MCID: PST016
MIFTS: 27

Posterior Polar Cataract malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Posterior Polar Cataract

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Sources:
9Disease Ontology, 11DISEASES, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Posterior Polar Cataract, Aliases & Descriptions:

Name: Posterior Polar Cataract 9 11 47
Posterior Subcapsular Cataract 47 60
 
Cataract, Posterior Polar 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

47
posterior polar cataract:
Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050537
Orphanet47 98993
ICD10 via Orphanet26 Q12.0

Summaries for Posterior Polar Cataract

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MalaCards based summary: Posterior Polar Cataract, also known as posterior subcapsular cataract, is related to cataract and anterior segment mesenchymal dysgenesis. An important gene associated with Posterior Polar Cataract is CRYAB (crystallin, alpha B). Affiliated tissues include eye, and related mouse phenotypes are skeleton and vision/eye.

Related Diseases for Posterior Polar Cataract

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Graphical network of the top 20 diseases related to Posterior Polar Cataract:



Diseases related to posterior polar cataract

Symptoms for Posterior Polar Cataract

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Drugs & Therapeutics for Posterior Polar Cataract

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Drug clinical trials:

Search ClinicalTrials for Posterior Polar Cataract

Search NIH Clinical Center for Posterior Polar Cataract

Genetic Tests for Posterior Polar Cataract

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Anatomical Context for Posterior Polar Cataract

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MalaCards organs/tissues related to Posterior Polar Cataract:

31
Eye

Animal Models for Posterior Polar Cataract or affiliated genes

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MGI Mouse Phenotypes related to Posterior Polar Cataract:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9PITX3, EPHA2, MAFB, CRYAB
2MP:00053917.7PITX3, EPHA2, BFSP1, CRYBA1, CRYAB, GJA3

Publications for Posterior Polar Cataract

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Articles related to Posterior Polar Cataract:

(show all 49)
idTitleAuthorsYear
1
Anterior segment optical coherence tomography for demonstrating posterior capsular rent in posterior polar cataract. (24453477)
2014
2
A nonsense mutation of I^D-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family. (24465161)
2014
3
Pre-surround division technique: precise cracks surrounding the posterior opacity prior to phacoemulsification in posterior polar cataract surgery. (25442881)
2014
4
Application of anterior segment optical coherence tomography to identify eyes with posterior polar cataract at high risk for posterior capsule rupture. (25465687)
2014
5
Posterior polar cataract: A review. (23960967)
2012
6
Phacoemulsification in eyes with posterior polar cataract. (22920002)
2012
7
Approaches to a posterior polar cataract. (23960968)
2012
8
A new locus in chromosome 2q37-qter is associated with posterior polar cataract. (21881846)
2012
9
Surgical approaches to posterior polar cataract: a review. (22441026)
2012
10
Oval capsulorhexis for phacoemulsification in posterior polar cataract with preexisting posterior capsule rupture. (21700098)
2011
11
The complications during phacoemulsification in patients with posterior polar cataract. (21853943)
2011
12
Modified technique for epinucleus removal in posterior polar cataract. (21053813)
2011
13
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. (21633712)
2011
14
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. (21681855)
2011
15
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. (20142846)
2010
16
Inverse horse-shoe technique for the phacoemulsification of posterior polar cataract. (20379301)
2010
17
Phacoemulsification in posterior polar cataract: does size of lens opacity affect surgical outcome? (20572822)
2010
18
Posterior polar cataract surgery: a posterior segment approach. (18989342)
2009
19
Modified epinucleus pre-chop for the dense posterior polar cataract. (18435348)
2008
20
Posterior polar cataract surgery - a posterior segment approach. (17332769)
2008
21
'Layer by layer' phacoemulsification in posterior polar cataract with pre-existing posterior capsular rent. (17417622)
2008
22
Surgical and visual outcomes for posterior polar cataract. (18728051)
2008
23
Managing the hard posterior polar cataract. (18361960)
2008
24
Bilateral spontaneous rupture of posterior capsule in posterior polar cataract. (19128390)
2008
25
Phacoemulsification with viscodissection in posterior polar cataract: minimizing risk of posterior capsule tear. (17984504)
2007
26
Posterior polar cataract: minimizing risk of posterior capsule rupture. (17304262)
2007
27
Spontaneous dislocation of posterior polar cataract. (17662445)
2007
28
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. (16565358)
2006
29
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. (17047090)
2006
30
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. (16877416)
2006
31
Posterior polar cataract: minimizing risk of posterior capsule rupture. (16254595)
2006
32
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. (15665340)
2005
33
Posterior polar cataract: genetic analysis of a large family. (16272057)
2005
34
The management of posterior polar cataract: the role of patching and grading. (16361185)
2005
35
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). (15286169)
2004
36
Outcomes of surgery for posterior polar cataract. (12551666)
2003
37
Management of posterior polar cataract. (12551661)
2003
38
Theoretical considerations regarding the study "Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans". (12227334)
2002
39
Minimizing risk to the capsule during surgery for posterior polar cataract. (11978449)
2002
40
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. (11577372)
2001
41
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. (10909854)
2000
42
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. (10682967)
2000
43
Phacoemulsification in eyes with posterior polar cataract. (9951671)
1999
44
A locus for autosomal dominant posterior polar cataract on chromosome 1p. (9002669)
1997
45
Hereditary posterior polar cataract. (13364188)
1956
46
A case of familial dwarfism, with choroideremia, myopia, posterior polar cataract, and zonular cataract. (13388265)
1956
47
Hereditary posterior polar cataract with report of a pedigree. (14389647)
1955
48
Cyst in the vitreous and posterior polar cataract in retinitis pigmentosa. (20281867)
1946
49
Hereditary Posterior Polar Cataract, with Report of a Pedigree. (16692353)
1915

Variations for Posterior Polar Cataract

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Clinvar genetic disease variations for Posterior Polar Cataract:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CHMP4BNM_176812.4(CHMP4B): c.386A> T (p.Asp129Val)single nucleotide variantPathogenicrs118203965GRCh37Chr 20, 32438775: 32438775
2CHMP4BNM_176812.4(CHMP4B): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs118203966GRCh37Chr 20, 32438870: 32438870
3EPHA2NM_004431.3(EPHA2): c.2842G> T (p.Gly948Trp)single nucleotide variantPathogenicrs137853199GRCh37Chr 1, 16451799: 16451799
4EPHA2NM_004431.3(EPHA2): c.2819C> T (p.Thr940Ile)single nucleotide variantPathogenicrs137853200GRCh37Chr 1, 16455935: 16455935
5EPHA2EPHA2, 2-BP DEL, 2915TGdeletionPathogenic
6EPHA2EPHA2, IVS16, G-A, -9single nucleotide variantPathogenic
7CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic
8GJA3NM_021954.3(GJA3): c.188A> G (p.Asn63Ser)single nucleotide variantPathogenicrs121917823GRCh37Chr 13, 20717240: 20717240
9GJA3GJA3, 1-BP INS, 1137CinsertionPathogenic
10GJA3NM_021954.3(GJA3): c.560C> T (p.Pro187Leu)single nucleotide variantPathogenicrs121917825GRCh37Chr 13, 20716868: 20716868
11GJA3NM_021954.3(GJA3): c.227G> A (p.Arg76His)single nucleotide variantPathogenicrs121917827GRCh37Chr 13, 20717201: 20717201
12CRYABNM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)single nucleotide variantPathogenicrs387907336GRCh37Chr 11, 111779598: 111779598
13CRYABNM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)single nucleotide variantPathogenicrs387907337GRCh37Chr 11, 111782391: 111782391
14CRYABNM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)single nucleotide variantPathogenicrs387907338GRCh37Chr 11, 111782283: 111782283
15GJA3NM_021954.3(GJA3): c.563A> C (p.Asn188Thr)single nucleotide variantPathogenicrs140332366GRCh37Chr 13, 20716865: 20716865
16GJA3NM_021954.3(GJA3): c.5G> A (p.Gly2Asp)single nucleotide variantPathogenicrs397514703GRCh37Chr 13, 20717423: 20717423
17GJA3NM_021954.3(GJA3): c.563A> T (p.Asn188Ile)single nucleotide variantPathogenicrs140332366GRCh37Chr 13, 20716865: 20716865
18GJA3NM_021954.3(GJA3): c.616T> A (p.Phe206Ile)single nucleotide variantPathogenicrs397514704GRCh37Chr 13, 20716812: 20716812
19GJA3NM_021954.3(GJA3): c.427G> A (p.Gly143Arg)single nucleotide variantPathogenicrs398122937GRCh37Chr 13, 20717001: 20717001

Expression for genes affiliated with Posterior Polar Cataract

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Search GEO for disease gene expression data for Posterior Polar Cataract.

Pathways for genes affiliated with Posterior Polar Cataract

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Compounds for genes affiliated with Posterior Polar Cataract

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GO Terms for genes affiliated with Posterior Polar Cataract

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Biological processes related to Posterior Polar Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lens development in camera-type eyeGO:00020889.3CRYAB, CRYBA1, PITX3

Molecular functions related to Posterior Polar Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052129.1CRYAB, CRYBA1, BFSP1

Products for genes affiliated with Posterior Polar Cataract

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  • Antibodies
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  • Proteins
  • Kits and Assays

Sources for Posterior Polar Cataract

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet