MCID: PST016
MIFTS: 22

Posterior Polar Cataract

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Posterior Polar Cataract

MalaCards integrated aliases for Posterior Polar Cataract:

Name: Posterior Polar Cataract 12 29 6 15
Cataract, Posterior Polar 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:0050537

Summaries for Posterior Polar Cataract

MalaCards based summary : Posterior Polar Cataract, also known as cataract, posterior polar, is related to cataract 30, multiple types and cataract 16, multiple types. An important gene associated with Posterior Polar Cataract is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Posterior Polar Cataract

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



Diseases related to Posterior Polar Cataract

Symptoms & Phenotypes for Posterior Polar Cataract

MGI Mouse Phenotypes related to Posterior Polar Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 BFSP1 CRYAB CRYBA1 CRYGD GJA3 PITX3

Drugs & Therapeutics for Posterior Polar Cataract

Search Clinical Trials , NIH Clinical Center for Posterior Polar Cataract

Genetic Tests for Posterior Polar Cataract

Genetic tests related to Posterior Polar Cataract:

# Genetic test Affiliating Genes
1 Posterior Polar Cataract 29

Anatomical Context for Posterior Polar Cataract

MalaCards organs/tissues related to Posterior Polar Cataract:

41
Eye

Publications for Posterior Polar Cataract

Articles related to Posterior Polar Cataract:

(show top 50) (show all 57)
# Title Authors Year
1
Application of 25a88MHz B-Scan Ultrasonography to Determine the Integrity of the Posterior Capsule in Posterior Polar Cataract. ( 29785304 )
2018
2
Managing the posterior polar cataract: An update. ( 29208815 )
2017
3
Posterior polar cataract: Minimizing risks. ( 27546963 )
2016
4
Phacoemulsification in posterior polar cataract. ( 27626143 )
2016
5
Femtosecond Laser-assisted Cataract Surgery Technique to Enhance Safety in Posterior Polar Cataract. ( 26334779 )
2015
6
A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family. ( 25803033 )
2015
7
Pre-surround division technique: precise cracks surrounding the posterior opacity prior to phacoemulsification in posterior polar cataract surgery. ( 25442881 )
2014
8
A nonsense mutation of I^D-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family. ( 24465161 )
2014
9
Application of anterior segment optical coherence tomography to identify eyes with posterior polar cataract at high risk for posterior capsule rupture. ( 25465687 )
2014
10
Anterior segment optical coherence tomography for demonstrating posterior capsular rent in posterior polar cataract. ( 24453477 )
2014
11
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. ( 25195561 )
2014
12
Posterior polar cataract: A review. ( 23960967 )
2012
13
Surgical approaches to posterior polar cataract: a review. ( 22441026 )
2012
14
Approaches to a posterior polar cataract. ( 23960968 )
2012
15
Phacoemulsification in eyes with posterior polar cataract. ( 22920002 )
2012
16
A new locus in chromosome 2q37-qter is associated with posterior polar cataract. ( 21881846 )
2012
17
Oval capsulorhexis for phacoemulsification in posterior polar cataract with preexisting posterior capsule rupture. ( 21700098 )
2011
18
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. ( 21633712 )
2011
19
Modified technique for epinucleus removal in posterior polar cataract. ( 21053813 )
2011
20
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. ( 21681855 )
2011
21
The complications during phacoemulsification in patients with posterior polar cataract. ( 21853943 )
2011
22
Phacoemulsification in posterior polar cataract: does size of lens opacity affect surgical outcome? ( 20572822 )
2010
23
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. ( 20142846 )
2010
24
Inverse horse-shoe technique for the phacoemulsification of posterior polar cataract. ( 20379301 )
2010
25
Posterior polar cataract surgery: a posterior segment approach. ( 18989342 )
2009
26
Modified epinucleus pre-chop for the dense posterior polar cataract. ( 18435348 )
2008
27
Managing the hard posterior polar cataract. ( 18361960 )
2008
28
Surgical and visual outcomes for posterior polar cataract. ( 18728051 )
2008
29
'Layer by layer' phacoemulsification in posterior polar cataract with pre-existing posterior capsular rent. ( 17417622 )
2008
30
Bilateral spontaneous rupture of posterior capsule in posterior polar cataract. ( 19128390 )
2008
31
Posterior polar cataract surgery - a posterior segment approach. ( 17332769 )
2008
32
Management of the hard posterior polar cataract. ( 17720063 )
2007
33
Posterior polar cataract: minimizing risk of posterior capsule rupture. ( 17304262 )
2007
34
Phacoemulsification with viscodissection in posterior polar cataract: minimizing risk of posterior capsule tear. ( 17984504 )
2007
35
Spontaneous dislocation of posterior polar cataract. ( 17662445 )
2007
36
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. ( 16565358 )
2006
37
Posterior polar cataract: minimizing risk of posterior capsule rupture. ( 16254595 )
2006
38
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. ( 17047090 )
2006
39
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. ( 16877416 )
2006
40
Posterior polar cataract: genetic analysis of a large family. ( 16272057 )
2005
41
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. ( 15665340 )
2005
42
The management of posterior polar cataract: the role of patching and grading. ( 16361185 )
2005
43
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). ( 15286169 )
2004
44
Management of posterior polar cataract. ( 12551661 )
2003
45
Outcomes of surgery for posterior polar cataract. ( 12551666 )
2003
46
Minimizing risk to the capsule during surgery for posterior polar cataract. ( 11978449 )
2002
47
Theoretical considerations regarding the study "Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans". ( 12227334 )
2002
48
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. ( 11577372 )
2001
49
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. ( 10909854 )
2000
50
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. ( 10682967 )
2000

Variations for Posterior Polar Cataract

ClinVar genetic disease variations for Posterior Polar Cataract:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB NM_001885.2(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 GRCh37 Chromosome 11, 111782333: 111782333
2 CRYAB NM_001885.2(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 GRCh38 Chromosome 11, 111911609: 111911609
3 CRYAB NM_001885.2(CRYAB): c.*107A> G single nucleotide variant Uncertain significance rs886047686 GRCh37 Chromosome 11, 111779381: 111779381
4 CRYAB NM_001885.2(CRYAB): c.*107A> G single nucleotide variant Uncertain significance rs886047686 GRCh38 Chromosome 11, 111908657: 111908657
5 CRYAB NM_001885.2(CRYAB): c.*39T> C single nucleotide variant Uncertain significance rs782808506 GRCh37 Chromosome 11, 111779449: 111779449
6 CRYAB NM_001885.2(CRYAB): c.*39T> C single nucleotide variant Uncertain significance rs782808506 GRCh38 Chromosome 11, 111908725: 111908725
7 CRYAB NM_001885.2(CRYAB): c.102G> T (p.Glu34Asp) single nucleotide variant Uncertain significance rs886047688 GRCh37 Chromosome 11, 111782347: 111782347
8 CRYAB NM_001885.2(CRYAB): c.102G> T (p.Glu34Asp) single nucleotide variant Uncertain significance rs886047688 GRCh38 Chromosome 11, 111911623: 111911623
9 CRYAB NM_001885.2(CRYAB): c.375A> C (p.Pro125=) single nucleotide variant Uncertain significance rs886047687 GRCh37 Chromosome 11, 111779641: 111779641
10 CRYAB NM_001885.2(CRYAB): c.375A> C (p.Pro125=) single nucleotide variant Uncertain significance rs886047687 GRCh38 Chromosome 11, 111908917: 111908917
11 CRYAB NM_001885.2(CRYAB): c.*38G> C single nucleotide variant Uncertain significance rs781853968 GRCh37 Chromosome 11, 111779450: 111779450
12 CRYAB NM_001885.2(CRYAB): c.*38G> C single nucleotide variant Uncertain significance rs781853968 GRCh38 Chromosome 11, 111908726: 111908726
13 CRYAB NM_001885.2(CRYAB): c.-21C> T single nucleotide variant Benign/Likely benign rs376222434 GRCh37 Chromosome 11, 111782469: 111782469
14 CRYAB NM_001885.2(CRYAB): c.-21C> T single nucleotide variant Benign/Likely benign rs376222434 GRCh38 Chromosome 11, 111911745: 111911745

Expression for Posterior Polar Cataract

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

Pathways for Posterior Polar Cataract

GO Terms for Posterior Polar Cataract

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.33 CRYBA1 CRYGD GJA3
2 aging GO:0007568 9.26 CRYAB PITX3
3 lens fiber cell differentiation GO:0070306 8.96 CRYGD PITX3
4 lens development in camera-type eye GO:0002088 8.92 CRYAB CRYBA1 CRYGD PITX3

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.92 BFSP1 CRYAB CRYBA1 CRYGD

Sources for Posterior Polar Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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