Details of Disease

General Information of Disease (ID: DISGIHUY)

Disease Name Early-onset nuclear cataract
Disease Hierarchy
DIS6XW87: Early-onset zonular cataract
DISGIHUY: Early-onset nuclear cataract
Disease Identifiers
MONDO ID
MONDO_0020376
UMLS CUI
C5681644
MedGen ID
1842550
Orphanet ID
98991

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 18 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UNC45B OTYKQ9O5 Supportive Autosomal dominant [1]
WFS1 OTYF2UYI Supportive Autosomal dominant [2]
BFSP1 OTXZ3YIU Supportive Autosomal dominant [8]
CRYAA OTSN7JUR Supportive Autosomal dominant [3]
CRYAB OTY4JGYU Supportive Autosomal dominant [9]
CRYBA1 OT8617WJ Supportive Autosomal dominant [10]
CRYBA2 OT46U1WM Supportive Autosomal dominant [11]
CRYBB1 OTDI4W3V Supportive Autosomal dominant [4]
CRYBB2 OTL0Z8E6 Supportive Autosomal dominant [12]
CRYBB3 OTTGTQIQ Supportive Autosomal dominant [11]
CRYGC OTYSTQWI Supportive Autosomal dominant [13]
CRYGD OTW29JC4 Supportive Autosomal dominant [14]
EPHA2 OTI6QNX2 Supportive Autosomal dominant [5]
FYCO1 OTKZHTZ5 Supportive Autosomal dominant [15]
GJA3 OTXV6ETF Supportive Autosomal dominant [6]
GJA8 OTZCPRKD Supportive Autosomal dominant [7]
MIP OTEBLU3E Supportive Autosomal dominant [16]
NHS OTKE8QAT Supportive Autosomal dominant [17]
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⏷ Show the Full List of 18 DOT(s)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRYAA TT8CWJG Supportive Autosomal dominant [3]
CRYBB1 TTDS503 Supportive Autosomal dominant [4]
EPHA2 TTRJB2G Supportive Autosomal dominant [5]
GJA3 TTFZRG0 Supportive Autosomal dominant [6]
GJA8 TTJ7ATH Supportive Autosomal dominant [7]
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References

1 The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Eur J Hum Genet. 2014 Nov;22(11):1290-7. doi: 10.1038/ejhg.2014.21. Epub 2014 Feb 19.
2 Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet. 2013 Dec;21(12):1356-60. doi: 10.1038/ejhg.2013.52. Epub 2013 Mar 27.
3 Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis. 2009;15:793-800. Epub 2009 Apr 17.
4 A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. Mol Vis. 2008 Apr 18;14:727-31.
5 Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. PLoS One. 2013 Aug 27;8(8):e72518. doi: 10.1371/journal.pone.0072518. eCollection 2013.
6 Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. Br J Ophthalmol. 2005 Nov;89(11):1535-7. doi: 10.1136/bjo.2005.075184.
7 A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet. 2003 Nov;40(11):e124. doi: 10.1136/jmg.40.11.e124.
8 A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis. 2013 Dec 27;19:2590-5. eCollection 2013.
9 A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis. 2009 Jul 10;15:1359-65.
10 A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. Mol Vis. 2011;17:1559-63. Epub 2011 Jun 9.
11 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19.
12 Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2. Mol Vis. 2009 Jul 30;15:1470-5.
13 A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis. 2008 Jul 9;14:1272-6.
14 A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. Hum Mutat. 2011 Jan;32(1):E1939-47. doi: 10.1002/humu.21386.
15 Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008.
16 A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family. Mol Vis. 2011 Jan 8;17:70-7.
17 X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4.