RDC
MCID: RNG003
MIFTS: 22

Ring Dermoid of Cornea (RDC) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Ring Dermoid of Cornea

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ring Dermoid of Cornea:

Name: Ring Dermoid of Cornea 52 48 24 54 70 27 12 68
Ring Dermoid Syndrome 48 54
 
Rdc 48 70
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 48

Characteristics:

Orphanet epidemiological data:

54
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
ring dermoid of cornea:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 180550
Orphanet54 ORPHA91481
MESH via Orphanet40 C535684
UMLS via Orphanet69 C1867155
ICD10 via Orphanet31 D31.1
MedGen37 C1867155
MeSH39 D003884

Summaries for Ring Dermoid of Cornea

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UniProtKB/Swiss-Prot:70 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:52 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 depression10.1
2melancholia10.0
3muscle disorders9.7
4bruxism9.7
5amyloidosis9.7
6al amyloidosis9.7

Graphical network of diseases related to Ring Dermoid of Cornea:



Diseases related to ring dermoid of cornea

Symptoms & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the cornea64 HP:0000481
2 abnormality of the conjunctiva64 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 Cornea27 24 PITX2

Anatomical Context for Ring Dermoid of Cornea

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MalaCards organs/tissues related to Ring Dermoid of Cornea:

36
Skin, Eye

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:

70
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)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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet