MCID: RNG003
MIFTS: 22

Ring Dermoid of Cornea

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Ring Dermoid of Cornea

MalaCards integrated aliases for Ring Dermoid of Cornea:

Name: Ring Dermoid of Cornea 54 50 24 56 71 29 13 69
Ring Dermoid Syndrome 50 56
Rdc 50 71
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 50

Characteristics:

Orphanet epidemiological data:

56
ring dermoid of cornea
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ring dermoid of cornea:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 180550
Orphanet 56 ORPHA91481
MESH via Orphanet 43 C535684
UMLS via Orphanet 70 C1867155
ICD10 via Orphanet 34 D31.1
MedGen 40 C1867155
MeSH 42 D003884
SNOMED-CT via HPO 65 263681008

Summaries for Ring Dermoid of Cornea

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 91481disease definitionring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. less than 30 cases have been described. transmission is autosomal dominant and mutations in the pitx2 gene have been suggested as a potential cause of the condition.visit the orphanet disease page for more resources. last updated: 4/11/2007

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 conjunctiva and 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.

UniProtKB/Swiss-Prot : 71 Ring dermoid of cornea: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.

Description from OMIM: 180550

Related Diseases for Ring Dermoid of Cornea

Diseases related to Ring Dermoid of Cornea via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 endogenous depression 10.1
2 melancholia 10.0
3 muscle disorders 9.7
4 bruxism 9.7
5 amyloidosis 9.7
6 al amyloidosis 9.7

Graphical network of the top 20 diseases related to Ring Dermoid of Cornea:



Diseases related to Ring Dermoid of Cornea

Symptoms & Phenotypes for Ring Dermoid of Cornea

Symptoms via clinical synopsis from OMIM:

54

Eyes:
annular limbal dermoids extending onto cornea and conjunctiva


Clinical features from OMIM:

180550

Human phenotypes related to Ring Dermoid of Cornea:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of the conjunctiva 32 HP:0000502
2 abnormality of the cornea 32 HP:0000481

Drugs & Therapeutics for Ring Dermoid of Cornea

Search Clinical Trials , NIH Clinical Center for Ring Dermoid of Cornea

Genetic Tests for Ring Dermoid of Cornea

Genetic tests related to Ring Dermoid of Cornea:

id Genetic test Affiliating Genes
1 Ring Dermoid of Cornea 29 24 PITX2

Anatomical Context for Ring Dermoid of Cornea

MalaCards organs/tissues related to Ring Dermoid of Cornea:

39
Skin, Eye

Publications for Ring Dermoid of Cornea

Variations for Ring Dermoid of Cornea

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

71
id Symbol AA change Variation ID SNP ID
1 PITX2 p.Arg108His VAR_035027 rs104893862

ClinVar genetic disease variations for Ring Dermoid of Cornea:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_153427.2(PITX2): c.185G> A (p.Arg62His) single nucleotide variant Pathogenic rs104893862 GRCh37 Chromosome 4, 111542387: 111542387

Expression for Ring Dermoid of Cornea

Search GEO for disease gene expression data for Ring Dermoid of Cornea.

Pathways for Ring Dermoid of Cornea

GO Terms for Ring Dermoid of Cornea

Sources for Ring Dermoid of Cornea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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