MCID: RNG003
MIFTS: 23

Ring Dermoid of Cornea malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Ring Dermoid of Cornea

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ring Dermoid of Cornea:

Name: Ring Dermoid of Cornea 50 46 23 52 68 25 12 66
Ring Dermoid Syndrome 46 52
 
Rdc 46 68
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 46

Characteristics:

Orphanet epidemiological data:

52
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
ring dermoid of cornea:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 180550
Orphanet52 ORPHA91481
ICD10 via Orphanet29 D31.1
MESH via Orphanet38 C535684
UMLS via Orphanet67 C1867155
MedGen35 C1867155
MeSH37 D003884

Summaries for Ring Dermoid of Cornea

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UniProtKB/Swiss-Prot:68 Ring dermoid of cornea: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.

MalaCards based summary: Ring Dermoid of Cornea, also known as ring dermoid syndrome, is related to endogenous depression and melancholia, and has symptoms including abnormality of the cornea and abnormality of the conjunctiva. An important gene associated with Ring Dermoid of Cornea is PITX2 (Paired Like Homeodomain 2). Affiliated tissues include skin and eye.

Description from OMIM:50 180550

Related Diseases for Ring Dermoid of Cornea

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

idRelated DiseaseScoreTop Affiliating Genes
1endogenous depression10.2
2melancholia10.1
3muscle disorders9.9
4bruxism9.9
5amyloidosis9.9
6al amyloidosis9.9

Graphical network of diseases related to Ring Dermoid of Cornea:



Diseases related to ring dermoid of cornea

Symptoms for Ring Dermoid of Cornea

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Symptoms by clinical synopsis from OMIM:

180550

Clinical features from OMIM:

180550

HPO human phenotypes related to Ring Dermoid of Cornea:

id Description Frequency HPO Source Accession
1 abnormality of the cornea HP:0000481
2 abnormality of the conjunctiva HP:0000502

Drugs & Therapeutics for Ring Dermoid of Cornea

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ring Dermoid of Cornea

Genetic Tests for Ring Dermoid of Cornea

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Genetic tests related to Ring Dermoid of Cornea:

id Genetic test Affiliating Genes
1 Ring Dermoid of Cornea25 23 PITX2

Anatomical Context for Ring Dermoid of Cornea

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MalaCards organs/tissues related to Ring Dermoid of Cornea:

34
Skin, Eye

Animal Models for Ring Dermoid of Cornea or affiliated genes

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Publications for Ring Dermoid of Cornea

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Variations for Ring Dermoid of Cornea

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UniProtKB/Swiss-Prot genetic disease variations for Ring Dermoid of Cornea:

68
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg108HisVAR_035027rs104893862

Clinvar genetic disease variations for Ring Dermoid of Cornea:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PITX2NM_153427.2(PITX2): c.185G> A (p.Arg62His)single nucleotide variantPathogenicrs104893862GRCh37Chr 4, 111542387: 111542387

Expression for genes affiliated with Ring Dermoid of Cornea

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Search GEO for disease gene expression data for Ring Dermoid of Cornea.

Pathways for genes affiliated with Ring Dermoid of Cornea

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GO Terms for genes affiliated with Ring Dermoid of Cornea

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Sources for Ring Dermoid of Cornea

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet