MCID: PST016
MIFTS: 29

Posterior Polar Cataract

Categories: Eye diseases, Fetal diseases, Genetic 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:



External Ids:

Disease Ontology 12 DOID:0050537

Summaries for Posterior Polar Cataract

Disease Ontology : 12 A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.

MalaCards based summary : Posterior Polar Cataract, also known as cataract, posterior polar, is related to cataract 16, multiple types and cataract 11, 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

Diseases in the Posterior Polar Cataract family:

Early-Onset Anterior Polar Cataract Early-Onset Posterior Polar Cataract

Diseases related to Posterior Polar Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 cataract 16, multiple types 33.3 CRYBA1 CRYAB CRYAA CHMP4B
2 cataract 11, multiple types 33.3 PITX3 CRYBA1 CRYAA CHMP4B
3 early-onset posterior polar cataract 33.2 PITX3 GJA3 EPHA2 CRYBA1 CRYAB CHMP4B
4 cataract 6, multiple types 33.2 EPHA2 CRYBA1 CRYAA CHMP4B
5 cataract 32, multiple types 32.7 CRYBA1 CRYAA CHMP4B
6 cataract 31, multiple types 32.5 CRYBA1 CRYAA CHMP4B BFSP1
7 cataract 30, multiple types 31.5 GJA3 CRYGD CRYBB2 BFSP2
8 amblyopia 27.8 PITX3 GJA3 CRYGS CRYBB2 CRYAA CHMP4B
9 lens disease 27.0 PITX3 GJA3 CRYGS CRYBB2 CRYBA1 CRYAB
10 cataract 26.0 PITX3 HSF4 GJA3 EPHA2 CRYGS CRYGD
11 suppression amblyopia 10.4
12 corticobasal degeneration 10.3 PITX3 CRYAB
13 early-onset non-syndromic cataract 10.3
14 leukocoria 10.2 CRYBA1 CRYAA
15 hallermann-streiff syndrome 10.2 GJA3 CRYAA
16 anterior segment dysgenesis 1 10.2
17 retinal detachment 10.2
18 macular degeneration, age-related, 1 10.2
19 cataract 1, multiple types 10.2 GJA3 CRYAA
20 axenfeld-rieger syndrome, type 1 10.1 PITX3 CRYAA
21 retinitis pigmentosa 10.1
22 neuroretinitis 10.1
23 retinitis 10.1
24 macular retinal edema 10.1
25 early-onset zonular cataract 10.1
26 early-onset partial cataract 10.1
27 cerulean cataract 10.1 CRYGD CRYBB2
28 cataract 9, multiple types 10.0 CRYBB2 CRYAA
29 morgagni cataract 10.0 CRYGA CRYAA
30 scleral staphyloma 10.0 CRYGA CRYAA
31 lens subluxation 10.0 CRYAA BFSP1
32 disuse amblyopia 10.0 PITX3 CRYAA CHMP4B
33 iris disease 9.9 PITX3 CRYAA
34 strabismus 9.9
35 choroideremia 9.9
36 yemenite deaf-blind hypopigmentation syndrome 9.9
37 cataract 14, multiple types 9.9
38 chops syndrome 9.9
39 persistent hyperplastic primary vitreous 9.9
40 microphthalmia 9.9
41 myopia 9.9
42 uveitis 9.9
43 mechanical strabismus 9.9
44 pathologic nystagmus 9.9
45 dwarfism 9.9
46 early-onset posterior subcapsular cataract 9.9 EPHA2 CRYBB2 CHMP4B
47 nuclear senile cataract 9.8 CRYGS CRYGD
48 mal de meleda 9.8 HSF4 CRYAA
49 cataract microcornea syndrome 9.8 CRYGD CRYBB2 CRYAA
50 alexander disease 9.8 CRYAB CRYAA

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 BFSP1 BFSP2 CRYAB CRYBA1 CRYBB2 CRYGA

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:

40
Eye

Publications for Posterior Polar Cataract

Articles related to Posterior Polar Cataract:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Reopacification of posterior capsular opening after ND: YAG capsulotomy: 2 cases with the different presentation. 61
31915740 2019
2
Using preoperative anterior segment optical coherence tomography to highly predict posterior capsule dehiscence in posterior polar cataract with simple image adjustments. 61
31030792 2019
3
Phacoemulsification of posterior polar cataracts. 61
30704728 2019
4
Straylight in posterior polar cataract. 61
30391156 2019
5
Can preoperative anterior segment optical coherence tomography predict posterior capsule rupture during phacoemulsification in patients with posterior polar cataract? 61
30241720 2018
6
The evaluation of the risk factors for capsular complications in phacoemulsification. 61
28852905 2018
7
Phacoemulsification with hydrodelineation and OVD-assisted hydrodissection in posterior polar cataract. 61
29986674 2018
8
Application of 25 MHz B-Scan Ultrasonography to Determine the Integrity of the Posterior Capsule in Posterior Polar Cataract. 61
29785304 2018
9
Managing the posterior polar cataract: An update. 61
29208815 2017
10
Intraoperative optical coherence tomography in anterior segment surgeries. 61
28345566 2017
11
The P20R mutation of αB-crystallin diminishes its anti-apoptotic activity in human lens epithelial cells. 61
28007594 2017
12
Phacoemulsification in posterior polar cataract. 61
27626143 2016
13
Posterior polar cataract: Minimizing risks. 61
27546963 2016
14
Femtosecond Laser-assisted Cataract Surgery Technique to Enhance Safety in Posterior Polar Cataract. 61
26334779 2015
15
Transient complete visual loss after intracameral anesthetic injection in cataract surgery. 61
27239591 2015
16
A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. 61
25894238 2015
17
Femtodelineation to enhance safety in posterior polar cataracts. 61
25840293 2015
18
A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family. 61
25803033 2015
19
Application of anterior segment optical coherence tomography to identify eyes with posterior polar cataract at high risk for posterior capsule rupture. 61
25465687 2014
20
Pre-surround division technique: precise cracks surrounding the posterior opacity prior to phacoemulsification in posterior polar cataract surgery. 61
25442881 2014
21
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. 61
25195561 2014
22
Phacoemulsification in a Rare Case of Alport's Syndrome. 61
23952035 2014
23
A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family. 61
24465161 2014
24
Anterior segment optical coherence tomography for demonstrating posterior capsular rent in posterior polar cataract. 61
24453477 2014
25
Association of CHMP4B and autophagy with micronuclei: implications for cataract formation. 61
24741567 2014
26
A new locus in chromosome 2q37-qter is associated with posterior polar cataract. 61
21881846 2012
27
Surgical approaches to posterior polar cataract: a review. 61
22441026 2012
28
Phacoemulsification in eyes with posterior polar cataract. 61
22920002 2012
29
Risk factors for vitreous complications in resident-performed phacoemulsification surgery. 61
22104643 2012
30
Effect of anterior capsular polishing on the rate of posterior capsule opacification: A retrospective analytical study. 61
23960976 2012
31
Posterior polar cataract: A review. 61
23960967 2012
32
Approaches to a posterior polar cataract. 61
23960968 2012
33
A novel CRYAB mutation resulting in multisystemic disease. 61
21920752 2012
34
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 61
21681855 2011
35
Oval capsulorhexis for phacoemulsification in posterior polar cataract with preexisting posterior capsule rupture. 61
21700098 2011
36
The complications during phacoemulsification in patients with posterior polar cataract. 61
21853943 2011
37
Modified technique for epinucleus removal in posterior polar cataract. 61
21053813 2011
38
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. 61
21633712 2011
39
Visual impairment and delay in presentation for surgery in chinese pediatric patients with cataract. 61
20709402 2011
40
Phacoemulsification in posterior polar cataract: does size of lens opacity affect surgical outcome? 61
20572822 2010
41
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. 61
21031021 2010
42
Inverse horse-shoe technique for the phacoemulsification of posterior polar cataract. 61
20379301 2010
43
A study to explore the risk factors for the early onset of cataract in India. 61
19521430 2010
44
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. 61
20142846 2010
45
Posterior polar cataract surgery: a posterior segment approach. 61
18989342 2009
46
Incidence of intraoperative complications in cataract surgery performed by left-handed residents. 61
19465287 2009
47
Cataract surgery (phacoemulsification) in difficult cases. 61
20361648 2009
48
Surgical and visual outcomes for posterior polar cataract. 61
18728051 2008
49
Bilateral spontaneous rupture of posterior capsule in posterior polar cataract. 61
19128390 2008
50
Characterization and prevalence of cataracts in Labrador Retrievers in The Netherlands. 61
18828692 2008

Variations for Posterior Polar Cataract

ClinVar genetic disease variations for Posterior Polar Cataract:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)SNV Conflicting interpretations of pathogenicity 178013 rs149787233 11:111782333-111782333 11:111911609-111911609
2 CRYAB NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)SNV Conflicting interpretations of pathogenicity 41926 rs150516929 11:111779556-111779556 11:111908832-111908832
3 CRYAB NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)SNV Conflicting interpretations of pathogenicity 44232 rs2234704 11:111782297-111782297 11:111911573-111911573
4 CRYAB NM_001289808.2(CRYAB):c.*107A>GSNV Uncertain significance 302428 rs886047686 11:111779381-111779381 11:111908657-111908657
5 CRYAB NM_001289808.2(CRYAB):c.*39T>CSNV Uncertain significance 302429 rs782808506 11:111779449-111779449 11:111908725-111908725
6 CRYAB NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)SNV Uncertain significance 302432 rs886047688 11:111782347-111782347 11:111911623-111911623
7 CRYAB NM_001289808.2(CRYAB):c.375A>C (p.Pro125=)SNV Uncertain significance 302431 rs886047687 11:111779641-111779641 11:111908917-111908917
8 CRYAB NM_001289808.2(CRYAB):c.*38G>CSNV Uncertain significance 302430 rs781853968 11:111779450-111779450 11:111908726-111908726
9 CRYAB NM_001289808.2(CRYAB):c.-21C>TSNV Benign/Likely benign 302433 rs376222434 11:111782469-111782469 11:111911745-111911745
10 CRYAB NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)SNV Benign 44233 rs2228387 11:111782284-111782284 11:111911560-111911560
11 CRYAB NM_001289808.2(CRYAB):c.324+4T>GSNV Benign 44234 rs11603779 11:111781047-111781047 11:111910323-111910323
12 CRYAB NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)SNV Benign 44239 rs4252582 11:111782389-111782389 11:111911665-111911665

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 response to stimulus GO:0050896 9.76 CRYGD CRYBB2 CRYAA BFSP2
2 visual perception GO:0007601 9.61 HSF4 GJA3 CRYGS CRYGD CRYGA CRYBB2
3 protein homooligomerization GO:0051260 9.56 HSF4 CRYAB CRYAA CHMP4B
4 camera-type eye development GO:0043010 9.5 HSF4 CRYBB2 CRYAB
5 cell maturation GO:0048469 9.43 BFSP2 BFSP1
6 negative regulation of cytokine production GO:0001818 9.4 EPHA2 CRYBA1
7 lens fiber cell development GO:0070307 9.37 BFSP2 BFSP1
8 lens development in camera-type eye GO:0002088 9.17 PITX3 CRYGS CRYGD CRYGA CRYBB2 CRYBA1
9 negative regulation of intracellular transport GO:0032387 9.16 CRYAB CRYAA

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 HSF4 CRYBB2 CRYAB CRYAA CHMP4B
2 structural constituent of eye lens GO:0005212 9.28 CRYGS CRYGD CRYGA CRYBB2 CRYBA1 CRYAB

Sources for Posterior Polar Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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