Details of Disease

General Information of Disease (ID: DISTOPIY)

• Disease Name: Early-onset anterior polar cataract
• Synonyms: cataract anterior polar; early-onset anterior subcapsular cataract
• Disease Hierarchy:
  DISQWNAO: Early-onset partial cataract
  DISTOPIY: Early-onset anterior polar cataract
• Disease Identifiers:
  MONDO ID: MONDO_0020373
  MESH ID: C538282
  UMLS CUI: C1855179
  MedGen ID: 340806
  HPO ID: HP:0001134
  Orphanet ID: 98988

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EPHA6	TTFAHWI	Limited	Altered Expression	[1]
CRYAA	TT8CWJG	Supportive	Autosomal dominant	[2]
NPEPPS	TT371QC	moderate	Biomarker	[3]
CRYAA	TT8CWJG	Strong	GermlineCausalMutation	[2]
KLK3	TTS78AZ	Strong	Biomarker	[4]
SFTPD	TTGLMU7	Strong	Altered Expression	[5]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ANXA11	DTGQ2CF	Strong	Biomarker	[6]
SLC2A10	DT3BI6S	Strong	Biomarker	[7]
SLC9A6	DTN0JXW	Strong	Genetic Variation	[8]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	moderate	Biomarker	[3]

This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRYAA	OTSN7JUR	Supportive	Autosomal dominant	[2]
CRYBA2	OT46U1WM	Supportive	Autosomal dominant	[9]
CRYBB3	OTTGTQIQ	Supportive	Autosomal dominant	[9]
CRYGB	OTU4GEMD	Supportive	Autosomal dominant	[10]
BTBD8	OT3A3RD7	moderate	Altered Expression	[11]
CCL18	OT7JYSK9	moderate	Altered Expression	[12]
PLAG1	OTT9AJQY	moderate	Biomarker	[3]
AK6	OT84OHHP	Strong	Biomarker	[13]
COL4A5	OTHG60RE	Strong	Biomarker	[7]
CRIP3	OT7H1YOY	Strong	Altered Expression	[14]
CSRP3	OTECBJMV	Strong	Altered Expression	[14]
DCD	OTV5PBGJ	Strong	Biomarker	[15]
MLIP	OTMT7AII	Strong	Biomarker	[13]
RNGTT	OT59E0KX	Strong	Biomarker	[15]
SDC4	OTKUVUGZ	Strong	Biomarker	[16]
SFTPA2	OT6SFOMU	Strong	Genetic Variation	[17]
SFTPB	OTOHS07E	Strong	Altered Expression	[18]
SLC7A4	OTAVC6QS	Strong	Genetic Variation	[19]
SMC3	OTWGFRHD	Strong	Biomarker	[15]
SPATS2L	OTFO07H8	Strong	Altered Expression	[20]
TMCO3	OTYW1KP2	Strong	Genetic Variation	[21]
GABARAPL1	OT4U7SBG	Definitive	Altered Expression	[22]

References

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• [2] Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Mol Vis. 2011;17:2693-7. Epub 2011 Oct 15.
• [3] Cross-sectional study evaluating data quality of the National Cancer Registration and Analysis Service (NCRAS) prostate cancer registry data using the Cluster randomised trial of PSA testing for Prostate cancer (CAP).BMJ Open. 2017 Nov 14;7(11):e015994. doi: 10.1136/bmjopen-2017-015994.
• [4] Combining urinary DNA methylation and cell-free microRNA biomarkers for improved monitoring of prostate cancer patients on active surveillance.Urol Oncol. 2019 May;37(5):297.e9-297.e17. doi: 10.1016/j.urolonc.2019.01.031. Epub 2019 Feb 16.
• [5] YKL-40, CCL18 and SP-D predict mortality in patients hospitalized with community-acquired pneumonia.Respirology. 2017 Apr;22(3):542-550. doi: 10.1111/resp.12924. Epub 2016 Oct 26.
• [6] The effect of captopril on lipopolysaccharide-induced lung inflammation.Exp Lung Res. 2018 May-Jun;44(4-5):191-200. doi: 10.1080/01902148.2018.1473530. Epub 2018 May 30.
• [7] Scored minor criteria for severe community-acquired pneumonia predicted better.Respir Res. 2019 Jan 31;20(1):22. doi: 10.1186/s12931-019-0991-4.
• [8] Community-acquired, methicillin-resistant Staphylococcus aureus isolated from children with community-onset pneumonia in China.Pediatr Pulmonol. 2010 Apr;45(4):387-94. doi: 10.1002/ppul.21202.
• [9] 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.
• [10] 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.
• [11] Lower long-term mortality in obese patients with community-acquired pneumonia: possible role of CRP.Clinics (Sao Paulo). 2019;74:e608. doi: 10.6061/clinics/2019/e608. Epub 2019 Jul 10.
• [12] Course of SP-D, YKL-40, CCL18 and CA 15-3 in adult patients hospitalised with community-acquired pneumonia and their association with disease severity and aetiology: A post-hoc analysis.PLoS One. 2018 Jan 11;13(1):e0190575. doi: 10.1371/journal.pone.0190575. eCollection 2018.
• [13] The changing epidemiology of community-acquired pneumonia: nationwide register-based study in Sweden.J Intern Med. 2019 Dec;286(6):689-701. doi: 10.1111/joim.12956. Epub 2019 Aug 13.
• [14] The moderate predictive value of serial serum CRP and PCT levels for the prognosis of hospitalized community-acquired pneumonia.Respir Res. 2018 Oct 1;19(1):193. doi: 10.1186/s12931-018-0877-x.
• [15] Rates of hospitalization for community-acquired pneumonia among US adults: A systematic review.Vaccine. 2020 Jan 22;38(4):741-751. doi: 10.1016/j.vaccine.2019.10.101. Epub 2019 Dec 13.
• [16] Serum suPAR and syndecan-4 levels predict severity of community-acquired pneumonia: a prospective, multi-centre study.Crit Care. 2018 Jan 24;22(1):15. doi: 10.1186/s13054-018-1943-y.
• [17] Influence of genetic variability at the surfactant proteins A and D in community-acquired pneumonia: a prospective, observational, genetic study.Crit Care. 2011;15(1):R57. doi: 10.1186/cc10030. Epub 2011 Feb 10.
• [18] Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).Clin Genet. 2000 May;57(5):359-69. doi: 10.1034/j.1399-0004.2000.570506.x.
• [19] The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion.Mamm Genome. 1997 Jun;8(6):403-6. doi: 10.1007/s003359900456.
• [20] Sleep quality, BDNF genotype and gene expression in individuals with chronic abdominal pain.BMC Med Genomics. 2014 Oct 31;7:61. doi: 10.1186/s12920-014-0061-1.
• [21] Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract.Sci Rep. 2016 Aug 3;6:31021. doi: 10.1038/srep31021.
• [22] GABARAPL1 suppresses metastasis by counteracting PI3K/Akt pathway in prostate cancer.Oncotarget. 2017 Jan 17;8(3):4449-4459. doi: 10.18632/oncotarget.13879.