Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
DFNB49
MCID: DFN092
MIFTS: 37

Deafness, Autosomal Recessive 49 (DFNB49)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Deafness, Autosomal Recessive 49

About this section

MalaCards integrated aliases for Deafness, Autosomal Recessive 49:

Name: Deafness, Autosomal Recessive 49 57 29 13 6 73
Dfnb49 57 12 75
Autosomal Recessive Nonsyndromic Deafness 49 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49 75
Deafness, Autosomal Recessive, Type 49 40
Deafness, Autosomal Recessive, 49 75
Autosomal Recessive Deafness 49 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 49:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 610153
Disease Ontology 12 DOID:0110506
ICD10 33 H90.3
MedGen 42 C1857811
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1857811
Sources

Summaries for Deafness, Autosomal Recessive 49

About this section
UniProtKB/Swiss-Prot : 75 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 49 is MARVELD2 (MARVEL Domain Containing 2), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include brain, and related phenotypes are prelingual sensorineural hearing impairment and behavior/neurological

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
Sources

Related Diseases for Deafness, Autosomal Recessive 49

About this section

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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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 29.4 BTF3 CLDN14 GJB2 ILDR1 MARVELD2 POU3F4
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 deafness, x-linked 2 10.1 GJB2 POU3F4
4 deafness, autosomal recessive 67 10.1 GJB2 ILDR1
5 branchiootic syndrome 1 10.1 GJB2 ILDR1 MARVELD2
6 auditory system disease 10.1 GJB2 ILDR1 POU3F4
7 acute vascular insufficiency of intestine 10.0 OCLN TJP1
8 non-syndromic genetic deafness 10.0 GJB2 MARVELD2 POU3F4
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0 CLDN14 GJB2 ILDR1 MARVELD2
10 night blindness, congenital stationary, type 1a 9.9 OCLN TJP1
11 sensorineural hearing loss 9.9 CLDN14 GJB2 POU3F4
12 deafness, autosomal recessive 42 9.5 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
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 49

About this section

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)


Clinical features from OMIM:

610153

Human phenotypes related to Deafness, Autosomal Recessive 49:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 49:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CCK CLDN14 CLDN9 ILDR1 MARVELD2 OCLN
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
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 49

About this section

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

Sources

Genetic Tests for Deafness, Autosomal Recessive 49

About this section

Genetic tests related to Deafness, Autosomal Recessive 49:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 49 29 MARVELD2
Sources

Anatomical Context for Deafness, Autosomal Recessive 49

About this section

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

41
Brain
Sources

Publications for Deafness, Autosomal Recessive 49

About this section

Articles related to Deafness, Autosomal Recessive 49:

# Title Authors Year
1
New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. ( 30406641 )
2018
Sources

Variations for Deafness, Autosomal Recessive 49

About this section

ClinVar genetic disease variations for Deafness, Autosomal Recessive 49:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MARVELD2 NM_001038603.2(MARVELD2): c.1183-1G> A single nucleotide variant Pathogenic rs200781822 GRCh38 Chromosome 5, 69432526: 69432526
2 MARVELD2 NM_001038603.2(MARVELD2): c.1331+4_1331+7delAGTG deletion Pathogenic
3 MARVELD2 MARVELD2, IVS4DS, T-C, +2 single nucleotide variant Pathogenic
4 MARVELD2 NM_001038603.2(MARVELD2): c.1183-1G> A single nucleotide variant Pathogenic rs200781822 GRCh37 Chromosome 5, 68728353: 68728353
5 MARVELD2 NM_001038603.2(MARVELD2): c.898T> A (p.Leu300Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72773422 GRCh38 Chromosome 5, 69420283: 69420283
6 MARVELD2 NM_001038603.2(MARVELD2): c.898T> A (p.Leu300Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72773422 GRCh37 Chromosome 5, 68716110: 68716110
7 MARVELD2 NM_001038603.2(MARVELD2): c.1331+1G> A single nucleotide variant Pathogenic rs762352115 GRCh38 Chromosome 5, 69432676: 69432676
8 MARVELD2 NM_001038603.2(MARVELD2): c.1331+1G> A single nucleotide variant Pathogenic rs762352115 GRCh37 Chromosome 5, 68728503: 68728503
9 MARVELD2 NM_001038603.2(MARVELD2): c.1660G> A (p.Val554Ile) single nucleotide variant Uncertain significance rs199708957 GRCh38 Chromosome 5, 69441637: 69441637
10 MARVELD2 NM_001038603.2(MARVELD2): c.1660G> A (p.Val554Ile) single nucleotide variant Uncertain significance rs199708957 GRCh37 Chromosome 5, 68737464: 68737464
Sources

Expression for Deafness, Autosomal Recessive 49

About this section
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 49.
Sources

Pathways for Deafness, Autosomal Recessive 49

About this section

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

# Super pathways Score Top Affiliating Genes
1
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.49 CLDN14 CLDN9 OCLN TJP1
2
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.18 CLDN14 GTF2H2 OCLN TJP1
3
Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways 65
Show member pathways
 12.14 CLDN14 CLDN9 OCLN TJP1
4
Cell adhesion molecules (CAMs) 37
11.7 CLDN14 CLDN9 OCLN
5
Hepatitis C 37
11.45 CLDN14 CLDN9 OCLN
6
Tight junction 37
11.25 CLDN14 CLDN9 MARVELD2 OCLN TJP1
7
Cell adhesion_Endothelial cell contacts by junctional mechanisms 22
10.64 CLDN14 OCLN TJP1
Sources

GO Terms for Deafness, Autosomal Recessive 49

About this section

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

Sources for Deafness, Autosomal Recessive 49

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....