MCID: RNG003
MIFTS: 21

Ring Dermoid of Cornea malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Ring Dermoid of Cornea

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ring Dermoid of Cornea:

Name: Ring Dermoid of Cornea 51 47 24 53 69 26 12 67
Ring Dermoid Syndrome 47 53
 
Rdc 47 69
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 47

Characteristics:

Orphanet epidemiological data:

53
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
ring dermoid of cornea:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 180550
Orphanet53 ORPHA91481
MESH via Orphanet39 C535684
UMLS via Orphanet68 C1867155
ICD10 via Orphanet30 D31.1
MedGen36 C1867155
MeSH38 D003884

Summaries for Ring Dermoid of Cornea

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UniProtKB/Swiss-Prot:69 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 melancholia and muscle disorders, 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:51 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
1melancholia10.0
2muscle disorders9.8
3bruxism9.8
4amyloidosis9.8
5al amyloidosis9.8

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

Human phenotypes related to Ring Dermoid of Cornea:

 63
id Description HPO Frequency HPO Source Accession
1 abnormality of the cornea63 HP:0000481
2 abnormality of the conjunctiva63 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 Cornea26 24 PITX2

Anatomical Context for Ring Dermoid of Cornea

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MalaCards organs/tissues related to Ring Dermoid of Cornea:

35
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:

69
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.*454C> TSNVPathogenicrs6533526GRCh38Chr 4, 110617671: 110617671
2PITX2NM_153427.2(PITX2): c.185G> A (p.Arg62His)SNVPathogenicrs104893862GRCh37Chr 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
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