EDICT
MCID: EDC001
MIFTS: 28

Edict Syndrome (EDICT)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Edict Syndrome

MalaCards integrated aliases for Edict Syndrome:

Name: Edict Syndrome 57 58 36 29 13 6 39 70
Ktcnct 57 58
Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning Syndrome 57
Endothelial Dystrophy-Iris Hypoplasia-Congenital Cataract-Stromal Thinning Syndrome 58
Autosomal Dominant Keratoconus with Early-Onset Anterior Polar Cataracts 58
Keratoconus, Familial, with Early-Onset Anterior Polar Cataract 57
Familial Keratoconus with Cataract 58
Keratoconus with Cataract; Ktcnct 57
Keratoconus with Cataract 57
Edict 57

Characteristics:

Orphanet epidemiological data:

58
edict syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
edict syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 614303
KEGG 36 H02426
Orphanet 58 ORPHA293936
MedGen 41 C3280392
UMLS 70 C3280392

Summaries for Edict Syndrome

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Edict Syndrome, also known as ktcnct, is related to keratoconus and anterior segment dysgenesis. An important gene associated with Edict Syndrome is MIR184 (MicroRNA 184). The drugs Adenosine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related phenotypes are keratoconus and hypoplasia of the iris

KEGG : 36 EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution in the seed region of miR-184 causes EDICT syndrome.

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 10.3
2 anterior segment dysgenesis 10.1
3 corneal endothelial dystrophy 10.0
4 cataract 10.0
5 keratoconus 1 10.0
6 astigmatism 10.0
7 early-onset anterior polar cataract 10.0
8 type 2 diabetes mellitus 9.9
9 arts syndrome 9.9
10 hypoglycemia 9.9

Graphical network of the top 20 diseases related to Edict Syndrome:



Diseases related to Edict Syndrome

Symptoms & Phenotypes for Edict Syndrome

Human phenotypes related to Edict Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Edict Syndrome

Drugs for Edict Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Neurotransmitter Agents
3 Anti-Arrhythmia Agents
4 Vasodilator Agents
5 Analgesics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994

Search NIH Clinical Center for Edict Syndrome

Genetic Tests for Edict Syndrome

Genetic tests related to Edict Syndrome:

# Genetic test Affiliating Genes
1 Edict Syndrome 29 MIR184

Anatomical Context for Edict Syndrome

MalaCards organs/tissues related to Edict Syndrome:

40
Endothelial, Eye

Publications for Edict Syndrome

Articles related to Edict Syndrome:

# Title Authors PMID Year
1
A single-base substitution in the seed region of miR-184 causes EDICT syndrome. 61 6 57
22131394 2012
2
Mutation altering the miR-184 seed region causes familial keratoconus with cataract. 6 57
21996275 2011
3
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. 6 57
14638698 2003
4
Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis. 57 6
11874753 2002
5
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. 61 57
12140022 2002
6
Documenting the corneal phenotype associated with the MIR184 c.57C>T mutation. 57
22560093 2012
7
Corneal thinning phenotypes: an alternative perspective. 57
22371433 2012
8
Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis. 57
16735990 2006
9
Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus. 61
26845316 2016
10
Mutational analysis of MIR184 in sporadic keratoconus and myopia. 61
23833072 2013

Variations for Edict Syndrome

ClinVar genetic disease variations for Edict Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIR184 MIR184, 57C-T SNV Pathogenic 31007 GRCh37:
GRCh38:

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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