CHED1
MCID: CNG400
MIFTS: 12

Congenital Hereditary Endothelial Dystrophy Type I (CHED1)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Congenital Hereditary Endothelial Dystrophy Type I

MalaCards integrated aliases for Congenital Hereditary Endothelial Dystrophy Type I:

Name: Congenital Hereditary Endothelial Dystrophy Type I 59
Autosomal Dominant Congenital Hereditary Endothelial Dystrophy 59
Corneal Endothelial Dystrophy 1, Autosomal Dominant 73
Congenital Hereditary Endothelial Dystrophy Type 1 59
Autosomal Dominant Ched 59
Ched1 59
Chedi 59

Characteristics:

Orphanet epidemiological data:

59
congenital hereditary endothelial dystrophy type i
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA98975
UMLS via Orphanet 74 C1562689
ICD10 via Orphanet 34 H18.5
UMLS 73 C1852555

Summaries for Congenital Hereditary Endothelial Dystrophy Type I

MalaCards based summary : Congenital Hereditary Endothelial Dystrophy Type I, also known as autosomal dominant congenital hereditary endothelial dystrophy, is related to corneal dystrophy, posterior polymorphous, 1. An important gene associated with Congenital Hereditary Endothelial Dystrophy Type I is OVOL2 (Ovo Like Zinc Finger 2). Affiliated tissues include endothelial and eye.

Related Diseases for Congenital Hereditary Endothelial Dystrophy Type I

Diseases related to Congenital Hereditary Endothelial Dystrophy Type I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous, 1 11.4

Symptoms & Phenotypes for Congenital Hereditary Endothelial Dystrophy Type I

Drugs & Therapeutics for Congenital Hereditary Endothelial Dystrophy Type I

Search Clinical Trials , NIH Clinical Center for Congenital Hereditary Endothelial Dystrophy Type I

Genetic Tests for Congenital Hereditary Endothelial Dystrophy Type I

Anatomical Context for Congenital Hereditary Endothelial Dystrophy Type I

MalaCards organs/tissues related to Congenital Hereditary Endothelial Dystrophy Type I:

41
Endothelial, Eye

Publications for Congenital Hereditary Endothelial Dystrophy Type I

Articles related to Congenital Hereditary Endothelial Dystrophy Type I:

# Title Authors Year
1
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. ( 10209448 )
1999

Variations for Congenital Hereditary Endothelial Dystrophy Type I

Expression for Congenital Hereditary Endothelial Dystrophy Type I

Search GEO for disease gene expression data for Congenital Hereditary Endothelial Dystrophy Type I.

Pathways for Congenital Hereditary Endothelial Dystrophy Type I

GO Terms for Congenital Hereditary Endothelial Dystrophy Type I

Sources for Congenital Hereditary Endothelial Dystrophy Type I

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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