MCID: RNG003
MIFTS: 21

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 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
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 endogenous depression and 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 and eye, and related phenotypes are abnormal cornea morphology 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:

# Related Disease Score Top Affiliating Genes
1 endogenous depression 10.2
2 depression 10.2
3 melancholia 10.1
4 muscle disorders 9.8
5 bruxism 9.8
6 amyloidosis 9.8
7 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:

57
Eyes:
annular limbal dermoids extending onto cornea and conjunctiva


Clinical features from OMIM:

180550

Human phenotypes related to Ring Dermoid of Cornea:

32
# Description HPO Frequency HPO Source Accession
1 abnormal cornea morphology 32 HP:0000481
2 abnormal conjunctiva morphology 32 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 29 PITX2

Anatomical Context for Ring Dermoid of Cornea

MalaCards organs/tissues related to Ring Dermoid of Cornea:

41
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:

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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