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 57 75 29 6 40
Dche 57 75

Classifications:



External Ids:

OMIM 57 617992
MedGen 42 C1866053
MeSH 44 D000013

Summaries for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

UniProtKB/Swiss-Prot : 75 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 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 29 JAG1

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

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

41
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:

75
# 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_000214.2(JAG1): c.701G> A (p.Cys234Tyr) single nucleotide variant Pathogenic rs121918353 GRCh37 Chromosome 20, 10637100: 10637100
2 JAG1 NM_000214.2(JAG1): c.701G> A (p.Cys234Tyr) single nucleotide variant 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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