MCID: RNG003
MIFTS: 24

Ring Dermoid of Cornea malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cancer diseases

Aliases & Classifications for Ring Dermoid of Cornea

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ring Dermoid of Cornea:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
ring dermoid of cornea:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 180550
Orphanet51 91481
ICD10 via Orphanet28 D31.1
MESH via Orphanet37 C535684
UMLS via Orphanet66 C1867155
MedGen34 C1867155
MeSH36 D003884
UMLS65 C1867155

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 hepatitis and asperger syndrome, and has symptoms including abnormality of the conjunctivaand abnormality of the cornea. 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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.2
2asperger syndrome10.2
3paraganglioma10.2
4cat-scratch disease10.2
5esophagitis10.2
6cystitis10.2
7trichomoniasis10.2
8kernicterus10.2
9neonatal jaundice10.2
10lymphopenia10.2
11learning disability10.2
12myotonic dystrophy10.2

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 conjunctiva HP:0000502
2 abnormality of the cornea HP:0000481

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 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