Details of Disease

General Information of Disease (ID: DISUKC3X)

Disease Name Cryptophthalmia
Synonyms cryptophthalmos
Definition A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.
Disease Hierarchy
DIS3Q4UE: Eyelid disorder
DISUKC3X: Cryptophthalmia
Disease Identifiers
MONDO ID
MONDO_0020153
UMLS CUI
C0311249
MedGen ID
81386
HPO ID
HP:0001126
Orphanet ID
98562
SNOMED CT ID
400951005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FRAS1 OTLPESF3 Limited Biomarker [1]
FREM2 OTEK6BZR Strong Biomarker [2]
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References

1 The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.Connect Tissue Res. 2008;49(3):277-82. doi: 10.1080/03008200802148025.
2 The role of Fras1/Frem proteins in the structure and function of basement membrane.Int J Biochem Cell Biol. 2011 Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016. Epub 2010 Dec 21.