Y-Linked Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Y-Linked Deafness

MalaCards integrated aliases for Y-Linked Deafness:

Name: Y-Linked Deafness ¹² ¹⁵

Deafness, Y-Linked ³⁶

Dfny ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111757

KEGG ³⁶ H02336

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Summaries for Y-Linked Deafness

KEGG : ³⁶ Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although Y-linked deafness is unusual and extremely rare, missense mutations in the TBL1Y gene has been found in families affected by HHL.

MalaCards based summary : Y-Linked Deafness, also known as deafness, y-linked, is related to deafness, y-linked 1 and deafness, y-linked 2. An important gene associated with Y-Linked Deafness is DFNY1 (Deafness, Y-Linked 1). Related phenotypes are hearing/vestibular/ear and nervous system

Disease Ontology : ¹² A nonsyndromic deafness characterized by a Y-lnked inheritance mode.

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Related Diseases for Y-Linked Deafness

Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3	Deafness, X-Linked 4
Deafness, X-Linked 6	Deafness, X-Linked 7
Deafness, X-Linked 2	Deafness, X-Linked 1
Deafness, Y-Linked 1	Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Y-Linked Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, y-linked 1	32.7	TMC2 TMC1 POU3F4 DFNY1
2	deafness, y-linked 2	12.2
3	deafness, autosomal recessive 6	10.3	TMIE TMC1
4	deafness, autosomal recessive 27	10.2	TMIE TMC1
5	deafness, autosomal recessive 1b	10.1	STRC POU3F4
6	nonsyndromic deafness	10.0	PCDH15 KCNQ4
7	deafness, autosomal dominant 16	10.0	STRC KCNQ4
8	deafness, autosomal dominant 18	10.0	KCNQ4 GSDME
9	deafness, autosomal recessive 23	10.0	TMC1 PCDH15
10	deafness, autosomal dominant 13	10.0	KCNQ4 GSDME
11	deafness, autosomal dominant 28	10.0	KCNQ4 GSDME
12	deafness, autosomal dominant 41	10.0	KCNQ4 GSDME
13	deafness, autosomal dominant 9	9.9	KCNQ4 GSDME
14	deafness, x-linked 2	9.9	TMIE STRC POU3F4
15	deafness, autosomal dominant 6	9.9	KCNQ4 GSDME
16	deafness, autosomal recessive 9	9.9	TMC1 OTOF
17	usher syndrome, type if	9.9	STRC PCDH15
18	deafness, autosomal recessive 93	9.9	TMC1 OTOF
19	waardenburg syndrome, type 1	9.9	POU3F4 GSDME
20	deafness, autosomal dominant 11	9.9	PCDH15 GSDME
21	autosomal recessive nonsyndromic deafness 3	9.9	TMC1 OTOF
22	deafness, x-linked 5, with peripheral neuropathy	9.9	POU3F4 OTOF
23	usher syndrome, type id	9.8	TMC1 STRC PCDH15
24	usher syndrome, type iic	9.8	STRC PCDH15
25	deafness, autosomal dominant 30	9.8	TMIE TMC2 TMC1
26	deafness, autosomal recessive 28	9.8	TMIE OTOF
27	deafness, autosomal dominant 15	9.8	TMC1 KCNQ4 GSDME
28	deafness, autosomal dominant 20	9.8	TMC1 KCNQ4 GSDME
29	deafness, autosomal recessive 63	9.8	TMIE TMC2 TMC1
30	deafness, autosomal recessive 8	9.8	TMC1 OTOF
31	deafness, autosomal recessive 61	9.8	STRC OTOF
32	autosomal dominant non-syndromic sensorineural deafness type dfna	9.8	TMC1 KCNQ4 GSDME
33	dfnb1	9.7	PCDH15 OTOF
34	deafness, autosomal recessive 48	9.7	TMC2 TMC1 PCDH15
35	x-linked nonsyndromic deafness	9.7	POU3F4 OTOF
36	deafness, autosomal dominant 25	9.7	OTOF KCNQ4
37	deafness, autosomal recessive 67	9.7	TMIE TMC2 PCDH15
38	deafness, autosomal recessive 22	9.6	TMIE STRC OTOF
39	epidermodysplasia verruciformis 1	9.5	TMC2 TMC1
40	branchiootic syndrome 1	9.5	TMC1 OTOF
41	deafness, autosomal recessive	9.5	TMIE PCDH15 OTOF
42	deafness, autosomal recessive 2	9.5	TMC1 PCDH15 OTOF
43	usher syndrome, type iia	9.5	STRC PCDH15 OTOF
44	usher syndrome, type ic	9.4	TMIE TMC2 TMC1 PCDH15
45	usher syndrome type 2	9.2	TMC1 STRC PCDH15 OTOF
46	deafness, autosomal recessive 16	9.2	TMIE STRC PCDH15 OTOF
47	deafness, autosomal recessive 7	9.2	TMIE TMC2 TMC1 OTOF
48	vestibular disease	9.1	POU3F4 PCDH15 OTOF KCNQ4
49	deafness, autosomal recessive 12	9.0	TMIE TMC1 STRC PCDH15 OTOF
50	autosomal recessive non-syndromic sensorineural deafness type dfnb	9.0	TMIE TMC1 STRC PCDH15 OTOF

Graphical network of the top 20 diseases related to Y-Linked Deafness:

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Symptoms & Phenotypes for Y-Linked Deafness

MGI Mouse Phenotypes related to Y-Linked Deafness:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.61	GSDME KCNQ4 OTOF PCDH15 POU3F4 STRC
2	nervous system	MP:0003631	9.28	GSDME KCNQ4 OTOF PCDH15 POU3F4 STRC

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Drugs & Therapeutics for Y-Linked Deafness

Search Clinical Trials , NIH Clinical Center for Y-Linked Deafness

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Genetic Tests for Y-Linked Deafness

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Anatomical Context for Y-Linked Deafness

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Publications for Y-Linked Deafness

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Genes for Y-Linked Deafness

Genes related to Y-Linked Deafness (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DFNY1	Deafness, Y-Linked 1	Genetic Locus	50	MalaCards inferred ⁴⁰
2	TMC1	Transmembrane Channel Like 1	Protein Coding	6.59	DISEASES inferred ¹⁵
3	POU3F4	POU Class 3 Homeobox 4	Protein Coding	6.42	DISEASES inferred ¹⁵
4	TMIE	Transmembrane Inner Ear	Protein Coding	6.39	DISEASES inferred ¹⁵
5	STRC	Stereocilin	Protein Coding	6.29	DISEASES inferred ¹⁵
6	GSDME	Gasdermin E	Protein Coding	6.05	DISEASES inferred ¹⁵
7	PCDH15	Protocadherin Related 15	Protein Coding	5.9	DISEASES inferred ¹⁵
8	TMC2	Transmembrane Channel Like 2	Protein Coding	5.88	DISEASES inferred ¹⁵
9	OTOF	Otoferlin	Protein Coding	5.82	DISEASES inferred ¹⁵
10	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	5.8	DISEASES inferred ¹⁵

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Variations for Y-Linked Deafness

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Expression for Y-Linked Deafness

Search GEO for disease gene expression data for Y-Linked Deafness.

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Pathways for Y-Linked Deafness

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GO Terms for Y-Linked Deafness

Cellular components related to Y-Linked Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	stereocilium	GO:0032420	8.96	STRC PCDH15
2	stereocilium tip	GO:0032426	8.8	TMC2 TMC1 STRC

Biological processes related to Y-Linked Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	inner ear morphogenesis	GO:0042472	9.4	TMIE KCNQ4
2	inner ear development	GO:0048839	9.37	POU3F4 PCDH15
3	auditory receptor cell stereocilium organization	GO:0060088	9.32	STRC PCDH15
4	regulation of calcium ion transmembrane transport	GO:1903169	9.26	TMC2 TMC1
5	detection of mechanical stimulus involved in sensory perception of sound	GO:0050910	9.26	TMC2 TMC1 STRC PCDH15
6	sensory perception of sound	GO:0007605	9.23	TMIE TMC1 STRC POU3F4 PCDH15 OTOF
7	vestibular reflex	GO:0060005	9.16	TMC2 TMC1

Molecular functions related to Y-Linked Deafness according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated calcium channel activity	GO:0005245	9.16	TMC2 TMC1
2	ion channel activity	GO:0005216	9.13	TMC2 TMC1 KCNQ4
3	mechanosensitive ion channel activity	GO:0008381	8.62	TMC2 TMC1

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Sources for Y-Linked Deafness

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

DFNY MCID: YLN003 MIFTS: 21	Y-Linked Deafness (DFNY) Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Related diseases Expand all tables

Y-Linked Deafness (DFNY)

Aliases & Classifications for Y-Linked Deafness

MalaCards integrated aliases for Y-Linked Deafness:

Classifications:

External Ids:

Summaries for Y-Linked Deafness

Related Diseases for Y-Linked Deafness

Diseases in the Y-Linked Deafness family:

Diseases related to Y-Linked Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Y-Linked Deafness:

Symptoms & Phenotypes for Y-Linked Deafness

MGI Mouse Phenotypes related to Y-Linked Deafness:

Drugs & Therapeutics for Y-Linked Deafness

Genetic Tests for Y-Linked Deafness

Anatomical Context for Y-Linked Deafness

Publications for Y-Linked Deafness

Genes for Y-Linked Deafness

Genes related to Y-Linked Deafness (1 elite genes):

Variations for Y-Linked Deafness

Expression for Y-Linked Deafness

Pathways for Y-Linked Deafness

GO Terms for Y-Linked Deafness

Cellular components related to Y-Linked Deafness according to GeneCards Suite gene sharing:

Biological processes related to Y-Linked Deafness according to GeneCards Suite gene sharing:

Molecular functions related to Y-Linked Deafness according to GeneCards Suite gene sharing:

Sources for Y-Linked Deafness