Details of Disease

General Information of Disease (ID: DISIULDO)

Disease Name Nanophthalmia
Definition Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
Disease Hierarchy
DISYKSRF: Genetic disease
DISGEBES: Microphthalmia
DISA55ZA: Isolated anophthalmia-microphthalmia syndrome
DISIULDO: Nanophthalmia
Disease Identifiers
MONDO ID
MONDO_0005514
UMLS CUI
C4274282
MedGen ID
901455
Orphanet ID
35612
SNOMED CT ID
716775009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BEST1 OTWHE1ZC Supportive Autosomal dominant [1]
CRB1 OTXYUNG0 Supportive Autosomal dominant [1]
MFRP OTHY9ZA5 Supportive Autosomal dominant [2]
PRSS56 OTPPXTBB Supportive Autosomal dominant [3]
TMEM98 OTKDUEED Supportive Autosomal dominant [4]
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References

1 The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16.
2 Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9553-8. doi: 10.1073/pnas.0501451102. Epub 2005 Jun 23.
3 Mutations in a novel serine protease PRSS56 in families with nanophthalmos. Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12.
4 Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. JAMA Ophthalmol. 2014 Aug;132(8):970-7. doi: 10.1001/jamaophthalmol.2014.946.