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 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁴¹

Dche ⁵⁸ ⁷⁶

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617992

MeSH ⁴⁵ D000013

MedGen ⁴³ C1866053

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Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

UniProtKB/Swiss-Prot : ⁷⁶ 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 heart disease and familial deafness. An important gene associated with Deafness, Congenital Heart Defects, and Posterior Embryotoxon is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include heart.

Description 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	Top Affiliating Genes
1	heart disease	10.3
2	familial deafness	10.3

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

Clinical features from OMIM:

617992

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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 ³⁰	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:

⁴²

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	Year
1	Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. ( 20437614 )	Bauer RC...Spinner NB	2010
2	Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. ( 12022040 )	Le Caignec C...Moisan JP	2002

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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	PubmedIds
1	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1388.39	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)	12022040 20437614

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Variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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

⁷⁶

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

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	JAG1	NM_000214.3(JAG1): c.551G> A (p.Arg184His)	single nucleotide variant	Pathogenic	rs121918351	GRCh37	Chromosome 20, 10639259: 10639259
2	JAG1	NM_000214.3(JAG1): c.551G> A (p.Arg184His)	single nucleotide variant	Pathogenic	rs121918351	GRCh38	Chromosome 20, 10658611: 10658611
3	JAG1	NM_000214.3(JAG1): c.701G> A (p.Cys234Tyr)	single nucleotide variant	Likely pathogenic	rs121918353	GRCh37	Chromosome 20, 10637100: 10637100
4	JAG1	NM_000214.3(JAG1): c.701G> A (p.Cys234Tyr)	single nucleotide variant	Likely pathogenic	rs121918353	GRCh38	Chromosome 20, 10656452: 10656452
5	JAG1	NM_000214.3(JAG1): c.2666G> A (p.Arg889Gln)	single nucleotide variant	Uncertain significance	rs149419694	GRCh37	Chromosome 20, 10622447: 10622447
6	JAG1	NM_000214.3(JAG1): c.2666G> A (p.Arg889Gln)	single nucleotide variant	Uncertain significance	rs149419694	GRCh38	Chromosome 20, 10641799: 10641799
7	JAG1	NM_000214.3(JAG1): c.3467T> C (p.Val1156Ala)	single nucleotide variant	Uncertain significance	rs143966918	GRCh38	Chromosome 20, 10639688: 10639688
8	JAG1	NM_000214.3(JAG1): c.3467T> C (p.Val1156Ala)	single nucleotide variant	Uncertain significance	rs143966918	GRCh37	Chromosome 20, 10620336: 10620336
9	JAG1	NM_000214.3(JAG1): c.3391G> A (p.Ala1131Thr)	single nucleotide variant	Uncertain significance	rs769242977	GRCh37	Chromosome 20, 10620412: 10620412
10	JAG1	NM_000214.3(JAG1): c.3391G> A (p.Ala1131Thr)	single nucleotide variant	Uncertain significance	rs769242977	GRCh38	Chromosome 20, 10639764: 10639764

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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

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³⁸ KEGG

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⁷² TGDB

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⁷⁴ UMLS

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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:

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

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

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

ClinVar 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