MCID: ISL067
MIFTS: 16

Isolated Congenital Megalocornea

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Congenital Megalocornea

MalaCards integrated aliases for Isolated Congenital Megalocornea:

Name: Isolated Congenital Megalocornea 54 60
Congenital Anterior Megalophthalmia 54 60
Congenital Keratoglobus 74
Megalocornea 54
Mgc1 54
Mgcn 54

Characteristics:

Orphanet epidemiological data:

60
isolated congenital megalocornea
Inheritance: X-linked recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q15.8
Orphanet 60 ORPHA91489
UMLS 74 C0344530

Summaries for Isolated Congenital Megalocornea

NIH Rare Diseases : 54 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 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma. 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:

42
Eye

Publications for Isolated Congenital Megalocornea

Variations for Isolated Congenital Megalocornea

ClinVar genetic disease variations for Isolated Congenital Megalocornea:

6 (show all 19)
# 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 rs1553200431 GRCh37 Chromosome 1, 103377736: 103377753
17 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 GRCh38 Chromosome 1, 102912180: 102912197
18 NFIX NM_002501.3(NFIX): c.440G> A (p.Gly147Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 13025433: 13025433
19 NFIX NM_002501.3(NFIX): c.440G> A (p.Gly147Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 13136247: 13136247

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

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