RDC
MCID: RNG003
MIFTS: 22

Ring Dermoid of Cornea (RDC) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Ring Dermoid of Cornea

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

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

Description from OMIM:48 180550

Aliases & Classifications for Ring Dermoid of Cornea

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ring dermoid of cornea 44 21 23 48 50 63
ring dermoid syndrome 44 50
bilateral, annular limbal dermoids with corneal and conjunctival extension 44
rdc 44


External Ids:

OMIM48 180550
MESH via Orphanet37 C535684
ICD10 via Orphanet27 D31.1
UMLS via Orphanet64 C1867155

Related Diseases for Ring Dermoid of Cornea

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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
3bruxism10.0
4amyloidosis10.0
5al 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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

180550

Clinical features from OMIM:

180550

Drugs & Therapeutics for Ring Dermoid of Cornea

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Ring Dermoid of Cornea

Drug clinical trials:

Search ClinicalTrials for Ring Dermoid of Cornea

Search NIH Clinical Center for Ring Dermoid of Cornea

Search CenterWatch for Ring Dermoid of Cornea

Genetic Tests for Ring Dermoid of Cornea

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Ring Dermoid of Cornea:

id Genetic test Affiliating Genes
1 Ring Dermoid of Cornea21 23 PITX2

Anatomical Context for Ring Dermoid of Cornea

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Ring Dermoid of Cornea:

34
Eye

Animal Models for Ring Dermoid of Cornea or affiliated genes

About this section

Publications for Ring Dermoid of Cornea

About this section

Variations for Ring Dermoid of Cornea

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Ring Dermoid of Cornea:

65
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg108HisVAR_035027

Clinvar genetic disease variations for Ring Dermoid of Cornea:

1
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Ring Dermoid of Cornea

About this section

GO Terms for genes affiliated with Ring Dermoid of Cornea

About this section

Products for genes affiliated with Ring Dermoid of Cornea

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Dermoid of Cornea

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet