EDICT
MCID: EDC001
MIFTS: 24

Edict Syndrome (EDICT)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Edict Syndrome

MalaCards integrated aliases for Edict Syndrome:

Name: Edict Syndrome 58 60 30 13 6 41 74
Ktcnct 58 60
Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning Syndrome 58
Endothelial Dystrophy-Iris Hypoplasia-Congenital Cataract-Stromal Thinning Syndrome 60
Autosomal Dominant Keratoconus with Early-Onset Anterior Polar Cataracts 60
Keratoconus, Familial, with Early-Onset Anterior Polar Cataract 58
Familial Keratoconus with Cataract 60
Keratoconus with Cataract; Ktcnct 58
Keratoconus with Cataract 58
Edict 58

Characteristics:

Orphanet epidemiological data:

60
edict syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
edict syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 614303
Orphanet 60 ORPHA293936
MedGen 43 C3280392
UMLS 74 C3280392

Summaries for Edict Syndrome

OMIM : 58 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 keratoconus and asthma. An important gene associated with Edict Syndrome is MIR184 (MicroRNA 184). Affiliated tissues include endothelial and eye, and related phenotypes are keratoconus and reduced visual acuity

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 keratoconus 10.2
2 asthma 10.1
3 cataract 10.1
4 astigmatism 9.9

Symptoms & Phenotypes for Edict Syndrome

Human phenotypes related to Edict Syndrome:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 keratoconus 33 occasional (7.5%) HP:0000563
2 reduced visual acuity 33 HP:0007663
3 hypoplasia of the iris 33 HP:0007676
4 microcornea 33 HP:0000482
5 astigmatism 33 HP:0000483
6 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
microcornea
astigmatism
decreased visual acuity
corneal thinning and steepening
keratoconus, severe anterior (in some patients)
more

Clinical features from OMIM:

614303

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 30 MIR184

Anatomical Context for Edict Syndrome

MalaCards organs/tissues related to Edict Syndrome:

42
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
Mutation altering the miR-184 seed region causes familial keratoconus with cataract. ( 21996275 )
2011
3
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. ( 14638698 )
2003
4
Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis. ( 11874753 )
2002
5
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
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....