Aliases & Classifications for Megalocornea

MalaCards integrated aliases for Megalocornea:

Name: Megalocornea 57 12 37 29 6 44 15
Congenital Anterior Megalophthalmia 12
Anterior Megalophthalmos 12
Congenital Keratoglobus 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive much rarer than x-linked


HPO:

32

Classifications:



External Ids:

OMIM 57 249300
Disease Ontology 12 DOID:0060305
MeSH 44 C562829
SNOMED-CT 68 39978004
MedGen 42 C0344530
KEGG 37 H02104
UMLS 73 C0344530

Summaries for Megalocornea

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

MalaCards based summary : Megalocornea, also known as congenital anterior megalophthalmia, is related to glaucoma 3, primary congenital, a and open-angle glaucoma. An important gene associated with Megalocornea is CHRDL1 (Chordin Like 1). Affiliated tissues include eye, endothelial and bone, and related phenotype is megalocornea.

Wikipedia : 76 Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an... more...

Description from OMIM: 249300

Related Diseases for Megalocornea

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 30.0 LTBP2 OPTN SH3PXD2B
2 open-angle glaucoma 29.7 LTBP2 OPTN
3 primary congenital glaucoma 29.5 LTBP2 OPTN SH3PXD2B
4 megalocornea-intellectual disability syndrome 12.4
5 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 12.4
6 isolated congenital megalocornea 12.4
7 megalocornea - spherophakia - secondary glaucoma 12.4
8 megalocornea-mental retardation syndrome 12.2
9 anophthalmia megalocornea cardiopathy skeletal anomalies 12.1
10 gapo syndrome 11.0
11 frank-ter haar syndrome 11.0
12 adrenomyodystrophy 11.0
13 goldberg-shprintzen syndrome 11.0
14 cataract 10.3
15 hypotonia 10.1
16 cataract 5, multiple types 10.0
17 retinal detachment 10.0
18 alkaptonuria 10.0
19 brittle bone disorder 10.0
20 myopia 10.0
21 excessive tearing 10.0 LTBP2 OPTN
22 mastocytosis, cutaneous 9.9
23 glaucoma 3, primary infantile, b 9.9
24 astigmatism 9.9
25 hydrocephalus 9.9
26 persistent hyperplastic primary vitreous 9.9
27 autosomal recessive congenital ichthyosis 9.9
28 lens subluxation 9.9
29 phacolytic glaucoma 9.9
30 axenfeld-rieger syndrome 9.9
31 urticaria 9.9
32 ichthyosis 9.9
33 epilepsy 9.9
34 ocular hypertension 9.9
35 albinism 9.9
36 congenital hydrocephalus 9.9
37 retinochoroidal coloboma 9.9
38 corneal edema 9.9 LTBP2 OPTN
39 amblyopia 9.9 OPTN TSEN54
40 hydrophthalmos 9.8 LTBP2 OPTN SH3PXD2B

Graphical network of the top 20 diseases related to Megalocornea:



Diseases related to Megalocornea

Symptoms & Phenotypes for Megalocornea

Symptoms via clinical synopsis from OMIM:

57
H E E N T:
large cornea


Clinical features from OMIM:

249300

Human phenotypes related to Megalocornea:

32
# Description HPO Frequency HPO Source Accession
1 megalocornea 32 HP:0000485

Drugs & Therapeutics for Megalocornea

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens 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:

41
Eye, Endothelial, Bone

Publications for Megalocornea

Articles related to Megalocornea:

(show top 50) (show all 85)
# Title Authors Year
1
Direct View of the Angle Structures in Bilateral Congenital Megalocornea. ( 29681294 )
2018
2
Cataract surgery with intraocular lens implantation in 3 brothers with megalocornea: Long-term follow-up. ( 29703292 )
2018
3
Megalocornea associated with microduplications on chromosome 16. ( 28453371 )
2017
4
Surgical Management of a Patient with Anterior Megalophthalmos, Lens Subluxation, and a High Risk of Retinal Detachment. ( 28203198 )
2017
5
Combined phacoemulsification and anterior vitrectomy in a case of anterior megalophthalmos with open-angle glaucoma and high myopia. ( 28730127 )
2017
6
Infantile-onset glaucoma and anterior megalophthalmos in osteogenesis imperfecta. ( 26994503 )
2016
7
Anterior Chamber Iris Claw Lens for the Treatment of Aphakia in a Patient with Megalocornea. ( 26120314 )
2015
8
MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS. ( 26852516 )
2015
9
Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea. ( 26020825 )
2015
10
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. ( 25712132 )
2015
11
X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8). ( 24073597 )
2015
12
Comment on 'Contact lens correction for an aphakic patient with megalocornea'. ( 25447855 )
2014
13
Axial length's role in intraocular lens power calculation error in X-linked megalocornea: a case-series analysis. ( 24001017 )
2014
14
Contact lens correction for an aphakic patient with megalocornea. ( 24656547 )
2014
15
Association of CHRDL1 mutations and variants with X-linked megalocornea, NeuhAouser syndrome and central corneal thickness. ( 25093588 )
2014
16
Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. ( 24032289 )
2013
17
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. ( 22284829 )
2012
18
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. ( 22025892 )
2011
19
Phacoemulsification with corneal astigmatism correction with the use of a toric intraocular lens in a case of megalocornea. ( 21782100 )
2011
20
Concurrent presentation of aniridia and megalocornea without glaucoma. ( 21665500 )
2011
21
MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy. ( 20730324 )
2010
22
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. ( 20179738 )
2010
23
Megalocornea-urticaria pigmentosa syndrome--a new syndrome? ( 19706342 )
2009
24
Cataract surgery in megalocornea Comparison of 2 surgical approaches in a single patient. ( 19969205 )
2009
25
Megalocornea and bilateral developmental cataracts. ( 18165100 )
2008
26
Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea. ( 17413972 )
2007
27
Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case. ( 17005108 )
2006
28
Vitreoretinal disorders in anterior megalophthalmos. ( 17180525 )
2006
29
Bilateral Artisan lens for aphakia and megalocornea: Long-term follow-up. ( 16631070 )
2006
30
Megalocornea-mental retardation syndrome. ( 16141491 )
2005
31
In vivo confocal microscopy of megalocornea with central mosaic dystrophy. ( 15670092 )
2005
32
Secondary peripheral iris suture fixation of an acrylic IOL in megalocornea. ( 15721672 )
2005
33
Megalocornea-mental retardation (MMR or Neuhauser) syndrome: another case associated with cerebral cortical atrophy and Bifid uvula. ( 15658626 )
2004
34
Primary megalocornea: clinical features for differentiation from infantile glaucoma. ( 14974829 )
2004
35
Cataract extraction in X-linked megalocornea: a case report. ( 15220744 )
2004
36
In vivo confocal microscopy in primary congenital glaucoma with megalocornea. ( 11912354 )
2002
37
Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhäuser syndrome) in two sisters with hypoplastic corpus callosum. ( 12405447 )
2002
38
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. ( 11135491 )
2000
39
Autosomal-dominant megalocornea associated with ocular hypertension. ( 10845420 )
2000
40
A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment. ( 10453191 )
1999
41
Bilateral megalocornea with unilateral lens subluxation. ( 9134548 )
1997
42
Megalocornea-mental retardation syndrome: an additional case report. ( 12503196 )
1997
43
Megalocornea-mental retardation syndrome: report of a new case. ( 8933347 )
1996
44
Megalocornea-mental retardation syndrome: an additional case. ( 7802008 )
1994
45
Megalocornea, developmental retardation and dysmorphic features: two further patients. ( 7519950 )
1994
46
Biometry in X linked megalocornea: pathognomonic findings. ( 7803356 )
1994
47
Megalocornea. Clinical and genetic aspects. ( 7835180 )
1994
48
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. ( 8484397 )
1993
49
Additional case of NeuhAouser megalocornea and mental retardation syndrome with congenital hypotonia. ( 1605258 )
1992
50
Autosomal dominant congenital miosis with megalocornea. ( 1495762 )
1992

Variations for Megalocornea

ClinVar genetic disease variations for Megalocornea:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRDL1 NM_001143981.1(CHRDL1): c.872delG (p.Cys291Leufs) deletion Pathogenic rs398122851 GRCh37 Chromosome X, 109931938: 109931938
2 CHRDL1 NM_001143981.1(CHRDL1): c.872delG (p.Cys291Leufs) deletion Pathogenic rs398122851 GRCh38 Chromosome X, 110688710: 110688710
3 CHRDL1 NM_001143981.1(CHRDL1): c.782G> T (p.Cys261Phe) single nucleotide variant Pathogenic rs387906713 GRCh37 Chromosome X, 109932028: 109932028
4 CHRDL1 NM_001143981.1(CHRDL1): c.782G> T (p.Cys261Phe) single nucleotide variant Pathogenic rs387906713 GRCh38 Chromosome X, 110688800: 110688800
5 CHRDL1 NM_001143981.1(CHRDL1): c.301+2T> G single nucleotide variant Pathogenic rs587776868 GRCh37 Chromosome X, 110002887: 110002887
6 CHRDL1 NM_001143981.1(CHRDL1): c.301+2T> G single nucleotide variant Pathogenic rs587776868 GRCh38 Chromosome X, 110759659: 110759659
7 CHRDL1 NM_001143981.1(CHRDL1): c.101_102delAG (p.Glu34Aspfs) deletion Pathogenic rs398122852 GRCh37 Chromosome X, 110006028: 110006029
8 CHRDL1 NM_001143981.1(CHRDL1): c.101_102delAG (p.Glu34Aspfs) deletion Pathogenic rs398122852 GRCh38 Chromosome X, 110762800: 110762801
9 CHRDL1 NM_001143981.1(CHRDL1): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs387906714 GRCh37 Chromosome X, 109937517: 109937517
10 CHRDL1 NM_001143981.1(CHRDL1): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs387906714 GRCh38 Chromosome X, 110694289: 110694289
11 CHRDL1 NM_001143981.1(CHRDL1): c.807_808delTC (p.His270Trpfs) deletion Pathogenic rs863225435 GRCh37 Chromosome X, 109932002: 109932003
12 CHRDL1 NM_001143981.1(CHRDL1): c.807_808delTC (p.His270Trpfs) deletion Pathogenic rs863225435 GRCh38 Chromosome X, 110688774: 110688775
13 CHRDL1 NM_001143981.1(CHRDL1): c.520dupT (p.Ser174Phefs) duplication Pathogenic rs1057516043 GRCh38 Chromosome X, 110719856: 110719856
14 CHRDL1 NM_001143981.1(CHRDL1): c.520dupT (p.Ser174Phefs) duplication Pathogenic rs1057516043 GRCh37 Chromosome X, 109963084: 109963084
15 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
16 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197

Expression for Megalocornea

Search GEO for disease gene expression data for Megalocornea.

Pathways for Megalocornea

GO Terms for Megalocornea

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

# Name GO ID Score Top Affiliating Genes
1 eye development GO:0001654 8.62 CHRDL1 SH3PXD2B

Sources for Megalocornea

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
Content
Loading form....