MGC1
MCID: MGL003
MIFTS: 48

Megalocornea (MGC1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Megalocornea

MalaCards integrated aliases for Megalocornea:

Name: Megalocornea 56 12 52 36 29 6 43 15
Congenital Anterior Megalophthalmia 12 52 58
Isolated Congenital Megalocornea 52 58
Anterior Megalophthalmos 12
Congenital Keratoglobus 71
Mgc1 52
Mgcn 52

Characteristics:

Orphanet epidemiological data:

58
isolated congenital megalocornea
Inheritance: X-linked recessive;

OMIM:

56
Inheritance:
autosomal recessive much rarer than x-linked



Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Megalocornea

KEGG : 36 X-linked megalocornea (MGC1) is inborn defect of the anterior eye segment characterized by bilateral enlarged corneas with a horizontal diameter of 13 mm or more (measured after the age of two years) and reduced central corneal thickness in the absence of raised intraocular pressure (IOP). It is an important differential diagnosis for primary congenital glaucoma (PCG) [DS:H01203] that leads to a high risk of vision loss and needs a fast diagnostic clarification and prompt treatment. Furthermore, MGC1 is classified as non-syndromic and has to be distinguished from megalocornea in the context of syndromes, e.g. neonatal Marfan syndrome [DS:H00653] or megalocornea-mental-retardation (MMR) syndrome. MGC1 has been reported to be caused by mutations in the CHRDL1 gene.

MalaCards based summary : Megalocornea, also known as congenital anterior megalophthalmia, is related to corneal edema and glaucoma-related pigment dispersion syndrome. An important gene associated with Megalocornea is CHRDL1 (Chordin Like 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, brain and endothelial, and related phenotypes are retinal detachment and megalocornea

Disease Ontology : 12 A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has material basis in mutation in the CHRDL1 gene.

NIH Rare Diseases : 52 Isolated congenital megalocornea is an inherited eye disorder in which the cornea of the eye is enlarged from birth. The cornea in both eyes is greater than 13 mm wide, and it is not due to an increase in eye pressure. Features of megalocornea include astigmatism , decreased iris pigment (atrophy of the iris stroma), contraction of the pupil (miosis), iris tremors (iridodonesis), and dislocation of the lens. Most people with megalocornea have normal eye function, although some people can develop cataracts or glaucoma . In about 90 percent of cases, the condition is inherited in an X-linked recessive pattern. Treatment may include correcting vision with eyeglasses or contact lenses and regular exams to check for cataracts and glaucoma.

Wikipedia : 74 Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an... more...

More information from OMIM: 249300

Related Diseases for Megalocornea

Diseases related to Megalocornea via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 corneal edema 30.1 MYOC LTBP2 CYP1B1
2 glaucoma-related pigment dispersion syndrome 29.8 WDR36 MYOC CYP1B1
3 lens subluxation 29.5 FBN1 ADAMTS17 ADAMTS10
4 coloboma of macula 29.5 PITX2 FOXC1 CYP1B1
5 open-angle glaucoma 29.1 WDR36 MYOC LTBP2 FOXC1 CYP1B1
6 intraocular pressure quantitative trait locus 29.1 WDR36 PITX2 MYOC FOXC1 FBN1 CYP1B1
7 persistent hyperplastic primary vitreous 29.1 PITX2 FOXC1
8 aniridia 1 28.9 PITX2 MYOC LTBP2 FOXC1 CYP1B1
9 isolated ectopia lentis 28.7 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
10 weill-marchesani syndrome 28.5 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
11 myopia 28.0 WDR36 MYOC LTBP2 FBN1 COL11A1 ADAMTS17
12 axenfeld-rieger syndrome 27.6 WDR36 SH3PXD2B PITX2 MYOC LTBP3 LTBP2
13 primary congenital glaucoma 26.6 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
14 glaucoma 3, primary congenital, a 26.1 WDR36 PITX2 MYOC LTBP3 LTBP2 FOXC1
15 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 12.8
16 megalocornea-mental retardation syndrome 12.7
17 anophthalmia megalocornea cardiopathy skeletal anomalies 12.3
18 frank-ter haar syndrome 12.0
19 gapo syndrome 11.2
20 adrenomyodystrophy 11.2
21 goldberg-shprintzen syndrome 11.2
22 cataract 10.6
23 hypotonia 10.5
24 glaucoma 3, primary infantile, b 10.3 LTBP2 CYP1B1
25 vitreoretinopathy 10.3
26 traumatic glaucoma 10.3 MYOC LTBP2
27 acromicric dysplasia 10.3 LTBP3 FBN1
28 isolated microspherophakia 10.3 LTBP2 ADAMTS10
29 vitreous syneresis 10.2
30 glaucoma 1, open angle, a 10.2 MYOC CYP1B1
31 corneal dystrophy 10.2
32 weill-marchesani syndrome 1 10.2 LTBP2 ADAMTS10
33 pontocerebellar hypoplasia, type 9 10.2 SH3PXD2B COL11A1
34 camurati-engelmann disease 10.1 LTBP3 LTBP2 FBN1
35 hypertelorism 10.1
36 papillomatosis, confluent and reticulated 10.1
37 autosomal recessive disease 10.1
38 scoliosis 10.1
39 corneal degeneration 10.1
40 cerebral palsy 10.1
41 ocular hypertension 10.1
42 albinism 10.1
43 ectopia lentis 2, isolated, autosomal recessive 10.1 FBN1 ADAMTS10
44 ectopia lentis 1, isolated, autosomal dominant 10.1 FBN1 ADAMTS10
45 cataract 5, multiple types 10.1
46 orbital margin, hypoplasia of 10.1
47 alkaptonuria 10.1
48 brittle bone disorder 10.1
49 hydrops, lactic acidosis, and sideroblastic anemia 10.1
50 mature cataract 10.1

Graphical network of the top 20 diseases related to Megalocornea:



Diseases related to Megalocornea

Symptoms & Phenotypes for Megalocornea

Human phenotypes related to Megalocornea:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 retinal detachment 31 occasional (7.5%) HP:0000541
2 megalocornea 31 very rare (1%) HP:0000485
3 reduced visual acuity 31 very rare (1%) HP:0007663
4 corneal arcus 31 very rare (1%) HP:0001084
5 iris transillumination defect 31 very rare (1%) HP:0012805
6 cataract 31 HP:0000518
7 glaucoma 31 HP:0000501
8 lens subluxation 31 HP:0001132
9 astigmatism 31 HP:0000483
10 miosis 31 HP:0000616
11 deep anterior chamber 31 HP:0007765
12 iridodonesis 31 HP:0100693
13 decreased corneal thickness 31 HP:0100689
14 mosaic corneal dystrophy 31 HP:0007836

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
large cornea

Clinical features from OMIM:

249300

MGI Mouse Phenotypes related to Megalocornea:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.97 COL11A1 FBN1 FOXC1 LTBP1 LTBP3 NFIX
2 limbs/digits/tail MP:0005371 9.8 COL11A1 FBN1 FOXC1 LTBP1 PITX2 SH3PXD2B
3 muscle MP:0005369 9.73 ADAMTS10 FBN1 FOXC1 LTBP1 PITX2 SH3PXD2B
4 respiratory system MP:0005388 9.63 COL11A1 FBN1 FOXC1 LTBP2 LTBP3 PITX2
5 skeleton MP:0005390 9.61 ADAMTS10 COL11A1 FBN1 FOXC1 LTBP1 LTBP3
6 vision/eye MP:0005391 9.28 ADAMTS10 CYP1B1 FOXC1 LTBP2 LTBP3 MYOC

Drugs & Therapeutics for Megalocornea

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161

Search NIH Clinical Center for Megalocornea

Cochrane evidence based reviews: megalocornea

Genetic Tests for Megalocornea

Genetic tests related to Megalocornea:

# Genetic test Affiliating Genes
1 Megalocornea 29 CHRDL1

Anatomical Context for Megalocornea

MalaCards organs/tissues related to Megalocornea:

40
Eye, Brain, Endothelial

Publications for Megalocornea

Articles related to Megalocornea:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. 61 6
25712132 2015
2
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. 61 6
22284829 2012
3
A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting with Congenital Glaucoma. 61
31809395 2019
4
Quantification of collagen structural changes during chick corneal development. 61
31465146 2019
5
Biometric changes in Indian pediatric cataract and postoperative refractive status. 61
31238413 2019
6
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. 61
30565850 2019
7
[Big beautiful eyes: What if it is megalocornea?] 61
30553622 2019
8
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. 61
30345601 2018
9
Glaucoma With Crouzon Syndrome. 61
29557836 2018
10
Direct View of the Angle Structures in Bilateral Congenital Megalocornea. 61
29681294 2018
11
Anterior megalophthalmos: Is visual restoration possible? 61
29930460 2018
12
Cataract surgery with intraocular lens implantation in 3 brothers with megalocornea: Long-term follow-up. 61
29703292 2018
13
Megalocornea associated with microduplications on chromosome 16. 61
28453371 2018
14
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. 61
29100834 2017
15
Traumatic cataract in patient with anterior megalophthalmos: Case report. 61
28746174 2017
16
Posterior argentinean flag-like sign during primary posterior continuous curvilinear capsulorhexis. 61
28832744 2017
17
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 61
28555453 2017
18
Surgical Management of a Patient with Anterior Megalophthalmos, Lens Subluxation, and a High Risk of Retinal Detachment. 61
28203198 2017
19
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. 61
27217304 2016
20
Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting. 61
27853026 2016
21
Ocular findings associated with chromosome 22q11.2 duplication. 61
27108843 2016
22
A Comparison of Rebound to Indentation Tonometry in Supine Sedated Children with Glaucoma. 61
27162450 2016
23
Frank-ter Haar syndrome--additional findings? 61
26582053 2016
24
[Neuhauser syndrome: the facial dysmorphic phenotype]. 61
26820212 2016
25
[Papillary oedema revealing Arnold Chiari malformation type 1: about a case]. 61
28154648 2016
26
Newborn Glaucoma with Imperforate Pupil. 61
26192154 2015
27
Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea. 61
26020825 2015
28
X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8). 61
24073597 2015
29
Anterior Chamber Iris Claw Lens for the Treatment of Aphakia in a Patient with Megalocornea. 61
26120314 2015
30
MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS. 61
26852516 2015
31
Sturge-Weber syndrome: Continued vigilance is needed. 61
27493438 2015
32
Cataract Surgery in Anterior Megalophthalmos: A Review. 61
27350950 2015
33
Pediatric genetic disease of the cornea. 61
27625877 2014
34
Comment on 'Contact lens correction for an aphakic patient with megalocornea'. 61
25447855 2014
35
Axial length's role in intraocular lens power calculation error in X-linked megalocornea: a case-series analysis. 61
24001017 2014
36
Contact lens correction for an aphakic patient with megalocornea. 61
24656547 2014
37
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. 61
25093588 2014
38
White-to-white corneal diameter: normal values in healthy Iranian population obtained with the Orbscan II. 61
24790875 2014
39
[What big eyes you have!]. 61
23595650 2013
40
A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. 61
24032283 2013
41
[Cataract surgery in a patient with megalocornea - a case report]. 61
23882742 2013
42
Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. 61
24032289 2013
43
Successful visual rehabilitation in a case of anterior megalophthalmos. 61
23248546 2012
44
Misdiagnosis induced intraocular lens dislocation in anterior megalophthalmos. 61
22932204 2012
45
Frank-Ter Haar syndrome in a newborn. 61
22037860 2012
46
Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights. 61
22480745 2012
47
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. 61
22452838 2012
48
Genetic eye research in Tasmania: a historical overview. 61
22044574 2012
49
'Cone dystrophy with supranormal rod response' in children. 61
21900228 2012
50
Genetics of primary glaucoma. 61
21730848 2011

Variations for Megalocornea

ClinVar genetic disease variations for Megalocornea:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHRDL1 NM_001143981.2(CHRDL1):c.872del (p.Cys291fs)deletion Pathogenic 29957 rs398122851 X:109931938-109931938 X:110688710-110688710
2 CHRDL1 NM_001143981.2(CHRDL1):c.782G>T (p.Cys261Phe)SNV Pathogenic 29958 rs387906713 X:109932028-109932028 X:110688800-110688800
3 CHRDL1 NM_001143981.2(CHRDL1):c.301+2T>GSNV Pathogenic 29959 rs587776868 X:110002887-110002887 X:110759659-110759659
4 CHRDL1 NM_001143981.2(CHRDL1):c.100_101GA[1] (p.Glu34fs)short repeat Pathogenic 29960 rs398122852 X:110006028-110006029 X:110762800-110762801
5 CHRDL1 NM_001143981.2(CHRDL1):c.652C>T (p.Arg218Ter)SNV Pathogenic 29961 rs387906714 X:109937517-109937517 X:110694289-110694289
6 CHRDL1 NM_001143981.2(CHRDL1):c.805_806TC[1] (p.His270fs)short repeat Pathogenic 218164 rs863225435 X:109932002-109932003 X:110688774-110688775
7 CHRDL1 NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs)duplication Pathogenic 369678 rs1057516043 X:109963084-109963084 X:110719856-110719856
8 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
9 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu)SNV Likely pathogenic 627622 rs1568269273 19:13136247-13136247 19:13025433-13025433
10 46;XY;t(6;20)(p12;q13.1)dnTranslocation Uncertain significance 267920

Expression for Megalocornea

Search GEO for disease gene expression data for Megalocornea.

Pathways for Megalocornea

Pathways related to Megalocornea according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 LTBP3 LTBP2 LTBP1 FBN1 COL11A1
2
Show member pathways
12.21 LTBP3 LTBP2 LTBP1 FBN1 COL11A1
3 11.47 PITX2 LTBP1 FBN1
4
Show member pathways
10.79 LTBP3 LTBP2 LTBP1 FBN1
5 10.56 LTBP3 LTBP2 LTBP1 FBN1 COL11A1
6 10.53 LTBP2 LTBP1 FBN1

GO Terms for Megalocornea

Cellular components related to Megalocornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 MYOC LTBP3 LTBP2 LTBP1 FBN1 COL11A1
2 endoplasmic reticulum lumen GO:0005788 9.62 LTBP1 FBN1 COL11A1 CHRDL1
3 extracellular matrix GO:0031012 9.56 LTBP2 LTBP1 FBN1 COL11A1
4 collagen-containing extracellular matrix GO:0062023 9.17 MYOC LTBP3 LTBP2 LTBP1 FBN1 COL11A1
5 microfibril GO:0001527 9.13 LTBP1 FBN1 ADAMTS10

Biological processes related to Megalocornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.54 SH3PXD2B FOXC1 FBN1
2 ossification GO:0001503 9.5 FOXC1 COL11A1 CHRDL1
3 camera-type eye development GO:0043010 9.43 PITX2 FOXC1 FBN1
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.4 FOXC1 COL11A1
5 collagen fibril organization GO:0030199 9.33 FOXC1 CYP1B1 COL11A1
6 sequestering of TGFbeta in extracellular matrix GO:0035583 8.96 LTBP1 FBN1
7 eye development GO:0001654 8.8 SH3PXD2B FOXC1 CHRDL1

Molecular functions related to Megalocornea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.5 LTBP2 FBN1 COL11A1
2 growth factor binding GO:0019838 9.33 LTBP3 LTBP2 LTBP1
3 transforming growth factor beta binding GO:0050431 9.26 LTBP3 LTBP1
4 microfibril binding GO:0050436 8.96 LTBP2 LTBP1
5 extracellular matrix structural constituent GO:0005201 8.92 LTBP2 LTBP1 FBN1 COL11A1

Sources for Megalocornea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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