DFNB21
MCID: DFN130
MIFTS: 34

Deafness, Autosomal Recessive 21 (DFNB21) malady

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

Aliases & Classifications for Deafness, Autosomal Recessive 21

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Aliases & Descriptions for Deafness, Autosomal Recessive 21:

Name: Deafness, Autosomal Recessive 21 52 12 68
Autosomal Recessive Nonsyndromic Deafness 21 11 13
Deafness, Autosomal Recessive, 21 70 27
Dfnb21 11 70
 
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 70
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 70
Autosomal Recessive Deafness 21 11

Characteristics:

HPO:

64
deafness, autosomal recessive 21:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 603629
Disease Ontology11 DOID:0110479
ICD1030 H90.3
MedGen37 C1863655
MeSH39 D006319

Summaries for Deafness, Autosomal Recessive 21

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UniProtKB/Swiss-Prot:70 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 autosomal recessive nonsyndromic deafness 21, is related to dfnb21 nonsyndromic hearing loss and deafness and spastic paraplegia 41, autosomal dominant, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 21 is TECTA (Tectorin Alpha), and among its related pathways is Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include brain, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Disease Ontology:11 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:52 603629

Related Diseases for Deafness, Autosomal Recessive 21

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Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 32
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 42 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Recessive 25 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 104
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 8/12 deafness, autosomal recessive 21
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 102
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1dfnb21 nonsyndromic hearing loss and deafness11.8
2spastic paraplegia 41, autosomal dominant10.1OTOG, TECTA
3autosomal dominant nonsyndromic deafness 6610.1OTOG, TECTA
4panic disorder 310.1GJB2, TECTA
5xanthinuria, type i10.1GJB2, TECTA
6preterm premature rupture of the membranes10.1GJB2, TECTA
7orofacial cleft10.1GJB2, TECTA
8autosomal recessive nonsyndromic deafness 9710.1GJB2, TECTA
9fibrochondrogenesis 210.0GJB2, OTOG
10seckel syndrome10.0GJB2, OTOG
11cockayne syndrome10.0GJB2, TECTA
12telangiectasia macularis eruptiva perstans10.0GJB2, TECTA
13narcissistic personality disorder10.0GJB2, TECTA
14mitochondrial non-syndromic sensorineural deafness9.9GJB2, OTOG, TECTA
15x-linked nonsyndromic deafness9.9GJB2, OTOG, TECTA
16obesity susceptibility, adrb3-related9.9GJB2, TECTA
17short-rib thoracic dysplasia 3 with or without polydactyly9.2GJB2, OTOG, SYTL1, TECTA, TECTB, VWF

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



Diseases related to deafness, autosomal recessive 21

Symptoms & Phenotypes for Deafness, Autosomal Recessive 21

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Symptoms by clinical synopsis from OMIM:

603629

Clinical features from OMIM:

603629

Human phenotypes related to Deafness, Autosomal Recessive 21:

 64
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 21 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3GJB2, OTOG, TECTA, TECTB
2MP:00036317.1GJB2, OTOG, SYTL1, TECTA, TECTB, VWF

Drugs & Therapeutics for Deafness, Autosomal Recessive 21

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 21

Genetic Tests for Deafness, Autosomal Recessive 21

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Genetic tests related to Deafness, Autosomal Recessive 21:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 2127

Anatomical Context for Deafness, Autosomal Recessive 21

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

36
Brain

Publications for Deafness, Autosomal Recessive 21

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Variations for Deafness, Autosomal Recessive 21

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Clinvar genetic disease variations for Deafness, Autosomal Recessive 21:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TECTANM_ 005422.2(TECTA): c.4857C> A (p.Cys1619Ter)SNVPathogenicrs764153521GRCh38Chr 11, 121160302: 121160302

Expression for genes affiliated with Deafness, Autosomal Recessive 21

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

Pathways for genes affiliated with Deafness, Autosomal Recessive 21

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5TECTA, TECTB

GO Terms for genes affiliated with Deafness, Autosomal Recessive 21

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

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:003122510.2TECTA, TECTB
2proteinaceous extracellular matrixGO:00055788.9TECTA, TECTB, VWF

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

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:000650110.1TECTA, TECTB
2sensory perception of soundGO:00076059.1GJB2, OTOG, TECTA

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.5TECTA, TECTB

Sources for Deafness, Autosomal Recessive 21

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet