MCID: RNG003
MIFTS: 25

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 53 49 55 71 36 28 13 69
Rdc 53 49 71
Ring Dermoid Syndrome 49 55
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 49

Characteristics:

Orphanet epidemiological data:

55
ring dermoid of cornea
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ring dermoid of cornea:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 180550
Orphanet 55 ORPHA91481
MESH via Orphanet 42 C535684
UMLS via Orphanet 70 C1867155
ICD10 via Orphanet 33 D31.1
MedGen 39 C1867155
MeSH 41 D003884
KEGG 36 H01149
SNOMED-CT via HPO 65 263681008
UMLS 69 C1867155

Summaries for Ring Dermoid of Cornea

NIH Rare Diseases : 49 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 rdc, is related to endogenous depression and melancholia, and has symptoms including abnormality of the cornea and abnormality of the conjunctiva. An important gene associated with Ring Dermoid of Cornea is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways is TGF-beta signaling pathway. 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:

# Related Disease Score Top Affiliating Genes
1 endogenous depression 10.2
2 melancholia 10.1
3 tibial muscular dystrophy, tardive 10.0
4 episodic pain syndrome, familial, 1 9.8
5 muscle disorders 9.8
6 bruxism 9.8
7 amyloidosis 9.8
8 al amyloidosis 9.8

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:

53
Eyes:
annular limbal dermoids extending onto cornea and conjunctiva


Clinical features from OMIM:

180550

Human phenotypes related to Ring Dermoid of Cornea:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the cornea 31 HP:0000481
2 abnormality of the conjunctiva 31 HP:0000502

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:

# Genetic test Affiliating Genes
1 Ring Dermoid of Cornea 28 PITX2

Anatomical Context for Ring Dermoid of Cornea

MalaCards organs/tissues related to Ring Dermoid of Cornea:

38
Skin, Eye

Publications for Ring Dermoid of Cornea

Articles related to Ring Dermoid of Cornea:

(show all 12)
# Title Authors Year
1
Masticatory muscle disorders diagnostic criteria: the American Academy of Orofacial Pain versus the research diagnostic criteria/temporomandibular disorders (RDC/TMD). ( 22882635 )
2012
2
A phase 1/2 study of lenalidomide with low-dose oral cyclophosphamide and low-dose dexamethasone (RdC) in AL amyloidosis. ( 22517904 )
2012
3
Ensemble calculations of unstructured proteins constrained by RDC and PRE data: a case study of urea-denatured ubiquitin. ( 20000836 )
2010
4
High-resolution protein structure determination starting with a global fold calculated from exact solutions to the RDC equations. ( 19711185 )
2009
5
Prevalence of bruxism in patients with different research diagnostic criteria for temporomandibular disorders (RDC/TMD) diagnoses. ( 14620701 )
2003
6
[Expression of urokinase-type plasminogen activator (uPA) and uPA receptor (uPAR) plays a role in destruction of joint tissue in rapidly destructive coxarthropathy (RDC)]. ( 11729663 )
2001
7
[Expression of matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinases (TIMPs) in joint tissues of rapidly destructive coxarthropathy (RDC), analyzed by immunohistochemical study]. ( 9396371 )
1997
8
Specificity of symptoms in RDC endogenous depression. ( 2522123 )
1989
9
Sources of disagreement between clinical (ICD-9) and operational (RDC, DSM-III) diagnosis of endogenous depression (melancholia). ( 2951411 )
1986
10
Construct validity of the DSM-III and RDC classification of melancholia (endogenous depression). ( 3806424 )
1986
11
Diagnosing RDC endogenous depression and DSM-III melancholia. ( 6591222 )
1984
12
RDC endogenous depression as a predictor of response to antidepressant drugs and psychotherapy. ( 7090892 )
1982

Variations for Ring Dermoid of Cornea

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

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

ClinVar genetic disease variations for Ring Dermoid of Cornea:

6
# 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

Pathways related to Ring Dermoid of Cornea according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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