MCID: RNG003
MIFTS: 25

Ring Dermoid of Cornea malady

Genetic diseases, Rare diseases, Eye diseases, Cancer diseases categories

Aliases & Classifications for Ring Dermoid of Cornea

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Ring Dermoid of Cornea:

Name: Ring Dermoid of Cornea 49 11 45 22 51 24 65 67
Ring Dermoid Syndrome 45 51
 
Rdc 45 67
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 180550
Orphanet51 91481
ICD10 via Orphanet28 D31.1
MESH via Orphanet37 C535684
UMLS via Orphanet66 C1867155
MedGen34 C1867155
MeSH36 D003884

Summaries for Ring Dermoid of Cornea

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UniProtKB/Swiss-Prot:67 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 autosomal dominant inheritance, 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:49 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 depression10.4
2melancholia10.3
3muscle disorders10.2
4bruxism10.1
5pain disorder10.1
6amyloidosis10.1
7muscle tissue disease10.1
8myopathy10.1
9neuromuscular disease10.1
10al amyloidosis10.1

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 autosomal dominant inheritance HP:0000006
2 abnormality of the cornea HP:0000481
3 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 Cornea22 24 PITX2

Anatomical Context for Ring Dermoid of Cornea

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MalaCards organs/tissues related to Ring Dermoid of Cornea:

33
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:

67
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg108HisVAR_035027

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet