DFNB57
MCID: DFN364
MIFTS: 20

Deafness, Autosomal Recessive 57 (DFNB57)

Categories: Blood diseases, 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 6
Dfnb57 57 75
Deafness, Autosomal Recessive, 57 75

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

OMIM 57 618003
MedGen 42 CN248511
MeSH 44 D006319

Summaries for Deafness, Autosomal Recessive 57

UniProtKB/Swiss-Prot : 75 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, is also known as dfnb57. An important gene associated with Deafness, Autosomal Recessive 57 is PDZD7 (PDZ Domain Containing 7). Affiliated tissues include brain, and related phenotypes are Decreased viability and Decreased viability

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)

Related Diseases for Deafness, Autosomal Recessive 57

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Symptoms & Phenotypes for Deafness, Autosomal Recessive 57

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
no vestibular dysfunction
hearing loss, sensorineural, symmetric bilateral


Clinical features from OMIM:

618003

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 57 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 8.92 PDZD7 SFXN3
2 Decreased viability GR00402-S-2 8.92 PDZD7 SFXN3

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

Anatomical Context for Deafness, Autosomal Recessive 57

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

41
Brain

Publications for Deafness, Autosomal Recessive 57

Variations for Deafness, Autosomal Recessive 57

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

75
# Symbol AA change Variation ID SNP ID
1 PDZD7 p.Gly103Arg VAR_080821
2 PDZD7 p.Gly228Arg VAR_080822
3 PDZD7 p.Met285Arg VAR_080823

ClinVar genetic disease variations for Deafness, Autosomal Recessive 57:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDZD7 NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs) duplication Pathogenic,risk factor rs587776894 GRCh37 Chromosome 10, 102789811: 102789811
2 PDZD7 NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs) duplication Pathogenic,risk factor rs587776894 GRCh38 Chromosome 10, 101030054: 101030054
3 PDZD7 NM_001195263.1(PDZD7): c.2107delA (p.Ser703Valfs) deletion Conflicting interpretations of pathogenicity rs397516633 GRCh37 Chromosome 10, 102770539: 102770539
4 PDZD7 NM_001195263.1(PDZD7): c.2107delA (p.Ser703Valfs) deletion Conflicting interpretations of pathogenicity rs397516633 GRCh38 Chromosome 10, 101010782: 101010782
5 PDZD7 NM_001195263.1(PDZD7): c.307G> C (p.Gly103Arg) single nucleotide variant Pathogenic rs148695069 GRCh37 Chromosome 10, 102783745: 102783745
6 PDZD7 NM_001195263.1(PDZD7): c.307G> C (p.Gly103Arg) single nucleotide variant Pathogenic rs148695069 GRCh38 Chromosome 10, 101023988: 101023988
7 PDZD7 NM_001195263.1(PDZD7): c.854T> G (p.Met285Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 101021811: 101021811
8 PDZD7 NM_001195263.1(PDZD7): c.854T> G (p.Met285Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102781568: 102781568
9 PDZD7 NM_001351044.1(PDZD7): c.1528C> A (p.Pro510Thr) single nucleotide variant Pathogenic rs953422571 GRCh38 Chromosome 10, 101018121: 101018121
10 PDZD7 NM_001351044.1(PDZD7): c.1528C> A (p.Pro510Thr) single nucleotide variant Pathogenic rs953422571 GRCh37 Chromosome 10, 102777878: 102777878
11 PDZD7 NM_001195263.1(PDZD7): c.1576C> T (p.Gln526Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 101015809: 101015809
12 PDZD7 NM_001195263.1(PDZD7): c.1576C> T (p.Gln526Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102775566: 102775566
13 PDZD7 NM_001195263.1(PDZD7): c.682G> A (p.Gly228Arg) single nucleotide variant Pathogenic rs753034799 GRCh38 Chromosome 10, 101022246: 101022246
14 PDZD7 NM_001195263.1(PDZD7): c.682G> A (p.Gly228Arg) single nucleotide variant Pathogenic rs753034799 GRCh37 Chromosome 10, 102782003: 102782003
15 PDZD7 NM_001195263.1(PDZD7): c.1648C> T (p.Gln550Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 101015737: 101015737
16 PDZD7 NM_001195263.1(PDZD7): c.1648C> T (p.Gln550Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102775494: 102775494
17 PDZD7 NM_001195263.1(PDZD7): c.197G> T (p.Arg66Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102789780: 102789780
18 PDZD7 NM_001195263.1(PDZD7): c.197G> T (p.Arg66Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 101030023: 101030023
19 PDZD7 NM_001195263.1(PDZD7): c.1207delC (p.His403Ilefs) deletion Pathogenic GRCh38 Chromosome 10, 101018939: 101018939
20 PDZD7 NM_001195263.1(PDZD7): c.1207delC (p.His403Ilefs) deletion Pathogenic GRCh37 Chromosome 10, 102778696: 102778696

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

Sources for Deafness, Autosomal Recessive 57

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