Details of Disease

General Information of Disease (ID: DISN0IHS)

• Disease Name: Cataract 20 multiple types
• Synonyms: cataract 20, multiple types; CRYGS cataract (disease); CTRCT20; cataract (disease) caused by mutation in CRYGS
• Definition: Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.
• Disease Hierarchy:
  DIS4VPS0: Early-onset non-syndromic cataract
  DISUD7SL: Cataract
  DISN0IHS: Cataract 20 multiple types
• Disease Identifiers:
  MONDO ID: MONDO_0007284
  MESH ID: D002386
  UMLS CUI: C0524524
  MedGen ID: 101117
  HPO ID: HP:0010922

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AKR1B1	TTFBNVI	Strong	Biomarker	[1]
ATM	TTKBM7V	Strong	Biomarker	[2]
CRYAA	TT8CWJG	Strong	Biomarker	[3]
CRYAB	TT7RUHB	Strong	Biomarker	[4]
CRYBB1	TTDS503	Strong	Biomarker	[5]
GJA8	TTJ7ATH	Strong	Biomarker	[6]
SLC33A1	TTL69WB	Strong	Biomarker	[7]
GJA3	TTFZRG0	Definitive	Genetic Variation	[8]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP2B1	DTJWQ1L	Strong	Biomarker	[9]
SLC4A4	DTWDEIL	Strong	Biomarker	[10]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GALK1	DE3OP9S	Strong	Biomarker	[11]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL2A1	OT5E59C8	moderate	Biomarker	[12]
ALDH3A1	OTAYZZE6	Strong	Biomarker	[13]
CRYGC	OTYSTQWI	Strong	Biomarker	[14]
CRYGD	OTW29JC4	Strong	Biomarker	[15]
ERCC6	OT2QZKSF	Strong	Biomarker	[16]
LIM2	OTK7R6HC	Strong	Biomarker	[17]
NDRG2	OT5L6KD7	Strong	Biomarker	[18]
PAX6	OTOC9876	Strong	Biomarker	[19]
PITX3	OTE2KT8P	Strong	Biomarker	[20]
CRYGS	OTF5XS0C	Definitive	Autosomal dominant	[21]
MIP	OTEBLU3E	Definitive	Biomarker	[22]
TDRD7	OTK639ET	Definitive	Biomarker	[23]

References

• [1] Influence of aldose reductase on epithelial-to-mesenchymal transition signaling in lens epithelial cells.Chem Biol Interact. 2017 Oct 1;276:149-154. doi: 10.1016/j.cbi.2017.01.017. Epub 2017 Jan 27.
• [2] The relative biological effectiveness of densely ionizing heavy-ion radiation for inducing ocular cataracts in wild type versus mice heterozygous for the ATM gene.Radiat Environ Biophys. 2006 Jul;45(2):99-104. doi: 10.1007/s00411-006-0052-5. Epub 2006 Jun 24.
• [3] Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.Hum Mol Genet. 1998 Mar;7(3):471-4. doi: 10.1093/hmg/7.3.471.
• [4] Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet. 2001 Nov;69(5):1141-5. doi: 10.1086/324158. Epub 2001 Sep 27.
• [5] A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002 Nov;71(5):1216-21. doi: 10.1086/344212. Epub 2002 Oct 1.
• [6] A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762.
• [7] Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
• [8] Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.Ophthalmic Genet. 2018 Jun;39(3):344-352. doi: 10.1080/13816810.2018.1436184. Epub 2018 Feb 20.
• [9] Changes in plasma membrane Ca2+ -ATPase expression and ATP content in lenses of hereditary cataract UPL rats.Toxicology. 2004 Apr 15;197(2):177-83. doi: 10.1016/j.tox.2004.01.002.
• [10] G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. Am J Physiol Renal Physiol. 2008 Sep;295(3):F633-41. doi: 10.1152/ajprenal.00015.2008. Epub 2008 Jul 9.
• [11] Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.Nat Genet. 1995 Jul;10(3):307-12. doi: 10.1038/ng0795-307.
• [12] Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).Am J Hum Genet. 1993 Jul;53(1):55-61.
• [13] Corneal haze phenotype in Aldh3a1-null mice: Invivo confocal microscopy and tissue imaging mass spectrometry.Chem Biol Interact. 2017 Oct 1;276:9-14. doi: 10.1016/j.cbi.2016.12.017. Epub 2016 Dec 27.
• [14] A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse.Invest Ophthalmol Vis Sci. 2002 Jan;43(1):236-40.
• [15] Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation. J Biol Chem. 2018 Nov 16;293(46):17997-18009. doi: 10.1074/jbc.RA118.004551. Epub 2018 Sep 21.
• [16] Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.J Med Genet. 2008 Sep;45(9):564-71. doi: 10.1136/jmg.2007.057141. Epub 2008 Jul 15.
• [17] A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.Am J Hum Genet. 2002 May;70(5):1363-7. doi: 10.1086/340318. Epub 2002 Mar 26.
• [18] Up-regulation of NDRG2 in senescent lens epithelial cells contributes to age-related cataract in human. PLoS One. 2011;6(10):e26102. doi: 10.1371/journal.pone.0026102. Epub 2011 Oct 17.
• [19] Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.Mol Med Rep. 2018 Nov;18(5):4439-4445. doi: 10.3892/mmr.2018.9469. Epub 2018 Sep 10.
• [20] Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80. doi: 10.1167/iovs.05-1095.
• [21] Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis. 2011;17:2197-206. Epub 2011 Aug 16.
• [22] Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538.
• [23] Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970.