MCID: DFN092
MIFTS: 39

Deafness, Autosomal Recessive 49

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

Aliases & Classifications for Deafness, Autosomal Recessive 49

MalaCards integrated aliases for Deafness, Autosomal Recessive 49:

Name: Deafness, Autosomal Recessive 49 53 28 13 69
Dfnb49 53 12 71
Autosomal Recessive Nonsyndromic Deafness 49 12 14
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:

53
Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 610153
Disease Ontology 12 DOID:0110506
ICD10 32 H90.3
MedGen 39 C1857811
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005
UMLS 69 C1857811

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 dfnb49, is related to nonsyndromic deafness and deafness, x-linked 2, 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 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 28.5 BTF3 CLDN14 GJB2 ILDR1 MARVELD2 POU3F4
2 deafness, x-linked 2 10.2 GJB2 POU3F4
3 non-syndromic genetic deafness 10.1 GJB2 MARVELD2 POU3F4
4 auditory system disease 10.1 GJB2 ILDR1 POU3F4
5 branchiootic syndrome 1 10.0
6 deafness, autosomal recessive 10.0 GJB2 ILDR1 MARVELD2
7 acute vascular insufficiency of intestine 10.0 OCLN TJP1
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0 CLDN14 GJB2 ILDR1 MARVELD2
9 deafness, autosomal recessive 67 10.0 GJB2 ILDR1
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
11 night blindness, congenital stationary, type 1a 9.9 OCLN TJP1
12 deafness, autosomal recessive 42 9.0 CCK ILDR1 ILDR2 LSR MARVELD2 TCOF1

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:

53
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)


Clinical features from OMIM:

610153

Human phenotypes related to Deafness, Autosomal Recessive 49:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 49:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 SLC30A5 CCK CLDN14 CLDN9 ILDR1 MARVELD2
2 hearing/vestibular/ear MP:0005377 9.5 CLDN14 CLDN9 GJB2 ILDR1 MARVELD2 POU3F4
3 nervous system MP:0003631 9.32 CCK CLDN14 CLDN9 GJB2 ILDR1 MARVELD2

Drugs & Therapeutics for Deafness, Autosomal Recessive 49

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 49

Genetic Tests for Deafness, Autosomal Recessive 49

Genetic tests related to Deafness, Autosomal Recessive 49:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 49 28 MARVELD2

Anatomical Context for Deafness, Autosomal Recessive 49

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

38
Brain

Publications for Deafness, Autosomal Recessive 49

Articles related to Deafness, Autosomal Recessive 49:

# Title Authors Year
1
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. ( 25666562 )
2015
2
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin. ( 25885414 )
2015
3
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. ( 22097895 )
2012
4
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. ( 15538632 )
2005

Variations for Deafness, Autosomal Recessive 49

ClinVar genetic disease variations for Deafness, Autosomal Recessive 49:

6
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 bicellular tight junction assembly GO:0070830 9.32 MARVELD2 OCLN
2 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.26 CLDN14 CLDN9
3 sensory perception of sound GO:0007605 9.26 GJB2 MARVELD2 POU3F4 TJP1
4 regulation of bicellular tight junction assembly GO:2000810 9.16 OCLN TJP1
5 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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