Details of Disease

General Information of Disease (ID: DISKFS14)

Disease Name Early-onset sutural cataract
Synonyms early-onset cataract with Y-shaped suture opacities
Disease Hierarchy
DIS6XW87: Early-onset zonular cataract
DISKFS14: Early-onset sutural cataract

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJA8 TTJ7ATH Supportive Autosomal dominant [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BFSP2 OT3QREFR Supportive Autosomal dominant [2]
CRYBA1 OT8617WJ Supportive Autosomal dominant [3]
CRYBB2 OTL0Z8E6 Supportive Autosomal dominant [4]
CRYGS OTF5XS0C Supportive Autosomal dominant [5]
GJA8 OTZCPRKD Supportive Autosomal dominant [1]
MIP OTEBLU3E Supportive Autosomal dominant [6]
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⏷ Show the Full List of 6 DOT(s)

References

1 A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. Mol Vis. 2008 Jun 17;14:1171-5.
2 Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. Mol Vis. 2006 Dec 20;12:1626-31.
3 Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis. 1998 Oct 23;4:21.
4 A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet. 2001 Jun;38(6):392-6. doi: 10.1136/jmg.38.6.392.
5 Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008 Jun 16;14:1157-70.
6 A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. Mol Vis. 2010 Mar 25;16:534-9.