DFNB42
MCID: DFN244
MIFTS: 35

Deafness, Autosomal Recessive 42 (DFNB42)

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

Aliases & Classifications for Deafness, Autosomal Recessive 42

MalaCards integrated aliases for Deafness, Autosomal Recessive 42:

Name: Deafness, Autosomal Recessive 42 56 29 13 6 71
Dfnb42 56 12 73
Autosomal Recessive Nonsyndromic Deafness 42 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42 73
Congenital Neurosensory Deafness Autosomal Recessive 42 73
Deafness, Autosomal Recessive, Type 42 39
Deafness, Autosomal Recessive, 42 73
Autosomal Recessive Deafness 42 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 42:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110500
OMIM 56 609646
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1864818
SNOMED-CT via HPO 68 258211005 60700002 702322003
UMLS 71 C1864818

Summaries for Deafness, Autosomal Recessive 42

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 42: A prelingual, non-progressive 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 42, also known as dfnb42, is related to deafness, autosomal recessive 21 and deafness, autosomal recessive 24. An important gene associated with Deafness, Autosomal Recessive 42 is ILDR1 (Immunoglobulin Like Domain Containing Receptor 1), and among its related pathways/superpathways is Tight junction. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the ILDR1 gene on chromosome 3q13.

More information from OMIM: 609646 PS220290

Related Diseases for Deafness, Autosomal Recessive 42

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
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 42 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 21 29.8 TECTA PJVK
2 deafness, autosomal recessive 24 29.8 TECTA PJVK ILDR1
3 branchiootic syndrome 1 29.5 TECTA PTPRQ PJVK MARVELD2 ILDR1
4 deafness, autosomal recessive 29 29.0 TECTA MARVELD2 ILDR2 ILDR1 CLDN9 CLDN14
5 deafness, autosomal recessive 49 28.5 PJVK MARVELD2 LSR ILDR2 ILDR1 CLDN9
6 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.0 TECTA PTPRQ PJVK MSRB3 MARVELD2 ILDR1
7 hermansky-pudlak syndrome 7 10.3 ILDR2 ILDR1
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
9 nonsyndromic deafness 10.3
10 nonsyndromic hearing loss 10.3
11 deafness, autosomal recessive 39 10.1 PTPRQ CLDN14
12 deafness, autosomal recessive 57 10.1 PDZD7 CCDC27
13 deafness, autosomal recessive 67 10.0 PJVK ILDR1
14 deafness, autosomal recessive 61 10.0 TECTA PTPRQ
15 deafness, autosomal recessive 85 9.9 PTPRQ PJVK
16 deafness, autosomal dominant 51 9.9 TECTA MARVELD2 CLDN14
17 deafness, autosomal recessive 83 9.9 PTPRQ PJVK
18 autosomal recessive nonsyndromic deafness 3 9.8 TECTA PJVK
19 deafness, autosomal dominant 1 9.8 TECTA PTPRQ
20 deafness, autosomal recessive 53 9.8 TECTA PJVK
21 usher syndrome, type iic 9.8 PTPRQ PDZD7 CCDC27
22 deafness, autosomal recessive 1a 9.8 PJVK CLDN14
23 usher syndrome type 2 9.8 PTPRQ PDZD7 CCDC27
24 deafness, autosomal recessive 74 9.7 MSRB3 CLDN9
25 deafness, autosomal recessive 9 9.7 TECTA PJVK
26 deafness, autosomal recessive 12 9.7 TECTA PTPRQ
27 autosomal recessive nonsyndromic deafness 9.7 TECTA PJVK ILDR1
28 usher syndrome, type id 9.6 TECTA PTPRQ PDZD7
29 deafness, autosomal recessive 86 9.6 MSRB3 CLDN9
30 deafness, autosomal recessive 22 9.6 TECTA PTPRQ PJVK
31 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 TECTA PTPRQ
32 deafness, autosomal recessive 2 9.5 TECTA PJVK PDZD7
33 auditory system disease 9.5 TECTA PJVK ILDR1 CLDN14
34 deafness, autosomal recessive 15 9.5 PJVK MSRB3 ILDR1
35 rare genetic deafness 9.3 TECTA PJVK PDZD7 MARVELD2
36 deafness, autosomal recessive 9.2 PTPRQ PJVK PDZD7 MARVELD2 ILDR1
37 autosomal dominant nonsyndromic deafness 9.2 TECTA PTPRQ PJVK PDZD7
38 usher syndrome, type i 9.2 TECTA PTPRQ PJVK PDZD7
39 sensorineural hearing loss 9.0 TECTA PTPRQ PDZD7 MARVELD2 ILDR1 CLDN14

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 42:



Diseases related to Deafness, Autosomal Recessive 42

Symptoms & Phenotypes for Deafness, Autosomal Recessive 42

Human phenotypes related to Deafness, Autosomal Recessive 42:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
nonprogressive
deafness, neurosensory
affects all frequencies

Clinical features from OMIM:

609646

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 42:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 CLDN14 CLDN9 ILDR1 MARVELD2 MSRB3 PDZD7
2 nervous system MP:0003631 9.28 CLDN14 CLDN9 ILDR1 MARVELD2 MSRB3 PDZD7

Drugs & Therapeutics for Deafness, Autosomal Recessive 42

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 42

Genetic Tests for Deafness, Autosomal Recessive 42

Genetic tests related to Deafness, Autosomal Recessive 42:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 42 29 ILDR1

Anatomical Context for Deafness, Autosomal Recessive 42

MalaCards organs/tissues related to Deafness, Autosomal Recessive 42:

40
Brain

Publications for Deafness, Autosomal Recessive 42

Articles related to Deafness, Autosomal Recessive 42:

(show all 12)
# Title Authors PMID Year
1
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 61 56 6
21255762 2011
2
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. 6 56 61
15641023 2005
3
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. 61
29849566 2018
4
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
5
Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder. 61
28713423 2017
6
ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. 61
25819842 2015
7
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. 61
25217574 2015
8
Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 61
25822906 2015
9
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. 61
25668204 2015
10
Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42. 61
24990150 2014
11
[Molecular organization of tricellular tight junctions]. 61
24790043 2014
12
Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 61
23239027 2013

Variations for Deafness, Autosomal Recessive 42

ClinVar genetic disease variations for Deafness, Autosomal Recessive 42:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ILDR1 NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)SNV Pathogenic 562073 rs775062249 3:121712212-121712212 3:121993365-121993365
2 ILDR1 NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)deletion Pathogenic 562090 rs1226171550 3:121712564-121712564 3:121993717-121993717
3 ILDR1 NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter)SNV Pathogenic 627449 rs1559875009 3:121720158-121720158 3:122001311-122001311
4 ILDR1 NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter)SNV Pathogenic 695027 3:121712654-121712654 3:121993807-121993807
5 ILDR1 NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter)SNV Pathogenic 30796 rs387907015 3:121712461-121712461 3:121993614-121993614
6 ILDR1 NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)SNV Pathogenic 30797 rs387907016 3:121740922-121740922 3:122022075-122022075
7 ILDR1 NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)SNV Pathogenic 30798 rs387907017 3:121720218-121720218 3:122001371-122001371
8 ILDR1 NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys)SNV Uncertain significance 504597 rs376510686 3:121712305-121712305 3:121993458-121993458

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 42:

73
# Symbol AA change Variation ID SNP ID
1 ILDR1 p.Arg97Gln VAR_065352 rs771818841

Expression for Deafness, Autosomal Recessive 42

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 42.

Pathways for Deafness, Autosomal Recessive 42

Pathways related to Deafness, Autosomal Recessive 42 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 MARVELD2 CLDN9 CLDN14

GO Terms for Deafness, Autosomal Recessive 42

Cellular components related to Deafness, Autosomal Recessive 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.81 TECTA PTPRQ PJVK MARVELD2 LSR ILDR2
2 bicellular tight junction GO:0005923 9.13 MARVELD2 CLDN9 CLDN14
3 tricellular tight junction GO:0061689 8.8 MARVELD2 LSR ILDR1

Biological processes related to Deafness, Autosomal Recessive 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction organization GO:0045216 9.32 MARVELD2 CLDN9
2 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.26 CLDN9 CLDN14
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 PTPRQ PDZD7
4 bicellular tight junction assembly GO:0070830 9.13 MARVELD2 CLDN9 CLDN14
5 sensory perception of sound GO:0007605 8.92 TECTA PJVK PDZD7 MARVELD2

Sources for Deafness, Autosomal Recessive 42

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
Content
Loading form....