MCID: EDC001
MIFTS: 24

Edict Syndrome

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Edict Syndrome

MalaCards integrated aliases for Edict Syndrome:

Name: Edict Syndrome 53 55 28 13 69
Ktcnct 53 55
Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning Syndrome 53
Endothelial Dystrophy-Iris Hypoplasia-Congenital Cataract-Stromal Thinning Syndrome 55
Autosomal Dominant Keratoconus with Early-Onset Anterior Polar Cataracts 55
Keratoconus, Familial, with Early-Onset Anterior Polar Cataract 53
Familial Keratoconus with Cataract 55
Keratoconus with Cataract; Ktcnct 53
Keratoconus with Cataract 53
Edict 53

Characteristics:

Orphanet epidemiological data:

55
edict syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
edict syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


Summaries for Edict Syndrome

OMIM : 53 EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma (Iliff et al., 2012). Syndromes with overlapping features have been reported, including cornea guttata with anterior polar cataracts (121390) and congenital corneal opacities, cornea guttata, and corectopia (608484). (614303)

MalaCards based summary : Edict Syndrome, also known as ktcnct, is related to cataract and endotheliitis, and has symptoms including visual impairment, reduced visual acuity and hypoplasia of the iris. An important gene associated with Edict Syndrome is MIR184 (MicroRNA 184). Affiliated tissues include endothelial and eye.

Related Diseases for Edict Syndrome

Diseases related to Edict Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 9.9
2 endotheliitis 9.9

Symptoms & Phenotypes for Edict Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
corneal thinning and steepening
keratoconus, severe anterior (in some patients)
microcornea
astigmatism
decreased visual acuity
more

Clinical features from OMIM:

614303

Human phenotypes related to Edict Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 reduced visual acuity 31 HP:0007663
3 hypoplasia of the iris 31 HP:0007676
4 microcornea 31 HP:0000482
5 keratoconus 31 occasional (7.5%) HP:0000563
6 astigmatism 31 HP:0000483
7 congenital cataract 31 HP:0000519

Drugs & Therapeutics for Edict Syndrome

Search Clinical Trials , NIH Clinical Center for Edict Syndrome

Genetic Tests for Edict Syndrome

Genetic tests related to Edict Syndrome:

# Genetic test Affiliating Genes
1 Edict Syndrome 28 MIR184

Anatomical Context for Edict Syndrome

MalaCards organs/tissues related to Edict Syndrome:

38
Endothelial, Eye

Publications for Edict Syndrome

Articles related to Edict Syndrome:

# Title Authors Year
1
A single-base substitution in the seed region of miR-184 causes EDICT syndrome. ( 22131394 )
2012
2
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. ( 12140022 )
2002

Variations for Edict Syndrome

ClinVar genetic disease variations for Edict Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MIR184 MIR184, 57C-T single nucleotide variant Pathogenic

Expression for Edict Syndrome

Search GEO for disease gene expression data for Edict Syndrome.

Pathways for Edict Syndrome

GO Terms for Edict Syndrome

Sources for Edict Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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