MCID: DRM015
MIFTS: 15

Dermoids of Cornea malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Dermoids of Cornea

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Aliases & Descriptions for Dermoids of Cornea:

Name: Dermoids of Cornea 51 47 67
Corneal Dystrophy Epithelial-Short Stature Syndrome 53
Guízar Vázquez-Luengas-Muñoz Syndrome 53
 
X-Linked Corneal Dermoid 53
Cnd 47

Characteristics:

Orphanet epidemiological data:

53
corneal dystrophy epithelial-short stature syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
dermoids of cornea:
Inheritance: x-linked inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 304730
Orphanet53 ORPHA1661
ICD10 via Orphanet30 Q13.4

Summaries for Dermoids of Cornea

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MalaCards based summary: Dermoids of Cornea, also known as corneal dystrophy epithelial-short stature syndrome, is related to ring dermoid of cornea and thyroid cancer, and has symptoms including visual impairment, opacification of the corneal stroma and abnormality of the pupil. An important gene associated with Dermoids of Cornea is CND (Corneal Dermoids). Affiliated tissues include eye.

Description from OMIM:51 304730

Related Diseases for Dermoids of Cornea

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Diseases related to Dermoids of Cornea via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ring dermoid of cornea12.4
2thyroid cancer10.0
3thyroiditis10.0

Symptoms for Dermoids of Cornea

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Symptoms by clinical synopsis from OMIM:

304730

Clinical features from OMIM:

304730

Human phenotypes related to Dermoids of Cornea:

 63 53 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000505
2 opacification of the corneal stroma63 hallmark (90%) HP:0007759
3 abnormality of the pupil63 53 typical (50%) Frequent (79-30%) HP:0000615
4 abnormality of the eye63 HP:0000478
5 visual loss53 Occasional (29-5%)
6 corneal opacity53 Very frequent (99-80%)

Drugs & Therapeutics for Dermoids of Cornea

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dermoids of Cornea

Genetic Tests for Dermoids of Cornea

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Anatomical Context for Dermoids of Cornea

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MalaCards organs/tissues related to Dermoids of Cornea:

35
Eye

Animal Models for Dermoids of Cornea or affiliated genes

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Publications for Dermoids of Cornea

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Variations for Dermoids of Cornea

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Expression for genes affiliated with Dermoids of Cornea

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Search GEO for disease gene expression data for Dermoids of Cornea.

Pathways for genes affiliated with Dermoids of Cornea

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GO Terms for genes affiliated with Dermoids of Cornea

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Sources for Dermoids of Cornea

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet