RDC
MCID: RNG003
MIFTS: 23

Ring Dermoid of Cornea (RDC) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Ring Dermoid of Cornea

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MalaCards based summary: Ring Dermoid of Cornea, also known as ring dermoid syndrome, is related to endogenous depression and melancholia, and has symptoms including An important gene associated with Ring Dermoid of Cornea is PITX2 (paired-like homeodomain 2). Affiliated tissues include eye.

Description from OMIM:46 180550

Aliases & Classifications for Ring Dermoid of Cornea

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ring Dermoid of Cornea, Aliases & Descriptions:

Name: Ring Dermoid of Cornea 42 20 22 46 48 62
Ring Dermoid Syndrome 42 48
 
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 42
Rdc 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 180550
MESH via Orphanet35 C535684
ICD10 via Orphanet26 D31.1
UMLS via Orphanet63 C1867155

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1endogenous depression10.4
2melancholia10.3
3muscle disorders10.0
4bruxism10.0
5amyloidosis10.0
6al amyloidosis10.0

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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Drug clinical trials:

Search ClinicalTrials for Ring Dermoid of Cornea

Search 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 Cornea20 22 PITX2

Anatomical Context for Ring Dermoid of Cornea

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MalaCards organs/tissues related to Ring Dermoid of Cornea:

32
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:

64
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg108HisVAR_035027

Clinvar genetic disease variations for Ring Dermoid of Cornea:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Ring Dermoid of Cornea

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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Compounds 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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Products for genes affiliated with Ring Dermoid of Cornea

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ring Dermoid of Cornea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet