MCID: DFN092
MIFTS: 37

Deafness, Autosomal Recessive 49

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

Aliases & Classifications for Deafness, Autosomal Recessive 49

MalaCards integrated aliases for Deafness, Autosomal Recessive 49:

Name: Deafness, Autosomal Recessive 49 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 49 12 14
Dfnb49 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49 71
Deafness, Autosomal Recessive, 49 71
Autosomal Recessive Deafness 49 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610153
Disease Ontology 12 DOID:0110506
ICD10 33 H90.3
MedGen 40 C1857811
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005

Summaries for Deafness, Autosomal Recessive 49

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 49: 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 49, also known as autosomal recessive nonsyndromic deafness 49, is related to dfnb49 nonsyndromic hearing loss and deafness and psoriatic arthritis, and has symptoms including prelingual sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 49 is MARVELD2 (MARVEL Domain Containing 2), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Affiliated tissues include brain, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has material basis in mutation in the MARVELD2 gene on chromosome 5q13.

Description from OMIM: 610153

Related Diseases for Deafness, Autosomal Recessive 49

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 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
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 Dominant 70 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 Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 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 Recessive 97
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 106
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 Dominant 73 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 Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 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 Recessive 107
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 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 49 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 dfnb49 nonsyndromic hearing loss and deafness 11.8
2 psoriatic arthritis 10.3 GJB2 ILDR1
3 nonsyndromic hydrocephalus, ccdc88c-related 10.2 GJB2 MARVELD2 POU3F4
4 deafness, autosomal recessive 10.1 GJB2 ILDR1 MARVELD2
5 narcissistic personality disorder 10.1 GJB2 ILDR1 POU3F4
6 discrete papular lichen myxedematosus 10.0 CLDN14 GJB2 ILDR1 MARVELD2
7 upper gum cancer 9.9 OCLN TJP1
8 nonsyndromic deafness 9.9
9 exudative vitreoretinopathy 2, x-linked 9.7 OCLN TJP1
10 autosomal recessive nonsyndromic deafness 8.9 BTF3 CLDN14 GJB2 ILDR1 MARVELD2 POU3F4
11 senior-loken syndrome 5 8.6 CCK ILDR1 ILDR2 LSR MARVELD2 TCOF1
12 pseudo-torch syndrome 1 5.1 BTF3 CCK CLDN14 CLDN9 GJB2 GTF2H2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 49:



Diseases related to Deafness, Autosomal Recessive 49

Symptoms & Phenotypes for Deafness, Autosomal Recessive 49

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
deafness, prelingual, profound (affects all frequencies)


Clinical features from OMIM:

610153

Human phenotypes related to Deafness, Autosomal Recessive 49:

32
id Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 32 HP:0000399

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 49:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CCK CLDN14 CLDN9 MARVELD2 OCLN POU3F4
2 hearing/vestibular/ear MP:0005377 9.5 CLDN14 CLDN9 GJB2 ILDR1 MARVELD2 POU3F4
3 nervous system MP:0003631 9.32 POU3F4 TCOF1 TJP1 CCK CLDN14 CLDN9

Drugs & Therapeutics for Deafness, Autosomal Recessive 49

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027

Search NIH Clinical Center for Deafness, Autosomal Recessive 49

Genetic Tests for Deafness, Autosomal Recessive 49

Genetic tests related to Deafness, Autosomal Recessive 49:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 49 29

Anatomical Context for Deafness, Autosomal Recessive 49

MalaCards organs/tissues related to Deafness, Autosomal Recessive 49:

39
Brain

Publications for Deafness, Autosomal Recessive 49

Variations for Deafness, Autosomal Recessive 49

ClinVar genetic disease variations for Deafness, Autosomal Recessive 49:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MARVELD2 MARVELD2, IVS3AS, G-A, -1 single nucleotide variant Pathogenic
2 MARVELD2 MARVELD2, 4-BP DEL, IVS4+2TGAG deletion Pathogenic
3 MARVELD2 MARVELD2, IVS4DS, T-C, +2 single nucleotide variant Pathogenic
4 MARVELD2 MARVELD2, IVS4DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Deafness, Autosomal Recessive 49

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 49.

GO Terms for Deafness, Autosomal Recessive 49

Cellular components related to Deafness, Autosomal Recessive 49 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.63 CLDN14 CLDN9 GJB2 MARVELD2 OCLN TJP1
2 apical plasma membrane GO:0016324 9.56 MARVELD2 OCLN SLC30A5 TJP1
3 gap junction GO:0005921 9.37 GJB2 TJP1
4 bicellular tight junction GO:0005923 9.35 CLDN14 CLDN9 MARVELD2 OCLN TJP1
5 apicolateral plasma membrane GO:0016327 9.32 OCLN TJP1
6 tricellular tight junction GO:0061689 8.8 ILDR1 LSR MARVELD2

Biological processes related to Deafness, Autosomal Recessive 49 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 bicellular tight junction assembly GO:0070830 9.26 MARVELD2 OCLN
2 sensory perception of sound GO:0007605 9.26 GJB2 MARVELD2 POU3F4 TJP1
3 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.16 CLDN14 CLDN9
4 cell-cell junction organization GO:0045216 8.8 CLDN9 MARVELD2 OCLN

Sources for Deafness, Autosomal Recessive 49

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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