Details of Disease

Disease Name

Early-onset posterior polar cataract

Disease Hierarchy

DIS6W7YF: Cataract 16 multiple types

DISJFK9W: Early-onset posterior polar cataract

Disease Identifiers

MONDO ID

MONDO_0020378

UMLS CUI

C0858617

MedGen ID

163646

HPO ID

HP:0007787

Orphanet ID

98993

SNOMED CT ID

315353005

General Information of Disease (ID: DISJFK9W)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRYAB	TT7RUHB	Limited	GermlineCausalMutation	[1]
EPHA2	TTRJB2G	Limited	Genetic Variation	[2]
CHMP4B	TT09EZF	Supportive	Autosomal dominant	[3]
EPHA2	TTRJB2G	Supportive	Autosomal dominant	[4]
GJA3	TTFZRG0	Supportive	Autosomal dominant	[5]
CHMP4B	TT09EZF	Strong	GermlineCausalMutation	[3]
GJA3	TTFZRG0	Strong	GermlineCausalMutation	[5]
LSS	TT7O8ZA	Strong	Biomarker	[6]
NUCB1	TT6A5ZL	Strong	Biomarker	[7]
PNPLA3	TTEUAEH	Strong	Genetic Variation	[8]
TM6SF2	TTE1OHM	Strong	Genetic Variation	[8]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHMP4B	OT854ZK7	Supportive	Autosomal dominant	[3]
CRYAB	OTY4JGYU	Supportive	Autosomal dominant	[9]
CRYBA1	OT8617WJ	Supportive	Autosomal dominant	[10]
EPHA2	OTI6QNX2	Supportive	Autosomal dominant	[4]
GJA3	OTXV6ETF	Supportive	Autosomal dominant	[5]
MIP	OTEBLU3E	Supportive	Autosomal dominant	[11]
PANK4	OTMLNEPU	Supportive	Autosomal dominant	[12]
PITX3	OTE2KT8P	Supportive	Autosomal dominant	[13]
ACAD8	OT3JI5GB	moderate	Biomarker	[14]
CRYBB2	OTL0Z8E6	Strong	Genetic Variation	[15]
DCT	OTYVNTBG	Strong	Biomarker	[16]
HSF4	OT1UX9SK	Strong	Biomarker	[17]
LAMA3	OTFME7HT	Strong	Biomarker	[18]
RLN2	OTY3OG71	Strong	Biomarker	[19]
STATH	OTQHBHM9	Strong	Genetic Variation	[3]
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⏷ Show the Full List of 15 DOT(s)

References

1	A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.BMC Ophthalmol. 2014 Sep 8;14:108. doi: 10.1186/1471-2415-14-108.
2	A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4717-4726. doi: 10.1167/iovs.19-27370.
3	CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007 Sep;81(3):596-606. doi: 10.1086/519980. Epub 2007 Jul 27.
4	Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009 May;30(5):E603-11. doi: 10.1002/humu.20995.
5	Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Mol Vis. 2010 Sep 10;16:1837-47.
6	Tumor suppressor gene, cell surface adhesion molecule, and multidrug resistance in Mllerian serous carcinomas: clinical divergence without immunophenotypic differences.Gynecol Oncol. 2000 Dec;79(3):430-7. doi: 10.1006/gyno.2000.6000.
7	Amyloid 1-43 Accumulates in the Lens Epithelium of Cortical Opacification in Japanese Patients.Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3294-3302. doi: 10.1167/iovs.17-22065.
8	PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC.PLoS One. 2018 Aug 30;13(8):e0202942. doi: 10.1371/journal.pone.0202942. eCollection 2018.
9	Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6. doi: 10.1167/iovs.05-1438.
10	A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis. 2010 Feb 5;16:154-60.
11	A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family. PLoS One. 2015 Mar 24;10(3):e0119296. doi: 10.1371/journal.pone.0119296. eCollection 2015.
12	A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Hum Mutat. 2019 Apr;40(4):380-391. doi: 10.1002/humu.23696. Epub 2019 Jan 23.
13	The PITX3 gene in posterior polar congenital cataract in Australia. Mol Vis. 2006 Apr 18;12:367-71.
14	Vedolizumab Therapy is Ineffective for Primary Sclerosing Cholangitis in Patients With Inflammatory Bowel Disease: A GETAID Multicentre Cohort Study.J Crohns Colitis. 2019 Sep 27;13(10):1239-1247. doi: 10.1093/ecco-jcc/jjz088.
15	Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family. Mol Vis. 2011 Jan 13;17:144-52.
16	Development and characterization of naive single-type tumor antigen-specific CD8(+) T lymphocytes from murine pluripotent stem cells.Oncoimmunology. 2017 May 30;6(7):e1334027. doi: 10.1080/2162402X.2017.1334027. eCollection 2017.
17	Copy number variations of DNA repair genes and the age-related cataract: Jiangsu Eye Study.Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):932-8. doi: 10.1167/iovs.12-10948.
18	The Lens Opacities Classification System III Grading in Irradiated Uveal Melanomas to Characterize Proton Therapy-Induced Cataracts.Am J Ophthalmol. 2019 May;201:63-71. doi: 10.1016/j.ajo.2019.01.025. Epub 2019 Feb 2.
19	Nano-targeted relaxin impairs fibrosis and tumor growth in pancreatic cancer and improves the efficacy of gemcitabine in vivo.J Control Release. 2018 Nov 28;290:1-10. doi: 10.1016/j.jconrel.2018.09.031. Epub 2018 Oct 2.