Details of Disease | DrugMAP

General Information of Disease (ID: DISI2QC5)

Disease Name	Ring dermoid of cornea
Synonyms	RDC; RING dermoid of cornea; bilateral, annular limbal dermoids with corneal and conjunctival extension; Ring dermoid syndrome; ring dermoid of cornea
Definition	Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
Disease Hierarchy	DISYKSRF: Genetic disease DISMX03T: Eye neoplasm DISI2QC5: Ring dermoid of cornea
Disease Identifiers	MONDO ID MONDO_0008387 MESH ID C535684 UMLS CUI C1867155 OMIM ID 180550 MedGen ID 357922 Orphanet ID 91481 SNOMED CT ID 723499000

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
SNRPD1	OTWKZV4E	Limited	Biomarker	[1]
PITX2	OTWMXAOY	Definitive	Autosomal dominant	[2]
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References

1	Anti-SmD1 antibodies are associated with renal disorder, seizures, and pulmonary arterial hypertension in Chinese patients with active SLE.Sci Rep. 2017 Aug 8;7(1):7617. doi: 10.1038/s41598-017-08099-3.
2	Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant. Biochemistry. 2012 Jan 17;51(2):665-76. doi: 10.1021/bi201639x. Epub 2012 Jan 6.