Aliases & Classifications for Megalocornea

MalaCards integrated aliases for Megalocornea:

Name: Megalocornea 57 12 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
MedGen 42 C0344530
SNOMED-CT via HPO 69 258211005 263934009
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 primary congenital glaucoma and glaucoma 3, primary congenital, a. An important gene associated with Megalocornea is CHRDL1 (Chordin Like 1). Affiliated tissues include eye, 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

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
HEENT:
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

Publications for Megalocornea

Articles related to Megalocornea:

(show all 42)
# 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
Infantile-onset glaucoma and anterior megalophthalmos in osteogenesis imperfecta. ( 26994503 )
2016
6
Anterior Chamber Iris Claw Lens for the Treatment of Aphakia in a Patient with Megalocornea. ( 26120314 )
2015
7
MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS. ( 26852516 )
2015
8
Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea. ( 26020825 )
2015
9
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. ( 25712132 )
2015
10
X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8). ( 24073597 )
2015
11
Comment on 'Contact lens correction for an aphakic patient with megalocornea'. ( 25447855 )
2014
12
Axial length's role in intraocular lens power calculation error in X-linked megalocornea: a case-series analysis. ( 24001017 )
2014
13
Contact lens correction for an aphakic patient with megalocornea. ( 24656547 )
2014
14
Association of CHRDL1 mutations and variants with X-linked megalocornea, NeuhAouser syndrome and central corneal thickness. ( 25093588 )
2014
15
Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. ( 24032289 )
2013
16
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. ( 22284829 )
2012
17
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. ( 22025892 )
2011
18
Phacoemulsification with corneal astigmatism correction with the use of a toric intraocular lens in a case of megalocornea. ( 21782100 )
2011
19
Concurrent presentation of aniridia and megalocornea without glaucoma. ( 21665500 )
2011
20
MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy. ( 20730324 )
2010
21
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. ( 20179738 )
2010
22
Megalocornea-urticaria pigmentosa syndrome--a new syndrome? ( 19706342 )
2009
23
Cataract surgery in megalocornea Comparison of 2 surgical approaches in a single patient. ( 19969205 )
2009
24
Megalocornea and bilateral developmental cataracts. ( 18165100 )
2008
25
Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea. ( 17413972 )
2007
26
Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case. ( 17005108 )
2006
27
Vitreoretinal disorders in anterior megalophthalmos. ( 17180525 )
2006
28
Megalocornea-mental retardation syndrome. ( 16141491 )
2005
29
Megalocornea-mental retardation (MMR or Neuhauser) syndrome: another case associated with cerebral cortical atrophy and Bifid uvula. ( 15658626 )
2004
30
In vivo confocal microscopy in primary congenital glaucoma with megalocornea. ( 11912354 )
2002
31
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. ( 11135491 )
2000
32
A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment. ( 10453191 )
1999
33
Bilateral megalocornea with unilateral lens subluxation. ( 9134548 )
1997
34
Megalocornea-mental retardation syndrome: an additional case report. ( 12503196 )
1997
35
Megalocornea-mental retardation syndrome: report of a new case. ( 8933347 )
1996
36
Megalocornea-mental retardation syndrome: an additional case. ( 7802008 )
1994
37
Additional case of NeuhAouser megalocornea and mental retardation syndrome with congenital hypotonia. ( 1605258 )
1992
38
Autosomal dominant megalocornea with congenital glaucoma: evidence for germ-line mosaicism. ( 2013021 )
1991
39
Megalocornea, macrocephaly, mental and motor retardation (MMMM). ( 2208767 )
1990
40
X-linked megalocornea: close linkage to DXS87 and DXS94. ( 2571565 )
1989
41
Megalocornea and persistent hyperplastic primary vitreous masquerading as congenital glaucoma. ( 3232519 )
1988
42
Phacolytic glaucoma in an eye with megalocornea 18 years after the spontaneous luxation of the lens into the vitreous cavity. ( 316717 )
1979

Variations for Megalocornea

ClinVar genetic disease variations for Megalocornea:

6
(show all 17)
# 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 46;XY;t(6;20)(p12;q13.1)dn Translocation Uncertain significance
14 CHRDL1 NM_001143981.1(CHRDL1): c.520dupT (p.Ser174Phefs) duplication Pathogenic rs1057516043 GRCh38 Chromosome X, 110719856: 110719856
15 CHRDL1 NM_001143981.1(CHRDL1): c.520dupT (p.Ser174Phefs) duplication Pathogenic rs1057516043 GRCh37 Chromosome X, 109963084: 109963084
16 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
17 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
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