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 57 59 29 13 6 40 73
Ktcnct 57 59
Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning Syndrome 57
Endothelial Dystrophy-Iris Hypoplasia-Congenital Cataract-Stromal Thinning Syndrome 59
Autosomal Dominant Keratoconus with Early-Onset Anterior Polar Cataracts 59
Keratoconus, Familial, with Early-Onset Anterior Polar Cataract 57
Familial Keratoconus with Cataract 59
Keratoconus with Cataract; Ktcnct 57
Keratoconus with Cataract 57
Edict 57

Characteristics:

Orphanet epidemiological data:

59
edict syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
edict syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


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)

MalaCards based summary : Edict Syndrome, also known as ktcnct, is related to asthma and cataract. An important gene associated with Edict Syndrome is MIR184 (MicroRNA 184). Affiliated tissues include endothelial and eye, and related phenotypes are microcornea and astigmatism

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 asthma 9.9
2 cataract 9.9
3 endotheliitis 9.9

Symptoms & Phenotypes for Edict Syndrome

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcornea 32 HP:0000482
2 astigmatism 32 HP:0000483
3 visual impairment 32 HP:0000505
4 congenital cataract 32 HP:0000519
5 keratoconus 32 occasional (7.5%) HP:0000563
6 reduced visual acuity 32 HP:0007663
7 hypoplasia of the iris 32 HP:0007676

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 29 MIR184

Anatomical Context for Edict Syndrome

MalaCards organs/tissues related to Edict Syndrome:

41
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
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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