MCID: DFN244
MIFTS: 27

Deafness, Autosomal Recessive 42

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

Aliases & Classifications for Deafness, Autosomal Recessive 42

MalaCards integrated aliases for Deafness, Autosomal Recessive 42:

Name: Deafness, Autosomal Recessive 42 57 29 13 6 73
Dfnb42 57 12 75
Autosomal Recessive Nonsyndromic Deafness 42 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42 75
Congenital Neurosensory Deafness Autosomal Recessive 42 75
Deafness, Autosomal Recessive, Type 42 40
Deafness, Autosomal Recessive, 42 75
Autosomal Recessive Deafness 42 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 42:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:



External Ids:

OMIM 57 609646
Disease Ontology 12 DOID:0110500
ICD10 33 H90.3
MedGen 42 C1864818
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002 702322003
UMLS 73 C1864818

Summaries for Deafness, Autosomal Recessive 42

UniProtKB/Swiss-Prot : 75 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 nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 42 is ILDR1 (Immunoglobulin Like Domain Containing Receptor 1). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and endocrine/exocrine gland

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

Description from OMIM: 609646

Related Diseases for Deafness, Autosomal Recessive 42

Diseases in the Familial 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 32 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 Recessive 105 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 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.2 ILDR1 MARVELD2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 ILDR1 MARVELD2
4 deafness, autosomal recessive 9.8 ILDR1 MARVELD2
5 deafness, autosomal recessive 49 7.0 CCK ILDR1 ILDR2 LSR MARVELD2 TCOF1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, neurosensory
affects all frequencies
nonprogressive


Clinical features from OMIM:

609646

Human phenotypes related to Deafness, Autosomal Recessive 42:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 42:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 CCK ILDR2 MARVELD2 TCOF1
2 hearing/vestibular/ear MP:0005377 8.8 ILDR1 MARVELD2 TCOF1

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:

41
Brain

Publications for Deafness, Autosomal Recessive 42

Variations for Deafness, Autosomal Recessive 42

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

75
# Symbol AA change Variation ID SNP ID
1 ILDR1 p.Arg97Gln VAR_065352 rs771818841

ClinVar genetic disease variations for Deafness, Autosomal Recessive 42:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ILDR1 NM_001199799.1(ILDR1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs387907016 GRCh37 Chromosome 3, 121740922: 121740922
2 ILDR1 NM_001199799.1(ILDR1): c.1135G> T (p.Glu379Ter) single nucleotide variant Pathogenic rs387907015 GRCh37 Chromosome 3, 121712461: 121712461
3 ILDR1 NM_001199799.1(ILDR1): c.1135G> T (p.Glu379Ter) single nucleotide variant Pathogenic rs387907015 GRCh38 Chromosome 3, 121993614: 121993614
4 ILDR1 NM_001199799.1(ILDR1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs387907016 GRCh38 Chromosome 3, 122022075: 122022075
5 ILDR1 NM_001199799.1(ILDR1): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic rs387907017 GRCh37 Chromosome 3, 121720218: 121720218
6 ILDR1 NM_001199799.1(ILDR1): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic rs387907017 GRCh38 Chromosome 3, 122001371: 122001371
7 ILDR1 ILDR1, 1-BP DEL, 1032G deletion Pathogenic

Expression for Deafness, Autosomal Recessive 42

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

Pathways for Deafness, Autosomal Recessive 42

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 tricellular tight junction GO:0061689 8.8 ILDR1 LSR MARVELD2

Sources for Deafness, Autosomal Recessive 42

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....