD7 CIB2 ADGRV1
22 digenic disease 9.5 WHRN PDZD7 CIB2 ADGRV1
23 usher syndrome, type iiia 9.5 WHRN PDZD7 CIB2 ADGRV1
24 fundus dystrophy 9.4 WHRN PDZD7 CIB2 ADGRV1
25 retinitis pigmentosa 9.4 WHRN PDZD7 CIB2 ADGRV1
26 usher syndrome 9.2 WHRN TECTB PDZD7 CIB2 ADGRV1
27 usher syndrome, type i 9.2 WHRN TECTB PDZD7 CIB2 ADGRV1
28 usher syndrome, type id 9.2 WHRN TECTB PDZD7 CIB2 ADGRV1
29 autosomal dominant nonsyndromic deafness 9.2 WHRN TECTB PDZD7 CIB2 ADGRV1
30 autosomal recessive nonsyndromic deafness 9.2 WHRN TECTB PDZD7 CIB2 ADGRV1
31 sensorineural hearing loss 9.2 WHRN TECTB PDZD7 CIB2 ADGRV1
32 usher syndrome, type iic 9.1 WHRN PDZD7 CIB2 CCDC27 ADGRV1
33 usher syndrome type 2 8.8 WHRN TECTB PDZD7 CIB2 CCDC27 ADGRV1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 57:



Diseases related to Deafness, Autosomal Recessive 57

Symptoms & Phenotypes for Deafness, Autosomal Recessive 57

Human phenotypes related to Deafness, Autosomal Recessive 57:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
no vestibular dysfunction
hearing loss, sensorineural, symmetric bilateral

Clinical features from OMIM®:

618003 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 57:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 ADGRV1 CIB2 PDZD7 TECTB WHRN
2 nervous system MP:0003631 9.02 ADGRV1 CIB2 PDZD7 TECTB WHRN

Drugs & Therapeutics for Deafness, Autosomal Recessive 57

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 57

Genetic Tests for Deafness, Autosomal Recessive 57

Genetic tests related to Deafness, Autosomal Recessive 57:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 57 29 PDZD7

Anatomical Context for Deafness, Autosomal Recessive 57

MalaCards organs/tissues related to Deafness, Autosomal Recessive 57:

40
Eye

Publications for Deafness, Autosomal Recessive 57

Articles related to Deafness, Autosomal Recessive 57:

# Title Authors PMID Year
1
PDZD7 and hearing loss: More than just a modifier. 61 6 57
26416264 2015
2
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 57 6
29048736 2018
3
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. 57 6
26849169 2016
4
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 6
20440071 2010
5
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. 57
19028668 2009

Variations for Deafness, Autosomal Recessive 57

ClinVar genetic disease variations for Deafness, Autosomal Recessive 57:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDZD7 NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) SNV Pathogenic 545402 rs1554834186 GRCh37: 10:102775566-102775566
GRCh38: 10:101015809-101015809
2 PDZD7 NM_001195263.2(PDZD7):c.1207del (p.His403fs) Deletion Pathogenic 545407 rs1554835103 GRCh37: 10:102778696-102778696
GRCh38: 10:101018939-101018939
3 PDZD7 NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) Duplication Pathogenic 30983 rs587776894 GRCh37: 10:102789810-102789811
GRCh38: 10:101030053-101030054
4 PDZD7 NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) SNV Pathogenic 545404 rs1554834161 GRCh37: 10:102775494-102775494
GRCh38: 10:101015737-101015737
5 PDZD7 NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) SNV Pathogenic 992657 GRCh37: 10:102783801-102783801
GRCh38: 10:101024044-101024044
6 PDZD7 NM_001195263.2(PDZD7):c.1325-22del Deletion Pathogenic 1027813 GRCh37: 10:102778075-102778075
GRCh38: 10:101018318-101018318
7 PDZD7 NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs) Deletion Pathogenic 1027814 GRCh37: 10:102770318-102770327
GRCh38: 10:101010561-101010570
8 PDZD7 NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs) Deletion Pathogenic 1027815 GRCh37: 10:102770315-102770316
GRCh38: 10:101010558-101010559
9 PDZD7 NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) Deletion Pathogenic/Likely pathogenic 44121 rs397516633 GRCh37: 10:102770539-102770539
GRCh38: 10:101010782-101010782
10 PDZD7 NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) Deletion Pathogenic/Likely pathogenic 915843 GRCh37: 10:102770557-102770557
GRCh38: 10:101010800-101010800
11 PDZD7 NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) SNV Likely pathogenic 545403 rs753034799 GRCh37: 10:102782003-102782003
GRCh38: 10:101022246-101022246
12 PDZD7 NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) SNV Likely pathogenic 545399 rs148695069 GRCh37: 10:102783745-102783745
GRCh38: 10:101023988-101023988
13 PDZD7 NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) SNV Likely pathogenic 545400 rs1554835827 GRCh37: 10:102781568-102781568
GRCh38: 10:101021811-101021811
14 PDZD7 NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) SNV Likely pathogenic 545401 rs953422571 GRCh37: 10:102777878-102777878
GRCh38: 10:101018121-101018121
15 PDZD7 NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) Deletion Conflicting interpretations of pathogenicity 955403 GRCh37: 10:102768476-102768476
GRCh38: 10:101008719-101008719
16 PDZD7 NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) SNV Uncertain significance 198461 rs368026275 GRCh37: 10:102780425-102780425
GRCh38: 10:101020668-101020668
17 PDZD7 NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) SNV Uncertain significance 869469 GRCh37: 10:102783765-102783765
GRCh38: 10:101024008-101024008
18 PDZD7 NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) SNV Uncertain significance 869470 GRCh37: 10:102782005-102782005
GRCh38: 10:101022248-101022248
19 PDZD7 NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) SNV Uncertain significance 930811 GRCh37: 10:102778890-102778890
GRCh38: 10:101019133-101019133
20 PDZD7 NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) SNV Uncertain significance 545406 rs1426679303 GRCh37: 10:102789780-102789780
GRCh38: 10:101030023-101030023
21 PDZD7 NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) SNV Uncertain significance 667311 rs1590053918 GRCh37: 10:102776182-102776182
GRCh38: 10:101016425-101016425

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 57:

72
# Symbol AA change Variation ID SNP ID
1 PDZD7 p.Gly103Arg VAR_080821 rs148695069
2 PDZD7 p.Gly228Arg VAR_080822 rs753034799
3 PDZD7 p.Met285Arg VAR_080823 rs155483582

Expression for Deafness, Autosomal Recessive 57

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 57.

Pathways for Deafness, Autosomal Recessive 57

GO Terms for Deafness, Autosomal Recessive 57

Cellular components related to Deafness, Autosomal Recessive 57 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.76 WHRN PDZD7 CIB2 ADGRV1
2 cilium GO:0005929 9.65 WHRN PDZD7 CIB2
3 photoreceptor inner segment GO:0001917 9.62 WHRN PDZD7 CIB2 ADGRV1
4 stereocilium GO:0032420 9.46 WHRN PDZD7 CIB2 ADGRV1
5 photoreceptor connecting cilium GO:0032391 9.43 WHRN PDZD7
6 stereocilia ankle link complex GO:0002142 9.43 WHRN PDZD7 ADGRV1
7 stereocilium tip GO:0032426 9.4 WHRN PDZD7
8 periciliary membrane compartment GO:1990075 9.37 WHRN ADGRV1
9 USH2 complex GO:1990696 9.13 WHRN PDZD7 ADGRV1
10 stereocilia ankle link GO:0002141 8.8 WHRN PDZD7 ADGRV1

Biological processes related to Deafness, Autosomal Recessive 57 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.4 CIB2 ADGRV1
2 inner ear receptor cell stereocilium organization GO:0060122 9.37 WHRN ADGRV1
3 sensory perception of sound GO:0007605 9.33 WHRN PDZD7 ADGRV1
4 auditory receptor cell stereocilium organization GO:0060088 9.32 WHRN PDZD7
5 sensory perception of light stimulus GO:0050953 9.26 WHRN ADGRV1
6 establishment of protein localization GO:0045184 9.13 WHRN PDZD7 ADGRV1
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.8 WHRN PDZD7 ADGRV1

Sources for Deafness, Autosomal Recessive 57

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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