Deafness, Autosomal Recessive 49 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Autosomal Recessive 49

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 Neuronal diseases Blood diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

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

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Summaries for Deafness, Autosomal Recessive 49

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 deafness, x-linked 2. 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

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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	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 49 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	nonsyndromic deafness	27.8	BTF3 CLDN14 GJB2 ILDR1 MARVELD2 POU3F4
2	deafness, x-linked 2	10.4	GJB2 POU3F4
3	non-syndromic genetic deafness	10.2	GJB2 MARVELD2 POU3F4
4	deafness, autosomal recessive 67	10.2	GJB2 ILDR1
5	auditory system disease	10.2	GJB2 ILDR1 POU3F4
6	acute vascular insufficiency of intestine	10.1	OCLN TJP1
7	deafness, autosomal recessive	10.0	GJB2 ILDR1 MARVELD2
8	sensorineural hearing loss	10.0	CLDN14 GJB2 POU3F4
9	autosomal recessive non-syndromic sensorineural deafness type dfnb	10.0	CLDN14 GJB2 ILDR1 MARVELD2
10	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.9
11	night blindness, congenital stationary, type 1a	9.6	OCLN TJP1
12	deafness, autosomal recessive 42	8.4	CCK ILDR1 ILDR2 LSR MARVELD2 TCOF1

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

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Symptoms & Phenotypes for Deafness, Autosomal Recessive 49

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	TCOF1 TJP1 CCK CLDN14 CLDN9 GJB2

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Drugs & Therapeutics for Deafness, Autosomal Recessive 49

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

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Genetic Tests for Deafness, Autosomal Recessive 49

Genetic tests related to Deafness, Autosomal Recessive 49:

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

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Anatomical Context for Deafness, Autosomal Recessive 49

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

⁴¹

Brain

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Publications for Deafness, Autosomal Recessive 49

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Genes for Deafness, Autosomal Recessive 49

Genes related to Deafness, Autosomal Recessive 49 (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MARVELD2	MARVEL Domain Containing 2	Protein Coding	1046.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	17186462 20301607 18084694
2	ILDR1	Immunoglobulin Like Domain Containing Receptor 1	Protein Coding	18.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	SLC30A5	Solute Carrier Family 30 Member 5	Protein Coding	16.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CLDN14	Claudin 14	Protein Coding	15.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	GJB2	Gap Junction Protein Beta 2	Protein Coding	15.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	POU3F4	POU Class 3 Homeobox 4	Protein Coding	15.17	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	OCLN	Occludin	Protein Coding	14.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	14.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	CCK	Cholecystokinin	Protein Coding	13.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	ILDR2	Immunoglobulin Like Domain Containing Receptor 2	Protein Coding	7.51	DISEASES inferred ¹⁵
11	CLDN9	Claudin 9	Protein Coding	6.64	DISEASES inferred ¹⁵
12	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	5.88	DISEASES inferred ¹⁵
13	BTF3	Basic Transcription Factor 3	Protein Coding	5.88	DISEASES inferred ¹⁵
14	LSR	Lipolysis Stimulated Lipoprotein Receptor	Protein Coding	5.79	DISEASES inferred ¹⁵
15	TJP1	Tight Junction Protein 1	Protein Coding	3.84	DISEASES inferred ¹⁵

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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, 4-BP DEL, IVS4+2TGAG	deletion	Pathogenic
2	MARVELD2	MARVELD2, IVS4DS, T-C, +2	single nucleotide variant	Pathogenic
3	MARVELD2	MARVELD2, IVS3AS, G-A, -1	single nucleotide variant	Pathogenic
4	MARVELD2	MARVELD2, IVS4DS, G-A, +1	single nucleotide variant	Pathogenic
5	MARVELD2	NM_001038603.2(MARVELD2): c.898T> A (p.Leu300Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72773422	GRCh37	Chromosome 5, 68716110: 68716110
6	MARVELD2	NM_001038603.2(MARVELD2): c.898T> A (p.Leu300Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs72773422	GRCh38	Chromosome 5, 69420283: 69420283
7	MARVELD2	NM_001038603.2(MARVELD2): c.1660G> A (p.Val554Ile)	single nucleotide variant	Uncertain significance	rs199708957	GRCh37	Chromosome 5, 68737464: 68737464
8	MARVELD2	NM_001038603.2(MARVELD2): c.1660G> A (p.Val554Ile)	single nucleotide variant	Uncertain significance	rs199708957	GRCh38	Chromosome 5, 69441637: 69441637

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Expression for Deafness, Autosomal Recessive 49

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

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Pathways for Deafness, Autosomal Recessive 49

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 Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.49	CLDN14 CLDN9 OCLN TJP1
2	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.18	CLDN14 GTF2H2 OCLN TJP1
3	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁵ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁵ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁵ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁵ Leukocyte transendothelial migration ³⁷	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

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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

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Sources for Deafness, Autosomal Recessive 49

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