Details of Disease | DrugMAP

General Information of Disease (ID: DISMJ2AH)

Disease Name	Pulverulent cataract
Synonyms	dusty cataract; Coppock-like cataract; pulverulent cataract
Definition	A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.
Disease Hierarchy	DIS4VPS0: Early-onset non-syndromic cataract DISMJ2AH: Pulverulent cataract
Disease Identifiers	MONDO ID MONDO_0011430 MESH ID C563426 UMLS CUI C1833118 MedGen ID 318793 HPO ID HP:0010693 Orphanet ID 98984 SNOMED CT ID 1003884001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VIM	OTGZLW4J	Supportive	Autosomal dominant	[1]
BFSP2	OT3QREFR	Supportive	Autosomal dominant	[5]
CRYBB1	OTDI4W3V	Supportive	Autosomal dominant	[3]
CRYBB2	OTL0Z8E6	Supportive	Autosomal dominant	[6]
CRYGC	OTYSTQWI	Supportive	Autosomal dominant	[7]
CRYGD	OTW29JC4	Supportive	Autosomal dominant	[8]
GJA3	OTXV6ETF	Supportive	Autosomal dominant	[4]
GJA8	OTZCPRKD	Supportive	Autosomal dominant	[2]
MAF	OT1GR3IZ	Supportive	Autosomal dominant	[9]
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⏷ Show the Full List of 9 DOT(s)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA8	TTJ7ATH	Limited	GermlineCausalMutation	[2]
CRYBB1	TTDS503	Supportive	Autosomal dominant	[3]
GJA3	TTFZRG0	Supportive	Autosomal dominant	[4]
GJA8	TTJ7ATH	Supportive	Autosomal dominant	[2]
CRYBB1	TTDS503	moderate	GermlineCausalMutation	[3]
GJA3	TTFZRG0	Strong	GermlineCausalMutation	[4]
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⏷ Show the Full List of 6 DTT(s)

References

1	Dominant cataract formation in association with a vimentin assembly disrupting mutation. Hum Mol Genet. 2009 Mar 15;18(6):1052-7. doi: 10.1093/hmg/ddn440. Epub 2009 Jan 6.
2	A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet. 2008 Mar;45(3):155-60. doi: 10.1136/jmg.2007.051029. Epub 2007 Nov 15.
3	Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol. 2012 May;96(5):650-5. doi: 10.1136/bjophthalmol-2011-301053. Epub 2012 Jan 19.
4	A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. Mol Vis. 2012;18:2114-8. Epub 2012 Jul 26.
5	A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. Curr Eye Res. 2014 Oct;39(10):1013-9. doi: 10.3109/02713683.2014.891749. Epub 2014 Mar 21.
6	Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):159-65.
7	A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet. 2000 May;106(5):531-7. doi: 10.1007/s004390000289.
8	Novel human CRYGD rare variant in a Brazilian family with congenital cataract. Mol Vis. 2011;17:2207-11. Epub 2011 Aug 16.
9	Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33.