Megalocornea disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MGC1 MCID: MGL003 MIFTS: 48	Megalocornea (MGC1) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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

HPO:

³¹

megalocornea:
Inheritance x-linked inheritance autosomal recessive inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Other congenital malformations of eye

Other specified congenital malformations of eye

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060305

OMIM ⁵⁶ 249300

KEGG ³⁶ H02104

MeSH ⁴³ C562829

SNOMED-CT ⁶⁷ 204118005

ICD10 via Orphanet ³³ Q15.8

Orphanet ⁵⁸ ORPHA91489

MedGen ⁴¹ C0344530

UMLS ⁷¹ C0344530

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Summaries for Megalocornea

KEGG : ³⁶ Megalocornea (MGC1) is a rare congenital disease 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 on Xq23.

MalaCards based summary : Megalocornea, also known as congenital anterior megalophthalmia, is related to corneal edema and open-angle glaucoma. 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, testes and brain, and related phenotypes are retinal detachment and reduced visual acuity

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 affects the cornea , the part of the eye that lets in light. The symptoms of isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop by 30-50 years of age. Other complications may include other cornea abnormalities, lens dislocation, and break down of the iris. Isolated congenital megalocornea occurs when the CHRDL1 gene is not working correctly. It is inherited in an X-linked recessive pattern. Diagnosis is made through a clinical examination and confirmed by DNA testing. Treatment is based on managing the symptoms and should include regular monitoring of eye health.

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

More information from OMIM: 249300

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Related Diseases for Megalocornea

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

(show top 50) (show all 118)

#	Related Disease	Score	Top Affiliating Genes
1	corneal edema	30.2	MYOC LTBP2 CYP1B1
2	open-angle glaucoma	29.8	MYOC LTBP2 FOXC1 CYP1B1
3	glaucoma-related pigment dispersion syndrome	29.8	PITX2 MYOC CYP1B1
4	marfan syndrome	29.7	LTBP2 LTBP1 FBN1
5	cataract	29.6	PITX2 MIR204 FOXC1 FBN1 COL11A1 CHRDL1
6	coloboma of macula	29.5	PITX2 MIR204 FOXC1 CYP1B1
7	lens subluxation	29.4	LTBP2 FBN1 ADAMTS17 ADAMTS10
8	intraocular pressure quantitative trait locus	29.2	PITX2 MYOC MIR204 LTBP2 FOXC1 FBN1
9	aniridia 1	29.0	PITX2 MYOC LTBP2 FOXC1 CYP1B1
10	myopia	28.8	MYOC LTBP2 FBN1 COL11A1 ADAMTS17 ADAMTS10
11	isolated ectopia lentis	28.6	LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
12	weill-marchesani syndrome	28.5	LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10
13	primary congenital glaucoma	28.3	PITX2 MYOC LTBP3 LTBP2 FOXC1 FBN1
14	axenfeld-rieger syndrome	28.1	SH3PXD2B PITX2 MYOC MIR204 LTBP3 LTBP2
15	glaucoma 3, primary congenital, a	27.6	PITX2 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
16	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	12.8
17	megalocornea-mental retardation syndrome	12.7
18	anophthalmia megalocornea cardiopathy skeletal anomalies	12.3
19	frank-ter haar syndrome	12.2
20	gapo syndrome	11.2
21	adrenomyodystrophy	11.2
22	goldberg-shprintzen syndrome	11.2
23	hypotonia	10.5
24	glaucoma 3, primary infantile, b	10.3	LTBP2 CYP1B1
25	geleophysic dysplasia 3	10.3	LTBP3 LTBP2
26	vitreoretinopathy	10.3
27	cutis laxa, autosomal recessive, type ic	10.3	LTBP3 LTBP2
28	isolated microspherophakia	10.3	LTBP2 ADAMTS10
29	pontocerebellar hypoplasia, type 9	10.3	SH3PXD2B COL11A1
30	glaucoma 1, open angle, a	10.3	MYOC CYP1B1
31	weill-marchesani syndrome 1	10.3	LTBP2 ADAMTS10
32	vitreous syneresis	10.2
33	joint laxity, short stature, and myopia	10.2
34	corneal dystrophy	10.2
35	anterior segment dysgenesis 5	10.2	MIR204 CYP1B1
36	brachyolmia	10.2	LTBP3 LTBP2
37	traumatic glaucoma	10.2	MYOC LTBP2 CYP1B1
38	autosomal recessive cutis laxa type i	10.2	LTBP3 FBN1
39	excessive tearing	10.2	MYOC LTBP2 CYP1B1
40	hypertelorism	10.1
41	papillomatosis, confluent and reticulated	10.1
42	astigmatism	10.1
43	autosomal recessive disease	10.1
44	scoliosis	10.1
45	corneal degeneration	10.1
46	cerebral palsy	10.1
47	ocular hypertension	10.1
48	albinism	10.1
49	microphthalmia, isolated 2	10.1	MYOC CYP1B1
50	ectopia lentis 1, isolated, autosomal dominant	10.1	FBN1 ADAMTS10

Graphical network of the top 20 diseases related to Megalocornea:

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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	reduced visual acuity ³¹	very rare (1%)	HP:0007663
3	megalocornea ³¹	very rare (1%)	HP:0000485
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	lens subluxation ³¹		HP:0001132
8	glaucoma ³¹		HP:0000501
9	astigmatism ³¹		HP:0000483
10	miosis ³¹		HP:0000616
11	iridodonesis ³¹		HP:0100693
12	decreased corneal thickness ³¹		HP:0100689
13	deep anterior chamber ³¹		HP:0007765
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

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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

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Genetic Tests for Megalocornea

Genetic tests related to Megalocornea:

#	Genetic test	Affiliating Genes
1	Megalocornea ²⁹	CHRDL1

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Anatomical Context for Megalocornea

MalaCards organs/tissues related to Megalocornea:

⁴⁰

Eye, Testes, Brain, Endothelial

Sources

Publications for Megalocornea

Articles related to Megalocornea:

(show top 50) (show all 198)

#	Title	Authors	PMID	Year
1	Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. ⁶ ⁶¹	Pfirrmann T...Villavicencio-Lorini P	25712132	2015
2	X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. ⁶¹ ⁶	Webb TR...Hardcastle AJ	22284829	2012
3	A rare case of neurofibromatosis type I with unilateral congenital ectropion uveae and glaucoma. ⁶¹	Venkataraman P...Mohan N	32490286	2020
4	Decentration of a toric intraocular lens implant in a patient with simple megalocornea. ⁶¹	Kuo IC	32551399	2020
5	Glaucoma as the presenting sign of intraocular tumors: beware of the masquerading sign. ⁶¹	Vempuluru VS...Kaliki S	32198607	2020
6	Ocular Manifestations of Chordin-like 1 Knockout Mice. ⁶¹	Chen D...Warman ML	32452990	2020
7	A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum. ⁶¹	Durand B...El Chehadeh S	31978614	2020
8	Primary megalocornea: Case report. ⁶¹	de Sousa Veiga A...Cintra Husni M	32057558	2020
9	A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma. ⁶¹	Ratukondla B...Pillai MR	31809395	2020
10	Quantification of collagen structural changes during chick corneal development. ⁶¹	Lee SL...Dong CY	31465146	2020
11	Biometric changes in Indian pediatric cataract and postoperative refractive status. ⁶¹	Khokhar SK...Agarwal E	31238413	2019
12	LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. ⁶¹	Morlino S...Baban A	30565850	2019
13	[Big beautiful eyes: What if it is megalocornea?] ⁶¹	Laaribi N...Oubaaz A	30553622	2019
14	Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. ⁶¹	Balobaid A...Al-Sayed M	30345601	2018
15	Glaucoma With Crouzon Syndrome. ⁶¹	Alshamrani AA...Al-Shahwan S	29557836	2018
16	Direct View of the Angle Structures in Bilateral Congenital Megalocornea. ⁶¹	Yeo DCM...Moore W	29681294	2018
17	Anterior megalophthalmos: Is visual restoration possible? ⁶¹	Sati A...Rathi VM	29930460	2018
18	Cataract surgery with intraocular lens implantation in 3 brothers with megalocornea: Long-term follow-up. ⁶¹	Messina M...Dua HS	29703292	2018
19	Megalocornea associated with microduplications on chromosome 16. ⁶¹	Samalia P...Buller A	28453371	2018
20	Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. ⁶¹	Chang TC...Cavuoto KM	29100834	2017
21	Traumatic cataract in patient with anterior megalophthalmos: Case report. ⁶¹	Chlasta-Twardzik E...Wylegala E	28746174	2017
22	Posterior argentinean flag-like sign during primary posterior continuous curvilinear capsulorhexis. ⁶¹	Marques FF...Matsumoto FK	28832744	2017
23	[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. ⁶¹	Pira-Paredes SM...Cornejo JW	28555453	2017
24	Surgical Management of a Patient with Anterior Megalophthalmos, Lens Subluxation, and a High Risk of Retinal Detachment. ⁶¹	Guixeres Esteve MC...Sanz Solana P	28203198	2017
25	A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. ⁶¹	Prochazkova D...Fajkusova L	27217304	2016
26	Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting. ⁶¹	Trivedi N...Nehete G	27853026	2016
27	Ocular findings associated with chromosome 22q11.2 duplication. ⁶¹	Forbes BJ...Binenbaum G	27108843	2016
28	A Comparison of Rebound to Indentation Tonometry in Supine Sedated Children with Glaucoma. ⁶¹	AlHarkan DH...Khan AO	27162450	2016
29	Frank-ter Haar syndrome--additional findings? ⁶¹	Kose TE...Aksakalli N	26582053	2016
30	[Neuhauser syndrome: the facial dysmorphic phenotype]. ⁶¹	Avina-Fierro JA...Hernandez-Avina DA	26820212	2016
31	[Papillary oedema revealing Arnold Chiari malformation type 1: about a case]. ⁶¹	Imane M...Rachid S	28154648	2016
32	Newborn Glaucoma with Imperforate Pupil. ⁶¹	Mandal AK...Krishnamurthy R	26192154	2015
33	Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea. ⁶¹	Mangialavori D...Scorcia V	26020825	2015
34	X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8). ⁶¹	Han J...Aldave AJ	24073597	2015
35	Anterior Chamber Iris Claw Lens for the Treatment of Aphakia in a Patient with Megalocornea. ⁶¹	Saffra N...Rosenthal KJ	26120314	2015
36	MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS. ⁶¹	Atik T...Ozkinay F	26852516	2015
37	Sturge-Weber syndrome: Continued vigilance is needed. ⁶¹	Hassan S...Salih MA	27493438	2015
38	Cataract Surgery in Anterior Megalophthalmos: A Review. ⁶¹	Galvis V...M Rangel C	27350950	2015
39	Pediatric genetic disease of the cornea. ⁶¹	Fecarotta CM...Huang WW	27625877	2014
40	Comment on 'Contact lens correction for an aphakic patient with megalocornea'. ⁶¹	Bergmanson JP	25447855	2014
41	Axial length's role in intraocular lens power calculation error in X-linked megalocornea: a case-series analysis. ⁶¹	De la Parra-Colin P...Mian SI	24001017	2014
42	Contact lens correction for an aphakic patient with megalocornea. ⁶¹	Saffra N...Rappaport S	24656547	2014
43	Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. ⁶¹	Davidson AE...Hardcastle AJ	25093588	2014
44	White-to-white corneal diameter: normal values in healthy Iranian population obtained with the Orbscan II. ⁶¹	Gharaee H...Ehsaei A	24790875	2014
45	[What big eyes you have!]. ⁶¹	Goebels SC...Kasmann-Kellner B	23595650	2013
46	Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. ⁶¹	Gutierrez-Amavizca BE...Barros-Nunez P	24032289	2013
47	A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. ⁶¹	Aydin B...Aydog O	24032283	2013
48	[Cataract surgery in a patient with megalocornea - a case report]. ⁶¹	Orczykowska M...Wilczynski M	23882742	2013
49	Successful visual rehabilitation in a case of anterior megalophthalmos. ⁶¹	Hegde V...Bappal A	23248546	2012
50	Misdiagnosis induced intraocular lens dislocation in anterior megalophthalmos. ⁶¹	Wang QW...Yao K	22932204	2012

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Genes for Megalocornea

Genes related to Megalocornea (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHRDL1	Chordin Like 1	Protein Coding	892.66	Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)	25712132 22284829
2	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	23.54	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
3	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	10.83	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
4	MIR204	MicroRNA 204	RNA Gene	8.08	DISEASES inferred ¹⁵ ¹⁵
5	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	7.18	DISEASES inferred ¹⁵
6	CYP1B1	Cytochrome P450 Family 1 Subfamily B Member 1	Protein Coding	7.05	DISEASES inferred ¹⁵
7	MYOC	Myocilin	Protein Coding	6.82	DISEASES inferred ¹⁵
8	SH3PXD2B	SH3 And PX Domains 2B	Protein Coding	6.71	DISEASES inferred ¹⁵
9	FBN1	Fibrillin 1	Protein Coding	6.65	DISEASES inferred ¹⁵
10	NFIX	Nuclear Factor I X	Protein Coding	6.59	GeneCards inferred via : Variants (show sections)
11	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	6.39	DISEASES inferred ¹⁵
12	FOXC1	Forkhead Box C1	Protein Coding	6.37	DISEASES inferred ¹⁵
13	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	6.09	DISEASES inferred ¹⁵
14	PITX2	Paired Like Homeodomain 2	Protein Coding	5.9	DISEASES inferred ¹⁵
15	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	5.72	DISEASES inferred ¹⁵
16	SPATA31A3	SPATA31 Subfamily A Member 3	Protein Coding	5.68	DISEASES inferred ¹⁵

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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>G	SNV	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:110006027-110006028	X:110762799-110762800
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:109963083-109963084	X:110719855-110719856
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)dn	Translocation	Uncertain significance	267920

Sources

Expression for Megalocornea

Search GEO for disease gene expression data for Megalocornea.

Sources

Pathways for Megalocornea

Pathways related to Megalocornea according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.66	LTBP3 LTBP2 LTBP1 FBN1 COL11A1
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.21	LTBP3 LTBP2 LTBP1 FBN1 COL11A1
3	TGF-beta signaling pathway (KEGG) ³⁶	11.47	PITX2 LTBP1 FBN1
4	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	10.79	LTBP3 LTBP2 LTBP1 FBN1
5	G-protein signaling_Rap2B regulation pathway ²²	10.56	LTBP3 LTBP2 LTBP1 FBN1 COL11A1
6	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.53	LTBP2 LTBP1 FBN1

Sources

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	9.91	MYOC LTBP3 LTBP2 LTBP1 FBN1 COL11A1
2	endoplasmic reticulum lumen	GO:0005788	9.62	LTBP1 FBN1 COL11A1 CHRDL1
3	extracellular matrix	GO:0031012	9.43	LTBP2 LTBP1 FBN1 COL11A1 ADAMTS17 ADAMTS10
4	microfibril	GO:0001527	9.33	LTBP1 FBN1 ADAMTS10
5	collagen-containing extracellular matrix	GO:0062023	9.17	MYOC LTBP3 LTBP2 LTBP1 FBN1 COL11A1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	9.67	FBN1 COL11A1 ADAMTS17 ADAMTS10
2	anatomical structure morphogenesis	GO:0009653	9.61	PITX2 FOXC1 FBN1
3	ossification	GO:0001503	9.58	FOXC1 COL11A1 CHRDL1
4	camera-type eye development	GO:0043010	9.5	PITX2 FOXC1 FBN1
5	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.46	FOXC1 COL11A1
6	collagen fibril organization	GO:0030199	9.43	FOXC1 CYP1B1 COL11A1
7	eye development	GO:0001654	9.33	SH3PXD2B FOXC1 CHRDL1
8	sequestering of TGFbeta in extracellular matrix	GO:0035583	8.96	LTBP1 FBN1
9	skeletal system development	GO:0001501	8.92	SH3PXD2B LTBP3 FOXC1 FBN1

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

Sources for Megalocornea

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia