RDC
MCID: RNG003
MIFTS: 36

Ring Dermoid of Cornea (RDC)

Categories: Eye diseases, Genetic diseases, Neuronal 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 12 20 58 72 36 29 13 6 44 15 70
Rdc 57 12 20 72
Ring Dermoid Syndrome 12 20 58
Bilateral, Annular Limbal Dermoids with Corneal and Conjunctival Extension 20
Dermoid of Cornea, Ring 39

Characteristics:

Orphanet epidemiological data:

58
ring dermoid of cornea
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ring dermoid of cornea:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111548
OMIM® 57 180550
KEGG 36 H01149
SNOMED-CT 67 723499000
MESH via Orphanet 45 C535684
ICD10 via Orphanet 33 D31.1
UMLS via Orphanet 71 C1867155
Orphanet 58 ORPHA91481
MedGen 41 C1867155
SNOMED-CT via HPO 68 263681008 387742006
UMLS 70 C1867155

Summaries for Ring Dermoid of Cornea

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91481 Definition Ring 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.

MalaCards based summary : Ring Dermoid of Cornea, also known as rdc, is related to major depressive disorder and mental depression. An important gene associated with Ring Dermoid of Cornea is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are TGF-beta signaling pathway and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include eye and pituitary, and related phenotypes are amblyopia and abnormal cornea morphology

Disease Ontology : 12 A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has material basis in heterozygous mutation in PITX2 on chromosome 4q25.

OMIM® : 57 Ring dermoid of cornea (RDC) is an autosomal dominant condition characterized by bilateral annular limbal dermoids with corneal and conjunctival extension (summary by Xia et al., 2004). (180550) (Updated 05-Apr-2021)

KEGG : 36 The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary.

UniProtKB/Swiss-Prot : 72 Ring dermoid of cornea: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.

Related Diseases for Ring Dermoid of Cornea

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

Human phenotypes related to Ring Dermoid of Cornea:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 amblyopia 31 HP:0000646
2 abnormal cornea morphology 31 HP:0000481
3 abnormal conjunctiva morphology 31 HP:0000502
4 abnormality of the corneal limbus 31 HP:0025348
5 corneal astigmatism 31 HP:0025612
6 conjunctival dermolipoma 31 HP:0500070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
annular limbal dermoids extending onto cornea and conjunctiva

Clinical features from OMIM®:

180550 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ring Dermoid of Cornea

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

Cochrane evidence based reviews: 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:

40
Eye, Pituitary

Publications for Ring Dermoid of Cornea

Articles related to Ring Dermoid of Cornea:

# Title Authors PMID Year
1
Mutation in PITX2 is associated with ring dermoid of the cornea. 57 6
15591271 2004
2
Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension. 57 61
7387508 1980

Variations for Ring Dermoid of Cornea

ClinVar genetic disease variations for Ring Dermoid of Cornea:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX2 NM_000325.6(PITX2):c.344G>A (p.Arg115His) SNV Pathogenic 8094 rs104893862 GRCh37: 4:111542387-111542387
GRCh38: 4:110621231-110621231
2 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1] Microsatellite Uncertain significance 347292 rs886059004 GRCh37: 4:111538903-111538905
GRCh38: 4:110617747-110617749
3 PITX2 NM_000325.6(PITX2):c.412-11del Deletion Uncertain significance 347299 rs886059007 GRCh37: 4:111539855-111539855
GRCh38: 4:110618699-110618699
4 PITX2 NM_000325.6(PITX2):c.*176A>T SNV Uncertain significance 347296 rs567517676 GRCh37: 4:111539105-111539105
GRCh38: 4:110617949-110617949
5 PITX2 NM_000325.6(PITX2):c.*370G>C SNV Uncertain significance 347293 rs886059005 GRCh37: 4:111538911-111538911
GRCh38: 4:110617755-110617755
6 PITX2 NM_000325.6(PITX2):c.*119T>A SNV Uncertain significance 347297 rs765040142 GRCh37: 4:111539162-111539162
GRCh38: 4:110618006-110618006
7 PITX2 NM_000325.6(PITX2):c.412-7C>T SNV Uncertain significance 899414 GRCh37: 4:111539851-111539851
GRCh38: 4:110618695-110618695
8 PITX2 NM_153427.2(PITX2):c.-53G>A SNV Uncertain significance 899458 GRCh37: 4:111557979-111557979
GRCh38: 4:110636823-110636823
9 PITX2 NM_153427.2(PITX2):c.-270A>G SNV Uncertain significance 899520 GRCh37: 4:111558196-111558196
GRCh38: 4:110637040-110637040
10 PITX2 NM_153427.2(PITX2):c.-429C>G SNV Uncertain significance 899596 GRCh37: 4:111558355-111558355
GRCh38: 4:110637199-110637199
11 PITX2 NM_153427.2(PITX2):c.-501T>G SNV Uncertain significance 899665 GRCh37: 4:111558427-111558427
GRCh38: 4:110637271-110637271
12 PITX2 NM_153427.2(PITX2):c.-920C>T SNV Uncertain significance 899730 GRCh37: 4:111558846-111558846
GRCh38: 4:110637690-110637690
13 PITX2 NM_153427.2(PITX2):c.-1078C>A SNV Uncertain significance 899796 GRCh37: 4:111559004-111559004
GRCh38: 4:110637848-110637848
14 PITX2 NM_153427.2(PITX2):c.-1421G>C SNV Uncertain significance 899913 GRCh37: 4:111563111-111563111
GRCh38: 4:110641955-110641955
15 PITX2 NM_153427.2(PITX2):c.-1422C>A SNV Uncertain significance 899914 GRCh37: 4:111563112-111563112
GRCh38: 4:110641956-110641956
16 PITX2 NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) SNV Uncertain significance 900415 GRCh37: 4:111539561-111539561
GRCh38: 4:110618405-110618405
17 PITX2 NM_000325.6(PITX2):c.282G>T (p.Arg94=) SNV Uncertain significance 900537 GRCh37: 4:111542449-111542449
GRCh38: 4:110621293-110621293
18 PITX2 NM_000325.6(PITX2):c.*522T>C SNV Uncertain significance 347290 rs188349821 GRCh37: 4:111538759-111538759
GRCh38: 4:110617603-110617603
19 PITX2 NM_000325.6(PITX2):c.*611A>G SNV Uncertain significance 347288 rs886059002 GRCh37: 4:111538670-111538670
GRCh38: 4:110617514-110617514
20 PITX2 NM_000325.6(PITX2):c.*572T>C SNV Uncertain significance 347289 rs886059003 GRCh37: 4:111538709-111538709
GRCh38: 4:110617553-110617553
21 PITX2 NM_153427.2(PITX2):c.-300A>T SNV Uncertain significance 900657 GRCh37: 4:111558226-111558226
GRCh38: 4:110637070-110637070
22 PITX2 NM_153427.2(PITX2):c.-436G>C SNV Uncertain significance 899597 GRCh37: 4:111558362-111558362
GRCh38: 4:110637206-110637206
23 PITX2 NM_153427.2(PITX2):c.-483C>T SNV Uncertain significance 900734 GRCh37: 4:111558409-111558409
GRCh38: 4:110637253-110637253
24 PITX2 NM_153427.2(PITX2):c.-515C>T SNV Uncertain significance 899666 GRCh37: 4:111558441-111558441
GRCh38: 4:110637285-110637285
25 PITX2 NM_153427.2(PITX2):c.-670C>T SNV Uncertain significance 900813 GRCh37: 4:111558596-111558596
GRCh38: 4:110637440-110637440
26 PITX2 NM_153427.2(PITX2):c.-966A>G SNV Uncertain significance 899731 GRCh37: 4:111558892-111558892
GRCh38: 4:110637736-110637736
27 PITX2 NM_000325.6(PITX2):c.*264A>C SNV Uncertain significance 347295 rs886059006 GRCh37: 4:111539017-111539017
GRCh38: 4:110617861-110617861
28 PITX2 NM_153427.2(PITX2):c.-1092G>A SNV Uncertain significance 899797 GRCh37: 4:111559018-111559018
GRCh38: 4:110637862-110637862
29 PITX2 NM_000325.6(PITX2):c.*696A>C SNV Uncertain significance 901346 GRCh37: 4:111538585-111538585
GRCh38: 4:110617429-110617429
30 PITX2 NM_000325.6(PITX2):c.*107A>C SNV Uncertain significance 901514 GRCh37: 4:111539174-111539174
GRCh38: 4:110618018-110618018
31 PITX2 NM_153427.2(PITX2):c.-1491G>A SNV Uncertain significance 901089 GRCh37: 4:111563181-111563181
GRCh38: 4:110642025-110642025
32 PITX2 NM_000325.6(PITX2):c.*687A>G SNV Uncertain significance 901347 GRCh37: 4:111538594-111538594
GRCh38: 4:110617438-110617438
33 PITX2 NM_000325.6(PITX2):c.*440C>T SNV Uncertain significance 902850 GRCh37: 4:111538841-111538841
GRCh38: 4:110617685-110617685
34 PITX2 NM_000325.6(PITX2):c.*173G>A SNV Uncertain significance 900360 GRCh37: 4:111539108-111539108
GRCh38: 4:110617952-110617952
35 PITX2 NM_153427.2(PITX2):c.-40G>A SNV Uncertain significance 899457 GRCh37: 4:111557966-111557966
GRCh38: 4:110636810-110636810
36 PITX2 NM_153427.2(PITX2):c.-245G>A SNV Uncertain significance 899519 GRCh37: 4:111558171-111558171
GRCh38: 4:110637015-110637015
37 PITX2 NM_153427.2(PITX2):c.-1137G>A SNV Uncertain significance 902615 GRCh37: 4:111559063-111559063
GRCh38: 4:110637907-110637907
38 PITX2 NM_153427.2(PITX2):c.-1209C>T SNV Uncertain significance 899850 GRCh37: 4:111559135-111559135
GRCh38: 4:110637979-110637979
39 PITX2 NM_153427.2(PITX2):c.-1411C>T SNV Uncertain significance 901582 GRCh37: 4:111563101-111563101
GRCh38: 4:110641945-110641945
40 PITX2 NM_000325.6(PITX2):c.819G>A (p.Pro273=) SNV Benign 167472 rs148191851 GRCh37: 4:111539437-111539437
GRCh38: 4:110618281-110618281
41 PITX2 NM_153427.2(PITX2):c.-392G>T SNV Benign 902339 GRCh37: 4:111558318-111558318
GRCh38: 4:110637162-110637162
42 PITX2 NM_153427.2(PITX2):c.-1068C>T SNV Benign 903410 GRCh37: 4:111558994-111558994
GRCh38: 4:110637838-110637838
43 PITX2 NM_000325.6(PITX2):c.619A>G (p.Met207Val) SNV Benign 559593 rs138163892 GRCh37: 4:111539637-111539637
GRCh38: 4:110618481-110618481
44 PITX2 NM_153427.2(PITX2):c.46+8C>G SNV Benign 196584 rs199896960 GRCh37: 4:111554101-111554101
GRCh38: 4:110632945-110632945
45 PITX2 NM_153427.2(PITX2):c.-211G>A SNV Benign 902274 GRCh37: 4:111558137-111558137
GRCh38: 4:110636981-110636981
46 PITX2 NM_153427.2(PITX2):c.-362C>G SNV Benign 900658 GRCh37: 4:111558288-111558288
GRCh38: 4:110637132-110637132
47 PITX2 NM_153427.2(PITX2):c.-485C>G SNV Benign 902412 GRCh37: 4:111558411-111558411
GRCh38: 4:110637255-110637255
48 PITX2 NM_153427.2(PITX2):c.-793C>A SNV Benign 902484 GRCh37: 4:111558719-111558719
GRCh38: 4:110637563-110637563
49 PITX2 NM_153427.2(PITX2):c.-1024G>A SNV Benign 902558 GRCh37: 4:111558950-111558950
GRCh38: 4:110637794-110637794
50 PITX2 NM_153427.2(PITX2):c.-1111C>G SNV Benign 900960 GRCh37: 4:111559037-111559037
GRCh38: 4:110637881-110637881

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

72
# Symbol AA change Variation ID SNP ID
1 PITX2 p.Arg108His VAR_035027 rs104893862

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

Pathways related to Ring Dermoid of Cornea according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.67 ITGAX ITGAE CD8A

GO Terms for Ring Dermoid of Cornea

Cellular components related to Ring Dermoid of Cornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin complex GO:0008305 8.96 ITGAX ITGAE
2 GABA-A receptor complex GO:1902711 8.62 GABRR1 GABRB1

Biological processes related to Ring Dermoid of Cornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-aminobutyric acid signaling pathway GO:0007214 8.96 GABRR1 GABRB1
2 positive regulation of myelination GO:0031643 8.62 NCMAP ITGAX

Molecular functions related to Ring Dermoid of Cornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 8.62 GABRR1 GABRB1

Sources for Ring Dermoid of Cornea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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