DCHE
MCID: DFN191
MIFTS: 21

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

Categories: Ear diseases, Fetal diseases, Genetic diseases

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:



External Ids:

OMIM® 57 617992
MeSH 44 D000013
MedGen 41 C1866053

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

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 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:



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®:

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)

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

Search Clinical Trials , NIH Clinical Center 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:

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

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

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

40
Heart

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
12022040 2002
2
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 57 6
20437614 2010
3
Evaluation of Existing Methods for High-Order Epistasis Detection. 61
33055017 2020
4
Analgesic and anti-nociceptive activity of hydroethanolic extract of Drymaria cordata Willd. 61
21572643 2011
5
Anxiolytic effect of hydroethanolic extract of Drymaria cordata L Willd. 61
20329700 2009
6
Performance of silicon nanocrystal non-volatile memory devices under various programming mechanisms. 61
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
16350752 2004

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

Expression for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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