MCID: ISL067
MIFTS: 16

Isolated Congenital Megalocornea

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Isolated Congenital Megalocornea

MalaCards integrated aliases for Isolated Congenital Megalocornea:

Name: Isolated Congenital Megalocornea 53 59
Congenital Anterior Megalophthalmia 53 59
Congenital Keratoglobus 73
Megalocornea 53
Mgc1 53
Mgcn 53

Characteristics:

Orphanet epidemiological data:

59
isolated congenital megalocornea
Inheritance: X-linked recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA91489
ICD10 via Orphanet 34 Q15.8

Summaries for Isolated Congenital Megalocornea

NIH Rare Diseases : 53 Isolated congenital megalocornea is an inheritedeye 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.

MalaCards based summary : Isolated Congenital Megalocornea, also known as congenital anterior megalophthalmia, is related to megalocornea and megalocornea-intellectual disability syndrome. An important gene associated with Isolated Congenital Megalocornea is CHRDL1 (Chordin Like 1). Affiliated tissues include eye.

Related Diseases for Isolated Congenital Megalocornea

Graphical network of the top 20 diseases related to Isolated Congenital Megalocornea:



Diseases related to Isolated Congenital Megalocornea

Symptoms & Phenotypes for Isolated Congenital Megalocornea

Drugs & Therapeutics for Isolated Congenital 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 Isolated Congenital Megalocornea

Genetic Tests for Isolated Congenital Megalocornea

Anatomical Context for Isolated Congenital Megalocornea

MalaCards organs/tissues related to Isolated Congenital Megalocornea:

41
Eye

Publications for Isolated Congenital Megalocornea

Variations for Isolated Congenital Megalocornea

ClinVar genetic disease variations for Isolated Congenital Megalocornea:

6
(show all 14)
# 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

Expression for Isolated Congenital Megalocornea

Search GEO for disease gene expression data for Isolated Congenital Megalocornea.

Pathways for Isolated Congenital Megalocornea

GO Terms for Isolated Congenital Megalocornea

Sources for Isolated Congenital 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....