DFNB21
MCID: DFN130
MIFTS: 38

Deafness, Autosomal Recessive 21 (DFNB21)

Categories: 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 70
Dfnb21 57 12 72
Autosomal Recessive Nonsyndromic Deafness 21 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 72
Deafness, Autosomal Recessive, Type 21 39
Deafness, Autosomal Recessive, 21 72
Autosomal Recessive Deafness 21 12

Characteristics:

OMIM®:

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

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110479
OMIM® 57 603629
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1863655
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1863655

Summaries for Deafness, Autosomal Recessive 21

UniProtKB/Swiss-Prot : 72 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 deafness, autosomal recessive 42 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. Related phenotypes are sensorineural hearing impairment and behavior/neurological

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.

More information from OMIM: 603629 PS220290

Related Diseases for Deafness, Autosomal Recessive 21

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 42 30.2 TECTA PJVK
2 deafness, autosomal recessive 3 30.1 MYO15A GJB2
3 deafness, autosomal recessive 29 30.0 TECTA GJB2
4 deafness, autosomal recessive 24 29.7 TECTA PJVK MYO15A LRTOMT
5 branchiootic syndrome 1 29.3 TMC1 TECTA TBCEL-TECTA PJVK OTOG GJB2
6 autosomal recessive nonsyndromic deafness 3 28.9 TMC1 PJVK MYO15A LRTOMT GJB2
7 nonsyndromic hearing loss 28.6 TMC1 TECTA TBCEL-TECTA PJVK MYO15A GJB2
8 deafness, autosomal dominant 12 28.2 ZAN TECTB TECTA TBCEL-TECTA OTOGL OTOG
9 deafness, autosomal dominant 31 10.3 ZAN TECTA
10 deafness, autosomal dominant 49 10.3 ZAN TECTA
11 deafness, autosomal recessive 113 10.3 TECTB CEACAM16
12 deafness, autosomal recessive 85 10.2 PJVK OTOA
13 deafness, autosomal recessive 61 10.2 TECTA OTOA
14 autosomal recessive nonsyndromic deafness 32 10.2 PJVK OTOA
15 deafness, autosomal recessive 25 10.2 PJVK MYO15A
16 deafness, autosomal dominant 21 10.2 ZAN TECTA COL11A2
17 deafness, autosomal dominant 64 10.2 GJB2 CEACAM16
18 deafness, autosomal recessive 26 10.2 TECTA GJB2
19 deafness, autosomal dominant 44 10.1 ZAN TECTA COL11A2
20 deafness, autosomal dominant 13 10.1 ZAN TECTA COL11A2
21 deafness, autosomal recessive 77 10.1 PJVK GJB2
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
23 deafness, autosomal recessive 91 10.1 OTOA GJB2
24 deafness, autosomal recessive 28 10.1 TECTA OTOA MYO15A
25 deafness, autosomal recessive 15 10.1 PJVK MYO15A CEACAM16
26 deafness, autosomal recessive 39 10.1 OTOA GJB2
27 deafness, autosomal recessive 83 10.1 PJVK OTOA MYO15A
28 deafness, autosomal recessive 67 10.1 PJVK LRTOMT
29 deafness, autosomal dominant 56 10.1 NID1 GJB2
30 deafness, autosomal dominant 1, with or without thrombocytopenia 10.1 TECTA MYO15A GJB2
31 deafness, autosomal recessive 18b 10.1 TECTA OTOGL OTOG
32 benign paroxysmal positional nystagmus 10.1 TECTA OTOGL OTOG
33 auditory neuropathy, autosomal dominant, 1 10.0 PJVK GJB2
34 deafness, autosomal recessive 49 10.0 PJVK MYO15A GJB2
35 developmental and epileptic encephalopathy 16 10.0 LRTOMT GJB2
36 deafness, autosomal recessive 66 10.0 OTOA COL11A2 CEACAM16
37 vestibular disease 10.0 OTOG MYO15A GJB2
38 deafness, autosomal recessive 1b 10.0 MYO15A GJB2 CEACAM16
39 deafness, autosomal dominant 3b 10.0 OTOA GJB2 CEACAM16
40 deafness, autosomal recessive 6 10.0 PJVK OTOA LRTOMT
41 otosclerosis 10.0 PJVK MYO15A GJB2
42 peripheral vertigo 10.0 OTOG GJB2
43 deafness, autosomal dominant 11 10.0 MYO15A GJB2 COL11A2
44 deafness, autosomal dominant 9 10.0 GJB2 COL11A2
45 deafness, autosomal recessive 35 10.0 PJVK OTOA LRTOMT
46 deafness, autosomal recessive 27 10.0 TMC1 PJVK
47 deafness, autosomal recessive 13 10.0 TMC1 PJVK
48 deafness, autosomal recessive 93 9.9 PJVK LRTOMT GJB2
49 stickler syndrome 9.9 TECTB TECTA GJB2 COL11A2
50 deafness, autosomal dominant 6 9.9 TECTA MYO15A GJB2 COL11A2

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

Human phenotypes related to Deafness, Autosomal Recessive 21:

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

Clinical features from OMIM®:

603629 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 21:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CEACAM16 COL11A2 LRTOMT MYO15A NID1 OTOG
2 hearing/vestibular/ear MP:0005377 9.73 CEACAM16 COL11A2 GJB2 LRTOMT MYO15A OTOA
3 nervous system MP:0003631 9.32 GJB2 LRTOMT MYO15A NID1 OTOA OTOG

Drugs & Therapeutics for Deafness, Autosomal Recessive 21

Search Clinical Trials , 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

Publications for Deafness, Autosomal Recessive 21

Articles related to Deafness, Autosomal Recessive 21:

(show all 14)
# Title Authors PMID Year
1
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. 57 61
17431902 2007
2
Distinctive audiometric profile associated with DFNB21 alleles of TECTA. 61 57
12746400 2003
3
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 61 57
9949200 1999
4
A novel TECTA mutation causes ARNSHL. 61
28012541 2017
5
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran. 61
28900455 2017
6
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family. 61
27368438 2016
7
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. 61
27398341 2016
8
Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin. 61
25758224 2015
9
Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment. 61
23936151 2013
10
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. 61
23113071 2011
11
Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. 61
20947814 2010
12
Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene. 61
18452040 2008
13
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. 61
18022253 2008
14
DFNB21. 61
12408078 2002

Variations for Deafness, Autosomal Recessive 21

ClinVar genetic disease variations for Deafness, Autosomal Recessive 21:

6 (show top 50) (show all 156)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5866C>T (p.Arg1956Ter) SNV Pathogenic 627480 rs1565536400 GRCh37: 11:121039501-121039501
GRCh38: 11:121168792-121168792
2 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.248C>T (p.Thr83Met) SNV Pathogenic 813831 rs145898158 GRCh37: 11:120979969-120979969
GRCh38: 11:121109260-121109260
3 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4857C>A (p.Cys1619Ter) SNV Pathogenic 402279 rs764153521 GRCh37: 11:121031011-121031011
GRCh38: 11:121160302-121160302
4 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.840_841insT (p.Val281fs) Insertion Pathogenic 562087 rs1565519673 GRCh37: 11:120989064-120989065
GRCh38: 11:121118355-121118356
5 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6162+5G>A SNV Pathogenic 562088 rs1565541888 GRCh37: 11:121058708-121058708
GRCh38: 11:121187999-121187999
6 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2736C>A (p.Cys912Ter) SNV Pathogenic 562089 rs368050948 GRCh37: 11:121000715-121000715
GRCh38: 11:121130006-121130006
7 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1247_1248del (p.Gly416fs) Deletion Pathogenic 619173 rs773573968 GRCh37: 11:120996052-120996053
GRCh38: 11:121125343-121125344
8 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3854G>C (p.Cys1285Ser) SNV Uncertain significance 417919 rs1060499597 GRCh37: 11:121016574-121016574
GRCh38: 11:121145865-121145865
9 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.972G>C (p.Val324=) SNV Uncertain significance 289305 rs147790742 GRCh37: 11:120989196-120989196
GRCh38: 11:121118487-121118487
10 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3406G>C (p.Asp1136His) SNV Uncertain significance 165360 rs147890616 GRCh37: 11:121008594-121008594
GRCh38: 11:121137885-121137885
11 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2088C>T (p.Cys696=) SNV Uncertain significance 502103 rs368288093 GRCh37: 11:120998774-120998774
GRCh38: 11:121128065-121128065
12 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3406G>C (p.Asp1136His) SNV Uncertain significance 165360 rs147890616 GRCh37: 11:121008594-121008594
GRCh38: 11:121137885-121137885
13 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6428C>T (p.Ser2143Leu) SNV Uncertain significance 303046 rs538443920 GRCh37: 11:121061475-121061475
GRCh38: 11:121190766-121190766
14 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3492C>T (p.Thr1164=) SNV Uncertain significance 178539 rs144012985 GRCh37: 11:121008680-121008680
GRCh38: 11:121137971-121137971
15 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) SNV Uncertain significance 178532 rs144682235 GRCh37: 11:120984338-120984338
GRCh38: 11:121113629-121113629
16 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) SNV Uncertain significance 498538 rs199638531 GRCh37: 11:121016805-121016805
GRCh38: 11:121146096-121146096
17 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.790+12C>T SNV Uncertain significance 178637 rs138644808 GRCh37: 11:120984439-120984439
GRCh38: 11:121113730-121113730
18 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.552C>T (p.Tyr184=) SNV Uncertain significance 877514 GRCh37: 11:120983846-120983846
GRCh38: 11:121113137-121113137
19 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1085G>T (p.Ser362Ile) SNV Uncertain significance 178533 rs149001418 GRCh37: 11:120989309-120989309
GRCh38: 11:121118600-121118600
20 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1291A>T (p.Thr431Ser) SNV Uncertain significance 177979 rs138843691 GRCh37: 11:120996098-120996098
GRCh38: 11:121125389-121125389
21 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2700G>A (p.Ser900=) SNV Uncertain significance 667169 rs375406423 GRCh37: 11:121000679-121000679
GRCh38: 11:121129970-121129970
22 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4813G>A (p.Val1605Ile) SNV Uncertain significance 228000 rs201952240 GRCh37: 11:121030967-121030967
GRCh38: 11:121160258-121160258
23 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2184C>T (p.Ser728=) SNV Uncertain significance 227990 rs148638616 GRCh37: 11:120998870-120998870
GRCh38: 11:121128161-121128161
24 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) SNV Uncertain significance 879126 GRCh37: 11:120989074-120989074
GRCh38: 11:121118365-121118365
25 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2945T>C (p.Leu982Pro) SNV Uncertain significance 45324 rs141616288 GRCh37: 11:121008133-121008133
GRCh38: 11:121137424-121137424
26 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3619G>A (p.Val1207Met) SNV Uncertain significance 229299 rs746231346 GRCh37: 11:121016339-121016339
GRCh38: 11:121145630-121145630
27 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3743C>T (p.Pro1248Leu) SNV Uncertain significance 403527 rs138768918 GRCh37: 11:121016463-121016463
GRCh38: 11:121145754-121145754
28 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5808C>T (p.Leu1936=) SNV Uncertain significance 228002 rs377039794 GRCh37: 11:121039443-121039443
GRCh38: 11:121168734-121168734
29 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.90A>T (p.Pro30=) SNV Uncertain significance 667171 rs577470721 GRCh37: 11:120976565-120976565
GRCh38: 11:121105856-121105856
30 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1502C>T (p.Ser501Phe) SNV Uncertain significance 178535 rs148426950 GRCh37: 11:120996309-120996309
GRCh38: 11:121125600-121125600
31 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2657A>G (p.Asn886Ser) SNV Uncertain significance 229296 rs146175803 GRCh37: 11:121000636-121000636
GRCh38: 11:121129927-121129927
32 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3769G>A (p.Gly1257Ser) SNV Uncertain significance 178822 rs727504469 GRCh37: 11:121016489-121016489
GRCh38: 11:121145780-121145780
33 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3317G>A (p.Gly1106Asp) SNV Uncertain significance 229298 rs144844263 GRCh37: 11:121008505-121008505
GRCh38: 11:121137796-121137796
34 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1509C>T (p.Cys503=) SNV Uncertain significance 303000 rs61733565 GRCh37: 11:120996316-120996316
GRCh38: 11:121125607-121125607
35 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) SNV Uncertain significance 178638 rs35107075 GRCh37: 11:120996243-120996243
GRCh38: 11:121125534-121125534
36 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4422C>T (p.Asn1474=) SNV Uncertain significance 45331 rs33981325 GRCh37: 11:121028666-121028666
GRCh38: 11:121157957-121157957
37 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2781T>C (p.His927=) SNV Uncertain significance 178636 rs142903119 GRCh37: 11:121000760-121000760
GRCh38: 11:121130051-121130051
38 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) SNV Uncertain significance 165370 rs144343770 GRCh37: 11:121039471-121039471
GRCh38: 11:121168762-121168762
39 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3556C>T (p.Arg1186Trp) SNV Uncertain significance 303016 rs148098950 GRCh37: 11:121016276-121016276
GRCh38: 11:121145567-121145567
40 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6250+4T>C SNV Uncertain significance 45342 rs143302176 GRCh37: 11:121059880-121059880
GRCh38: 11:121189171-121189171
41 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6458C>T (p.Thr2153Met) SNV Uncertain significance 303047 rs146965680 GRCh37: 11:121061505-121061505
GRCh38: 11:121190796-121190796
42 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2418G>A (p.Leu806=) SNV Uncertain significance 227994 rs138185038 GRCh37: 11:121000397-121000397
GRCh38: 11:121129688-121129688
43 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) SNV Uncertain significance 45317 rs139165033 GRCh37: 11:120998747-120998747
GRCh38: 11:121128038-121128038
44 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4061C>T (p.Thr1354Ile) SNV Uncertain significance 429887 rs148440178 GRCh37: 11:121016781-121016781
GRCh38: 11:121146072-121146072
45 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4315C>A (p.Leu1439Ile) SNV Uncertain significance 227094 rs202199158 GRCh37: 11:121028559-121028559
GRCh38: 11:121157850-121157850
46 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) SNV Uncertain significance 236058 rs140236996 GRCh37: 11:121038773-121038773
GRCh38: 11:121168064-121168064
47 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5012C>T (p.Ser1671Leu) SNV Uncertain significance 45335 rs142948530 GRCh37: 11:121032819-121032819
GRCh38: 11:121162110-121162110
48 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) SNV Uncertain significance 872040 GRCh37: 11:121023647-121023647
GRCh38: 11:121152938-121152938
49 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.33C>A (p.Val11=) SNV Uncertain significance 667166 rs140393508 GRCh37: 11:120973407-120973407
GRCh38: 11:121102698-121102698
50 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) SNV Uncertain significance 816881 rs199688655 GRCh37: 11:121000879-121000879
GRCh38: 11:121130170-121130170

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
10.79 TECTB TECTA OTOA

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 extracellular region GO:0005576 9.56 TECTB TECTA OTOGL OTOG OTOA NID1
2 anchored component of membrane GO:0031225 9.43 TECTB TECTA OTOA
3 stereocilium tip GO:0032426 9.16 TMC1 CEACAM16
4 extracellular matrix GO:0031012 9.1 ZAN TECTA OTOGL OTOG NID1 COL11A2

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 9.36 TMC1 TECTA PJVK OTOGL OTOG OTOA
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 TMC1 PJVK
3 auditory receptor cell development GO:0060117 9.26 TMC1 LRTOMT
4 cell-matrix adhesion GO:0007160 9.26 TECTA TBCEL-TECTA OTOA NID1
5 L-arabinose metabolic process GO:0046373 9.16 OTOGL OTOG

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 9.26 TECTB TECTA NID1 COL11A2
2 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Deafness, Autosomal Recessive 21

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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