MCID: DFN280
MIFTS: 35

Deafness, Autosomal Recessive

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

Aliases & Classifications for Deafness, Autosomal Recessive

MalaCards integrated aliases for Deafness, Autosomal Recessive:

Name: Deafness, Autosomal Recessive 57 36 6 39

Classifications:



External Ids:

OMIM® 57 607197
KEGG 36 H00605
MedGen 41 C1846647

Summaries for Deafness, Autosomal Recessive

KEGG : 36 Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal- dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of deafness, where the hearing loss in most cases is conductive (external and/or middle ear developmental defects) or mixed.

MalaCards based summary : Deafness, Autosomal Recessive is related to deafness, autosomal recessive 8 and deafness, autosomal recessive 7. An important gene associated with Deafness, Autosomal Recessive is PCDH15 (Protocadherin Related 15). Related phenotypes are hearing/vestibular/ear and nervous system

More information from OMIM: 607197

Related Diseases for Deafness, Autosomal Recessive

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 33.4 PJVK OTOF LOXHD1 GJB2
2 deafness, autosomal recessive 7 33.3 SLC26A4 PJVK OTOF GJB2
3 deafness, autosomal recessive 18a 33.3 USH1C PCDH15
4 deafness, autosomal recessive 49 33.2 PJVK MARVELD2 GJB2
5 deafness, autosomal recessive 39 33.2 LOXHD1 GJB2
6 deafness, autosomal recessive 93 33.2 PJVK OTOF GJB2
7 deafness, autosomal recessive 61 33.2 SLC26A4 OTOF
8 deafness, autosomal recessive 77 33.2 SLC26A4 PJVK LOXHD1 GJB2
9 deafness, autosomal recessive 59 33.2 PJVK OTOF
10 deafness, autosomal recessive 42 33.1 PJVK MARVELD2
11 deafness, autosomal recessive 16 33.1 OTOF GJB2
12 deafness, autosomal recessive 67 33.1 PJVK PCDH15 CIB2
13 deafness, autosomal recessive 29 33.0 MARVELD2 GJB2
14 deafness, autosomal recessive 21 33.0 PJVK GJB2
15 deafness, autosomal recessive 9 33.0 SLC26A4 PJVK OTOF GJB2
16 deafness, autosomal recessive 79 32.8 GPSM2 GJB2
17 deafness, autosomal recessive 1a 32.7 SLC26A4 PJVK OTOF GJB3 GJB2
18 deafness, autosomal recessive 20 32.7 GJB2 DFNB20
19 deafness, autosomal recessive 91 32.7 GJB3 GJB2
20 deafness, autosomal recessive 13 32.7 PJVK DFNB13
21 deafness, autosomal recessive 27 32.7 PJVK DFNB27
22 deafness, autosomal recessive 1b 32.6 GJB3 GJB2
23 autosomal recessive nonsyndromic deafness 36 32.6 USH1C PCDH15
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.6 USH1C SLC26A4 PJVK PCDH15 OTOF LOXHD1
25 deafness, autosomal recessive 23 32.6 USH1G USH1C PCDH15 GJB2
26 autosomal recessive nonsyndromic deafness 32 32.5 PJVK GPSM2
27 deafness, autosomal recessive 63 32.5 PJVK MYH9
28 deafness, autosomal recessive 2 32.4 USH1G USH1C SLC26A4 PJVK PCDH15 OTOF
29 deafness, autosomal recessive 85 32.4 PJVK OTOF GPSM2
30 deafness, autosomal recessive 83 32.4 SLC26A4 PJVK OTOF GPSM2
31 autosomal recessive nonsyndromic deafness 3 32.4 SLC26A4 PJVK OTOF GJB2
32 autosomal recessive nonsyndromic deafness 32.0 SLC26A4 PCDH15 OTOF GPSM2 GJB2
33 deafness, autosomal recessive 12 32.0 USH1G USH1C SLC26A4 PJVK PCDH15 OTOF
34 deafness, autosomal recessive 15 11.7
35 deafness, autosomal recessive 84a 11.7
36 deafness, autosomal recessive 37 11.7
37 deafness, autosomal recessive 3 11.6
38 deafness, autosomal recessive 6 11.6
39 deafness, autosomal recessive 22 11.6
40 deafness, autosomal recessive 31 11.6
41 deafness, autosomal recessive 48 11.6
42 deafness, autosomal recessive 53 11.6
43 deafness, autosomal recessive 28 11.6
44 deafness, autosomal recessive 36, with or without vestibular involvement 11.6
45 deafness, autosomal recessive 30 11.6
46 deafness, autosomal recessive 35 11.6
47 deafness, autosomal recessive 44 11.6
48 deafness, autosomal recessive 66 11.6
49 deafness, autosomal recessive 68 11.6
50 deafness, autosomal recessive 24 11.6

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



Diseases related to Deafness, Autosomal Recessive

Symptoms & Phenotypes for Deafness, Autosomal Recessive

Clinical features from OMIM®:

607197 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.73 CIB2 GJB2 GJB3 GPSM2 MARVELD2 MYH9
2 nervous system MP:0003631 9.36 CIB2 GJB2 GPSM2 MARVELD2 MYH9 OTOF

Drugs & Therapeutics for Deafness, Autosomal Recessive

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

Genetic Tests for Deafness, Autosomal Recessive

Anatomical Context for Deafness, Autosomal Recessive

Publications for Deafness, Autosomal Recessive

Articles related to Deafness, Autosomal Recessive:

(show all 19)
# Title Authors PMID Year
1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. 6
30303587 2019
2
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 6
27082237 2016
3
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 57
12457340 2003
4
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. 57
11741837 2001
5
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. 6
10587579 2000
6
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. 61
30760222 2019
7
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
8
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. 61
29568747 2018
9
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling. 61
28941661 2017
10
Genetics Of Human Hereditary Hearing Impairment. 61
29331002 2017
11
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. 61
27260575 2016
12
A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss. 61
26810297 2016
13
The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors. 61
25698744 2015
14
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 61
22678063 2012
15
Subcellular localization of the transmembrane inner ear (Tmie) protein in a stable Tmie-expressing cell line. 61
22232643 2011
16
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. 61
21738389 2011
17
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. 61
20352026 2010
18
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. 61
17229086 2006
19
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. 61
15464308 2004

Variations for Deafness, Autosomal Recessive

ClinVar genetic disease variations for Deafness, Autosomal Recessive:

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
2 GJB3 NM_024009.3(GJB3):c.421_423del (p.Ile141del) Deletion Pathogenic 6487 rs770247378 GRCh37: 1:35250784-35250786
GRCh38: 1:34785183-34785185
3 GJB3 NM_024009.3(GJB3):c.421A>G (p.Ile141Val) SNV Pathogenic 6488 rs74315320 GRCh37: 1:35250784-35250784
GRCh38: 1:34785183-34785183
4 OTOF NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg) SNV Pathogenic 252378 rs879255246 GRCh37: 2:26707436-26707436
GRCh38: 2:26484568-26484568
5 GPSM2 NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) SNV Pathogenic 1823 rs267606854 GRCh37: 1:109440214-109440214
GRCh38: 1:108897592-108897592
6 MYH9 NM_002473.5(MYH9):c.5137A>G (p.Ser1713Gly) SNV Pathogenic 402285 rs764139009 GRCh37: 22:36681924-36681924
GRCh38: 22:36285878-36285878
7 GPSM2 NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) SNV Pathogenic 402258 rs1060499797 GRCh37: 1:109445771-109445771
GRCh38: 1:108903149-108903149
8 SLC26A4 NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) Duplication Pathogenic 267322 rs1554358720 GRCh37: 7:107330580-107330581
GRCh38: 7:107690135-107690136
9 LOXHD1 NM_144612.6(LOXHD1):c.3061+1G>A SNV Pathogenic 523622 rs537227442 GRCh37: 18:44140045-44140045
GRCh38: 18:46560082-46560082
10 PCDH15 NM_033056.4(PCDH15):c.3101G>A (p.Arg1034His) SNV Pathogenic 544690 rs907693214 GRCh37: 10:55719513-55719513
GRCh38: 10:53959753-53959753
11 CLIC5 NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter) SNV Likely pathogenic 694310 rs1043716893 GRCh37: 6:45870937-45870937
GRCh38: 6:45903200-45903200
12 ANKRD36 NM_001354587.1(ANKRD36):c.2479-1G>A SNV Likely pathogenic 917512 GRCh37: 2:97860581-97860581
GRCh38: 2:97194844-97194844
13 ANKRD36 NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) SNV Likely pathogenic 917513 GRCh37: 2:97862461-97862461
GRCh38: 2:97196724-97196724
14 MYO7A NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) SNV Likely pathogenic 562092 rs750358148 GRCh37: 11:76901162-76901162
GRCh38: 11:77190117-77190117
15 MYO7A NM_000260.4(MYO7A):c.5326+3A>G SNV Likely pathogenic 560895 rs1565469959 GRCh37: 11:76914265-76914265
GRCh38: 11:77203220-77203220
16 MYO7A NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) SNV Likely pathogenic 560898 rs751242455 GRCh37: 11:76915139-76915139
GRCh38: 11:77204094-77204094
17 MYO7A NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) SNV Likely pathogenic 632175 rs377267777 GRCh37: 11:76915228-76915228
GRCh38: 11:77204183-77204183
18 MYO7A NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) SNV Likely pathogenic 560894 rs746667217 GRCh37: 11:76916548-76916548
GRCh38: 11:77205503-77205503
19 MYO7A NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) SNV Likely pathogenic 43295 rs199606180 GRCh37: 11:76917165-76917165
GRCh38: 11:77206120-77206120
20 MYO7A NM_000260.4(MYO7A):c.5856+5G>C SNV Likely pathogenic 562097 rs1386887007 GRCh37: 11:76918452-76918452
GRCh38: 11:77207407-77207407
21 MYO15A NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) SNV Likely pathogenic 996594 GRCh37: 17:18024570-18024570
GRCh38: 17:18121256-18121256
22 MYO15A NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) SNV Likely pathogenic 498654 rs781546107 GRCh37: 17:18025619-18025619
GRCh38: 17:18122305-18122305
23 MYO15A NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) SNV Likely pathogenic 375675 rs779077039 GRCh37: 17:18039070-18039070
GRCh38: 17:18135756-18135756
24 MYO15A NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) SNV Likely pathogenic 562083 rs1209665716 GRCh37: 17:18039112-18039112
GRCh38: 17:18135798-18135798
25 MYO15A NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) SNV Likely pathogenic 562078 rs1567641234 GRCh37: 17:18041558-18041558
GRCh38: 17:18138244-18138244
26 MYO15A NM_016239.4(MYO15A):c.8224+3A>G SNV Likely pathogenic 375677 rs1057519605 GRCh37: 17:18058072-18058072
GRCh38: 17:18154758-18154758
27 OTOA NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) SNV Likely pathogenic 178502 rs145160241 GRCh37: 16:21739665-21739665
GRCh38: 16:21728344-21728344
28 OTOA NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) SNV Likely pathogenic 100654 rs200656442 GRCh37: 16:21726337-21726337
GRCh38: 16:21715016-21715016
29 LHFPL5 NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) Deletion Likely pathogenic 1694 rs779841884 GRCh37: 6:35773693-35773693
GRCh38: 6:35805916-35805916
30 CLDN14 NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) SNV Likely pathogenic 4851 rs74315437 GRCh37: 21:37833740-37833740
GRCh38: 21:36461442-36461442
31 CDH23 NM_022124.6(CDH23):c.6050-9G>A SNV Likely pathogenic 46001 rs367928692 GRCh37: 10:73550880-73550880
GRCh38: 10:71791123-71791123
32 BSND NM_057176.3(BSND):c.35T>C (p.Ile12Thr) SNV Likely pathogenic 4388 rs121908144 GRCh37: 1:55464894-55464894
GRCh38: 1:54999221-54999221
33 MYO7A NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) SNV Likely pathogenic 517448 rs757460257 GRCh37: 11:76909603-76909603
GRCh38: 11:77198558-77198558
34 CABP2 NM_016366.3(CABP2):c.637+1G>T SNV Likely pathogenic 597198 rs149712664 GRCh37: 11:67287263-67287263
GRCh38: 11:67519792-67519792
35 CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) SNV Likely pathogenic 444219 rs756147087 GRCh37: 10:73464800-73464800
GRCh38: 10:71705043-71705043
36 GIPC3 NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile) SNV Likely pathogenic 871900 GRCh37: 19:3589510-3589510
GRCh38: 19:3589512-3589512
37 MYO7A NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) SNV Likely pathogenic 164664 rs797044491 GRCh37: 11:76869450-76869450
GRCh38: 11:77158404-77158404
38 MYO7A NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) SNV Likely pathogenic 504508 rs782539587 GRCh37: 11:76872076-76872076
GRCh38: 11:77161030-77161030
39 TMIE NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) SNV Likely pathogenic 3391 rs28942097 GRCh37: 3:46750654-46750654
GRCh38: 3:46709164-46709164
40 TMPRSS3 NM_001256317.3(TMPRSS3):c.323-6G>A SNV Likely pathogenic 46113 rs374793617 GRCh37: 21:43808641-43808641
GRCh38: 21:42388532-42388532
41 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) Deletion Likely pathogenic 438178 rs1199012623 GRCh37: 11:76910849-76910849
GRCh38: 11:77199804-77199804
42 OTOF NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) SNV Likely pathogenic 21831 rs80356590 GRCh37: 2:26702224-26702224
GRCh38: 2:26479356-26479356
43 SLC26A4 NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) SNV Likely pathogenic 43566 rs111033256 GRCh37: 7:107315505-107315505
GRCh38: 7:107675060-107675060
44 SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Likely pathogenic 4840 rs111033313 GRCh37: 7:107323898-107323898
GRCh38: 7:107683453-107683453
45 SLC26A4 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) SNV Likely pathogenic 189039 rs146281367 GRCh37: 7:107323982-107323982
GRCh38: 7:107683537-107683537
46 SLC26A4 NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) Deletion Likely pathogenic 43494 rs397516413 GRCh37: 7:107330616-107330616
GRCh38: 7:107690171-107690171
47 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Likely pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
48 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Likely pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
49 GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) SNV Likely pathogenic 17011 rs104894402 GRCh37: 13:20763498-20763498
GRCh38: 13:20189359-20189359
50 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Likely pathogenic 17027 rs28931593 GRCh37: 13:20763497-20763497
GRCh38: 13:20189358-20189358

Expression for Deafness, Autosomal Recessive

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

Pathways for Deafness, Autosomal Recessive

GO Terms for Deafness, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.33 USH1C PCDH15 CIB2
2 connexin complex GO:0005922 9.26 GJB3 GJB2
3 photoreceptor inner segment GO:0001917 9.13 USH1G USH1C CIB2
4 stereocilium GO:0032420 8.92 USH1C PCDH15 LOXHD1 CIB2

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.46 USH1G USH1C PCDH15 CIB2
2 sensory perception of light stimulus GO:0050953 9.43 USH1G USH1C PCDH15
3 inner ear receptor cell stereocilium organization GO:0060122 9.32 USH1G USH1C
4 sensory perception of sound GO:0007605 9.28 USH1G USH1C SLC26A4 PJVK PCDH15 OTOF
5 equilibrioception GO:0050957 9.13 USH1G USH1C PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.96 USH1G USH1C
2 gap junction channel activity GO:0005243 8.62 GJB3 GJB2

Sources for Deafness, Autosomal Recessive

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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