DFNB21
MCID: DFN130
MIFTS: 33

Deafness, Autosomal Recessive 21 (DFNB21)

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

Aliases & Classifications for Deafness, Autosomal Recessive 21

MalaCards integrated aliases for Deafness, Autosomal Recessive 21:

Name: Deafness, Autosomal Recessive 21 57 29 13 6 73
Dfnb21 57 12 75
Autosomal Recessive Nonsyndromic Deafness 21 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 75
Deafness, Autosomal Recessive, Type 21 40
Deafness, Autosomal Recessive, 21 75
Autosomal Recessive Deafness 21 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 603629
Disease Ontology 12 DOID:0110479
ICD10 33 H90.3
MedGen 42 C1863655
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C1863655

Summaries for Deafness, Autosomal Recessive 21

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 21: 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 21, also known as dfnb21, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive 3. An important gene associated with Deafness, Autosomal Recessive 21 is TECTA (Tectorin Alpha), and among its related pathways/superpathways is Post-translational modification- synthesis of GPI-anchored proteins. The drugs Epirubicin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include brain, and 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 TECTA gene on chromosome 11q23.3.

Description from OMIM: 603629

Related Diseases for Deafness, Autosomal Recessive 21

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

Diseases related to Deafness, Autosomal Recessive 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 deafness, autosomal recessive 3 10.1
3 deafness, autosomal recessive 18b 10.1 OTOG TECTA
4 deafness, autosomal recessive 2 10.1 GJB2 TECTA
5 deafness, autosomal dominant 12 10.0 OTOG TECTA
6 deafness, autosomal recessive 9 10.0 GJB2 TECTA
7 deafness, autosomal recessive 26 10.0 GJB2 TECTA
8 autosomal recessive nonsyndromic deafness 10.0 GJB2 OTOG
9 autosomal recessive nonsyndromic deafness 3 10.0 GJB2 TECTA
10 deafness, autosomal dominant 13 9.9 GJB2 OTOG
11 auditory system disease 9.9 GJB2 TECTA
12 branchiootic syndrome 1 9.9 GJB2 OTOG TECTA
13 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 GJB2 OTOG TECTA
14 non-syndromic genetic deafness 9.9 GJB2 OTOG TECTA
15 sensorineural hearing loss 9.8 GJB2 TECTA
16 nonsyndromic deafness 9.7 GJB2 OTOG TECTA TECTB
17 autosomal dominant nonsyndromic deafness 9.4 GJB2 OTOG SYTL1 TECTA TECTB

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 21:



Diseases related to Deafness, Autosomal Recessive 21

Symptoms & Phenotypes for Deafness, Autosomal Recessive 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, severe-to-profound (70-110 db on all frequencies, most pronounced in mid-frequencies)


Clinical features from OMIM:

603629

Human phenotypes related to Deafness, Autosomal Recessive 21:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 21:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 GJB2 OTOG TECTA TECTB
2 nervous system MP:0003631 9.1 GJB2 OTOG SYTL1 TECTA TECTB VWF

Drugs & Therapeutics for Deafness, Autosomal Recessive 21

Drugs for Deafness, Autosomal Recessive 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epirubicin Approved Not Applicable 56420-45-2 41867
2
Paclitaxel Approved, Vet_approved Not Applicable 33069-62-4 36314
3
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
4 Antineoplastic Agents, Phytogenic Not Applicable
5 Antimitotic Agents Not Applicable
6 Albumin-Bound Paclitaxel Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Paclitaxol Every 2 Week Versus Paclitaxol Every 1 Week in the Adjuvant Treatment of Breast Cancer Not yet recruiting NCT01848197 Not Applicable paclitaxel

Search NIH Clinical Center for Deafness, Autosomal Recessive 21

Genetic Tests for Deafness, Autosomal Recessive 21

Genetic tests related to Deafness, Autosomal Recessive 21:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 21 29 TECTA

Anatomical Context for Deafness, Autosomal Recessive 21

MalaCards organs/tissues related to Deafness, Autosomal Recessive 21:

41
Brain

Publications for Deafness, Autosomal Recessive 21

Articles related to Deafness, Autosomal Recessive 21:

# Title Authors Year
1
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. ( 27398341 )
2016
2
DFNB21. ( 12408078 )
2002

Variations for Deafness, Autosomal Recessive 21

ClinVar genetic disease variations for Deafness, Autosomal Recessive 21:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 TECTA NM_005422.2(TECTA): c.5597C> T (p.Thr1866Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140236996 GRCh38 Chromosome 11, 121168064: 121168064
2 TECTA NM_005422.2(TECTA): c.5597C> T (p.Thr1866Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140236996 GRCh37 Chromosome 11, 121038773: 121038773
3 TECTA NM_005422.2(TECTA): c.4857C> A (p.Cys1619Ter) single nucleotide variant Pathogenic rs764153521 GRCh38 Chromosome 11, 121160302: 121160302
4 TECTA NM_005422.2(TECTA): c.4857C> A (p.Cys1619Ter) single nucleotide variant Pathogenic rs764153521 GRCh37 Chromosome 11, 121031011: 121031011
5 TECTA NM_005422.2(TECTA): c.3854G> C (p.Cys1285Ser) single nucleotide variant Uncertain significance rs1060499597 GRCh37 Chromosome 11, 121016574: 121016574
6 TECTA NM_005422.2(TECTA): c.3854G> C (p.Cys1285Ser) single nucleotide variant Uncertain significance rs1060499597 GRCh38 Chromosome 11, 121145865: 121145865
7 TECTA NM_005422.2(TECTA): c.1893C> A (p.Cys631Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 121127870: 121127870
8 TECTA NM_005422.2(TECTA): c.1893C> A (p.Cys631Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 120998579: 120998579
9 TECTA NM_005422.2(TECTA): c.5826C> A (p.Tyr1942Ter) single nucleotide variant Pathogenic rs955468054 GRCh38 Chromosome 11, 121168752: 121168752
10 TECTA NM_005422.2(TECTA): c.5826C> A (p.Tyr1942Ter) single nucleotide variant Pathogenic rs955468054 GRCh37 Chromosome 11, 121039461: 121039461
11 TECTA NM_005422.2(TECTA): c.4085G> A (p.Trp1362Ter) single nucleotide variant Pathogenic rs199638531 GRCh38 Chromosome 11, 121146096: 121146096
12 TECTA NM_005422.2(TECTA): c.4085G> A (p.Trp1362Ter) single nucleotide variant Pathogenic rs199638531 GRCh37 Chromosome 11, 121016805: 121016805
13 TECTA NM_005422.2(TECTA): c.840_841insT (p.Val281Cysfs) insertion Pathogenic GRCh37 Chromosome 11, 120989064: 120989065
14 TECTA NM_005422.2(TECTA): c.840_841insT (p.Val281Cysfs) insertion Pathogenic GRCh38 Chromosome 11, 121118355: 121118356
15 TECTA NM_005422.2(TECTA): c.2736C> A (p.Cys912Ter) single nucleotide variant Pathogenic rs368050948 GRCh37 Chromosome 11, 121000715: 121000715
16 TECTA NM_005422.2(TECTA): c.2736C> A (p.Cys912Ter) single nucleotide variant Pathogenic rs368050948 GRCh38 Chromosome 11, 121130006: 121130006
17 TECTA NM_005422.2(TECTA): c.6162+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 121058708: 121058708
18 TECTA NM_005422.2(TECTA): c.6162+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 121187999: 121187999

Expression for Deafness, Autosomal Recessive 21

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 21.

Pathways for Deafness, Autosomal Recessive 21

Pathways related to Deafness, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

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

GO Terms for Deafness, Autosomal Recessive 21

Cellular components related to Deafness, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 8.96 TECTA TECTB
2 extracellular matrix GO:0031012 8.8 TECTA TECTB VWF

Biological processes related to Deafness, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 GJB2 OTOG TECTA

Molecular functions related to Deafness, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 TECTA TECTB VWF

Sources for Deafness, Autosomal Recessive 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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