Details of Disease | DrugMAP

General Information of Disease (ID: DISR7WXX)

Disease Name	Early-onset lamellar cataract
Disease Hierarchy	DIS6W7YF: Cataract 16 multiple types DISR7WXX: Early-onset lamellar cataract
Disease Identifiers	MONDO ID MONDO_0018611 UMLS CUI C5681191 MedGen ID 1843303 Orphanet ID 441452

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
CRYAA	TT8CWJG	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BFSP2	OT3QREFR	Supportive	Autosomal dominant	[2]
CRYAA	OTSN7JUR	Supportive	Autosomal dominant	[1]
CRYAB	OTY4JGYU	Supportive	Autosomal dominant	[3]
CRYBA1	OT8617WJ	Supportive	Autosomal dominant	[4]
CRYBA4	OTQJ5XGE	Supportive	Autosomal dominant	[5]
CRYGB	OTU4GEMD	Supportive	Autosomal dominant	[6]
CRYGC	OTYSTQWI	Supportive	Autosomal dominant	[7]
CRYGD	OTW29JC4	Supportive	Autosomal dominant	[7]
CRYGS	OTF5XS0C	Supportive	Autosomal dominant	[8]
HSF4	OT1UX9SK	Supportive	Autosomal dominant	[9]
MIP	OTEBLU3E	Supportive	Autosomal dominant	[10]
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⏷ Show the Full List of 11 DOT(s)

References

1	Identification of a novel oligomerization disrupting mutation in CRYA associated with congenital cataract in a South Australian family. Hum Mutat. 2013 Mar;34(3):435-8. doi: 10.1002/humu.22260. Epub 2013 Jan 17.
2	A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet. 2000 Apr;66(4):1426-31. doi: 10.1086/302871. Epub 2000 Mar 22.
3	A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1069-75. doi: 10.1167/iovs.05-1004.
4	Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum Mol Genet. 2004 May 1;13(9):945-53. doi: 10.1093/hmg/ddh110. Epub 2004 Mar 11.
5	CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006 Oct;79(4):702-9. doi: 10.1086/507712. Epub 2006 Aug 17.
6	Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. Mol Vis. 2012;18:2931-6. Epub 2012 Dec 9.
7	Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. J Med Genet. 2002 May;39(5):352-8. doi: 10.1136/jmg.39.5.352.
8	Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008 Jun 16;14:1157-70.
9	Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet. 2002 Jul;31(3):276-8. doi: 10.1038/ng921. Epub 2002 Jun 24.
10	An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. Exp Eye Res. 2013 May;110:136-41. doi: 10.1016/j.exer.2012.10.010. Epub 2012 Oct 29.