RDC
MCID: RNG003
MIFTS: 31

Ring Dermoid of Cornea (RDC)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ring Dermoid of Cornea

MalaCards integrated aliases for Ring Dermoid of Cornea:

Name: Ring Dermoid of Cornea 57 53 59 75 37 29 13 6 73
Rdc 57 53 75
Ring Dermoid Syndrome 53 59
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 53
Dermoid of Cornea, Ring 40

Characteristics:

Orphanet epidemiological data:

59
ring dermoid of cornea
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ring dermoid of cornea:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 180550
Orphanet 59 ORPHA91481
MESH via Orphanet 45 C535684
UMLS via Orphanet 74 C1867155
ICD10 via Orphanet 34 D31.1
MedGen 42 C1867155
MeSH 44 D003884
KEGG 37 H01149
SNOMED-CT via HPO 69 263681008 387742006
UMLS 73 C1867155

Summaries for Ring Dermoid of Cornea

NIH Rare Diseases : 53 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.

MalaCards based summary : Ring Dermoid of Cornea, also known as rdc, is related to depression and endogenous depression. 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, eye and testes, and related phenotypes are amblyopia and abnormal conjunctiva morphology

UniProtKB/Swiss-Prot : 75 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 depression 10.4
2 endogenous depression 10.3
3 anxiety 10.2
4 melancholia 10.2
5 schizoaffective disorder 10.1
6 premature chromatid separation trait 9.9
7 major depressive disorder 9.9
8 bipolar disorder 9.9
9 muscle disorders 9.9
10 osteoarthritis 9.9
11 generalized anxiety disorder 9.9
12 epilepsy 9.9
13 psychotic disorder 9.9
14 bruxism 9.9
15 amyloidosis 9.9
16 al amyloidosis 9.9

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:

57
Eyes:
annular limbal dermoids extending onto cornea and conjunctiva


Clinical features from OMIM:

180550

Human phenotypes related to Ring Dermoid of Cornea:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 amblyopia 32 HP:0000646
2 abnormal conjunctiva morphology 32 HP:0000502
3 abnormal cornea morphology 32 HP:0000481
4 abnormality of the corneal limbus 32 HP:0025348
5 corneal astigmatism 32 HP:0025612
6 conjunctival dermolipoma 32 HP:0500070

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 29 PITX2

Anatomical Context for Ring Dermoid of Cornea

MalaCards organs/tissues related to Ring Dermoid of Cornea:

41
Skin, Eye, Testes, Brain, Thyroid, T Cells

Publications for Ring Dermoid of Cornea

Articles related to Ring Dermoid of Cornea:

(show top 50) (show all 107)
# Title Authors Year
1
Frequency of temporomandibular disorders diagnoses based on RDC/TMD in a Polish patient population. ( 28792365 )
2018
2
Registry Data Coordinator (RDC): a Proper Accessible Strategy for Improving Road Traffic Injury (RTI) Hospital Based Trauma Registry Systems in Developing Countries and Low Income Countries. ( 29719311 )
2018
3
Anxiety and malocclusion are associated with temporomandibular disorders in adolescents diagnosed by RDC/TMD. A cross-sectional study. ( 29972708 )
2018
4
RDC-enhanced structure calculation of a β-heptapeptide in methanol. ( 27976817 )
2017
5
Conformational Analysis of an Antibacterial Cyclodepsipeptide Active against Mycobacterium tuberculosis by a Combined ROE and RDC Analysis. ( 28106929 )
2017
6
Integrating NOE and RDC using sum-of-squares relaxation for protein structure determination. ( 28616711 )
2017
7
Comparing Axis II Scores According to the RDC/TMD and DC/TMD in Israeli Patients. ( 29019477 )
2017
8
Need for surgical treatment of epilepsy and excision of tumors and post-traumatic epileptogenic lesions in Kinshasa, RDC. ( 29313510 )
2017
9
Next steps in development of the diagnostic criteria for temporomandibular disorders (DC/TMD): Recommendations from the International RDC/TMD Consortium Network workshop. ( 26727166 )
2016
10
The Use of a Combination of RDC and Chiroptical Spectroscopy for Determination of the Absolute Configuration of Fusariumin A from the Fungus Fusarium sp. ( 26791752 )
2016
11
The incidence of osteoarthritic change on computed tomography of Korean temporomandibular disorder patients diagnosed by RDC/TMD; a retrospective study. ( 26881919 )
2016
12
Comment on "Conformational analysis of small organic molecules using NOE and RDC data: A discussion of strychnine and α-methylene-γ-butyrolactone". ( 26924224 )
2016
13
Response to "Comment on "Conformational analysis of small organic molecules using NOE and RDC data: A discussion of strychnine and α-methylene-γ-butyrolactone" by I.A. Khodov, M.G. Kiselev, V.V. Klochkov, S.V. Efimov [http://dx.doi.org/10.1016/j.jmr.2016.02.009]" - Or Life is about compromises. ( 26947752 )
2016
14
Impulsivity predicts the onset of DSM-IV-TR or RDC hypomanic and manic episodes in adolescents and young adults with high or moderate reward sensitivity. ( 27011364 )
2016
15
Efficacy of stabilisation splint therapy combined with non-splint multimodal therapy for treating RDC/TMD axis I patients: a randomised controlled trial. ( 26174571 )
2015
16
Application of RDC enhanced NMR spectroscopy in structural analysis of thiacalix[4]arene derivatives. ( 26257213 )
2015
17
Conformational analysis of small organic molecules using NOE and RDC data: A discussion of strychnine and α-methylene-γ-butyrolactone. ( 26556179 )
2015
18
ORIUM: optimized RDC-based Iterative and Unified Model-free analysis. ( 24013952 )
2014
19
Homonuclear decoupling for enhancing resolution and sensitivity in NOE and RDC measurements of peptides and proteins. ( 24360766 )
2014
20
Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Group†. ( 24482784 )
2014
21
The journey from RDC/DSM diagnoses toward RDoC dimensions. ( 24497246 )
2014
22
Myorelaxant effect of bee venom topical skin application in patients with RDC/TMD Ia and RDC/TMD Ib: a randomized, double blinded study. ( 25050337 )
2014
23
The structure of cyclolinopeptide A in chloroform refined by RDC measurements. ( 25111589 )
2014
24
Prevalence and correlation between TMD based on RDC/TMD diagnoses, oral parafunctions and psychoemotional stress in Polish university students. ( 25121100 )
2014
25
RDC-based determination of the relative configuration of the fungicidal cyclopentenone 4,6-diacetylhygrophorone A12.. ( 23659349 )
2013
26
Correlation between clinical diagnosis based on RDC/TMD and MRI findings of TMJ internal derangement. ( 22000957 )
2012
27
Influence of solvent and salt concentration on the alignment properties of acrylamide copolymer gels for the measurement of RDC. ( 23280658 )
2012
28
MSpin-RDC. A program for the use of residual dipolar couplings for structure elucidation of small molecules. ( 23280663 )
2012
29
New strategy for RDC-assisted diastereotopic proton assignment using a combination of J-scaled BIRD HSQC and J-scaled BIRD HMQC/HSQC. ( 23280665 )
2012
30
Cys-Ph-TAHA: a lanthanide binding tag for RDC and PCS enhanced protein NMR. ( 21892794 )
2011
31
Correlation of RDC/TMD axis I diagnoses and axis II pain-related disability. A multicenter study. ( 20628773 )
2011
32
Arginine kinase: joint crystallographic and NMR RDC analyses link substrate-associated motions to intrinsic flexibility. ( 21075117 )
2011
33
RDC derived protein backbone resonance assignment using fragment assembly. ( 21191805 )
2011
34
Protein side-chain resonance assignment and NOE assignment using RDC-defined backbones without TOCSY data. ( 21706248 )
2011
35
Urdu translation of the ICD-10 chapter V (F), research diagnostic criteria (RDC): process and principles of translation. ( 21911512 )
2011
36
Classifying degenerative joint disease by the RDC/TMD and by panoramic imaging: a retrospective analysis. ( 20002532 )
2010
37
Age peaks of different RDC/TMD diagnoses in a patient population. ( 20100537 )
2010
38
Some remarks on the RDC/TMD Validation Project: report of an IADR/Toronto-2008 workshop discussion. ( 20374440 )
2010
39
What you can and cannot see in TMJ imaging--an overview related to the RDC/TMD diagnostic system. ( 20492436 )
2010
40
Psychosocial impairment in temporomandibular disorders patients. RDC/TMD axis II findings from a multicentre study. ( 20600559 )
2010
41
Reliability and validity of Axis I of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) with proposed revisions. ( 20663019 )
2010
42
Assessment and further development of RDC/TMD Axis II biobehavioural instruments: a research programme progress report. ( 20701668 )
2010
43
Validation of the multimedia version of the RDC/TMD axis II questionnaire in Portuguese. ( 20856999 )
2010
44
The RDC/TMD Validation Project: an important or a final step towards a revised version of the RDc/TMD? ( 20862808 )
2010
45
The revised RDC/TMD for myofascial pain with limited opening: what should it mean to us? ( 20862809 )
2010
46
Moving forward with the RDC/TMD. ( 20887276 )
2010
47
IMMPACT recommendations for clinical trials: opportunities for the RDC/TMD. ( 20887278 )
2010
48
Prevalence of signs and symptoms of temporomandibular disorders in children in the State of Puebla, Mexico, evaluated with the research diagnostic criteria for temporomandibular disorders (RDC/TMD). ( 21638964 )
2010
49
A retrospective analysis of temporomandibular findings among Israeli-born patients based on the RDC/TMD. ( 18976270 )
2009
50
Clinical value of 12 occlusal features for the prediction of disc displacement with reduction (RDC/TMD Axis I group IIa). ( 19382297 )
2009

Variations for Ring Dermoid of Cornea

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

75
# Symbol AA change Variation ID SNP ID
1 PITX2 p.Arg108His VAR_035027 rs104893862

ClinVar genetic disease variations for Ring Dermoid of Cornea:

6 (show all 38)
# 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
2 PITX2 NM_153427.2(PITX2): c.185G> A (p.Arg62His) single nucleotide variant Pathogenic rs104893862 GRCh38 Chromosome 4, 110621231: 110621231
3 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
4 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
5 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
6 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
7 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
8 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
9 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
10 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
11 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh37 Chromosome 4, 111539617: 111539617
12 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh38 Chromosome 4, 110618461: 110618461
13 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
14 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh38 Chromosome 4, 110617553: 110617553
15 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
16 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
17 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
18 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
19 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
20 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
21 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
22 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
23 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
24 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
25 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh38 Chromosome 4, 110617514: 110617514
26 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh37 Chromosome 4, 111538670: 111538670
27 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
28 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh38 Chromosome 4, 110617603: 110617603
29 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
30 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
31 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
32 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
33 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
34 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
35 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
36 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
37 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
38 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351

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:

37
# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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