Details of Disease

General Information of Disease (ID: DIS7HV8A)

Disease Name Sclerocornea
Synonyms isolated congenital sclerocornea; sclerocornea; sclerocornea (disease)
Definition A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
Disease Hierarchy
DISTUIM1: Corneal disease
DIS7HV8A: Sclerocornea
Disease Identifiers
MONDO ID
MONDO_0019629
MESH ID
C565209
UMLS CUI
C1853235
MedGen ID
344000
HPO ID
HP:0000647
Orphanet ID
91490

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BMP4 TTD3BSX Strong Genetic Variation [1]
GJA8 TTJ7ATH Strong Biomarker [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAD21 OTQS84ZF Limited Biomarker [3]
EFNA5 OTOH4DRR moderate Biomarker [4]
SCARF2 OT0X0ZLC moderate Genetic Variation [5]
FOXE3 OTAUDKC1 Strong Genetic Variation [6]
HCCS OTQE88BE Strong Genetic Variation [7]
NDP OTGDJ4US Strong Genetic Variation [8]
RAX OTJ3YCE7 Strong Genetic Variation [9]
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⏷ Show the Full List of 7 DOT(s)

References

1 Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.Eur J Hum Genet. 2019 Sep;27(9):1379-1388. doi: 10.1038/s41431-019-0423-4. Epub 2019 May 3.
2 New mutations in GJA8 expand the phenotype to include total sclerocornea. Clin Genet. 2018 Jan;93(1):155-159. doi: 10.1111/cge.13045. Epub 2017 Sep 8.
3 A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree.Dis Markers. 2019 Nov 12;2019:8781524. doi: 10.1155/2019/8781524. eCollection 2019.
4 New corneal findings in chromosome 10 deletion syndrome: report of two cases of corneal ectasia of varying severity.Semin Ophthalmol. 2015 Jan;30(1):58-61. doi: 10.3109/08820538.2013.821503. Epub 2013 Sep 30.
5 Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425. Epub 2014 Jan 29.
6 Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.Cornea. 2018 Sep;37(9):1178-1181. doi: 10.1097/ICO.0000000000001655.
7 HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?.Mol Vis. 2007 Aug 27;13:1475-82.
8 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1.
9 Confirmation of RAX gene involvement in human anophthalmia. Clin Genet. 2008 Oct;74(4):392-5. doi: 10.1111/j.1399-0004.2008.01078.x. Epub 2008 Sep 9.