Details of Disease

General Information of Disease (ID: DISL51AQ)

Disease Name Cataract - microcornea syndrome
Synonyms cataract microcornea syndrome; microcornea cataract syndrome
Definition Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISL51AQ: Cataract - microcornea syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRYAA TT8CWJG Supportive Autosomal dominant [1]
CRYBB1 TTDS503 Supportive Autosomal dominant [2]
GJA8 TTJ7ATH Supportive Autosomal dominant [3]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYAA OTSN7JUR Supportive Autosomal dominant [1]
CRYBA4 OTQJ5XGE Supportive Autosomal dominant [4]
CRYBB1 OTDI4W3V Supportive Autosomal dominant [2]
CRYBB2 OTL0Z8E6 Supportive Autosomal dominant [5]
CRYGC OTYSTQWI Supportive Autosomal dominant [6]
CRYGD OTW29JC4 Supportive Autosomal dominant [7]
GJA8 OTZCPRKD Supportive Autosomal dominant [3]
MAF OT1GR3IZ Supportive Autosomal dominant [8]
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⏷ Show the Full List of 8 DOT(s)

References

1 Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. Mol Vis. 2011;17:1508-13. Epub 2011 Jun 7.
2 CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005 Aug 8;11:587-93.
3 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. Mol Vis. 2010 Aug 11;16:1585-92.
4 A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis. 2010 Jun 5;16:1019-24.
5 Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol. 2011 Mar;129(3):337-43. doi: 10.1001/archophthalmol.2011.11.
6 A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. Mol Vis. 2012;18:1874-80. Epub 2012 Jul 11.
7 Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44. doi: 10.1167/iovs.07-0013.
8 Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis. 2007 Oct 18;13:2019-22.