Deafness, Congenital Heart Defects, and Posterior Embryotoxon disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards integrated aliases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Name: Deafness, Congenital Heart Defects, and Posterior Embryotoxon ⁵⁷ ⁷² ²⁹ ⁶

Dche ⁵⁷ ⁷²

Deafness, Congenital Heart Defects, Posterior Embryotoxon ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617992

MeSH ⁴⁴ D000013

MedGen ⁴¹ C1866053

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Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

UniProtKB/Swiss-Prot : ⁷² Deafness, congenital heart defects, and posterior embryotoxon: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis.

MalaCards based summary : Deafness, Congenital Heart Defects, and Posterior Embryotoxon, also known as dche, is related to alagille syndrome 1 and tetralogy of fallot. An important gene associated with Deafness, Congenital Heart Defects, and Posterior Embryotoxon is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include heart.

More information from OMIM: 617992

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Related Diseases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	alagille syndrome 1	10.3
2	tetralogy of fallot	10.3
3	pulmonic stenosis	10.3
4	branchiootic syndrome 1	10.3
5	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
6	ventricular septal defect	10.3
7	heart septal defect	10.3
8	familial deafness	10.3

Graphical network of the top 20 diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

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Symptoms & Phenotypes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect

Head And Neck Ears:
vestibular dysfunction
deafness (mild-to-severe, primarily affecting middle frequencies)
aplastic/hypoplastic semicircular canals

Head And Neck Eyes:
posterior embryotoxon

Cardiovascular Vascular:
peripheral pulmonic stenosis

Clinical features from OMIM®:

617992 (Updated 20-May-2021)

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Drugs & Therapeutics for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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Genetic Tests for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genetic tests related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

#	Genetic test	Affiliating Genes
1	Deafness, Congenital Heart Defects, and Posterior Embryotoxon ²⁹	JAG1

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Anatomical Context for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards organs/tissues related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

⁴⁰

Heart

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Publications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Articles related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

#	Title	Authors	PMID	Year
1	Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. ⁶¹ ⁶ ⁵⁷	Le Caignec C...Moisan JP	12022040	2002
2	Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. ⁵⁷ ⁶	Bauer RC...Spinner NB	20437614	2010
3	Evaluation of Existing Methods for High-Order Epistasis Detection. ⁶¹	Ponte-Fernandez C...Martin MJ	33055017	2020
4	Analgesic and anti-nociceptive activity of hydroethanolic extract of Drymaria cordata Willd. ⁶¹	Barua CC...Lahkar M	21572643	2011
5	Anxiolytic effect of hydroethanolic extract of Drymaria cordata L Willd. ⁶¹	Barua CC...Lahkar M	20329700	2009
6	Performance of silicon nanocrystal non-volatile memory devices under various programming mechanisms. ⁶¹	Ng CY...Li S	17455499	2007
7	[Na+, K+-ATPase activity and serotonin transport in the rat brain synaptosomes fractions after acute 1,2-dichloroethane intoxication and nicotinamide administration]. ⁶¹	Gubs'kyi IuI...Kuchmerovs'ka TM	16350752	2004

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Genes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genes related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1403.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	12022040 20437614

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Variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

ClinVar genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	JAG1	NM_000214.3(JAG1):c.551G>A (p.Arg184His)	SNV	Pathogenic	7620	rs121918351	GRCh37: 20:10639259-10639259 GRCh38: 20:10658611-10658611
2	JAG1	NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)	SNV	Likely pathogenic	7626	rs121918353	GRCh37: 20:10637100-10637100 GRCh38: 20:10656452-10656452
3	JAG1	NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	SNV	Uncertain significance	424319	rs143966918	GRCh37: 20:10620336-10620336 GRCh38: 20:10639688-10639688
4	JAG1	NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)	SNV	Uncertain significance	536530	rs769242977	GRCh37: 20:10620412-10620412 GRCh38: 20:10639764-10639764
5	JAG1	NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)	SNV	Uncertain significance	234323	rs149419694	GRCh37: 20:10622447-10622447 GRCh38: 20:10641799-10641799
6	JAG1	NM_000214.3(JAG1):c.1204C>G (p.Pro402Ala)	SNV	Uncertain significance	1028616		GRCh37: 20:10630925-10630925 GRCh38: 20:10650277-10650277

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	JAG1	p.Cys234Tyr	VAR_026318	rs121918353

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Expression for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Search GEO for disease gene expression data for Deafness, Congenital Heart Defects, and Posterior Embryotoxon.

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Pathways for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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GO Terms for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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Sources for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Deafness, Congenital Heart Defects, and Posterior Embryotoxon (DCHE)

Aliases & Classifications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards integrated aliases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Characteristics:

OMIM®:

Classifications:

External Ids:

Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Related Diseases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Symptoms & Phenotypes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genetic Tests for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genetic tests related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Anatomical Context for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

MalaCards organs/tissues related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Publications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Articles related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Genes for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Genes related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon (1 elite genes):

Variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

ClinVar genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:

Expression for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Pathways for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

GO Terms for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Sources for Deafness, Congenital Heart Defects, and Posterior Embryotoxon