DCHE
MCID: DFN191
MIFTS: 13

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 58 76 30 6 41
Dche 58 76

Classifications:



External Ids:

OMIM 58 617992
MeSH 45 D000013
MedGen 43 C1866053

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

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

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

Clinical features from OMIM:

617992

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 30 JAG1

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

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

42
Heart

Publications for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

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

# Title Authors 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. ( 12022040 )
2002

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.701G> A (p.Cys234Tyr) single nucleotide variant Likely pathogenic rs121918353 GRCh37 Chromosome 20, 10637100: 10637100
2 JAG1 NM_000214.3(JAG1): c.701G> A (p.Cys234Tyr) single nucleotide variant Likely pathogenic rs121918353 GRCh38 Chromosome 20, 10656452: 10656452

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....