DFNB40
MCID: DFN173
MIFTS: 26

Deafness, Autosomal Recessive 40 (DFNB40)

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

Aliases & Classifications for Deafness, Autosomal Recessive 40

MalaCards integrated aliases for Deafness, Autosomal Recessive 40:

Name: Deafness, Autosomal Recessive 40 56 29 13 71
Autosomal Recessive Nonsyndromic Deafness 40 12 15
Dfnb40 56 12
Autosomal Recessive Deafness 40 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110499
OMIM 56 608264
OMIM Phenotypic Series 56 PS220290
ICD10 32 H90.3
MedGen 41 C1842345
SNOMED-CT via HPO 68 258211005
UMLS 71 C1842345

Summaries for Deafness, Autosomal Recessive 40

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.

MalaCards based summary : Deafness, Autosomal Recessive 40, also known as autosomal recessive nonsyndromic deafness 40, is related to branchiootic syndrome 1 and deafness, autosomal recessive. An important gene associated with Deafness, Autosomal Recessive 40 is DFNB40 (Deafness, Autosomal Recessive 40). Affiliated tissues include testes, and related phenotypes are prelingual sensorineural hearing impairment and behavior/neurological

More information from OMIM: 608264 PS220290

Related Diseases for Deafness, Autosomal Recessive 40

Diseases in the Rare 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
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
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 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 40 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.2 GRXCR1 CDH23
2 deafness, autosomal recessive 11.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 sensorineural hearing loss 10.2
5 baraitser-winter syndrome 9.8 CDH23 ACTB
6 deafness, autosomal dominant 27 9.8 SUN3 GRXCR1 CDH23
7 autosomal dominant nonsyndromic deafness 9.7 P2RX2 GRXCR1 CDH23
8 auditory system disease 9.7 UCN CDH23
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GRXCR1 CDH23
10 nonsyndromic deafness 9.6 UCN GRXCR1 CDH23
11 retinitis pigmentosa 74 9.6 HPRT1 ACTB
12 deafness, autosomal recessive 55 7.3 UCN SUN3 SUN1 P2RX2 HPRT1 GRXCR1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 40:



Diseases related to Deafness, Autosomal Recessive 40

Symptoms & Phenotypes for Deafness, Autosomal Recessive 40

Human phenotypes related to Deafness, Autosomal Recessive 40:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, sensorineural, prelingual, profound
hearing threshold at or above 90 db at all frequencies tested (0.25-8.0 khz)

Clinical features from OMIM:

608264

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 40:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ACTB CDH23 FOXG1 GRXCR1 HPRT1 SUN1
2 hearing/vestibular/ear MP:0005377 9.5 ACTB CDH23 FOXG1 GRXCR1 HPRT1 SUN1
3 nervous system MP:0003631 9.23 ACTB CDH23 FOXG1 GRXCR1 HPRT1 P2RX2

Drugs & Therapeutics for Deafness, Autosomal Recessive 40

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 40

Genetic Tests for Deafness, Autosomal Recessive 40

Genetic tests related to Deafness, Autosomal Recessive 40:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 40 29

Anatomical Context for Deafness, Autosomal Recessive 40

MalaCards organs/tissues related to Deafness, Autosomal Recessive 40:

40
Testes

Publications for Deafness, Autosomal Recessive 40

Articles related to Deafness, Autosomal Recessive 40:

# Title Authors PMID Year
1
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1. 61 56
14512974 2003

Variations for Deafness, Autosomal Recessive 40

Expression for Deafness, Autosomal Recessive 40

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 40.

Pathways for Deafness, Autosomal Recessive 40

GO Terms for Deafness, Autosomal Recessive 40

Cellular components related to Deafness, Autosomal Recessive 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.55 SUN3 SUN1 P2RX2 GRXCR1 CDH23
2 nuclear inner membrane GO:0005637 9.32 SUN3 SUN1
3 stereocilium GO:0032420 9.26 GRXCR1 CDH23
4 integral component of nuclear inner membrane GO:0005639 8.96 SUN1 P2RX2
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 8.62 SUN3 SUN1

Biological processes related to Deafness, Autosomal Recessive 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.26 GRXCR1 CDH23
2 nuclear envelope organization GO:0006998 9.16 SUN3 SUN1
3 cytoskeletal anchoring at nuclear membrane GO:0090286 8.96 SUN3 SUN1
4 sensory perception of sound GO:0007605 8.92 UCN P2RX2 GRXCR1 CDH23

Molecular functions related to Deafness, Autosomal Recessive 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.62 SUN3 SUN1

Sources for Deafness, Autosomal Recessive 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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