MCID: EDC001
MIFTS: 26

Edict Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Edict Syndrome

Aliases & Descriptions for Edict Syndrome:

Name: Edict Syndrome 54 24 56 29 13 69
Ktcnct 24 56
Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract and Stromal Thinning Syndrome 24
Endothelial Dystrophy-Iris Hypoplasia-Congenital Cataract-Stromal Thinning Syndrome 56
Autosomal Dominant Keratoconus with Early-Onset Anterior Polar Cataracts 56
Keratoconus, Familial, with Early-Onset Anterior Polar Cataract Edict 24
Familial Keratoconus with Cataract 56
Keratoconus with Cataract 24
Horn Kolb Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
edict syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
edict syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 614303
Orphanet 56 ORPHA293936

Summaries for Edict Syndrome

OMIM : 54 EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy,... (614303) more...

MalaCards based summary : Edict Syndrome, also known as ktcnct, is related to acheiropody and corneal dystrophy, fuchs endothelial, 8, 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). The drugs Adenosine and Menthol have been mentioned in the context of this disorder. 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:

id Related Disease Score Top Affiliating Genes
1 acheiropody 11.7
2 corneal dystrophy, fuchs endothelial, 8 9.8 LMBR1 MIR184
3 cataract 9.8
4 iris hypoplasia 9.8
5 endotheliitis 9.8

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



Diseases related to Edict Syndrome

Symptoms & Phenotypes for Edict Syndrome

Symptoms by clinical synopsis from OMIM:

614303

Clinical features from OMIM:

614303

Human phenotypes related to Edict Syndrome:

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

Drugs & Therapeutics for Edict Syndrome

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2
Menthol Approved 2216-51-5 16666
3 Analgesics
4 Neurotransmitter Agents
5 Peripheral Nervous System Agents
6 Vasodilator Agents
7 Anti-Arrhythmia Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994

Search NIH Clinical Center for Edict Syndrome

Genetic Tests for Edict Syndrome

Genetic tests related to Edict Syndrome:

id Genetic test Affiliating Genes
1 Edict Syndrome 29 24 MIR184

Anatomical Context for Edict Syndrome

MalaCards organs/tissues related to Edict Syndrome:

39
Endothelial, Eye

Publications for Edict Syndrome

Articles related to Edict Syndrome:

id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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