MEGALOCORNEA

General Information (adopted from Orphanet):

Synonyms, Signs: MGCN
MGC1
Number of Symptoms 21
OrphanetNr:
OMIM Id: 309300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000541) Retinal detachment rare [HPO:skoehler] 87 / 7739
2
(HPO:0001132) Lens subluxation 13 / 7739
3
(HPO:0007836) Mosaic corneal dystrophy 1 / 7739
4
(HPO:0011487) Increased corneal thickness 3 / 7739
5
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
6
(HPO:0000518) Cataract 454 / 7739
7
(HPO:0000483) Astigmatism 67 / 7739
8
(HPO:0000485) Megalocornea 26 / 7739
9
(HPO:0001084) Corneal arcus 8 / 7739
10
(HPO:0100693) Iridodonesis 3 / 7739
11
(OMIM) Astigmatic refractive errors 1 / 7739
12
(OMIM) Iris stromal atrophy 2 / 7739
13
(OMIM) Lens subluxation or dislocation 1 / 7739
14
(OMIM) Miosis due to decreased function of dilator muscle 1 / 7739
15
(OMIM) Normal intraocular pressure 2 / 7739
16
(HPO:0001419) X-linked recessive inheritance 189 / 7739
17
(OMIM) Central corneal thickness decreased 1 / 7739
18
(OMIM) Arcus juvenilis 1 / 7739
19
(OMIM) Glaucoma secondary to lens subluxation or dislocation 1 / 7739
20
(OMIM) Anterior chamber depth increased 1 / 7739
21
(OMIM) Iris transillumination with pigment dispersion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment ...
Clinical Description OMIM In a family reported by Riddell (1941), affected males showed large cornea as an isolated defect. Heterozygous women may show slight increase in corneal diameter. Two presumed homozygous females occurred in this family.

Skuta et al. ...

Molecular genetics OMIM Using dense X chromosome-specific array CGH, Webb et al. (2012) identified an approximately 250-kb segmental deletion on Xq23 in an affected male from a 4-generation family ('family 1') with megalocornea. The deletion encompassed the 3-prime end of the ...